Id |
Subject |
Object |
Predicate |
Lexical cue |
T8971 |
23-29 |
NN |
denotes |
Genome |
T8972 |
30-34 |
JJ |
denotes |
wide |
T8973 |
29-30 |
HYPH |
denotes |
- |
T8974 |
35-42 |
NN |
denotes |
linkage |
T8975 |
43-45 |
IN |
denotes |
in |
T8976 |
46-50 |
NNS |
denotes |
mice |
T8977 |
50-51 |
. |
denotes |
. |
T8978 |
51-257 |
sentence |
denotes |
One hundred and twenty DNA fragments were amplified across the genome, each selected to contain one or more strain-specific SNPs that would differentiate between C57BL/6J and 129x1/SvJ inbred strains [12]. |
T8979 |
52-55 |
CD |
denotes |
One |
T8980 |
56-63 |
CD |
denotes |
hundred |
T8981 |
79-88 |
NNS |
denotes |
fragments |
T8982 |
64-67 |
CC |
denotes |
and |
T8983 |
68-74 |
CD |
denotes |
twenty |
T8984 |
75-78 |
NN |
denotes |
DNA |
T8985 |
94-103 |
VBN |
denotes |
amplified |
T8986 |
89-93 |
VBD |
denotes |
were |
T8987 |
104-110 |
IN |
denotes |
across |
T8988 |
111-114 |
DT |
denotes |
the |
T8989 |
115-121 |
NN |
denotes |
genome |
T8990 |
121-123 |
, |
denotes |
, |
T8991 |
123-127 |
DT |
denotes |
each |
T8992 |
128-136 |
VBN |
denotes |
selected |
T8993 |
137-139 |
TO |
denotes |
to |
T8994 |
140-147 |
VB |
denotes |
contain |
T8995 |
148-151 |
CD |
denotes |
one |
T8996 |
176-180 |
NNS |
denotes |
SNPs |
T8997 |
152-154 |
CC |
denotes |
or |
T8998 |
155-159 |
JJR |
denotes |
more |
T8999 |
160-166 |
NN |
denotes |
strain |
T9000 |
167-175 |
JJ |
denotes |
specific |
T9001 |
166-167 |
HYPH |
denotes |
- |
T9002 |
181-185 |
WDT |
denotes |
that |
T9003 |
192-205 |
VB |
denotes |
differentiate |
T9004 |
186-191 |
MD |
denotes |
would |
T9005 |
206-213 |
IN |
denotes |
between |
T9006 |
214-219 |
NN |
denotes |
C57BL |
T9007 |
220-222 |
NN |
denotes |
6J |
T9008 |
219-220 |
HYPH |
denotes |
/ |
T9009 |
244-251 |
NNS |
denotes |
strains |
T9010 |
223-226 |
CC |
denotes |
and |
T9011 |
227-232 |
NN |
denotes |
129x1 |
T9012 |
233-236 |
NN |
denotes |
SvJ |
T9013 |
232-233 |
HYPH |
denotes |
/ |
T9014 |
237-243 |
JJ |
denotes |
inbred |
T9015 |
252-253 |
-LRB- |
denotes |
[ |
T9016 |
253-255 |
CD |
denotes |
12 |
T9017 |
255-256 |
-RRB- |
denotes |
] |
T9018 |
256-257 |
. |
denotes |
. |
T9019 |
257-421 |
sentence |
denotes |
Each fragment was initially amplified in 11 affected mice and nine unaffected mice; genotype calling was performed by dye-terminator sequencing of these fragments. |
T9020 |
258-262 |
DT |
denotes |
Each |
T9021 |
263-271 |
NN |
denotes |
fragment |
T9022 |
286-295 |
VBN |
denotes |
amplified |
T9023 |
272-275 |
VBD |
denotes |
was |
T9024 |
276-285 |
RB |
denotes |
initially |
T9025 |
363-372 |
VBN |
denotes |
performed |
T9026 |
296-298 |
IN |
denotes |
in |
T9027 |
299-301 |
CD |
denotes |
11 |
T9028 |
311-315 |
NNS |
denotes |
mice |
T9029 |
302-310 |
VBN |
denotes |
affected |
T9030 |
316-319 |
CC |
denotes |
and |
T9031 |
320-324 |
CD |
denotes |
nine |
T9032 |
336-340 |
NNS |
denotes |
mice |
T9033 |
325-335 |
JJ |
denotes |
unaffected |
T9034 |
340-341 |
: |
denotes |
; |
T9035 |
342-350 |
NN |
denotes |
genotype |
T9036 |
351-358 |
NN |
denotes |
calling |
T9037 |
359-362 |
VBD |
denotes |
was |
T9038 |
373-375 |
IN |
denotes |
by |
T9039 |
376-379 |
NN |
denotes |
dye |
T9040 |
380-390 |
NN |
denotes |
terminator |
T9041 |
379-380 |
HYPH |
denotes |
- |
T9042 |
391-401 |
NN |
denotes |
sequencing |
T9043 |
402-404 |
IN |
denotes |
of |
T9044 |
405-410 |
DT |
denotes |
these |
T9045 |
411-420 |
NNS |
denotes |
fragments |
T9046 |
420-421 |
. |
denotes |
. |
T9047 |
421-622 |
sentence |
denotes |
Linkage analysis using these data was performed using mlink [13], which revealed a positive linkage at Chromosome 6qE1, on the 129x1/SvJ background (two-point LOD score 5.13 at marker 20.MMHAP85FLG2). |
T9048 |
422-429 |
NN |
denotes |
Linkage |
T9049 |
430-438 |
NN |
denotes |
analysis |
T9050 |
460-469 |
VBN |
denotes |
performed |
T9051 |
439-444 |
VBG |
denotes |
using |
T9052 |
445-450 |
DT |
denotes |
these |
T9053 |
451-455 |
NNS |
denotes |
data |
T9054 |
456-459 |
VBD |
denotes |
was |
T9055 |
470-475 |
VBG |
denotes |
using |
T9056 |
476-481 |
NN |
denotes |
mlink |
T9057 |
482-483 |
-LRB- |
denotes |
[ |
T9058 |
483-485 |
CD |
denotes |
13 |
T9059 |
485-486 |
-RRB- |
denotes |
] |
T9060 |
486-488 |
, |
denotes |
, |
T9061 |
488-493 |
WDT |
denotes |
which |
T9062 |
494-502 |
VBD |
denotes |
revealed |
T9063 |
503-504 |
DT |
denotes |
a |
T9064 |
514-521 |
NN |
denotes |
linkage |
T9065 |
505-513 |
JJ |
denotes |
positive |
T9066 |
522-524 |
IN |
denotes |
at |
T9067 |
525-535 |
NN |
denotes |
Chromosome |
T9068 |
536-540 |
NN |
denotes |
6qE1 |
T9069 |
540-542 |
, |
denotes |
, |
T9070 |
542-544 |
IN |
denotes |
on |
T9071 |
545-548 |
DT |
denotes |
the |
T9072 |
559-569 |
NN |
denotes |
background |
T9073 |
549-554 |
NN |
denotes |
129x1 |
T9074 |
555-558 |
NN |
denotes |
SvJ |
T9075 |
554-555 |
HYPH |
denotes |
/ |
T9076 |
570-571 |
-LRB- |
denotes |
( |
T9077 |
585-590 |
NN |
denotes |
score |
T9078 |
571-574 |
CD |
denotes |
two |
T9079 |
575-580 |
NN |
denotes |
point |
T9080 |
574-575 |
HYPH |
denotes |
- |
T9081 |
581-584 |
NN |
denotes |
LOD |
T9082 |
591-595 |
CD |
denotes |
5.13 |
T9083 |
596-598 |
IN |
denotes |
at |
T9084 |
599-605 |
NN |
denotes |
marker |
T9085 |
606-620 |
NN |
denotes |
20.MMHAP85FLG2 |
T9086 |
620-621 |
-RRB- |
denotes |
) |
T9087 |
621-622 |
. |
denotes |
. |
T9088 |
622-769 |
sentence |
denotes |
In an attempt to narrow the disease interval we performed backcross experiments that resulted in the generation of three additional affected mice. |
T9089 |
623-625 |
IN |
denotes |
In |
T9090 |
671-680 |
VBD |
denotes |
performed |
T9091 |
626-628 |
DT |
denotes |
an |
T9092 |
629-636 |
NN |
denotes |
attempt |
T9093 |
637-639 |
TO |
denotes |
to |
T9094 |
640-646 |
VB |
denotes |
narrow |
T9095 |
647-650 |
DT |
denotes |
the |
T9096 |
659-667 |
NN |
denotes |
interval |
T9097 |
651-658 |
NN |
denotes |
disease |
T9098 |
668-670 |
PRP |
denotes |
we |
T9099 |
681-690 |
NN |
denotes |
backcross |
T9100 |
691-702 |
NNS |
denotes |
experiments |
T9101 |
703-707 |
WDT |
denotes |
that |
T9102 |
708-716 |
VBD |
denotes |
resulted |
T9103 |
717-719 |
IN |
denotes |
in |
T9104 |
720-723 |
DT |
denotes |
the |
T9105 |
724-734 |
NN |
denotes |
generation |
T9106 |
735-737 |
IN |
denotes |
of |
T9107 |
738-743 |
CD |
denotes |
three |
T9108 |
764-768 |
NNS |
denotes |
mice |
T9109 |
744-754 |
JJ |
denotes |
additional |
T9110 |
755-763 |
VBN |
denotes |
affected |
T9111 |
768-769 |
. |
denotes |
. |
T9112 |
769-961 |
sentence |
denotes |
Genotyping of all affected mice across the disease-segregating interval revealed flanking recombinants and a candidate region of ~5 Mb, between markers D6Mit37 and 44.MMHAP85FLG5 (Figure S1). |
T9113 |
770-780 |
NN |
denotes |
Genotyping |
T9114 |
842-850 |
VBD |
denotes |
revealed |
T9115 |
781-783 |
IN |
denotes |
of |
T9116 |
784-787 |
DT |
denotes |
all |
T9117 |
797-801 |
NNS |
denotes |
mice |
T9118 |
788-796 |
VBN |
denotes |
affected |
T9119 |
802-808 |
IN |
denotes |
across |
T9120 |
809-812 |
DT |
denotes |
the |
T9121 |
833-841 |
NN |
denotes |
interval |
T9122 |
813-820 |
NN |
denotes |
disease |
T9123 |
821-832 |
VBG |
denotes |
segregating |
T9124 |
820-821 |
HYPH |
denotes |
- |
T9125 |
851-859 |
VBG |
denotes |
flanking |
T9126 |
860-872 |
NNS |
denotes |
recombinants |
T9127 |
873-876 |
CC |
denotes |
and |
T9128 |
877-878 |
DT |
denotes |
a |
T9129 |
889-895 |
NN |
denotes |
region |
T9130 |
879-888 |
NN |
denotes |
candidate |
T9131 |
896-898 |
IN |
denotes |
of |
T9132 |
899-900 |
SYM |
denotes |
~ |
T9133 |
900-901 |
CD |
denotes |
5 |
T9134 |
902-904 |
NN |
denotes |
Mb |
T9135 |
904-906 |
, |
denotes |
, |
T9136 |
906-913 |
IN |
denotes |
between |
T9137 |
914-921 |
NNS |
denotes |
markers |
T9138 |
922-929 |
NN |
denotes |
D6Mit37 |
T9139 |
930-933 |
CC |
denotes |
and |
T9140 |
934-948 |
NN |
denotes |
44.MMHAP85FLG5 |
T9141 |
949-950 |
-LRB- |
denotes |
( |
T9142 |
957-959 |
NN |
denotes |
S1 |
T9143 |
950-956 |
NN |
denotes |
Figure |
T9144 |
959-960 |
-RRB- |
denotes |
) |
T9145 |
960-961 |
. |
denotes |
. |
T9146 |
961-1018 |
sentence |
denotes |
This region contains 16 genes and predicted transcripts. |
T9147 |
962-966 |
DT |
denotes |
This |
T9148 |
967-973 |
NN |
denotes |
region |
T9149 |
974-982 |
VBZ |
denotes |
contains |
T9150 |
983-985 |
CD |
denotes |
16 |
T9151 |
986-991 |
NNS |
denotes |
genes |
T9152 |
992-995 |
CC |
denotes |
and |
T9153 |
996-1005 |
VBN |
denotes |
predicted |
T9154 |
1006-1017 |
NNS |
denotes |
transcripts |
T9155 |
1017-1018 |
. |
denotes |
. |
T9602 |
1020-1034 |
NN |
denotes |
Identification |
T9603 |
1035-1037 |
IN |
denotes |
of |
T9604 |
1038-1041 |
DT |
denotes |
the |
T9605 |
1061-1067 |
NN |
denotes |
lesion |
T9606 |
1042-1052 |
VBG |
denotes |
underlying |
T9607 |
1053-1060 |
JJ |
denotes |
genetic |
T9608 |
1068-1070 |
IN |
denotes |
in |
T9609 |
1071-1075 |
NNS |
denotes |
mice |
T9610 |
1075-1076 |
. |
denotes |
. |
T9611 |
1076-1187 |
sentence |
denotes |
Identification of similar phenotypes in mice linked to the 6qE1 interval was performed by literature searches. |
T9612 |
1077-1091 |
NN |
denotes |
Identification |
T9613 |
1154-1163 |
VBN |
denotes |
performed |
T9614 |
1092-1094 |
IN |
denotes |
of |
T9615 |
1095-1102 |
JJ |
denotes |
similar |
T9616 |
1103-1113 |
NNS |
denotes |
phenotypes |
T9617 |
1114-1116 |
IN |
denotes |
in |
T9618 |
1117-1121 |
NNS |
denotes |
mice |
T9619 |
1122-1128 |
VBN |
denotes |
linked |
T9620 |
1129-1131 |
IN |
denotes |
to |
T9621 |
1132-1135 |
DT |
denotes |
the |
T9622 |
1141-1149 |
NN |
denotes |
interval |
T9623 |
1136-1140 |
NN |
denotes |
6qE1 |
T9624 |
1150-1153 |
VBD |
denotes |
was |
T9625 |
1164-1166 |
IN |
denotes |
by |
T9626 |
1167-1177 |
NN |
denotes |
literature |
T9627 |
1178-1186 |
NNS |
denotes |
searches |
T9628 |
1186-1187 |
. |
denotes |
. |
T9629 |
1187-1313 |
sentence |
denotes |
This revealed the Itpr1opt/opt mouse, in which disease is caused by homozygous deletion mutation of exons 43 and 44 of Itpr1. |
T9630 |
1188-1192 |
DT |
denotes |
This |
T9631 |
1193-1201 |
VBD |
denotes |
revealed |
T9632 |
1202-1205 |
DT |
denotes |
the |
T9633 |
1219-1224 |
NN |
denotes |
mouse |
T9634 |
1206-1214 |
NN |
denotes |
Itpr1opt |
T9635 |
1215-1218 |
NN |
denotes |
opt |
T9636 |
1214-1215 |
HYPH |
denotes |
/ |
T9637 |
1224-1226 |
, |
denotes |
, |
T9638 |
1226-1228 |
IN |
denotes |
in |
T9639 |
1246-1252 |
VBN |
denotes |
caused |
T9640 |
1229-1234 |
WDT |
denotes |
which |
T9641 |
1235-1242 |
NN |
denotes |
disease |
T9642 |
1243-1245 |
VBZ |
denotes |
is |
T9643 |
1253-1255 |
IN |
denotes |
by |
T9644 |
1256-1266 |
JJ |
denotes |
homozygous |
T9645 |
1276-1284 |
NN |
denotes |
mutation |
T9646 |
1267-1275 |
NN |
denotes |
deletion |
T9647 |
1285-1287 |
IN |
denotes |
of |
T9648 |
1288-1293 |
NNS |
denotes |
exons |
T9649 |
1294-1296 |
CD |
denotes |
43 |
T9650 |
1297-1300 |
CC |
denotes |
and |
T9651 |
1301-1303 |
CD |
denotes |
44 |
T9652 |
1304-1306 |
IN |
denotes |
of |
T9653 |
1307-1312 |
NN |
denotes |
Itpr1 |
T9654 |
1312-1313 |
. |
denotes |
. |
T9655 |
1313-1441 |
sentence |
denotes |
Primer pairs were designed to sequence each of the coding exons and at least 50 bp of each flanking intronic sequence of Itpr1. |
T9656 |
1314-1320 |
NN |
denotes |
Primer |
T9657 |
1321-1326 |
NNS |
denotes |
pairs |
T9658 |
1332-1340 |
VBN |
denotes |
designed |
T9659 |
1327-1331 |
VBD |
denotes |
were |
T9660 |
1341-1343 |
TO |
denotes |
to |
T9661 |
1344-1352 |
VB |
denotes |
sequence |
T9662 |
1353-1357 |
DT |
denotes |
each |
T9663 |
1358-1360 |
IN |
denotes |
of |
T9664 |
1361-1364 |
DT |
denotes |
the |
T9665 |
1372-1377 |
NNS |
denotes |
exons |
T9666 |
1365-1371 |
NN |
denotes |
coding |
T9667 |
1378-1381 |
CC |
denotes |
and |
T9668 |
1382-1384 |
RB |
denotes |
at |
T9669 |
1391-1393 |
CD |
denotes |
50 |
T9670 |
1385-1390 |
RBS |
denotes |
least |
T9671 |
1394-1396 |
NN |
denotes |
bp |
T9672 |
1397-1399 |
IN |
denotes |
of |
T9673 |
1400-1404 |
DT |
denotes |
each |
T9674 |
1423-1431 |
NN |
denotes |
sequence |
T9675 |
1405-1413 |
VBG |
denotes |
flanking |
T9676 |
1414-1422 |
JJ |
denotes |
intronic |
T9677 |
1432-1434 |
IN |
denotes |
of |
T9678 |
1435-1440 |
NN |
denotes |
Itpr1 |
T9679 |
1440-1441 |
. |
denotes |
. |
T9680 |
1441-1533 |
sentence |
denotes |
PCR amplification of each exon was performed using DNA from two affected mice as templates. |
T9681 |
1442-1445 |
NN |
denotes |
PCR |
T9682 |
1446-1459 |
NN |
denotes |
amplification |
T9683 |
1477-1486 |
VBN |
denotes |
performed |
T9684 |
1460-1462 |
IN |
denotes |
of |
T9685 |
1463-1467 |
DT |
denotes |
each |
T9686 |
1468-1472 |
NN |
denotes |
exon |
T9687 |
1473-1476 |
VBD |
denotes |
was |
T9688 |
1487-1492 |
VBG |
denotes |
using |
T9689 |
1493-1496 |
NN |
denotes |
DNA |
T9690 |
1497-1501 |
IN |
denotes |
from |
T9691 |
1502-1505 |
CD |
denotes |
two |
T9692 |
1515-1519 |
NNS |
denotes |
mice |
T9693 |
1506-1514 |
VBN |
denotes |
affected |
T9694 |
1520-1522 |
IN |
denotes |
as |
T9695 |
1523-1532 |
NNS |
denotes |
templates |
T9696 |
1532-1533 |
. |
denotes |
. |
T9697 |
1533-1621 |
sentence |
denotes |
The Itpr1Δ18/Δ18 mutation was confirmed by sequencing in all affected mice (Figure S2). |
T9698 |
1534-1537 |
DT |
denotes |
The |
T9699 |
1551-1559 |
NN |
denotes |
mutation |
T9700 |
1538-1546 |
NN |
denotes |
Itpr1Δ18 |
T9701 |
1547-1550 |
NN |
denotes |
Δ18 |
T9702 |
1546-1547 |
HYPH |
denotes |
/ |
T9703 |
1564-1573 |
VBN |
denotes |
confirmed |
T9704 |
1560-1563 |
VBD |
denotes |
was |
T9705 |
1574-1576 |
IN |
denotes |
by |
T9706 |
1577-1587 |
NN |
denotes |
sequencing |
T9707 |
1588-1590 |
IN |
denotes |
in |
T9708 |
1591-1594 |
DT |
denotes |
all |
T9709 |
1604-1608 |
NNS |
denotes |
mice |
T9710 |
1595-1603 |
VBN |
denotes |
affected |
T9711 |
1609-1610 |
-LRB- |
denotes |
( |
T9712 |
1617-1619 |
NN |
denotes |
S2 |
T9713 |
1610-1616 |
NN |
denotes |
Figure |
T9714 |
1619-1620 |
-RRB- |
denotes |
) |
T9715 |
1620-1621 |
. |
denotes |
. |
T9716 |
1621-1804 |
sentence |
denotes |
Breeding experiments were performed between two female mice heterozygous for the current mutation (Itpr1wt/Δ18) and a male mouse heterozygous for the Itpr1opt mutation (Itpr1wt/opt). |
T9717 |
1622-1630 |
VBG |
denotes |
Breeding |
T9718 |
1631-1642 |
NNS |
denotes |
experiments |
T9719 |
1648-1657 |
VBN |
denotes |
performed |
T9720 |
1643-1647 |
VBD |
denotes |
were |
T9721 |
1658-1665 |
IN |
denotes |
between |
T9722 |
1666-1669 |
CD |
denotes |
two |
T9723 |
1677-1681 |
NNS |
denotes |
mice |
T9724 |
1670-1676 |
JJ |
denotes |
female |
T9725 |
1682-1694 |
JJ |
denotes |
heterozygous |
T9726 |
1695-1698 |
IN |
denotes |
for |
T9727 |
1699-1702 |
DT |
denotes |
the |
T9728 |
1711-1719 |
NN |
denotes |
mutation |
T9729 |
1703-1710 |
JJ |
denotes |
current |
T9730 |
1720-1721 |
-LRB- |
denotes |
( |
T9731 |
1729-1732 |
NN |
denotes |
Δ18 |
T9732 |
1721-1728 |
NN |
denotes |
Itpr1wt |
T9733 |
1728-1729 |
HYPH |
denotes |
/ |
T9734 |
1732-1733 |
-RRB- |
denotes |
) |
T9735 |
1734-1737 |
CC |
denotes |
and |
T9736 |
1738-1739 |
DT |
denotes |
a |
T9737 |
1745-1750 |
NN |
denotes |
mouse |
T9738 |
1740-1744 |
JJ |
denotes |
male |
T9739 |
1751-1763 |
JJ |
denotes |
heterozygous |
T9740 |
1764-1767 |
IN |
denotes |
for |
T9741 |
1768-1771 |
DT |
denotes |
the |
T9742 |
1781-1789 |
NN |
denotes |
mutation |
T9743 |
1772-1780 |
NN |
denotes |
Itpr1opt |
T9744 |
1790-1791 |
-LRB- |
denotes |
( |
T9745 |
1799-1802 |
NN |
denotes |
opt |
T9746 |
1791-1798 |
NN |
denotes |
Itpr1wt |
T9747 |
1798-1799 |
HYPH |
denotes |
/ |
T9748 |
1802-1803 |
-RRB- |
denotes |
) |
T9749 |
1803-1804 |
. |
denotes |
. |
T9750 |
1804-2068 |
sentence |
denotes |
This resulted in two litters of mice with a total of four affected Itpr1opt/Δ18 pups (from a total of 15; two of seven from first mating; two of eight from the second mating) with a phenotype indistinguishable from that of the Itpr1Δ18/Δ18 and Itpr1opt /opt mice. |
T9751 |
1805-1809 |
DT |
denotes |
This |
T9752 |
1810-1818 |
VBD |
denotes |
resulted |
T9753 |
1819-1821 |
IN |
denotes |
in |
T9754 |
1822-1825 |
CD |
denotes |
two |
T9755 |
1826-1833 |
NNS |
denotes |
litters |
T9756 |
1834-1836 |
IN |
denotes |
of |
T9757 |
1837-1841 |
NNS |
denotes |
mice |
T9758 |
1842-1846 |
IN |
denotes |
with |
T9759 |
1847-1848 |
DT |
denotes |
a |
T9760 |
1849-1854 |
NN |
denotes |
total |
T9761 |
1855-1857 |
IN |
denotes |
of |
T9762 |
1858-1862 |
CD |
denotes |
four |
T9763 |
1885-1889 |
NNS |
denotes |
pups |
T9764 |
1863-1871 |
VBN |
denotes |
affected |
T9765 |
1872-1880 |
NN |
denotes |
Itpr1opt |
T9766 |
1881-1884 |
NN |
denotes |
Δ18 |
T9767 |
1880-1881 |
HYPH |
denotes |
/ |
T9768 |
1890-1891 |
-LRB- |
denotes |
( |
T9769 |
1950-1955 |
CD |
denotes |
eight |
T9770 |
1891-1895 |
IN |
denotes |
from |
T9771 |
1896-1897 |
DT |
denotes |
a |
T9772 |
1898-1903 |
NN |
denotes |
total |
T9773 |
1904-1906 |
IN |
denotes |
of |
T9774 |
1907-1909 |
CD |
denotes |
15 |
T9775 |
1909-1910 |
: |
denotes |
; |
T9776 |
1911-1914 |
CD |
denotes |
two |
T9777 |
1918-1923 |
CD |
denotes |
seven |
T9778 |
1915-1917 |
IN |
denotes |
of |
T9779 |
1924-1928 |
IN |
denotes |
from |
T9780 |
1929-1934 |
JJ |
denotes |
first |
T9781 |
1935-1941 |
NN |
denotes |
mating |
T9782 |
1941-1942 |
: |
denotes |
; |
T9783 |
1943-1946 |
CD |
denotes |
two |
T9784 |
1947-1949 |
IN |
denotes |
of |
T9785 |
1956-1960 |
IN |
denotes |
from |
T9786 |
1961-1964 |
DT |
denotes |
the |
T9787 |
1972-1978 |
NN |
denotes |
mating |
T9788 |
1965-1971 |
JJ |
denotes |
second |
T9789 |
1978-1979 |
-RRB- |
denotes |
) |
T9790 |
1980-1984 |
IN |
denotes |
with |
T9791 |
1985-1986 |
DT |
denotes |
a |
T9792 |
1987-1996 |
NN |
denotes |
phenotype |
T9793 |
1997-2014 |
JJ |
denotes |
indistinguishable |
T9794 |
2015-2019 |
IN |
denotes |
from |
T9795 |
2020-2024 |
DT |
denotes |
that |
T9796 |
2025-2027 |
IN |
denotes |
of |
T9797 |
2028-2031 |
DT |
denotes |
the |
T9798 |
2063-2067 |
NNS |
denotes |
mice |
T9799 |
2032-2040 |
NN |
denotes |
Itpr1Δ18 |
T9800 |
2041-2044 |
NN |
denotes |
Δ18 |
T9801 |
2040-2041 |
HYPH |
denotes |
/ |
T9802 |
2045-2048 |
CC |
denotes |
and |
T9803 |
2049-2057 |
NN |
denotes |
Itpr1opt |
T9804 |
2059-2062 |
NN |
denotes |
opt |
T9805 |
2058-2059 |
HYPH |
denotes |
/ |
T9806 |
2067-2068 |
. |
denotes |
. |
T10116 |
2070-2078 |
NN |
denotes |
Analysis |
T10117 |
2079-2081 |
IN |
denotes |
of |
T10118 |
2082-2087 |
NN |
denotes |
Itpr1 |
T10119 |
2088-2095 |
NN |
denotes |
protein |
T10120 |
2096-2098 |
IN |
denotes |
in |
T10121 |
2099-2103 |
NNS |
denotes |
mice |
T10122 |
2103-2104 |
. |
denotes |
. |
T10123 |
2104-2226 |
sentence |
denotes |
We performed Western blot analyses using standard techniques with ECL detection kits (Amersham, http://www.amersham.com). |
T10124 |
2105-2107 |
PRP |
denotes |
We |
T10125 |
2108-2117 |
VBD |
denotes |
performed |
T10126 |
2118-2125 |
NNP |
denotes |
Western |
T10127 |
2126-2130 |
NN |
denotes |
blot |
T10128 |
2131-2139 |
NNS |
denotes |
analyses |
T10129 |
2140-2145 |
VBG |
denotes |
using |
T10130 |
2146-2154 |
JJ |
denotes |
standard |
T10131 |
2155-2165 |
NNS |
denotes |
techniques |
T10132 |
2166-2170 |
IN |
denotes |
with |
T10133 |
2171-2174 |
NN |
denotes |
ECL |
T10134 |
2185-2189 |
NNS |
denotes |
kits |
T10135 |
2175-2184 |
NN |
denotes |
detection |
T10136 |
2190-2191 |
-LRB- |
denotes |
( |
T10137 |
2191-2199 |
NNP |
denotes |
Amersham |
T10138 |
2199-2201 |
, |
denotes |
, |
T10139 |
2201-2224 |
NN |
denotes |
http://www.amersham.com |
T10140 |
2224-2225 |
-RRB- |
denotes |
) |
T10141 |
2225-2226 |
. |
denotes |
. |
T10142 |
2226-2492 |
sentence |
denotes |
Briefly, dissected whole brains from postnatal day 21 littermates were homogenized in a buffer containing 50 mM Tris-HCl, 150 mM NaCl, 1 mM EDTA, 1% Triton X-100, 1% sodium deoxycholate, 0.1% SDS, and a cocktail of protease inhibitors (Roche, http://www.roche.com). |
T10143 |
2227-2234 |
RB |
denotes |
Briefly |
T10144 |
2298-2309 |
VBN |
denotes |
homogenized |
T10145 |
2234-2236 |
, |
denotes |
, |
T10146 |
2236-2245 |
VBN |
denotes |
dissected |
T10147 |
2252-2258 |
NNS |
denotes |
brains |
T10148 |
2246-2251 |
JJ |
denotes |
whole |
T10149 |
2259-2263 |
IN |
denotes |
from |
T10150 |
2264-2273 |
JJ |
denotes |
postnatal |
T10151 |
2274-2277 |
NN |
denotes |
day |
T10152 |
2281-2292 |
NNS |
denotes |
littermates |
T10153 |
2278-2280 |
CD |
denotes |
21 |
T10154 |
2293-2297 |
VBD |
denotes |
were |
T10155 |
2310-2312 |
IN |
denotes |
in |
T10156 |
2313-2314 |
DT |
denotes |
a |
T10157 |
2315-2321 |
NN |
denotes |
buffer |
T10158 |
2322-2332 |
VBG |
denotes |
containing |
T10159 |
2333-2335 |
CD |
denotes |
50 |
T10160 |
2336-2338 |
NN |
denotes |
mM |
T10161 |
2344-2347 |
NN |
denotes |
HCl |
T10162 |
2339-2343 |
NN |
denotes |
Tris |
T10163 |
2343-2344 |
HYPH |
denotes |
- |
T10164 |
2347-2349 |
, |
denotes |
, |
T10165 |
2349-2352 |
CD |
denotes |
150 |
T10166 |
2353-2355 |
NN |
denotes |
mM |
T10167 |
2356-2360 |
NN |
denotes |
NaCl |
T10168 |
2360-2362 |
, |
denotes |
, |
T10169 |
2362-2363 |
CD |
denotes |
1 |
T10170 |
2364-2366 |
NN |
denotes |
mM |
T10171 |
2367-2371 |
NN |
denotes |
EDTA |
T10172 |
2371-2373 |
, |
denotes |
, |
T10173 |
2373-2374 |
CD |
denotes |
1 |
T10174 |
2374-2375 |
NN |
denotes |
% |
T10175 |
2383-2384 |
NN |
denotes |
X |
T10176 |
2376-2382 |
NN |
denotes |
Triton |
T10177 |
2384-2385 |
HYPH |
denotes |
- |
T10178 |
2385-2388 |
CD |
denotes |
100 |
T10179 |
2388-2390 |
, |
denotes |
, |
T10180 |
2390-2391 |
CD |
denotes |
1 |
T10181 |
2391-2392 |
NN |
denotes |
% |
T10182 |
2400-2412 |
NN |
denotes |
deoxycholate |
T10183 |
2393-2399 |
NN |
denotes |
sodium |
T10184 |
2412-2414 |
, |
denotes |
, |
T10185 |
2414-2417 |
CD |
denotes |
0.1 |
T10186 |
2417-2418 |
NN |
denotes |
% |
T10187 |
2419-2422 |
NN |
denotes |
SDS |
T10188 |
2422-2424 |
, |
denotes |
, |
T10189 |
2424-2427 |
CC |
denotes |
and |
T10190 |
2428-2429 |
DT |
denotes |
a |
T10191 |
2430-2438 |
NN |
denotes |
cocktail |
T10192 |
2439-2441 |
IN |
denotes |
of |
T10193 |
2442-2450 |
NN |
denotes |
protease |
T10194 |
2451-2461 |
NNS |
denotes |
inhibitors |
T10195 |
2462-2463 |
-LRB- |
denotes |
( |
T10196 |
2463-2468 |
NNP |
denotes |
Roche |
T10197 |
2468-2470 |
, |
denotes |
, |
T10198 |
2470-2490 |
NN |
denotes |
http://www.roche.com |
T10199 |
2490-2491 |
-RRB- |
denotes |
) |
T10200 |
2491-2492 |
. |
denotes |
. |
T10201 |
2492-2683 |
sentence |
denotes |
Homogenates were diluted appropriately, mixed with 4× reducing sample buffer, and loaded onto 4%–12% precast gradient gels (Novex, http://www.invitrogen.com) for SDS-PAGE and immunoblotting. |
T10202 |
2493-2504 |
NNS |
denotes |
Homogenates |
T10203 |
2510-2517 |
VBN |
denotes |
diluted |
T10204 |
2505-2509 |
VBD |
denotes |
were |
T10205 |
2518-2531 |
RB |
denotes |
appropriately |
T10206 |
2531-2533 |
, |
denotes |
, |
T10207 |
2533-2538 |
VBN |
denotes |
mixed |
T10208 |
2539-2543 |
IN |
denotes |
with |
T10209 |
2544-2545 |
CD |
denotes |
4 |
T10210 |
2563-2569 |
NN |
denotes |
buffer |
T10211 |
2545-2546 |
SYM |
denotes |
× |
T10212 |
2547-2555 |
VBG |
denotes |
reducing |
T10213 |
2556-2562 |
NN |
denotes |
sample |
T10214 |
2569-2571 |
, |
denotes |
, |
T10215 |
2571-2574 |
CC |
denotes |
and |
T10216 |
2575-2581 |
VBN |
denotes |
loaded |
T10217 |
2582-2586 |
IN |
denotes |
onto |
T10218 |
2587-2588 |
CD |
denotes |
4 |
T10219 |
2588-2589 |
NN |
denotes |
% |
T10220 |
2611-2615 |
NNS |
denotes |
gels |
T10221 |
2589-2590 |
SYM |
denotes |
– |
T10222 |
2592-2593 |
NN |
denotes |
% |
T10223 |
2590-2592 |
CD |
denotes |
12 |
T10224 |
2594-2601 |
NN |
denotes |
precast |
T10225 |
2602-2610 |
NN |
denotes |
gradient |
T10226 |
2616-2617 |
-LRB- |
denotes |
( |
T10227 |
2617-2622 |
NNP |
denotes |
Novex |
T10228 |
2622-2624 |
, |
denotes |
, |
T10229 |
2624-2649 |
NN |
denotes |
http://www.invitrogen.com |
T10230 |
2649-2650 |
-RRB- |
denotes |
) |
T10231 |
2651-2654 |
IN |
denotes |
for |
T10232 |
2655-2658 |
NN |
denotes |
SDS |
T10233 |
2659-2663 |
NN |
denotes |
PAGE |
T10234 |
2658-2659 |
HYPH |
denotes |
- |
T10235 |
2664-2667 |
CC |
denotes |
and |
T10236 |
2668-2682 |
NN |
denotes |
immunoblotting |
T10237 |
2682-2683 |
. |
denotes |
. |
T10238 |
2683-2779 |
sentence |
denotes |
The antibodies to Itpr1 (1:2,000) and Actb (1:5,000) were used as recommended by manufacturers. |
T10239 |
2684-2687 |
DT |
denotes |
The |
T10240 |
2688-2698 |
NNS |
denotes |
antibodies |
T10241 |
2742-2746 |
VBN |
denotes |
used |
T10242 |
2699-2701 |
IN |
denotes |
to |
T10243 |
2702-2707 |
NN |
denotes |
Itpr1 |
T10244 |
2708-2709 |
-LRB- |
denotes |
( |
T10245 |
2709-2710 |
CD |
denotes |
1 |
T10246 |
2710-2711 |
SYM |
denotes |
: |
T10247 |
2711-2716 |
CD |
denotes |
2,000 |
T10248 |
2716-2717 |
-RRB- |
denotes |
) |
T10249 |
2718-2721 |
CC |
denotes |
and |
T10250 |
2722-2726 |
NN |
denotes |
Actb |
T10251 |
2727-2728 |
-LRB- |
denotes |
( |
T10252 |
2728-2729 |
CD |
denotes |
1 |
T10253 |
2729-2730 |
SYM |
denotes |
: |
T10254 |
2730-2735 |
CD |
denotes |
5,000 |
T10255 |
2735-2736 |
-RRB- |
denotes |
) |
T10256 |
2737-2741 |
VBD |
denotes |
were |
T10257 |
2747-2749 |
IN |
denotes |
as |
T10258 |
2750-2761 |
VBN |
denotes |
recommended |
T10259 |
2762-2764 |
IN |
denotes |
by |
T10260 |
2765-2778 |
NNS |
denotes |
manufacturers |
T10261 |
2778-2779 |
. |
denotes |
. |
T10935 |
2781-2801 |
NN |
denotes |
Immunohistochemistry |
T10936 |
2801-2802 |
. |
denotes |
. |
T10937 |
2802-2932 |
sentence |
denotes |
Brains were isolated from 21-d-old mice, perfused with 4% paraformaldehyde in PBS, and post-fixed overnight in the same fixative. |
T10938 |
2803-2809 |
NNS |
denotes |
Brains |
T10939 |
2815-2823 |
VBN |
denotes |
isolated |
T10940 |
2810-2814 |
VBD |
denotes |
were |
T10941 |
2824-2828 |
IN |
denotes |
from |
T10942 |
2829-2831 |
CD |
denotes |
21 |
T10943 |
2832-2833 |
NN |
denotes |
d |
T10944 |
2831-2832 |
HYPH |
denotes |
- |
T10945 |
2834-2837 |
JJ |
denotes |
old |
T10946 |
2833-2834 |
HYPH |
denotes |
- |
T10947 |
2838-2842 |
NNS |
denotes |
mice |
T10948 |
2842-2844 |
, |
denotes |
, |
T10949 |
2844-2852 |
VBN |
denotes |
perfused |
T10950 |
2853-2857 |
IN |
denotes |
with |
T10951 |
2858-2859 |
CD |
denotes |
4 |
T10952 |
2859-2860 |
NN |
denotes |
% |
T10953 |
2861-2877 |
NN |
denotes |
paraformaldehyde |
T10954 |
2878-2880 |
IN |
denotes |
in |
T10955 |
2881-2884 |
NN |
denotes |
PBS |
T10956 |
2884-2886 |
, |
denotes |
, |
T10957 |
2886-2889 |
CC |
denotes |
and |
T10958 |
2890-2900 |
VBN |
denotes |
post-fixed |
T10959 |
2901-2910 |
RB |
denotes |
overnight |
T10960 |
2911-2913 |
IN |
denotes |
in |
T10961 |
2914-2917 |
DT |
denotes |
the |
T10962 |
2923-2931 |
NN |
denotes |
fixative |
T10963 |
2918-2922 |
JJ |
denotes |
same |
T10964 |
2931-2932 |
. |
denotes |
. |
T10965 |
2932-3094 |
sentence |
denotes |
Brains were embedded in gelatin, and 35-μm sagittal sections were cut using a sliding microtome (NeuroScience Associates, http://www.neuroscienceassociates.com). |
T10966 |
2933-2939 |
NNS |
denotes |
Brains |
T10967 |
2945-2953 |
VBN |
denotes |
embedded |
T10968 |
2940-2944 |
VBD |
denotes |
were |
T10969 |
2954-2956 |
IN |
denotes |
in |
T10970 |
2957-2964 |
NN |
denotes |
gelatin |
T10971 |
2964-2966 |
, |
denotes |
, |
T10972 |
2966-2969 |
CC |
denotes |
and |
T10973 |
2970-2972 |
CD |
denotes |
35 |
T10974 |
2973-2975 |
NN |
denotes |
μm |
T10975 |
2972-2973 |
HYPH |
denotes |
- |
T10976 |
2985-2993 |
NNS |
denotes |
sections |
T10977 |
2976-2984 |
JJ |
denotes |
sagittal |
T10978 |
2999-3002 |
VBN |
denotes |
cut |
T10979 |
2994-2998 |
VBD |
denotes |
were |
T10980 |
3003-3008 |
VBG |
denotes |
using |
T10981 |
3009-3010 |
DT |
denotes |
a |
T10982 |
3019-3028 |
NN |
denotes |
microtome |
T10983 |
3011-3018 |
VBG |
denotes |
sliding |
T10984 |
3029-3030 |
-LRB- |
denotes |
( |
T10985 |
3043-3053 |
NNP |
denotes |
Associates |
T10986 |
3030-3042 |
NNP |
denotes |
NeuroScience |
T10987 |
3053-3055 |
, |
denotes |
, |
T10988 |
3055-3092 |
NN |
denotes |
http://www.neuroscienceassociates.com |
T10989 |
3092-3093 |
-RRB- |
denotes |
) |
T10990 |
3093-3094 |
. |
denotes |
. |
T10991 |
3094-3195 |
sentence |
denotes |
Sections from wild-type, heterozygote, and homozygous brains were placed in the MultiBrain template. |
T10992 |
3095-3103 |
NNS |
denotes |
Sections |
T10993 |
3161-3167 |
VBN |
denotes |
placed |
T10994 |
3104-3108 |
IN |
denotes |
from |
T10995 |
3109-3113 |
JJ |
denotes |
wild |
T10996 |
3114-3118 |
NN |
denotes |
type |
T10997 |
3113-3114 |
HYPH |
denotes |
- |
T10998 |
3149-3155 |
NNS |
denotes |
brains |
T10999 |
3118-3120 |
, |
denotes |
, |
T11000 |
3120-3132 |
NN |
denotes |
heterozygote |
T11001 |
3132-3134 |
, |
denotes |
, |
T11002 |
3134-3137 |
CC |
denotes |
and |
T11003 |
3138-3148 |
JJ |
denotes |
homozygous |
T11004 |
3156-3160 |
VBD |
denotes |
were |
T11005 |
3168-3170 |
IN |
denotes |
in |
T11006 |
3171-3174 |
DT |
denotes |
the |
T11007 |
3186-3194 |
NN |
denotes |
template |
T11008 |
3175-3185 |
NN |
denotes |
MultiBrain |
T11009 |
3194-3195 |
. |
denotes |
. |
T11010 |
3195-3348 |
sentence |
denotes |
Sections were washed in 1× PBS prior to 1 h of incubation in block solution containing 1× PBS with 20% normal goat serum and 0.3% Triton X-100 (pH 7.4). |
T11011 |
3196-3204 |
NNS |
denotes |
Sections |
T11012 |
3210-3216 |
VBN |
denotes |
washed |
T11013 |
3205-3209 |
VBD |
denotes |
were |
T11014 |
3217-3219 |
IN |
denotes |
in |
T11015 |
3220-3221 |
CD |
denotes |
1 |
T11016 |
3223-3226 |
NN |
denotes |
PBS |
T11017 |
3221-3222 |
SYM |
denotes |
× |
T11018 |
3227-3232 |
RB |
denotes |
prior |
T11019 |
3233-3235 |
IN |
denotes |
to |
T11020 |
3236-3237 |
CD |
denotes |
1 |
T11021 |
3238-3239 |
NN |
denotes |
h |
T11022 |
3240-3242 |
IN |
denotes |
of |
T11023 |
3243-3253 |
NN |
denotes |
incubation |
T11024 |
3254-3256 |
IN |
denotes |
in |
T11025 |
3257-3262 |
NN |
denotes |
block |
T11026 |
3263-3271 |
NN |
denotes |
solution |
T11027 |
3272-3282 |
VBG |
denotes |
containing |
T11028 |
3283-3284 |
CD |
denotes |
1 |
T11029 |
3286-3289 |
NN |
denotes |
PBS |
T11030 |
3284-3285 |
SYM |
denotes |
× |
T11031 |
3290-3294 |
IN |
denotes |
with |
T11032 |
3295-3297 |
CD |
denotes |
20 |
T11033 |
3297-3298 |
NN |
denotes |
% |
T11034 |
3311-3316 |
NN |
denotes |
serum |
T11035 |
3299-3305 |
JJ |
denotes |
normal |
T11036 |
3306-3310 |
NN |
denotes |
goat |
T11037 |
3317-3320 |
CC |
denotes |
and |
T11038 |
3321-3324 |
CD |
denotes |
0.3 |
T11039 |
3324-3325 |
NN |
denotes |
% |
T11040 |
3333-3334 |
NN |
denotes |
X |
T11041 |
3326-3332 |
NN |
denotes |
Triton |
T11042 |
3334-3335 |
HYPH |
denotes |
- |
T11043 |
3335-3338 |
CD |
denotes |
100 |
T11044 |
3339-3340 |
-LRB- |
denotes |
( |
T11045 |
3340-3342 |
NN |
denotes |
pH |
T11046 |
3343-3346 |
CD |
denotes |
7.4 |
T11047 |
3346-3347 |
-RRB- |
denotes |
) |
T11048 |
3347-3348 |
. |
denotes |
. |
T11049 |
3348-3634 |
sentence |
denotes |
Sections were incubated overnight at 4 °C in primary antibodies: affinity purified polyclonal Itpr1 antibody (1:2,000, Chemicon International, http://www.chemicon.com) and monoclonal anti-Calb1 antibody (1:6,000, Sigma-Aldrich, http://www.sigmaaldrich.com) diluted in carrier solution. |
T11050 |
3349-3357 |
NNS |
denotes |
Sections |
T11051 |
3363-3372 |
VBN |
denotes |
incubated |
T11052 |
3358-3362 |
VBD |
denotes |
were |
T11053 |
3373-3382 |
RB |
denotes |
overnight |
T11054 |
3383-3385 |
IN |
denotes |
at |
T11055 |
3386-3387 |
CD |
denotes |
4 |
T11056 |
3388-3390 |
NN |
denotes |
°C |
T11057 |
3391-3393 |
IN |
denotes |
in |
T11058 |
3394-3401 |
JJ |
denotes |
primary |
T11059 |
3402-3412 |
NNS |
denotes |
antibodies |
T11060 |
3412-3414 |
: |
denotes |
: |
T11061 |
3414-3422 |
NN |
denotes |
affinity |
T11062 |
3449-3457 |
NN |
denotes |
antibody |
T11063 |
3423-3431 |
VBN |
denotes |
purified |
T11064 |
3432-3442 |
JJ |
denotes |
polyclonal |
T11065 |
3443-3448 |
NN |
denotes |
Itpr1 |
T11066 |
3458-3459 |
-LRB- |
denotes |
( |
T11067 |
3477-3490 |
NNP |
denotes |
International |
T11068 |
3459-3460 |
CD |
denotes |
1 |
T11069 |
3460-3461 |
SYM |
denotes |
: |
T11070 |
3461-3466 |
CD |
denotes |
2,000 |
T11071 |
3466-3468 |
, |
denotes |
, |
T11072 |
3468-3476 |
NNP |
denotes |
Chemicon |
T11073 |
3490-3492 |
, |
denotes |
, |
T11074 |
3492-3515 |
NN |
denotes |
http://www.chemicon.com |
T11075 |
3515-3516 |
-RRB- |
denotes |
) |
T11076 |
3517-3520 |
CC |
denotes |
and |
T11077 |
3521-3531 |
JJ |
denotes |
monoclonal |
T11078 |
3543-3551 |
NN |
denotes |
antibody |
T11079 |
3532-3542 |
JJ |
denotes |
anti-Calb1 |
T11080 |
3552-3553 |
-LRB- |
denotes |
( |
T11081 |
3568-3575 |
NNP |
denotes |
Aldrich |
T11082 |
3553-3554 |
CD |
denotes |
1 |
T11083 |
3554-3555 |
SYM |
denotes |
: |
T11084 |
3555-3560 |
CD |
denotes |
6,000 |
T11085 |
3560-3562 |
, |
denotes |
, |
T11086 |
3562-3567 |
NNP |
denotes |
Sigma |
T11087 |
3567-3568 |
HYPH |
denotes |
- |
T11088 |
3575-3577 |
, |
denotes |
, |
T11089 |
3577-3604 |
NN |
denotes |
http://www.sigmaaldrich.com |
T11090 |
3604-3605 |
-RRB- |
denotes |
) |
T11091 |
3606-3613 |
VBN |
denotes |
diluted |
T11092 |
3614-3616 |
IN |
denotes |
in |
T11093 |
3617-3624 |
NN |
denotes |
carrier |
T11094 |
3625-3633 |
NN |
denotes |
solution |
T11095 |
3633-3634 |
. |
denotes |
. |
T11096 |
3634-3904 |
sentence |
denotes |
Following extensive washes (in 6.0 ml of PBS, three times), sections were incubated with appropriate secondary antibodies (Alexa Fluor 555 goat anti-rabbit IgG and Alexa Fluor 488 goat anti-mouse IgG [Invitrogen, http://www.invitrogen.com]) for 1 h at room temperature. |
T11097 |
3635-3644 |
VBG |
denotes |
Following |
T11098 |
3709-3718 |
VBN |
denotes |
incubated |
T11099 |
3645-3654 |
JJ |
denotes |
extensive |
T11100 |
3655-3661 |
NNS |
denotes |
washes |
T11101 |
3662-3663 |
-LRB- |
denotes |
( |
T11102 |
3663-3665 |
IN |
denotes |
in |
T11103 |
3666-3669 |
CD |
denotes |
6.0 |
T11104 |
3670-3672 |
NN |
denotes |
ml |
T11105 |
3673-3675 |
IN |
denotes |
of |
T11106 |
3676-3679 |
NN |
denotes |
PBS |
T11107 |
3679-3681 |
, |
denotes |
, |
T11108 |
3687-3692 |
NNS |
denotes |
times |
T11109 |
3681-3686 |
CD |
denotes |
three |
T11110 |
3692-3693 |
-RRB- |
denotes |
) |
T11111 |
3693-3695 |
, |
denotes |
, |
T11112 |
3695-3703 |
NNS |
denotes |
sections |
T11113 |
3704-3708 |
VBD |
denotes |
were |
T11114 |
3719-3723 |
IN |
denotes |
with |
T11115 |
3724-3735 |
JJ |
denotes |
appropriate |
T11116 |
3746-3756 |
NNS |
denotes |
antibodies |
T11117 |
3736-3745 |
JJ |
denotes |
secondary |
T11118 |
3757-3758 |
-LRB- |
denotes |
( |
T11119 |
3791-3794 |
NN |
denotes |
IgG |
T11120 |
3758-3763 |
NNP |
denotes |
Alexa |
T11121 |
3764-3769 |
NNP |
denotes |
Fluor |
T11122 |
3770-3773 |
CD |
denotes |
555 |
T11123 |
3774-3778 |
NN |
denotes |
goat |
T11124 |
3779-3790 |
JJ |
denotes |
anti-rabbit |
T11125 |
3795-3798 |
CC |
denotes |
and |
T11126 |
3799-3804 |
NNP |
denotes |
Alexa |
T11127 |
3805-3810 |
NNP |
denotes |
Fluor |
T11128 |
3831-3834 |
NN |
denotes |
IgG |
T11129 |
3811-3814 |
CD |
denotes |
488 |
T11130 |
3815-3819 |
NN |
denotes |
goat |
T11131 |
3820-3830 |
JJ |
denotes |
anti-mouse |
T11132 |
3835-3836 |
-LRB- |
denotes |
[ |
T11133 |
3836-3846 |
NNP |
denotes |
Invitrogen |
T11134 |
3846-3848 |
, |
denotes |
, |
T11135 |
3848-3873 |
NN |
denotes |
http://www.invitrogen.com |
T11136 |
3873-3874 |
-RRB- |
denotes |
] |
T11137 |
3874-3875 |
-RRB- |
denotes |
) |
T11138 |
3876-3879 |
IN |
denotes |
for |
T11139 |
3880-3881 |
CD |
denotes |
1 |
T11140 |
3882-3883 |
NN |
denotes |
h |
T11141 |
3884-3886 |
IN |
denotes |
at |
T11142 |
3887-3891 |
NN |
denotes |
room |
T11143 |
3892-3903 |
NN |
denotes |
temperature |
T11144 |
3903-3904 |
. |
denotes |
. |
T11145 |
3904-4063 |
sentence |
denotes |
Sections were washed and mounted on glass slides in a buffered medium containing Mowiol (Calbiochem, http://www.emdbiosciences.com) as described earlier [14]. |
T11146 |
3905-3913 |
NNS |
denotes |
Sections |
T11147 |
3919-3925 |
VBN |
denotes |
washed |
T11148 |
3914-3918 |
VBD |
denotes |
were |
T11149 |
3926-3929 |
CC |
denotes |
and |
T11150 |
3930-3937 |
VBN |
denotes |
mounted |
T11151 |
3938-3940 |
IN |
denotes |
on |
T11152 |
3941-3946 |
NN |
denotes |
glass |
T11153 |
3947-3953 |
NNS |
denotes |
slides |
T11154 |
3954-3956 |
IN |
denotes |
in |
T11155 |
3957-3958 |
DT |
denotes |
a |
T11156 |
3968-3974 |
NN |
denotes |
medium |
T11157 |
3959-3967 |
VBN |
denotes |
buffered |
T11158 |
3975-3985 |
VBG |
denotes |
containing |
T11159 |
3986-3992 |
NN |
denotes |
Mowiol |
T11160 |
3993-3994 |
-LRB- |
denotes |
( |
T11161 |
3994-4004 |
NNP |
denotes |
Calbiochem |
T11162 |
4004-4006 |
, |
denotes |
, |
T11163 |
4006-4035 |
NN |
denotes |
http://www.emdbiosciences.com |
T11164 |
4035-4036 |
-RRB- |
denotes |
) |
T11165 |
4037-4039 |
IN |
denotes |
as |
T11166 |
4040-4049 |
VBN |
denotes |
described |
T11167 |
4050-4057 |
RBR |
denotes |
earlier |
T11168 |
4058-4059 |
-LRB- |
denotes |
[ |
T11169 |
4059-4061 |
CD |
denotes |
14 |
T11170 |
4061-4062 |
-RRB- |
denotes |
] |
T11171 |
4062-4063 |
. |
denotes |
. |
T11172 |
4063-4167 |
sentence |
denotes |
Sections were imaged using a laser scanning confocal microscope (LSM 510; Zeiss, http://www.zeiss.com). |
T11173 |
4064-4072 |
NNS |
denotes |
Sections |
T11174 |
4078-4084 |
VBN |
denotes |
imaged |
T11175 |
4073-4077 |
VBD |
denotes |
were |
T11176 |
4085-4090 |
VBG |
denotes |
using |
T11177 |
4091-4092 |
DT |
denotes |
a |
T11178 |
4117-4127 |
NN |
denotes |
microscope |
T11179 |
4093-4098 |
NN |
denotes |
laser |
T11180 |
4099-4107 |
VBG |
denotes |
scanning |
T11181 |
4108-4116 |
JJ |
denotes |
confocal |
T11182 |
4128-4129 |
-LRB- |
denotes |
( |
T11183 |
4138-4143 |
NNP |
denotes |
Zeiss |
T11184 |
4129-4132 |
NN |
denotes |
LSM |
T11185 |
4133-4136 |
CD |
denotes |
510 |
T11186 |
4136-4137 |
: |
denotes |
; |
T11187 |
4143-4145 |
, |
denotes |
, |
T11188 |
4145-4165 |
NN |
denotes |
http://www.zeiss.com |
T11189 |
4165-4166 |
-RRB- |
denotes |
) |
T11190 |
4166-4167 |
. |
denotes |
. |
T11191 |
4167-4326 |
sentence |
denotes |
Imaging parameters (pinhole, detector gain, laser power) were optimized, and were kept constant for the wild-type, heterozygous, and homozygous mutant brains. |
T11192 |
4168-4175 |
NN |
denotes |
Imaging |
T11193 |
4176-4186 |
NNS |
denotes |
parameters |
T11194 |
4230-4239 |
VBN |
denotes |
optimized |
T11195 |
4187-4188 |
-LRB- |
denotes |
( |
T11196 |
4188-4195 |
NN |
denotes |
pinhole |
T11197 |
4195-4197 |
, |
denotes |
, |
T11198 |
4197-4205 |
NN |
denotes |
detector |
T11199 |
4206-4210 |
NN |
denotes |
gain |
T11200 |
4210-4212 |
, |
denotes |
, |
T11201 |
4212-4217 |
NN |
denotes |
laser |
T11202 |
4218-4223 |
NN |
denotes |
power |
T11203 |
4223-4224 |
-RRB- |
denotes |
) |
T11204 |
4225-4229 |
VBD |
denotes |
were |
T11205 |
4239-4241 |
, |
denotes |
, |
T11206 |
4241-4244 |
CC |
denotes |
and |
T11207 |
4245-4249 |
VBD |
denotes |
were |
T11208 |
4250-4254 |
VBN |
denotes |
kept |
T11209 |
4255-4263 |
JJ |
denotes |
constant |
T11210 |
4264-4267 |
IN |
denotes |
for |
T11211 |
4268-4271 |
DT |
denotes |
the |
T11212 |
4319-4325 |
NNS |
denotes |
brains |
T11213 |
4272-4276 |
JJ |
denotes |
wild |
T11214 |
4277-4281 |
NN |
denotes |
type |
T11215 |
4276-4277 |
HYPH |
denotes |
- |
T11216 |
4281-4283 |
, |
denotes |
, |
T11217 |
4283-4295 |
JJ |
denotes |
heterozygous |
T11218 |
4295-4297 |
, |
denotes |
, |
T11219 |
4297-4300 |
CC |
denotes |
and |
T11220 |
4301-4311 |
JJ |
denotes |
homozygous |
T11221 |
4312-4318 |
NN |
denotes |
mutant |
T11222 |
4325-4326 |
. |
denotes |
. |
T11223 |
4326-4413 |
sentence |
denotes |
Specificity of the Itpr1 antibodies was verified by preabsorption control experiments. |
T11224 |
4327-4338 |
NN |
denotes |
Specificity |
T11225 |
4367-4375 |
VBN |
denotes |
verified |
T11226 |
4339-4341 |
IN |
denotes |
of |
T11227 |
4342-4345 |
DT |
denotes |
the |
T11228 |
4352-4362 |
NNS |
denotes |
antibodies |
T11229 |
4346-4351 |
NN |
denotes |
Itpr1 |
T11230 |
4363-4366 |
VBD |
denotes |
was |
T11231 |
4376-4378 |
IN |
denotes |
by |
T11232 |
4379-4392 |
NN |
denotes |
preabsorption |
T11233 |
4401-4412 |
NNS |
denotes |
experiments |
T11234 |
4393-4400 |
NN |
denotes |
control |
T11235 |
4412-4413 |
. |
denotes |
. |
T11236 |
4413-4493 |
sentence |
denotes |
Antibody dilutions were incubated for 24 h at 4 °C with the immunizing peptide. |
T11237 |
4414-4422 |
NN |
denotes |
Antibody |
T11238 |
4423-4432 |
NNS |
denotes |
dilutions |
T11239 |
4438-4447 |
VBN |
denotes |
incubated |
T11240 |
4433-4437 |
VBD |
denotes |
were |
T11241 |
4448-4451 |
IN |
denotes |
for |
T11242 |
4452-4454 |
CD |
denotes |
24 |
T11243 |
4455-4456 |
NN |
denotes |
h |
T11244 |
4457-4459 |
IN |
denotes |
at |
T11245 |
4460-4461 |
CD |
denotes |
4 |
T11246 |
4462-4464 |
NN |
denotes |
°C |
T11247 |
4465-4469 |
IN |
denotes |
with |
T11248 |
4470-4473 |
DT |
denotes |
the |
T11249 |
4485-4492 |
NN |
denotes |
peptide |
T11250 |
4474-4484 |
VBG |
denotes |
immunizing |
T11251 |
4492-4493 |
. |
denotes |
. |
T11252 |
4493-4590 |
sentence |
denotes |
Tissue sections were incubated with the preabsorbed antibodies and processed as described above. |
T11253 |
4494-4500 |
NN |
denotes |
Tissue |
T11254 |
4501-4509 |
NNS |
denotes |
sections |
T11255 |
4515-4524 |
VBN |
denotes |
incubated |
T11256 |
4510-4514 |
VBD |
denotes |
were |
T11257 |
4525-4529 |
IN |
denotes |
with |
T11258 |
4530-4533 |
DT |
denotes |
the |
T11259 |
4546-4556 |
NNS |
denotes |
antibodies |
T11260 |
4534-4545 |
VBN |
denotes |
preabsorbed |
T11261 |
4557-4560 |
CC |
denotes |
and |
T11262 |
4561-4570 |
VBN |
denotes |
processed |
T11263 |
4571-4573 |
IN |
denotes |
as |
T11264 |
4574-4583 |
VBN |
denotes |
described |
T11265 |
4584-4589 |
RB |
denotes |
above |
T11266 |
4589-4590 |
. |
denotes |
. |
T11267 |
4590-4663 |
sentence |
denotes |
Under these conditions, no staining above autofluorescence was detected. |
T11268 |
4591-4596 |
IN |
denotes |
Under |
T11269 |
4654-4662 |
VBN |
denotes |
detected |
T11270 |
4597-4602 |
DT |
denotes |
these |
T11271 |
4603-4613 |
NNS |
denotes |
conditions |
T11272 |
4613-4615 |
, |
denotes |
, |
T11273 |
4615-4617 |
DT |
denotes |
no |
T11274 |
4618-4626 |
NN |
denotes |
staining |
T11275 |
4627-4632 |
IN |
denotes |
above |
T11276 |
4633-4649 |
NN |
denotes |
autofluorescence |
T11277 |
4650-4653 |
VBD |
denotes |
was |
T11278 |
4662-4663 |
. |
denotes |
. |
T12755 |
4665-4673 |
NN |
denotes |
Analysis |
T12756 |
4674-4676 |
IN |
denotes |
of |
T12757 |
4677-4682 |
NN |
denotes |
ITPR1 |
T12758 |
4683-4685 |
IN |
denotes |
in |
T12759 |
4686-4691 |
NN |
denotes |
SCA15 |
T12760 |
4692-4700 |
NNS |
denotes |
patients |
T12761 |
4700-4701 |
. |
denotes |
. |
T12762 |
4701-4783 |
sentence |
denotes |
DNA was extracted from EBV immortalized lymphocytes, derived from family members. |
T12763 |
4702-4705 |
NN |
denotes |
DNA |
T12764 |
4710-4719 |
VBN |
denotes |
extracted |
T12765 |
4706-4709 |
VBD |
denotes |
was |
T12766 |
4720-4724 |
IN |
denotes |
from |
T12767 |
4725-4728 |
NN |
denotes |
EBV |
T12768 |
4742-4753 |
NNS |
denotes |
lymphocytes |
T12769 |
4729-4741 |
VBN |
denotes |
immortalized |
T12770 |
4753-4755 |
, |
denotes |
, |
T12771 |
4755-4762 |
VBN |
denotes |
derived |
T12772 |
4763-4767 |
IN |
denotes |
from |
T12773 |
4768-4774 |
NN |
denotes |
family |
T12774 |
4775-4782 |
NNS |
denotes |
members |
T12775 |
4782-4783 |
. |
denotes |
. |
T12776 |
4783-4989 |
sentence |
denotes |
The coding exons and at least 50 bp of flanking introns of ITPR1 were PCR amplified and sequenced using dye-terminator sequencing (BigDye version 3.1; Applied Biosystems, http://www.appliedbiosystems.com). |
T12777 |
4784-4787 |
DT |
denotes |
The |
T12778 |
4795-4800 |
NNS |
denotes |
exons |
T12779 |
4788-4794 |
VBG |
denotes |
coding |
T12780 |
4858-4867 |
VBN |
denotes |
amplified |
T12781 |
4801-4804 |
CC |
denotes |
and |
T12782 |
4805-4807 |
RB |
denotes |
at |
T12783 |
4814-4816 |
CD |
denotes |
50 |
T12784 |
4808-4813 |
RBS |
denotes |
least |
T12785 |
4817-4819 |
NN |
denotes |
bp |
T12786 |
4820-4822 |
IN |
denotes |
of |
T12787 |
4823-4831 |
VBG |
denotes |
flanking |
T12788 |
4832-4839 |
NNS |
denotes |
introns |
T12789 |
4840-4842 |
IN |
denotes |
of |
T12790 |
4843-4848 |
NN |
denotes |
ITPR1 |
T12791 |
4849-4853 |
VBD |
denotes |
were |
T12792 |
4854-4857 |
NN |
denotes |
PCR |
T12793 |
4868-4871 |
CC |
denotes |
and |
T12794 |
4872-4881 |
VBN |
denotes |
sequenced |
T12795 |
4882-4887 |
VBG |
denotes |
using |
T12796 |
4888-4891 |
NN |
denotes |
dye |
T12797 |
4892-4902 |
NN |
denotes |
terminator |
T12798 |
4891-4892 |
HYPH |
denotes |
- |
T12799 |
4903-4913 |
NN |
denotes |
sequencing |
T12800 |
4914-4915 |
-LRB- |
denotes |
( |
T12801 |
4943-4953 |
NNP |
denotes |
Biosystems |
T12802 |
4915-4921 |
NNP |
denotes |
BigDye |
T12803 |
4922-4929 |
NN |
denotes |
version |
T12804 |
4930-4933 |
CD |
denotes |
3.1 |
T12805 |
4933-4934 |
: |
denotes |
; |
T12806 |
4935-4942 |
NNP |
denotes |
Applied |
T12807 |
4953-4955 |
, |
denotes |
, |
T12808 |
4955-4987 |
NN |
denotes |
http://www.appliedbiosystems.com |
T12809 |
4987-4988 |
-RRB- |
denotes |
) |
T12810 |
4988-4989 |
. |
denotes |
. |
T12811 |
4989-5114 |
sentence |
denotes |
Sequence reactions were run on an ABI3730XP automated sequencer as per the manufacturer's instructions (Applied Biosystems). |
T12812 |
4990-4998 |
NN |
denotes |
Sequence |
T12813 |
4999-5008 |
NNS |
denotes |
reactions |
T12814 |
5014-5017 |
VBN |
denotes |
run |
T12815 |
5009-5013 |
VBD |
denotes |
were |
T12816 |
5018-5020 |
IN |
denotes |
on |
T12817 |
5021-5023 |
DT |
denotes |
an |
T12818 |
5044-5053 |
NN |
denotes |
sequencer |
T12819 |
5024-5033 |
NN |
denotes |
ABI3730XP |
T12820 |
5034-5043 |
VBN |
denotes |
automated |
T12821 |
5054-5056 |
IN |
denotes |
as |
T12822 |
5057-5060 |
IN |
denotes |
per |
T12823 |
5061-5064 |
DT |
denotes |
the |
T12824 |
5065-5077 |
NN |
denotes |
manufacturer |
T12825 |
5080-5092 |
NNS |
denotes |
instructions |
T12826 |
5077-5079 |
POS |
denotes |
's |
T12827 |
5093-5094 |
-LRB- |
denotes |
( |
T12828 |
5102-5112 |
NNP |
denotes |
Biosystems |
T12829 |
5094-5101 |
NNP |
denotes |
Applied |
T12830 |
5112-5113 |
-RRB- |
denotes |
) |
T12831 |
5113-5114 |
. |
denotes |
. |
T12832 |
5114-5238 |
sentence |
denotes |
This analysis was performed in all three affected family members for whom genomic DNA was available (members 6, 7, and 19). |
T12833 |
5115-5119 |
DT |
denotes |
This |
T12834 |
5120-5128 |
NN |
denotes |
analysis |
T12835 |
5133-5142 |
VBN |
denotes |
performed |
T12836 |
5129-5132 |
VBD |
denotes |
was |
T12837 |
5143-5145 |
IN |
denotes |
in |
T12838 |
5146-5149 |
DT |
denotes |
all |
T12839 |
5172-5179 |
NNS |
denotes |
members |
T12840 |
5150-5155 |
CD |
denotes |
three |
T12841 |
5156-5164 |
VBN |
denotes |
affected |
T12842 |
5165-5171 |
NN |
denotes |
family |
T12843 |
5180-5183 |
IN |
denotes |
for |
T12844 |
5201-5204 |
VBD |
denotes |
was |
T12845 |
5184-5188 |
WP |
denotes |
whom |
T12846 |
5189-5196 |
JJ |
denotes |
genomic |
T12847 |
5197-5200 |
NN |
denotes |
DNA |
T12848 |
5205-5214 |
JJ |
denotes |
available |
T12849 |
5215-5216 |
-LRB- |
denotes |
( |
T12850 |
5224-5225 |
CD |
denotes |
6 |
T12851 |
5216-5223 |
NNS |
denotes |
members |
T12852 |
5225-5227 |
, |
denotes |
, |
T12853 |
5227-5228 |
CD |
denotes |
7 |
T12854 |
5228-5230 |
, |
denotes |
, |
T12855 |
5230-5233 |
CC |
denotes |
and |
T12856 |
5234-5236 |
CD |
denotes |
19 |
T12857 |
5236-5237 |
-RRB- |
denotes |
) |
T12858 |
5237-5238 |
. |
denotes |
. |
T12859 |
5238-5298 |
sentence |
denotes |
Primer sequences and conditions are available upon request. |
T12860 |
5239-5245 |
NN |
denotes |
Primer |
T12861 |
5246-5255 |
NNS |
denotes |
sequences |
T12862 |
5271-5274 |
VBP |
denotes |
are |
T12863 |
5256-5259 |
CC |
denotes |
and |
T12864 |
5260-5270 |
NNS |
denotes |
conditions |
T12865 |
5275-5284 |
JJ |
denotes |
available |
T12866 |
5285-5289 |
IN |
denotes |
upon |
T12867 |
5290-5297 |
NN |
denotes |
request |
T12868 |
5297-5298 |
. |
denotes |
. |
T12869 |
5298-5395 |
sentence |
denotes |
Sequence data were analyzed using Sequencher (Gene Codes Corporation, http://www.genecodes.com). |
T12870 |
5299-5307 |
NN |
denotes |
Sequence |
T12871 |
5308-5312 |
NNS |
denotes |
data |
T12872 |
5318-5326 |
VBN |
denotes |
analyzed |
T12873 |
5313-5317 |
VBD |
denotes |
were |
T12874 |
5327-5332 |
VBG |
denotes |
using |
T12875 |
5333-5343 |
NNP |
denotes |
Sequencher |
T12876 |
5344-5345 |
-LRB- |
denotes |
( |
T12877 |
5356-5367 |
NNP |
denotes |
Corporation |
T12878 |
5345-5349 |
NNP |
denotes |
Gene |
T12879 |
5350-5355 |
NNPS |
denotes |
Codes |
T12880 |
5367-5369 |
, |
denotes |
, |
T12881 |
5369-5393 |
NN |
denotes |
http://www.genecodes.com |
T12882 |
5393-5394 |
-RRB- |
denotes |
) |
T12883 |
5394-5395 |
. |
denotes |
. |
T12884 |
5395-5556 |
sentence |
denotes |
Genome-wide SNP genotyping was performed using Infinium HumanHap550 SNP genotyping chips as per the manufacturer's protocol (Illumina, http://www.illumina.com). |
T12885 |
5396-5402 |
NN |
denotes |
Genome |
T12886 |
5403-5407 |
JJ |
denotes |
wide |
T12887 |
5402-5403 |
HYPH |
denotes |
- |
T12888 |
5412-5422 |
NN |
denotes |
genotyping |
T12889 |
5408-5411 |
NN |
denotes |
SNP |
T12890 |
5427-5436 |
VBN |
denotes |
performed |
T12891 |
5423-5426 |
VBD |
denotes |
was |
T12892 |
5437-5442 |
VBG |
denotes |
using |
T12893 |
5443-5451 |
NNP |
denotes |
Infinium |
T12894 |
5464-5467 |
NN |
denotes |
SNP |
T12895 |
5452-5463 |
NN |
denotes |
HumanHap550 |
T12896 |
5479-5484 |
NNS |
denotes |
chips |
T12897 |
5468-5478 |
NN |
denotes |
genotyping |
T12898 |
5485-5487 |
IN |
denotes |
as |
T12899 |
5488-5491 |
IN |
denotes |
per |
T12900 |
5492-5495 |
DT |
denotes |
the |
T12901 |
5496-5508 |
NN |
denotes |
manufacturer |
T12902 |
5511-5519 |
NN |
denotes |
protocol |
T12903 |
5508-5510 |
POS |
denotes |
's |
T12904 |
5520-5521 |
-LRB- |
denotes |
( |
T12905 |
5521-5529 |
NNP |
denotes |
Illumina |
T12906 |
5529-5531 |
, |
denotes |
, |
T12907 |
5531-5554 |
NN |
denotes |
http://www.illumina.com |
T12908 |
5554-5555 |
-RRB- |
denotes |
) |
T12909 |
5555-5556 |
. |
denotes |
. |
T12910 |
5556-5597 |
sentence |
denotes |
This product assays 555,352 unique SNPs. |
T12911 |
5557-5561 |
DT |
denotes |
This |
T12912 |
5562-5569 |
NN |
denotes |
product |
T12913 |
5570-5576 |
VBZ |
denotes |
assays |
T12914 |
5577-5584 |
CD |
denotes |
555,352 |
T12915 |
5592-5596 |
NNS |
denotes |
SNPs |
T12916 |
5585-5591 |
JJ |
denotes |
unique |
T12917 |
5596-5597 |
. |
denotes |
. |
T12918 |
5597-5686 |
sentence |
denotes |
Data were collected using the Illumina BeadStation scanner and data collection software. |
T12919 |
5598-5602 |
NNS |
denotes |
Data |
T12920 |
5608-5617 |
VBN |
denotes |
collected |
T12921 |
5603-5607 |
VBD |
denotes |
were |
T12922 |
5618-5623 |
VBG |
denotes |
using |
T12923 |
5624-5627 |
DT |
denotes |
the |
T12924 |
5649-5656 |
NN |
denotes |
scanner |
T12925 |
5628-5636 |
NNP |
denotes |
Illumina |
T12926 |
5637-5648 |
NNP |
denotes |
BeadStation |
T12927 |
5657-5660 |
CC |
denotes |
and |
T12928 |
5661-5665 |
NNS |
denotes |
data |
T12929 |
5666-5676 |
NN |
denotes |
collection |
T12930 |
5677-5685 |
NN |
denotes |
software |
T12931 |
5685-5686 |
. |
denotes |
. |
T12932 |
5686-5885 |
sentence |
denotes |
Genotypes were produced using the genotyping module of BeadStudio (version 2.3.25; Illumina), and log R ratio and B allele frequency were visualized using the genome viewer tool within this package. |
T12933 |
5687-5696 |
NNS |
denotes |
Genotypes |
T12934 |
5702-5710 |
VBN |
denotes |
produced |
T12935 |
5697-5701 |
VBD |
denotes |
were |
T12936 |
5711-5716 |
VBG |
denotes |
using |
T12937 |
5717-5720 |
DT |
denotes |
the |
T12938 |
5732-5738 |
NN |
denotes |
module |
T12939 |
5721-5731 |
NN |
denotes |
genotyping |
T12940 |
5739-5741 |
IN |
denotes |
of |
T12941 |
5742-5752 |
NNP |
denotes |
BeadStudio |
T12942 |
5753-5754 |
-LRB- |
denotes |
( |
T12943 |
5754-5761 |
NN |
denotes |
version |
T12944 |
5762-5768 |
CD |
denotes |
2.3.25 |
T12945 |
5768-5769 |
: |
denotes |
; |
T12946 |
5770-5778 |
NNP |
denotes |
Illumina |
T12947 |
5778-5779 |
-RRB- |
denotes |
) |
T12948 |
5779-5781 |
, |
denotes |
, |
T12949 |
5781-5784 |
CC |
denotes |
and |
T12950 |
5785-5788 |
NN |
denotes |
log |
T12951 |
5789-5790 |
NN |
denotes |
R |
T12952 |
5791-5796 |
NN |
denotes |
ratio |
T12953 |
5825-5835 |
VBN |
denotes |
visualized |
T12954 |
5797-5800 |
CC |
denotes |
and |
T12955 |
5801-5802 |
NN |
denotes |
B |
T12956 |
5803-5809 |
NN |
denotes |
allele |
T12957 |
5810-5819 |
NN |
denotes |
frequency |
T12958 |
5820-5824 |
VBD |
denotes |
were |
T12959 |
5836-5841 |
VBG |
denotes |
using |
T12960 |
5842-5845 |
DT |
denotes |
the |
T12961 |
5860-5864 |
NN |
denotes |
tool |
T12962 |
5846-5852 |
NN |
denotes |
genome |
T12963 |
5853-5859 |
JJR |
denotes |
viewer |
T12964 |
5865-5871 |
IN |
denotes |
within |
T12965 |
5872-5876 |
DT |
denotes |
this |
T12966 |
5877-5884 |
NN |
denotes |
package |
T12967 |
5884-5885 |
. |
denotes |
. |
T12968 |
5885-6222 |
sentence |
denotes |
In order to rule out the possibility that the observed deletion within ITPR1 was a benign copy number variant we examined log R ratio and B allele frequency metrics of HumanHap550 genotyping data at this locus from 577 individuals of Northern European descent from North America and Europe, produced by us as a part of an ongoing study. |
T12969 |
5886-5888 |
IN |
denotes |
In |
T12970 |
5999-6007 |
VBD |
denotes |
examined |
T12971 |
5889-5894 |
NN |
denotes |
order |
T12972 |
5895-5897 |
TO |
denotes |
to |
T12973 |
5898-5902 |
VB |
denotes |
rule |
T12974 |
5903-5906 |
RP |
denotes |
out |
T12975 |
5907-5910 |
DT |
denotes |
the |
T12976 |
5911-5922 |
NN |
denotes |
possibility |
T12977 |
5923-5927 |
IN |
denotes |
that |
T12978 |
5963-5966 |
VBD |
denotes |
was |
T12979 |
5928-5931 |
DT |
denotes |
the |
T12980 |
5941-5949 |
NN |
denotes |
deletion |
T12981 |
5932-5940 |
VBN |
denotes |
observed |
T12982 |
5950-5956 |
IN |
denotes |
within |
T12983 |
5957-5962 |
NN |
denotes |
ITPR1 |
T12984 |
5967-5968 |
DT |
denotes |
a |
T12985 |
5988-5995 |
NN |
denotes |
variant |
T12986 |
5969-5975 |
JJ |
denotes |
benign |
T12987 |
5976-5980 |
NN |
denotes |
copy |
T12988 |
5981-5987 |
NN |
denotes |
number |
T12989 |
5996-5998 |
PRP |
denotes |
we |
T12990 |
6008-6011 |
NN |
denotes |
log |
T12991 |
6012-6013 |
NN |
denotes |
R |
T12992 |
6014-6019 |
NN |
denotes |
ratio |
T12993 |
6043-6050 |
NNS |
denotes |
metrics |
T12994 |
6020-6023 |
CC |
denotes |
and |
T12995 |
6024-6025 |
NN |
denotes |
B |
T12996 |
6026-6032 |
NN |
denotes |
allele |
T12997 |
6033-6042 |
NN |
denotes |
frequency |
T12998 |
6051-6053 |
IN |
denotes |
of |
T12999 |
6054-6065 |
NN |
denotes |
HumanHap550 |
T13000 |
6077-6081 |
NNS |
denotes |
data |
T13001 |
6066-6076 |
NN |
denotes |
genotyping |
T13002 |
6082-6084 |
IN |
denotes |
at |
T13003 |
6085-6089 |
DT |
denotes |
this |
T13004 |
6090-6095 |
NN |
denotes |
locus |
T13005 |
6096-6100 |
IN |
denotes |
from |
T13006 |
6101-6104 |
CD |
denotes |
577 |
T13007 |
6105-6116 |
NNS |
denotes |
individuals |
T13008 |
6117-6119 |
IN |
denotes |
of |
T13009 |
6120-6128 |
JJ |
denotes |
Northern |
T13010 |
6129-6137 |
JJ |
denotes |
European |
T13011 |
6138-6145 |
NN |
denotes |
descent |
T13012 |
6146-6150 |
IN |
denotes |
from |
T13013 |
6151-6156 |
NNP |
denotes |
North |
T13014 |
6157-6164 |
NNP |
denotes |
America |
T13015 |
6165-6168 |
CC |
denotes |
and |
T13016 |
6169-6175 |
NNP |
denotes |
Europe |
T13017 |
6175-6177 |
, |
denotes |
, |
T13018 |
6177-6185 |
VBN |
denotes |
produced |
T13019 |
6186-6188 |
IN |
denotes |
by |
T13020 |
6189-6191 |
PRP |
denotes |
us |
T13021 |
6192-6194 |
IN |
denotes |
as |
T13022 |
6195-6196 |
DT |
denotes |
a |
T13023 |
6197-6201 |
NN |
denotes |
part |
T13024 |
6202-6204 |
IN |
denotes |
of |
T13025 |
6205-6207 |
DT |
denotes |
an |
T13026 |
6216-6221 |
NN |
denotes |
study |
T13027 |
6208-6215 |
JJ |
denotes |
ongoing |
T13028 |
6221-6222 |
. |
denotes |
. |
T13029 |
6222-6493 |
sentence |
denotes |
In an attempt to narrow the unknown intervals flanking the deletion observed in family AUS1, we designed primers for 30 PCR amplifications that would generate overlapping fragments across the two bordering regions (primer sequence and conditions available upon request). |
T13030 |
6223-6225 |
IN |
denotes |
In |
T13031 |
6319-6327 |
VBD |
denotes |
designed |
T13032 |
6226-6228 |
DT |
denotes |
an |
T13033 |
6229-6236 |
NN |
denotes |
attempt |
T13034 |
6237-6239 |
TO |
denotes |
to |
T13035 |
6240-6246 |
VB |
denotes |
narrow |
T13036 |
6247-6250 |
DT |
denotes |
the |
T13037 |
6259-6268 |
NNS |
denotes |
intervals |
T13038 |
6251-6258 |
JJ |
denotes |
unknown |
T13039 |
6269-6277 |
VBG |
denotes |
flanking |
T13040 |
6278-6281 |
DT |
denotes |
the |
T13041 |
6282-6290 |
NN |
denotes |
deletion |
T13042 |
6291-6299 |
VBN |
denotes |
observed |
T13043 |
6300-6302 |
IN |
denotes |
in |
T13044 |
6303-6309 |
NN |
denotes |
family |
T13045 |
6310-6314 |
NN |
denotes |
AUS1 |
T13046 |
6314-6316 |
, |
denotes |
, |
T13047 |
6316-6318 |
PRP |
denotes |
we |
T13048 |
6328-6335 |
NNS |
denotes |
primers |
T13049 |
6336-6339 |
IN |
denotes |
for |
T13050 |
6340-6342 |
CD |
denotes |
30 |
T13051 |
6347-6361 |
NNS |
denotes |
amplifications |
T13052 |
6343-6346 |
NN |
denotes |
PCR |
T13053 |
6362-6366 |
WDT |
denotes |
that |
T13054 |
6373-6381 |
VB |
denotes |
generate |
T13055 |
6367-6372 |
MD |
denotes |
would |
T13056 |
6382-6393 |
VBG |
denotes |
overlapping |
T13057 |
6394-6403 |
NNS |
denotes |
fragments |
T13058 |
6404-6410 |
IN |
denotes |
across |
T13059 |
6411-6414 |
DT |
denotes |
the |
T13060 |
6429-6436 |
NNS |
denotes |
regions |
T13061 |
6415-6418 |
CD |
denotes |
two |
T13062 |
6419-6428 |
NN |
denotes |
bordering |
T13063 |
6437-6438 |
-LRB- |
denotes |
( |
T13064 |
6445-6453 |
NN |
denotes |
sequence |
T13065 |
6438-6444 |
NN |
denotes |
primer |
T13066 |
6454-6457 |
CC |
denotes |
and |
T13067 |
6458-6468 |
NNS |
denotes |
conditions |
T13068 |
6469-6478 |
JJ |
denotes |
available |
T13069 |
6479-6483 |
IN |
denotes |
upon |
T13070 |
6484-6491 |
NN |
denotes |
request |
T13071 |
6491-6492 |
-RRB- |
denotes |
) |
T13072 |
6492-6493 |
. |
denotes |
. |
T13073 |
6493-6615 |
sentence |
denotes |
There were ten primer pairs in the telomeric flanking region and 20 pairs in the centromeric flanking region (Figure S3). |
T13074 |
6494-6499 |
EX |
denotes |
There |
T13075 |
6500-6504 |
VBD |
denotes |
were |
T13076 |
6505-6508 |
CD |
denotes |
ten |
T13077 |
6516-6521 |
NNS |
denotes |
pairs |
T13078 |
6509-6515 |
NN |
denotes |
primer |
T13079 |
6522-6524 |
IN |
denotes |
in |
T13080 |
6525-6528 |
DT |
denotes |
the |
T13081 |
6548-6554 |
NN |
denotes |
region |
T13082 |
6529-6538 |
JJ |
denotes |
telomeric |
T13083 |
6539-6547 |
NN |
denotes |
flanking |
T13084 |
6555-6558 |
CC |
denotes |
and |
T13085 |
6559-6561 |
CD |
denotes |
20 |
T13086 |
6562-6567 |
NNS |
denotes |
pairs |
T13087 |
6568-6570 |
IN |
denotes |
in |
T13088 |
6571-6574 |
DT |
denotes |
the |
T13089 |
6596-6602 |
NN |
denotes |
region |
T13090 |
6575-6586 |
JJ |
denotes |
centromeric |
T13091 |
6587-6595 |
NN |
denotes |
flanking |
T13092 |
6603-6604 |
-LRB- |
denotes |
( |
T13093 |
6611-6613 |
NN |
denotes |
S3 |
T13094 |
6604-6610 |
NN |
denotes |
Figure |
T13095 |
6613-6614 |
-RRB- |
denotes |
) |
T13096 |
6614-6615 |
. |
denotes |
. |
T13097 |
6615-6787 |
sentence |
denotes |
On average each product was ~750 bp in size, and amplifications were performed using genomic DNA from each of the three affected individuals (family members 6, 7, and 19). |
T13098 |
6616-6618 |
IN |
denotes |
On |
T13099 |
6640-6643 |
VBD |
denotes |
was |
T13100 |
6619-6626 |
JJ |
denotes |
average |
T13101 |
6627-6631 |
DT |
denotes |
each |
T13102 |
6632-6639 |
NN |
denotes |
product |
T13103 |
6644-6645 |
SYM |
denotes |
~ |
T13104 |
6645-6648 |
CD |
denotes |
750 |
T13105 |
6649-6651 |
NN |
denotes |
bp |
T13106 |
6652-6654 |
IN |
denotes |
in |
T13107 |
6655-6659 |
NN |
denotes |
size |
T13108 |
6659-6661 |
, |
denotes |
, |
T13109 |
6661-6664 |
CC |
denotes |
and |
T13110 |
6665-6679 |
NNS |
denotes |
amplifications |
T13111 |
6685-6694 |
VBN |
denotes |
performed |
T13112 |
6680-6684 |
VBD |
denotes |
were |
T13113 |
6695-6700 |
VBG |
denotes |
using |
T13114 |
6701-6708 |
JJ |
denotes |
genomic |
T13115 |
6709-6712 |
NN |
denotes |
DNA |
T13116 |
6713-6717 |
IN |
denotes |
from |
T13117 |
6718-6722 |
DT |
denotes |
each |
T13118 |
6723-6725 |
IN |
denotes |
of |
T13119 |
6726-6729 |
DT |
denotes |
the |
T13120 |
6745-6756 |
NNS |
denotes |
individuals |
T13121 |
6730-6735 |
CD |
denotes |
three |
T13122 |
6736-6744 |
VBN |
denotes |
affected |
T13123 |
6757-6758 |
-LRB- |
denotes |
( |
T13124 |
6773-6774 |
CD |
denotes |
6 |
T13125 |
6758-6764 |
NN |
denotes |
family |
T13126 |
6765-6772 |
NNS |
denotes |
members |
T13127 |
6774-6776 |
, |
denotes |
, |
T13128 |
6776-6777 |
CD |
denotes |
7 |
T13129 |
6777-6779 |
, |
denotes |
, |
T13130 |
6779-6782 |
CC |
denotes |
and |
T13131 |
6783-6785 |
CD |
denotes |
19 |
T13132 |
6785-6786 |
-RRB- |
denotes |
) |
T13133 |
6786-6787 |
. |
denotes |
. |
T13134 |
6787-6981 |
sentence |
denotes |
Dye-terminator sequencing of each product was performed using the forward and reverse primers designed for amplification; running and analysis of each fragment was performed as described above. |
T13135 |
6788-6791 |
NN |
denotes |
Dye |
T13136 |
6792-6802 |
NN |
denotes |
terminator |
T13137 |
6791-6792 |
HYPH |
denotes |
- |
T13138 |
6803-6813 |
NN |
denotes |
sequencing |
T13139 |
6834-6843 |
VBN |
denotes |
performed |
T13140 |
6814-6816 |
IN |
denotes |
of |
T13141 |
6817-6821 |
DT |
denotes |
each |
T13142 |
6822-6829 |
NN |
denotes |
product |
T13143 |
6830-6833 |
VBD |
denotes |
was |
T13144 |
6952-6961 |
VBN |
denotes |
performed |
T13145 |
6844-6849 |
VBG |
denotes |
using |
T13146 |
6850-6853 |
DT |
denotes |
the |
T13147 |
6874-6881 |
NNS |
denotes |
primers |
T13148 |
6854-6861 |
JJ |
denotes |
forward |
T13149 |
6862-6865 |
CC |
denotes |
and |
T13150 |
6866-6873 |
JJ |
denotes |
reverse |
T13151 |
6882-6890 |
VBN |
denotes |
designed |
T13152 |
6891-6894 |
IN |
denotes |
for |
T13153 |
6895-6908 |
NN |
denotes |
amplification |
T13154 |
6908-6909 |
: |
denotes |
; |
T13155 |
6910-6917 |
VBG |
denotes |
running |
T13156 |
6922-6930 |
NN |
denotes |
analysis |
T13157 |
6918-6921 |
CC |
denotes |
and |
T13158 |
6931-6933 |
IN |
denotes |
of |
T13159 |
6934-6938 |
DT |
denotes |
each |
T13160 |
6939-6947 |
NN |
denotes |
fragment |
T13161 |
6948-6951 |
VBD |
denotes |
was |
T13162 |
6962-6964 |
IN |
denotes |
as |
T13163 |
6965-6974 |
VBN |
denotes |
described |
T13164 |
6975-6980 |
RB |
denotes |
above |
T13165 |
6980-6981 |
. |
denotes |
. |
T13166 |
6981-7434 |
sentence |
denotes |
Amplification of a fragment from a normal diploid genome was denoted by the presence of a heterozygous polymorphism; amplification of a fragment from a region of the genome harboring a heterozygous genomic deletion was inferred when homozygosity for the major allele and the minor allele were noted among the three affected family members (i.e., this is inconsistent with Mendelian inheritance in related individuals known to share a common haplotype). |
T13167 |
6982-6995 |
NN |
denotes |
Amplification |
T13168 |
7043-7050 |
VBN |
denotes |
denoted |
T13169 |
6996-6998 |
IN |
denotes |
of |
T13170 |
6999-7000 |
DT |
denotes |
a |
T13171 |
7001-7009 |
NN |
denotes |
fragment |
T13172 |
7010-7014 |
IN |
denotes |
from |
T13173 |
7015-7016 |
DT |
denotes |
a |
T13174 |
7032-7038 |
NN |
denotes |
genome |
T13175 |
7017-7023 |
JJ |
denotes |
normal |
T13176 |
7024-7031 |
JJ |
denotes |
diploid |
T13177 |
7039-7042 |
VBD |
denotes |
was |
T13178 |
7201-7209 |
VBN |
denotes |
inferred |
T13179 |
7051-7053 |
IN |
denotes |
by |
T13180 |
7054-7057 |
DT |
denotes |
the |
T13181 |
7058-7066 |
NN |
denotes |
presence |
T13182 |
7067-7069 |
IN |
denotes |
of |
T13183 |
7070-7071 |
DT |
denotes |
a |
T13184 |
7085-7097 |
NN |
denotes |
polymorphism |
T13185 |
7072-7084 |
JJ |
denotes |
heterozygous |
T13186 |
7097-7098 |
: |
denotes |
; |
T13187 |
7099-7112 |
NN |
denotes |
amplification |
T13188 |
7113-7115 |
IN |
denotes |
of |
T13189 |
7116-7117 |
DT |
denotes |
a |
T13190 |
7118-7126 |
NN |
denotes |
fragment |
T13191 |
7127-7131 |
IN |
denotes |
from |
T13192 |
7132-7133 |
DT |
denotes |
a |
T13193 |
7134-7140 |
NN |
denotes |
region |
T13194 |
7141-7143 |
IN |
denotes |
of |
T13195 |
7144-7147 |
DT |
denotes |
the |
T13196 |
7148-7154 |
NN |
denotes |
genome |
T13197 |
7155-7164 |
VBG |
denotes |
harboring |
T13198 |
7165-7166 |
DT |
denotes |
a |
T13199 |
7188-7196 |
NN |
denotes |
deletion |
T13200 |
7167-7179 |
JJ |
denotes |
heterozygous |
T13201 |
7180-7187 |
JJ |
denotes |
genomic |
T13202 |
7197-7200 |
VBD |
denotes |
was |
T13203 |
7210-7214 |
WRB |
denotes |
when |
T13204 |
7275-7280 |
VBN |
denotes |
noted |
T13205 |
7215-7227 |
NN |
denotes |
homozygosity |
T13206 |
7228-7231 |
IN |
denotes |
for |
T13207 |
7232-7235 |
DT |
denotes |
the |
T13208 |
7242-7248 |
NN |
denotes |
allele |
T13209 |
7236-7241 |
JJ |
denotes |
major |
T13210 |
7249-7252 |
CC |
denotes |
and |
T13211 |
7253-7256 |
DT |
denotes |
the |
T13212 |
7263-7269 |
NN |
denotes |
allele |
T13213 |
7257-7262 |
JJ |
denotes |
minor |
T13214 |
7270-7274 |
VBD |
denotes |
were |
T13215 |
7281-7286 |
IN |
denotes |
among |
T13216 |
7287-7290 |
DT |
denotes |
the |
T13217 |
7313-7320 |
NNS |
denotes |
members |
T13218 |
7291-7296 |
CD |
denotes |
three |
T13219 |
7297-7305 |
VBN |
denotes |
affected |
T13220 |
7306-7312 |
NN |
denotes |
family |
T13221 |
7321-7322 |
-LRB- |
denotes |
( |
T13222 |
7333-7335 |
VBZ |
denotes |
is |
T13223 |
7322-7326 |
FW |
denotes |
i.e. |
T13224 |
7326-7328 |
, |
denotes |
, |
T13225 |
7328-7332 |
DT |
denotes |
this |
T13226 |
7336-7348 |
JJ |
denotes |
inconsistent |
T13227 |
7349-7353 |
IN |
denotes |
with |
T13228 |
7354-7363 |
JJ |
denotes |
Mendelian |
T13229 |
7364-7375 |
NN |
denotes |
inheritance |
T13230 |
7376-7378 |
IN |
denotes |
in |
T13231 |
7379-7386 |
JJ |
denotes |
related |
T13232 |
7387-7398 |
NNS |
denotes |
individuals |
T13233 |
7399-7404 |
VBN |
denotes |
known |
T13234 |
7405-7407 |
TO |
denotes |
to |
T13235 |
7408-7413 |
VB |
denotes |
share |
T13236 |
7414-7415 |
DT |
denotes |
a |
T13237 |
7423-7432 |
NN |
denotes |
haplotype |
T13238 |
7416-7422 |
JJ |
denotes |
common |
T13239 |
7432-7433 |
-RRB- |
denotes |
) |
T13240 |
7433-7434 |
. |
denotes |
. |
T13241 |
7434-7623 |
sentence |
denotes |
Using the data from the experiments described above we were able to limit the size of unknown regions flanking the deletion to ~4 kb on the telomeric side and 7 kb on the centromeric side. |
T13242 |
7435-7440 |
VBG |
denotes |
Using |
T13243 |
7490-7494 |
VBD |
denotes |
were |
T13244 |
7441-7444 |
DT |
denotes |
the |
T13245 |
7445-7449 |
NNS |
denotes |
data |
T13246 |
7450-7454 |
IN |
denotes |
from |
T13247 |
7455-7458 |
DT |
denotes |
the |
T13248 |
7459-7470 |
NNS |
denotes |
experiments |
T13249 |
7471-7480 |
VBN |
denotes |
described |
T13250 |
7481-7486 |
RB |
denotes |
above |
T13251 |
7487-7489 |
PRP |
denotes |
we |
T13252 |
7495-7499 |
JJ |
denotes |
able |
T13253 |
7500-7502 |
TO |
denotes |
to |
T13254 |
7503-7508 |
VB |
denotes |
limit |
T13255 |
7509-7512 |
DT |
denotes |
the |
T13256 |
7513-7517 |
NN |
denotes |
size |
T13257 |
7518-7520 |
IN |
denotes |
of |
T13258 |
7521-7528 |
JJ |
denotes |
unknown |
T13259 |
7529-7536 |
NNS |
denotes |
regions |
T13260 |
7537-7545 |
VBG |
denotes |
flanking |
T13261 |
7546-7549 |
DT |
denotes |
the |
T13262 |
7550-7558 |
NN |
denotes |
deletion |
T13263 |
7559-7561 |
IN |
denotes |
to |
T13264 |
7562-7563 |
SYM |
denotes |
~ |
T13265 |
7563-7564 |
CD |
denotes |
4 |
T13266 |
7565-7567 |
NN |
denotes |
kb |
T13267 |
7568-7570 |
IN |
denotes |
on |
T13268 |
7571-7574 |
DT |
denotes |
the |
T13269 |
7585-7589 |
NN |
denotes |
side |
T13270 |
7575-7584 |
JJ |
denotes |
telomeric |
T13271 |
7590-7593 |
CC |
denotes |
and |
T13272 |
7594-7595 |
CD |
denotes |
7 |
T13273 |
7596-7598 |
NN |
denotes |
kb |
T13274 |
7599-7601 |
IN |
denotes |
on |
T13275 |
7602-7605 |
DT |
denotes |
the |
T13276 |
7618-7622 |
NN |
denotes |
side |
T13277 |
7606-7617 |
JJ |
denotes |
centromeric |
T13278 |
7622-7623 |
. |
denotes |
. |
T13279 |
7623-7967 |
sentence |
denotes |
All combinations of forward primers from the newly defined region flanking the deletion on the telomeric side with reverse primers from the newly defined region flanking the deletion on the centromeric side were used in PCR amplification reactions performed with DNA from the three affected family members and single unaffected family members. |
T13280 |
7624-7627 |
DT |
denotes |
All |
T13281 |
7628-7640 |
NNS |
denotes |
combinations |
T13282 |
7836-7840 |
VBN |
denotes |
used |
T13283 |
7641-7643 |
IN |
denotes |
of |
T13284 |
7644-7651 |
JJ |
denotes |
forward |
T13285 |
7652-7659 |
NNS |
denotes |
primers |
T13286 |
7660-7664 |
IN |
denotes |
from |
T13287 |
7665-7668 |
DT |
denotes |
the |
T13288 |
7683-7689 |
NN |
denotes |
region |
T13289 |
7669-7674 |
RB |
denotes |
newly |
T13290 |
7675-7682 |
VBN |
denotes |
defined |
T13291 |
7690-7698 |
VBG |
denotes |
flanking |
T13292 |
7699-7702 |
DT |
denotes |
the |
T13293 |
7703-7711 |
NN |
denotes |
deletion |
T13294 |
7712-7714 |
IN |
denotes |
on |
T13295 |
7715-7718 |
DT |
denotes |
the |
T13296 |
7729-7733 |
NN |
denotes |
side |
T13297 |
7719-7728 |
JJ |
denotes |
telomeric |
T13298 |
7734-7738 |
IN |
denotes |
with |
T13299 |
7739-7746 |
JJ |
denotes |
reverse |
T13300 |
7747-7754 |
NNS |
denotes |
primers |
T13301 |
7755-7759 |
IN |
denotes |
from |
T13302 |
7760-7763 |
DT |
denotes |
the |
T13303 |
7778-7784 |
NN |
denotes |
region |
T13304 |
7764-7769 |
RB |
denotes |
newly |
T13305 |
7770-7777 |
VBN |
denotes |
defined |
T13306 |
7785-7793 |
VBG |
denotes |
flanking |
T13307 |
7794-7797 |
DT |
denotes |
the |
T13308 |
7798-7806 |
NN |
denotes |
deletion |
T13309 |
7807-7809 |
IN |
denotes |
on |
T13310 |
7810-7813 |
DT |
denotes |
the |
T13311 |
7826-7830 |
NN |
denotes |
side |
T13312 |
7814-7825 |
JJ |
denotes |
centromeric |
T13313 |
7831-7835 |
VBD |
denotes |
were |
T13314 |
7841-7843 |
IN |
denotes |
in |
T13315 |
7844-7847 |
NN |
denotes |
PCR |
T13316 |
7848-7861 |
NN |
denotes |
amplification |
T13317 |
7862-7871 |
NNS |
denotes |
reactions |
T13318 |
7872-7881 |
VBN |
denotes |
performed |
T13319 |
7882-7886 |
IN |
denotes |
with |
T13320 |
7887-7890 |
NN |
denotes |
DNA |
T13321 |
7891-7895 |
IN |
denotes |
from |
T13322 |
7896-7899 |
DT |
denotes |
the |
T13323 |
7922-7929 |
NNS |
denotes |
members |
T13324 |
7900-7905 |
CD |
denotes |
three |
T13325 |
7906-7914 |
VBN |
denotes |
affected |
T13326 |
7915-7921 |
NN |
denotes |
family |
T13327 |
7930-7933 |
CC |
denotes |
and |
T13328 |
7934-7940 |
JJ |
denotes |
single |
T13329 |
7959-7966 |
NNS |
denotes |
members |
T13330 |
7941-7951 |
JJ |
denotes |
unaffected |
T13331 |
7952-7958 |
NN |
denotes |
family |
T13332 |
7966-7967 |
. |
denotes |
. |
T13333 |
7967-8083 |
sentence |
denotes |
This experiment was performed in an attempt to amplify across the deleted fragment and define the exact breakpoint. |
T13334 |
7968-7972 |
DT |
denotes |
This |
T13335 |
7973-7983 |
NN |
denotes |
experiment |
T13336 |
7988-7997 |
VBN |
denotes |
performed |
T13337 |
7984-7987 |
VBD |
denotes |
was |
T13338 |
7998-8000 |
IN |
denotes |
in |
T13339 |
8001-8003 |
DT |
denotes |
an |
T13340 |
8004-8011 |
NN |
denotes |
attempt |
T13341 |
8012-8014 |
TO |
denotes |
to |
T13342 |
8015-8022 |
VB |
denotes |
amplify |
T13343 |
8023-8029 |
IN |
denotes |
across |
T13344 |
8030-8033 |
DT |
denotes |
the |
T13345 |
8042-8050 |
NN |
denotes |
fragment |
T13346 |
8034-8041 |
VBN |
denotes |
deleted |
T13347 |
8051-8054 |
CC |
denotes |
and |
T13348 |
8055-8061 |
VB |
denotes |
define |
T13349 |
8062-8065 |
DT |
denotes |
the |
T13350 |
8072-8082 |
NN |
denotes |
breakpoint |
T13351 |
8066-8071 |
JJ |
denotes |
exact |
T13352 |
8082-8083 |
. |
denotes |
. |
T13353 |
8083-8291 |
sentence |
denotes |
A single fragment was obtained from the third forward primer from the telomeric side (T3f 5′-TGAATGCTCAATTTTCCAGC-3′) with the 11th reverse primer from the centromeric side (C11r 5′-GGGAAAATGGATAGAGGGTG-3′). |
T13354 |
8084-8085 |
DT |
denotes |
A |
T13355 |
8093-8101 |
NN |
denotes |
fragment |
T13356 |
8086-8092 |
JJ |
denotes |
single |
T13357 |
8106-8114 |
VBN |
denotes |
obtained |
T13358 |
8102-8105 |
VBD |
denotes |
was |
T13359 |
8115-8119 |
IN |
denotes |
from |
T13360 |
8120-8123 |
DT |
denotes |
the |
T13361 |
8138-8144 |
NN |
denotes |
primer |
T13362 |
8124-8129 |
JJ |
denotes |
third |
T13363 |
8130-8137 |
JJ |
denotes |
forward |
T13364 |
8145-8149 |
IN |
denotes |
from |
T13365 |
8150-8153 |
DT |
denotes |
the |
T13366 |
8164-8168 |
NN |
denotes |
side |
T13367 |
8154-8163 |
JJ |
denotes |
telomeric |
T13368 |
8169-8170 |
-LRB- |
denotes |
( |
T13369 |
8177-8197 |
NN |
denotes |
TGAATGCTCAATTTTCCAGC |
T13370 |
8170-8173 |
NN |
denotes |
T3f |
T13371 |
8174-8175 |
CD |
denotes |
5 |
T13372 |
8175-8176 |
SYM |
denotes |
′ |
T13373 |
8176-8177 |
HYPH |
denotes |
- |
T13374 |
8197-8198 |
HYPH |
denotes |
- |
T13375 |
8198-8199 |
CD |
denotes |
3 |
T13376 |
8199-8200 |
SYM |
denotes |
′ |
T13377 |
8200-8201 |
-RRB- |
denotes |
) |
T13378 |
8202-8206 |
IN |
denotes |
with |
T13379 |
8207-8210 |
DT |
denotes |
the |
T13380 |
8224-8230 |
NN |
denotes |
primer |
T13381 |
8211-8215 |
JJ |
denotes |
11th |
T13382 |
8216-8223 |
JJ |
denotes |
reverse |
T13383 |
8231-8235 |
IN |
denotes |
from |
T13384 |
8236-8239 |
DT |
denotes |
the |
T13385 |
8252-8256 |
NN |
denotes |
side |
T13386 |
8240-8251 |
JJ |
denotes |
centromeric |
T13387 |
8257-8258 |
-LRB- |
denotes |
( |
T13388 |
8266-8286 |
NN |
denotes |
GGGAAAATGGATAGAGGGTG |
T13389 |
8258-8262 |
NN |
denotes |
C11r |
T13390 |
8263-8264 |
CD |
denotes |
5 |
T13391 |
8264-8265 |
SYM |
denotes |
′ |
T13392 |
8265-8266 |
HYPH |
denotes |
- |
T13393 |
8286-8287 |
HYPH |
denotes |
- |
T13394 |
8287-8288 |
CD |
denotes |
3 |
T13395 |
8288-8289 |
SYM |
denotes |
′ |
T13396 |
8289-8290 |
-RRB- |
denotes |
) |
T13397 |
8290-8291 |
. |
denotes |
. |
T13398 |
8291-8418 |
sentence |
denotes |
The fragment, which is 953 bp in size, was sequenced as described above and compared to the current build of the human genome. |
T13399 |
8292-8295 |
DT |
denotes |
The |
T13400 |
8296-8304 |
NN |
denotes |
fragment |
T13401 |
8335-8344 |
VBN |
denotes |
sequenced |
T13402 |
8304-8306 |
, |
denotes |
, |
T13403 |
8306-8311 |
WDT |
denotes |
which |
T13404 |
8312-8314 |
VBZ |
denotes |
is |
T13405 |
8315-8318 |
CD |
denotes |
953 |
T13406 |
8319-8321 |
NN |
denotes |
bp |
T13407 |
8322-8324 |
IN |
denotes |
in |
T13408 |
8325-8329 |
NN |
denotes |
size |
T13409 |
8329-8331 |
, |
denotes |
, |
T13410 |
8331-8334 |
VBD |
denotes |
was |
T13411 |
8345-8347 |
IN |
denotes |
as |
T13412 |
8348-8357 |
VBN |
denotes |
described |
T13413 |
8358-8363 |
RB |
denotes |
above |
T13414 |
8364-8367 |
CC |
denotes |
and |
T13415 |
8368-8376 |
VBN |
denotes |
compared |
T13416 |
8377-8379 |
IN |
denotes |
to |
T13417 |
8380-8383 |
DT |
denotes |
the |
T13418 |
8392-8397 |
NN |
denotes |
build |
T13419 |
8384-8391 |
JJ |
denotes |
current |
T13420 |
8398-8400 |
IN |
denotes |
of |
T13421 |
8401-8404 |
DT |
denotes |
the |
T13422 |
8411-8417 |
NN |
denotes |
genome |
T13423 |
8405-8410 |
JJ |
denotes |
human |
T13424 |
8417-8418 |
. |
denotes |
. |
T13425 |
8418-8813 |
sentence |
denotes |
A similar series of experiments was performed to identify the deletion breakpoints in families H27 and H33; we were able to amplify a 369-bp PCR product across the breakpoint found in affected members of family H27 using primer pair H27-11F 5′-GACCTCAAGAAGGCATGAATAC-3′ and H27-3R 5′-ATGGTGGCCAGGTACACAAG-3′ (Figure S4), but to date we have been unable to identify the breakpoint in family H33. |
T13426 |
8419-8420 |
DT |
denotes |
A |
T13427 |
8429-8435 |
NN |
denotes |
series |
T13428 |
8421-8428 |
JJ |
denotes |
similar |
T13429 |
8455-8464 |
VBN |
denotes |
performed |
T13430 |
8436-8438 |
IN |
denotes |
of |
T13431 |
8439-8450 |
NNS |
denotes |
experiments |
T13432 |
8451-8454 |
VBD |
denotes |
was |
T13433 |
8530-8534 |
VBD |
denotes |
were |
T13434 |
8465-8467 |
TO |
denotes |
to |
T13435 |
8468-8476 |
VB |
denotes |
identify |
T13436 |
8477-8480 |
DT |
denotes |
the |
T13437 |
8490-8501 |
NNS |
denotes |
breakpoints |
T13438 |
8481-8489 |
NN |
denotes |
deletion |
T13439 |
8502-8504 |
IN |
denotes |
in |
T13440 |
8505-8513 |
NNS |
denotes |
families |
T13441 |
8514-8517 |
NN |
denotes |
H27 |
T13442 |
8518-8521 |
CC |
denotes |
and |
T13443 |
8522-8525 |
NN |
denotes |
H33 |
T13444 |
8525-8526 |
: |
denotes |
; |
T13445 |
8527-8529 |
PRP |
denotes |
we |
T13446 |
8535-8539 |
JJ |
denotes |
able |
T13447 |
8540-8542 |
TO |
denotes |
to |
T13448 |
8543-8550 |
VB |
denotes |
amplify |
T13449 |
8551-8552 |
DT |
denotes |
a |
T13450 |
8564-8571 |
NN |
denotes |
product |
T13451 |
8553-8556 |
CD |
denotes |
369 |
T13452 |
8557-8559 |
NN |
denotes |
bp |
T13453 |
8556-8557 |
HYPH |
denotes |
- |
T13454 |
8560-8563 |
NN |
denotes |
PCR |
T13455 |
8572-8578 |
IN |
denotes |
across |
T13456 |
8579-8582 |
DT |
denotes |
the |
T13457 |
8583-8593 |
NN |
denotes |
breakpoint |
T13458 |
8594-8599 |
VBN |
denotes |
found |
T13459 |
8600-8602 |
IN |
denotes |
in |
T13460 |
8603-8611 |
VBN |
denotes |
affected |
T13461 |
8612-8619 |
NNS |
denotes |
members |
T13462 |
8620-8622 |
IN |
denotes |
of |
T13463 |
8623-8629 |
NN |
denotes |
family |
T13464 |
8630-8633 |
NN |
denotes |
H27 |
T13465 |
8634-8639 |
VBG |
denotes |
using |
T13466 |
8640-8646 |
NN |
denotes |
primer |
T13467 |
8647-8651 |
NN |
denotes |
pair |
T13468 |
8652-8655 |
NN |
denotes |
H27 |
T13469 |
8656-8659 |
NN |
denotes |
11F |
T13470 |
8655-8656 |
HYPH |
denotes |
- |
T13471 |
8663-8685 |
NN |
denotes |
GACCTCAAGAAGGCATGAATAC |
T13472 |
8660-8661 |
CD |
denotes |
5 |
T13473 |
8661-8662 |
SYM |
denotes |
′ |
T13474 |
8662-8663 |
HYPH |
denotes |
- |
T13475 |
8685-8686 |
HYPH |
denotes |
- |
T13476 |
8686-8687 |
CD |
denotes |
3 |
T13477 |
8687-8688 |
SYM |
denotes |
′ |
T13478 |
8689-8692 |
CC |
denotes |
and |
T13479 |
8693-8696 |
NN |
denotes |
H27 |
T13480 |
8697-8699 |
NN |
denotes |
3R |
T13481 |
8696-8697 |
HYPH |
denotes |
- |
T13482 |
8703-8723 |
NN |
denotes |
ATGGTGGCCAGGTACACAAG |
T13483 |
8700-8701 |
CD |
denotes |
5 |
T13484 |
8701-8702 |
SYM |
denotes |
′ |
T13485 |
8702-8703 |
HYPH |
denotes |
- |
T13486 |
8723-8724 |
HYPH |
denotes |
- |
T13487 |
8724-8725 |
CD |
denotes |
3 |
T13488 |
8725-8726 |
SYM |
denotes |
′ |
T13489 |
8727-8728 |
-LRB- |
denotes |
( |
T13490 |
8735-8737 |
NN |
denotes |
S4 |
T13491 |
8728-8734 |
NN |
denotes |
Figure |
T13492 |
8737-8738 |
-RRB- |
denotes |
) |
T13493 |
8738-8740 |
, |
denotes |
, |
T13494 |
8740-8743 |
CC |
denotes |
but |
T13495 |
8744-8746 |
IN |
denotes |
to |
T13496 |
8760-8764 |
VBN |
denotes |
been |
T13497 |
8747-8751 |
NN |
denotes |
date |
T13498 |
8752-8754 |
PRP |
denotes |
we |
T13499 |
8755-8759 |
VBP |
denotes |
have |
T13500 |
8765-8771 |
JJ |
denotes |
unable |
T13501 |
8772-8774 |
TO |
denotes |
to |
T13502 |
8775-8783 |
VB |
denotes |
identify |
T13503 |
8784-8787 |
DT |
denotes |
the |
T13504 |
8788-8798 |
NN |
denotes |
breakpoint |
T13505 |
8799-8801 |
IN |
denotes |
in |
T13506 |
8802-8808 |
NN |
denotes |
family |
T13507 |
8809-8812 |
NN |
denotes |
H33 |
T13508 |
8812-8813 |
. |
denotes |
. |
T13807 |
8815-8822 |
NNP |
denotes |
Western |
T13808 |
8823-8827 |
NN |
denotes |
blot |
T13809 |
8828-8836 |
NN |
denotes |
analysis |
T13810 |
8837-8839 |
IN |
denotes |
in |
T13811 |
8840-8845 |
NN |
denotes |
SCA15 |
T13812 |
8846-8854 |
NNS |
denotes |
patients |
T13813 |
8854-8855 |
. |
denotes |
. |
T13814 |
8855-9085 |
sentence |
denotes |
EBV immortalized lymphoblasts from three affected family members who carry the deletion and one family member without the mutation were used as a readily accessible source of protein; all samples came from members of family AUS1. |
T13815 |
8856-8859 |
NN |
denotes |
EBV |
T13816 |
8873-8885 |
NNS |
denotes |
lymphoblasts |
T13817 |
8860-8872 |
VBN |
denotes |
immortalized |
T13818 |
8992-8996 |
VBN |
denotes |
used |
T13819 |
8886-8890 |
IN |
denotes |
from |
T13820 |
8891-8896 |
CD |
denotes |
three |
T13821 |
8913-8920 |
NNS |
denotes |
members |
T13822 |
8897-8905 |
VBN |
denotes |
affected |
T13823 |
8906-8912 |
NN |
denotes |
family |
T13824 |
8921-8924 |
WP |
denotes |
who |
T13825 |
8925-8930 |
VBP |
denotes |
carry |
T13826 |
8931-8934 |
DT |
denotes |
the |
T13827 |
8935-8943 |
NN |
denotes |
deletion |
T13828 |
8944-8947 |
CC |
denotes |
and |
T13829 |
8948-8951 |
CD |
denotes |
one |
T13830 |
8959-8965 |
NN |
denotes |
member |
T13831 |
8952-8958 |
NN |
denotes |
family |
T13832 |
8966-8973 |
IN |
denotes |
without |
T13833 |
8974-8977 |
DT |
denotes |
the |
T13834 |
8978-8986 |
NN |
denotes |
mutation |
T13835 |
8987-8991 |
VBD |
denotes |
were |
T13836 |
9052-9056 |
VBD |
denotes |
came |
T13837 |
8997-8999 |
IN |
denotes |
as |
T13838 |
9000-9001 |
DT |
denotes |
a |
T13839 |
9021-9027 |
NN |
denotes |
source |
T13840 |
9002-9009 |
RB |
denotes |
readily |
T13841 |
9010-9020 |
JJ |
denotes |
accessible |
T13842 |
9028-9030 |
IN |
denotes |
of |
T13843 |
9031-9038 |
NN |
denotes |
protein |
T13844 |
9038-9039 |
: |
denotes |
; |
T13845 |
9040-9043 |
DT |
denotes |
all |
T13846 |
9044-9051 |
NNS |
denotes |
samples |
T13847 |
9057-9061 |
IN |
denotes |
from |
T13848 |
9062-9069 |
NNS |
denotes |
members |
T13849 |
9070-9072 |
IN |
denotes |
of |
T13850 |
9073-9079 |
NN |
denotes |
family |
T13851 |
9080-9084 |
NN |
denotes |
AUS1 |
T13852 |
9084-9085 |
. |
denotes |
. |
T13853 |
9085-9251 |
sentence |
denotes |
Protein extraction was performed using lysis buffer containing 1× TBS, 1% Triton X-100, and a cocktail of protease inhibitors (Roche) with overnight lysis at −80 °C. |
T13854 |
9086-9093 |
NN |
denotes |
Protein |
T13855 |
9094-9104 |
NN |
denotes |
extraction |
T13856 |
9109-9118 |
VBN |
denotes |
performed |
T13857 |
9105-9108 |
VBD |
denotes |
was |
T13858 |
9119-9124 |
VBG |
denotes |
using |
T13859 |
9125-9130 |
NN |
denotes |
lysis |
T13860 |
9131-9137 |
NN |
denotes |
buffer |
T13861 |
9138-9148 |
VBG |
denotes |
containing |
T13862 |
9149-9150 |
CD |
denotes |
1 |
T13863 |
9152-9155 |
NN |
denotes |
TBS |
T13864 |
9150-9151 |
SYM |
denotes |
× |
T13865 |
9155-9157 |
, |
denotes |
, |
T13866 |
9157-9158 |
CD |
denotes |
1 |
T13867 |
9158-9159 |
NN |
denotes |
% |
T13868 |
9167-9168 |
NN |
denotes |
X |
T13869 |
9160-9166 |
NN |
denotes |
Triton |
T13870 |
9168-9169 |
HYPH |
denotes |
- |
T13871 |
9169-9172 |
CD |
denotes |
100 |
T13872 |
9172-9174 |
, |
denotes |
, |
T13873 |
9174-9177 |
CC |
denotes |
and |
T13874 |
9178-9179 |
DT |
denotes |
a |
T13875 |
9180-9188 |
NN |
denotes |
cocktail |
T13876 |
9189-9191 |
IN |
denotes |
of |
T13877 |
9192-9200 |
NN |
denotes |
protease |
T13878 |
9201-9211 |
NNS |
denotes |
inhibitors |
T13879 |
9212-9213 |
-LRB- |
denotes |
( |
T13880 |
9213-9218 |
NNP |
denotes |
Roche |
T13881 |
9218-9219 |
-RRB- |
denotes |
) |
T13882 |
9220-9224 |
IN |
denotes |
with |
T13883 |
9225-9234 |
JJ |
denotes |
overnight |
T13884 |
9235-9240 |
NN |
denotes |
lysis |
T13885 |
9241-9243 |
IN |
denotes |
at |
T13886 |
9244-9245 |
SYM |
denotes |
− |
T13887 |
9245-9247 |
CD |
denotes |
80 |
T13888 |
9248-9250 |
NN |
denotes |
°C |
T13889 |
9250-9251 |
. |
denotes |
. |
T13890 |
9251-9428 |
sentence |
denotes |
Homogenates were diluted appropriately, mixed with 4× reducing sample buffer, and loaded onto 4%–12% precast gradient gels (NuPAGE, Invitrogen) for SDS-PAGE and immunoblotting. |
T13891 |
9252-9263 |
NNS |
denotes |
Homogenates |
T13892 |
9269-9276 |
VBN |
denotes |
diluted |
T13893 |
9264-9268 |
VBD |
denotes |
were |
T13894 |
9277-9290 |
RB |
denotes |
appropriately |
T13895 |
9290-9292 |
, |
denotes |
, |
T13896 |
9292-9297 |
VBN |
denotes |
mixed |
T13897 |
9298-9302 |
IN |
denotes |
with |
T13898 |
9303-9304 |
CD |
denotes |
4 |
T13899 |
9322-9328 |
NN |
denotes |
buffer |
T13900 |
9304-9305 |
SYM |
denotes |
× |
T13901 |
9306-9314 |
VBG |
denotes |
reducing |
T13902 |
9315-9321 |
NN |
denotes |
sample |
T13903 |
9328-9330 |
, |
denotes |
, |
T13904 |
9330-9333 |
CC |
denotes |
and |
T13905 |
9334-9340 |
VBN |
denotes |
loaded |
T13906 |
9341-9345 |
IN |
denotes |
onto |
T13907 |
9346-9347 |
CD |
denotes |
4 |
T13908 |
9347-9348 |
NN |
denotes |
% |
T13909 |
9370-9374 |
NNS |
denotes |
gels |
T13910 |
9348-9349 |
SYM |
denotes |
– |
T13911 |
9351-9352 |
NN |
denotes |
% |
T13912 |
9349-9351 |
CD |
denotes |
12 |
T13913 |
9353-9360 |
JJ |
denotes |
precast |
T13914 |
9361-9369 |
NN |
denotes |
gradient |
T13915 |
9375-9376 |
-LRB- |
denotes |
( |
T13916 |
9376-9382 |
NN |
denotes |
NuPAGE |
T13917 |
9382-9384 |
, |
denotes |
, |
T13918 |
9384-9394 |
NNP |
denotes |
Invitrogen |
T13919 |
9394-9395 |
-RRB- |
denotes |
) |
T13920 |
9396-9399 |
IN |
denotes |
for |
T13921 |
9400-9403 |
NN |
denotes |
SDS |
T13922 |
9404-9408 |
NN |
denotes |
PAGE |
T13923 |
9403-9404 |
HYPH |
denotes |
- |
T13924 |
9409-9412 |
CC |
denotes |
and |
T13925 |
9413-9427 |
NN |
denotes |
immunoblotting |
T13926 |
9427-9428 |
. |
denotes |
. |
T13927 |
9428-9524 |
sentence |
denotes |
The antibodies to ITPR1 (1:1,000) and ACTB (1:5,000) were used as recommended by manufacturers. |
T13928 |
9429-9432 |
DT |
denotes |
The |
T13929 |
9433-9443 |
NNS |
denotes |
antibodies |
T13930 |
9487-9491 |
VBN |
denotes |
used |
T13931 |
9444-9446 |
IN |
denotes |
to |
T13932 |
9447-9452 |
NN |
denotes |
ITPR1 |
T13933 |
9453-9454 |
-LRB- |
denotes |
( |
T13934 |
9454-9455 |
CD |
denotes |
1 |
T13935 |
9455-9456 |
SYM |
denotes |
: |
T13936 |
9456-9461 |
CD |
denotes |
1,000 |
T13937 |
9461-9462 |
-RRB- |
denotes |
) |
T13938 |
9463-9466 |
CC |
denotes |
and |
T13939 |
9467-9471 |
NN |
denotes |
ACTB |
T13940 |
9472-9473 |
-LRB- |
denotes |
( |
T13941 |
9473-9474 |
CD |
denotes |
1 |
T13942 |
9474-9475 |
SYM |
denotes |
: |
T13943 |
9475-9480 |
CD |
denotes |
5,000 |
T13944 |
9480-9481 |
-RRB- |
denotes |
) |
T13945 |
9482-9486 |
VBD |
denotes |
were |
T13946 |
9492-9494 |
IN |
denotes |
as |
T13947 |
9495-9506 |
VBN |
denotes |
recommended |
T13948 |
9507-9509 |
IN |
denotes |
by |
T13949 |
9510-9523 |
NNS |
denotes |
manufacturers |
T13950 |
9523-9524 |
. |
denotes |
. |
R2535 |
T8971 |
T8972 |
npadvmod |
Genome,wide |
R2536 |
T8972 |
T8974 |
amod |
wide,linkage |
R2537 |
T8973 |
T8972 |
punct |
-,wide |
R2538 |
T8975 |
T8974 |
prep |
in,linkage |
R2539 |
T8976 |
T8975 |
pobj |
mice,in |
R2540 |
T8977 |
T8974 |
punct |
.,linkage |
R2541 |
T8979 |
T8980 |
compound |
One,hundred |
R2542 |
T8980 |
T8981 |
nummod |
hundred,fragments |
R2543 |
T8981 |
T8985 |
nsubjpass |
fragments,amplified |
R2544 |
T8982 |
T8980 |
cc |
and,hundred |
R2545 |
T8983 |
T8980 |
conj |
twenty,hundred |
R2546 |
T8984 |
T8981 |
compound |
DNA,fragments |
R2547 |
T8986 |
T8985 |
auxpass |
were,amplified |
R2548 |
T8987 |
T8985 |
prep |
across,amplified |
R2549 |
T8988 |
T8989 |
det |
the,genome |
R2550 |
T8989 |
T8987 |
pobj |
genome,across |
R2551 |
T8990 |
T8985 |
punct |
", ",amplified |
R2552 |
T8991 |
T8985 |
npadvmod |
each,amplified |
R2553 |
T8992 |
T8991 |
acl |
selected,each |
R2554 |
T8993 |
T8994 |
aux |
to,contain |
R2555 |
T8994 |
T8992 |
advcl |
contain,selected |
R2556 |
T8995 |
T8996 |
nummod |
one,SNPs |
R2557 |
T8996 |
T8994 |
dobj |
SNPs,contain |
R2558 |
T8997 |
T8995 |
cc |
or,one |
R2559 |
T8998 |
T8995 |
conj |
more,one |
R2560 |
T8999 |
T9000 |
npadvmod |
strain,specific |
R2561 |
T9000 |
T8996 |
amod |
specific,SNPs |
R2562 |
T9001 |
T9000 |
punct |
-,specific |
R2563 |
T9002 |
T9003 |
dep |
that,differentiate |
R2564 |
T9003 |
T8996 |
relcl |
differentiate,SNPs |
R2565 |
T9004 |
T9003 |
aux |
would,differentiate |
R2566 |
T9005 |
T9003 |
prep |
between,differentiate |
R2567 |
T9006 |
T9007 |
nmod |
C57BL,6J |
R2568 |
T9007 |
T9009 |
nmod |
6J,strains |
R2569 |
T9008 |
T9007 |
punct |
/,6J |
R2570 |
T9009 |
T9005 |
pobj |
strains,between |
R2571 |
T9010 |
T9007 |
cc |
and,6J |
R2572 |
T9011 |
T9012 |
compound |
129x1,SvJ |
R2573 |
T9012 |
T9007 |
conj |
SvJ,6J |
R2574 |
T9013 |
T9012 |
punct |
/,SvJ |
R2575 |
T9014 |
T9009 |
amod |
inbred,strains |
R2576 |
T9015 |
T9016 |
punct |
[,12 |
R2577 |
T9016 |
T8985 |
parataxis |
12,amplified |
R2578 |
T9017 |
T9016 |
punct |
],12 |
R2579 |
T9018 |
T8985 |
punct |
.,amplified |
R2580 |
T9020 |
T9021 |
det |
Each,fragment |
R2581 |
T9021 |
T9022 |
nsubjpass |
fragment,amplified |
R2582 |
T9022 |
T9025 |
ccomp |
amplified,performed |
R2583 |
T9023 |
T9022 |
auxpass |
was,amplified |
R2584 |
T9024 |
T9022 |
advmod |
initially,amplified |
R2585 |
T9026 |
T9022 |
prep |
in,amplified |
R2586 |
T9027 |
T9028 |
nummod |
11,mice |
R2587 |
T9028 |
T9026 |
pobj |
mice,in |
R2588 |
T9029 |
T9028 |
amod |
affected,mice |
R2589 |
T9030 |
T9028 |
cc |
and,mice |
R2590 |
T9031 |
T9032 |
nummod |
nine,mice |
R2591 |
T9032 |
T9028 |
conj |
mice,mice |
R2592 |
T9033 |
T9032 |
amod |
unaffected,mice |
R2593 |
T9034 |
T9025 |
punct |
;,performed |
R2594 |
T9035 |
T9036 |
compound |
genotype,calling |
R2595 |
T9036 |
T9025 |
nsubjpass |
calling,performed |
R2596 |
T9037 |
T9025 |
auxpass |
was,performed |
R2597 |
T9038 |
T9025 |
prep |
by,performed |
R2598 |
T9039 |
T9040 |
compound |
dye,terminator |
R2599 |
T9040 |
T9042 |
compound |
terminator,sequencing |
R2600 |
T9041 |
T9040 |
punct |
-,terminator |
R2601 |
T9042 |
T9038 |
pobj |
sequencing,by |
R2602 |
T9043 |
T9042 |
prep |
of,sequencing |
R2603 |
T9044 |
T9045 |
det |
these,fragments |
R2604 |
T9045 |
T9043 |
pobj |
fragments,of |
R2605 |
T9046 |
T9025 |
punct |
.,performed |
R2606 |
T9048 |
T9049 |
compound |
Linkage,analysis |
R2607 |
T9049 |
T9050 |
nsubjpass |
analysis,performed |
R2608 |
T9051 |
T9049 |
acl |
using,analysis |
R2609 |
T9052 |
T9053 |
det |
these,data |
R2610 |
T9053 |
T9051 |
dobj |
data,using |
R2611 |
T9054 |
T9050 |
auxpass |
was,performed |
R2612 |
T9055 |
T9050 |
advcl |
using,performed |
R2613 |
T9056 |
T9055 |
dobj |
mlink,using |
R2614 |
T9057 |
T9058 |
punct |
[,13 |
R2615 |
T9058 |
T9055 |
parataxis |
13,using |
R2616 |
T9059 |
T9058 |
punct |
],13 |
R2617 |
T9060 |
T9050 |
punct |
", ",performed |
R2618 |
T9061 |
T9062 |
dep |
which,revealed |
R2619 |
T9062 |
T9050 |
advcl |
revealed,performed |
R2620 |
T9063 |
T9064 |
det |
a,linkage |
R2621 |
T9064 |
T9062 |
dobj |
linkage,revealed |
R2622 |
T9065 |
T9064 |
amod |
positive,linkage |
R2623 |
T9066 |
T9062 |
prep |
at,revealed |
R2624 |
T9067 |
T9068 |
compound |
Chromosome,6qE1 |
R2625 |
T9068 |
T9066 |
pobj |
6qE1,at |
R2626 |
T9069 |
T9062 |
punct |
", ",revealed |
R2627 |
T9070 |
T9062 |
prep |
on,revealed |
R2628 |
T9071 |
T9072 |
det |
the,background |
R2629 |
T9072 |
T9070 |
pobj |
background,on |
R2630 |
T9073 |
T9074 |
compound |
129x1,SvJ |
R2631 |
T9074 |
T9072 |
compound |
SvJ,background |
R2632 |
T9075 |
T9074 |
punct |
/,SvJ |
R2633 |
T9076 |
T9077 |
punct |
(,score |
R2634 |
T9077 |
T9072 |
parataxis |
score,background |
R2635 |
T9078 |
T9079 |
nummod |
two,point |
R2636 |
T9079 |
T9077 |
compound |
point,score |
R2637 |
T9080 |
T9079 |
punct |
-,point |
R2638 |
T9081 |
T9077 |
compound |
LOD,score |
R2639 |
T9082 |
T9077 |
nummod |
5.13,score |
R2640 |
T9083 |
T9077 |
prep |
at,score |
R2641 |
T9084 |
T9085 |
compound |
marker,20.MMHAP85FLG2 |
R2642 |
T9085 |
T9083 |
pobj |
20.MMHAP85FLG2,at |
R2643 |
T9086 |
T9077 |
punct |
),score |
R2644 |
T9087 |
T9050 |
punct |
.,performed |
R2645 |
T9089 |
T9090 |
prep |
In,performed |
R2646 |
T9091 |
T9092 |
det |
an,attempt |
R2647 |
T9092 |
T9089 |
pobj |
attempt,In |
R2648 |
T9093 |
T9094 |
aux |
to,narrow |
R2649 |
T9094 |
T9092 |
acl |
narrow,attempt |
R2650 |
T9095 |
T9096 |
det |
the,interval |
R2651 |
T9096 |
T9094 |
dobj |
interval,narrow |
R2652 |
T9097 |
T9096 |
compound |
disease,interval |
R2653 |
T9098 |
T9090 |
nsubj |
we,performed |
R2654 |
T9099 |
T9100 |
compound |
backcross,experiments |
R2655 |
T9100 |
T9090 |
dobj |
experiments,performed |
R2656 |
T9101 |
T9102 |
dep |
that,resulted |
R2657 |
T9102 |
T9100 |
relcl |
resulted,experiments |
R2658 |
T9103 |
T9102 |
prep |
in,resulted |
R2659 |
T9104 |
T9105 |
det |
the,generation |
R2660 |
T9105 |
T9103 |
pobj |
generation,in |
R2661 |
T9106 |
T9105 |
prep |
of,generation |
R2662 |
T9107 |
T9108 |
nummod |
three,mice |
R2663 |
T9108 |
T9106 |
pobj |
mice,of |
R2664 |
T9109 |
T9108 |
amod |
additional,mice |
R2665 |
T9110 |
T9108 |
amod |
affected,mice |
R2666 |
T9111 |
T9090 |
punct |
.,performed |
R2667 |
T9113 |
T9114 |
nsubj |
Genotyping,revealed |
R2668 |
T9115 |
T9113 |
prep |
of,Genotyping |
R2669 |
T9116 |
T9117 |
det |
all,mice |
R2670 |
T9117 |
T9115 |
pobj |
mice,of |
R2671 |
T9118 |
T9117 |
amod |
affected,mice |
R2672 |
T9119 |
T9113 |
prep |
across,Genotyping |
R2673 |
T9120 |
T9121 |
det |
the,interval |
R2674 |
T9121 |
T9119 |
pobj |
interval,across |
R2675 |
T9122 |
T9123 |
npadvmod |
disease,segregating |
R2676 |
T9123 |
T9121 |
amod |
segregating,interval |
R2677 |
T9124 |
T9123 |
punct |
-,segregating |
R2678 |
T9125 |
T9126 |
amod |
flanking,recombinants |
R2679 |
T9126 |
T9114 |
dobj |
recombinants,revealed |
R2680 |
T9127 |
T9126 |
cc |
and,recombinants |
R2681 |
T9128 |
T9129 |
det |
a,region |
R2682 |
T9129 |
T9126 |
conj |
region,recombinants |
R2683 |
T9130 |
T9129 |
compound |
candidate,region |
R2684 |
T9131 |
T9129 |
prep |
of,region |
R2685 |
T9132 |
T9133 |
punct |
~,5 |
R2686 |
T9133 |
T9134 |
nummod |
5,Mb |
R2687 |
T9134 |
T9131 |
pobj |
Mb,of |
R2688 |
T9135 |
T9114 |
punct |
", ",revealed |
R2689 |
T9136 |
T9114 |
prep |
between,revealed |
R2690 |
T9137 |
T9138 |
compound |
markers,D6Mit37 |
R2691 |
T9138 |
T9136 |
pobj |
D6Mit37,between |
R2692 |
T9139 |
T9138 |
cc |
and,D6Mit37 |
R2693 |
T9140 |
T9138 |
conj |
44.MMHAP85FLG5,D6Mit37 |
R2694 |
T9141 |
T9142 |
punct |
(,S1 |
R2695 |
T9142 |
T9114 |
parataxis |
S1,revealed |
R2696 |
T9143 |
T9142 |
compound |
Figure,S1 |
R2697 |
T9144 |
T9142 |
punct |
),S1 |
R2698 |
T9145 |
T9114 |
punct |
.,revealed |
R2699 |
T9147 |
T9148 |
det |
This,region |
R2700 |
T9148 |
T9149 |
nsubj |
region,contains |
R2701 |
T9150 |
T9151 |
nummod |
16,genes |
R2702 |
T9151 |
T9149 |
dobj |
genes,contains |
R2703 |
T9152 |
T9151 |
cc |
and,genes |
R2704 |
T9153 |
T9154 |
amod |
predicted,transcripts |
R2705 |
T9154 |
T9151 |
conj |
transcripts,genes |
R2706 |
T9155 |
T9149 |
punct |
.,contains |
R2709 |
T9603 |
T9602 |
prep |
of,Identification |
R2710 |
T9604 |
T9605 |
det |
the,lesion |
R2711 |
T9605 |
T9603 |
pobj |
lesion,of |
R2712 |
T9606 |
T9605 |
amod |
underlying,lesion |
R2713 |
T9607 |
T9605 |
amod |
genetic,lesion |
R2714 |
T9608 |
T9602 |
prep |
in,Identification |
R2715 |
T9609 |
T9608 |
pobj |
mice,in |
R2716 |
T9610 |
T9602 |
punct |
.,Identification |
R2717 |
T9612 |
T9613 |
nsubjpass |
Identification,performed |
R2718 |
T9614 |
T9612 |
prep |
of,Identification |
R2719 |
T9615 |
T9616 |
amod |
similar,phenotypes |
R2720 |
T9616 |
T9614 |
pobj |
phenotypes,of |
R2721 |
T9617 |
T9616 |
prep |
in,phenotypes |
R2722 |
T9618 |
T9617 |
pobj |
mice,in |
R2723 |
T9619 |
T9618 |
acl |
linked,mice |
R2724 |
T9620 |
T9619 |
prep |
to,linked |
R2725 |
T9621 |
T9622 |
det |
the,interval |
R2726 |
T9622 |
T9620 |
pobj |
interval,to |
R2727 |
T9623 |
T9622 |
compound |
6qE1,interval |
R2728 |
T9624 |
T9613 |
auxpass |
was,performed |
R2729 |
T9625 |
T9613 |
prep |
by,performed |
R2730 |
T9626 |
T9627 |
compound |
literature,searches |
R2731 |
T9627 |
T9625 |
pobj |
searches,by |
R2732 |
T9628 |
T9613 |
punct |
.,performed |
R2733 |
T9630 |
T9631 |
nsubj |
This,revealed |
R2734 |
T9632 |
T9633 |
det |
the,mouse |
R2735 |
T9633 |
T9631 |
dobj |
mouse,revealed |
R2736 |
T9634 |
T9635 |
compound |
Itpr1opt,opt |
R2737 |
T9635 |
T9633 |
compound |
opt,mouse |
R2738 |
T9636 |
T9635 |
punct |
/,opt |
R2739 |
T9637 |
T9633 |
punct |
", ",mouse |
R2740 |
T9638 |
T9639 |
prep |
in,caused |
R2741 |
T9639 |
T9633 |
relcl |
caused,mouse |
R2742 |
T9640 |
T9638 |
pobj |
which,in |
R2743 |
T9641 |
T9639 |
nsubjpass |
disease,caused |
R2744 |
T9642 |
T9639 |
auxpass |
is,caused |
R2745 |
T9643 |
T9639 |
agent |
by,caused |
R2746 |
T9644 |
T9645 |
amod |
homozygous,mutation |
R2747 |
T9645 |
T9643 |
pobj |
mutation,by |
R2748 |
T9646 |
T9645 |
compound |
deletion,mutation |
R2749 |
T9647 |
T9645 |
prep |
of,mutation |
R2750 |
T9648 |
T9649 |
nmod |
exons,43 |
R2751 |
T9649 |
T9647 |
pobj |
43,of |
R2752 |
T9650 |
T9649 |
cc |
and,43 |
R2753 |
T9651 |
T9649 |
conj |
44,43 |
R2754 |
T9652 |
T9649 |
prep |
of,43 |
R2755 |
T9653 |
T9652 |
pobj |
Itpr1,of |
R2756 |
T9654 |
T9631 |
punct |
.,revealed |
R2757 |
T9656 |
T9657 |
compound |
Primer,pairs |
R2758 |
T9657 |
T9658 |
nsubjpass |
pairs,designed |
R2759 |
T9659 |
T9658 |
auxpass |
were,designed |
R2760 |
T9660 |
T9661 |
aux |
to,sequence |
R2761 |
T9661 |
T9658 |
advcl |
sequence,designed |
R2762 |
T9662 |
T9661 |
dobj |
each,sequence |
R2763 |
T9663 |
T9662 |
prep |
of,each |
R2764 |
T9664 |
T9665 |
det |
the,exons |
R2765 |
T9665 |
T9663 |
pobj |
exons,of |
R2766 |
T9666 |
T9665 |
compound |
coding,exons |
R2767 |
T9667 |
T9662 |
cc |
and,each |
R2768 |
T9668 |
T9669 |
advmod |
at,50 |
R2769 |
T9669 |
T9671 |
nummod |
50,bp |
R2770 |
T9670 |
T9669 |
advmod |
least,50 |
R2771 |
T9671 |
T9662 |
conj |
bp,each |
R2772 |
T9672 |
T9671 |
prep |
of,bp |
R2773 |
T9673 |
T9674 |
det |
each,sequence |
R2774 |
T9674 |
T9672 |
pobj |
sequence,of |
R2775 |
T9675 |
T9674 |
amod |
flanking,sequence |
R2776 |
T9676 |
T9674 |
amod |
intronic,sequence |
R2777 |
T9677 |
T9662 |
prep |
of,each |
R2778 |
T9678 |
T9677 |
pobj |
Itpr1,of |
R2779 |
T9679 |
T9658 |
punct |
.,designed |
R2780 |
T9681 |
T9682 |
compound |
PCR,amplification |
R2781 |
T9682 |
T9683 |
nsubjpass |
amplification,performed |
R2782 |
T9684 |
T9682 |
prep |
of,amplification |
R2783 |
T9685 |
T9686 |
det |
each,exon |
R2784 |
T9686 |
T9684 |
pobj |
exon,of |
R2785 |
T9687 |
T9683 |
auxpass |
was,performed |
R2786 |
T9688 |
T9683 |
advcl |
using,performed |
R2787 |
T9689 |
T9688 |
dobj |
DNA,using |
R2788 |
T9690 |
T9689 |
prep |
from,DNA |
R2789 |
T9691 |
T9692 |
nummod |
two,mice |
R2790 |
T9692 |
T9690 |
pobj |
mice,from |
R2791 |
T9693 |
T9692 |
amod |
affected,mice |
R2792 |
T9694 |
T9688 |
prep |
as,using |
R2793 |
T9695 |
T9694 |
pobj |
templates,as |
R2794 |
T9696 |
T9683 |
punct |
.,performed |
R2795 |
T9698 |
T9699 |
det |
The,mutation |
R2796 |
T9699 |
T9703 |
nsubjpass |
mutation,confirmed |
R2797 |
T9700 |
T9701 |
compound |
Itpr1Δ18,Δ18 |
R2798 |
T9701 |
T9699 |
compound |
Δ18,mutation |
R2799 |
T9702 |
T9701 |
punct |
/,Δ18 |
R2800 |
T9704 |
T9703 |
auxpass |
was,confirmed |
R2801 |
T9705 |
T9703 |
prep |
by,confirmed |
R2802 |
T9706 |
T9705 |
pobj |
sequencing,by |
R2803 |
T9707 |
T9703 |
prep |
in,confirmed |
R2804 |
T9708 |
T9709 |
det |
all,mice |
R2805 |
T9709 |
T9707 |
pobj |
mice,in |
R2806 |
T9710 |
T9709 |
amod |
affected,mice |
R2807 |
T9711 |
T9712 |
punct |
(,S2 |
R2808 |
T9712 |
T9703 |
parataxis |
S2,confirmed |
R2809 |
T9713 |
T9712 |
compound |
Figure,S2 |
R2810 |
T9714 |
T9712 |
punct |
),S2 |
R2811 |
T9715 |
T9703 |
punct |
.,confirmed |
R2812 |
T9717 |
T9718 |
amod |
Breeding,experiments |
R2813 |
T9718 |
T9719 |
nsubjpass |
experiments,performed |
R2814 |
T9720 |
T9719 |
auxpass |
were,performed |
R2815 |
T9721 |
T9719 |
prep |
between,performed |
R2816 |
T9722 |
T9723 |
nummod |
two,mice |
R2817 |
T9723 |
T9721 |
pobj |
mice,between |
R2818 |
T9724 |
T9723 |
amod |
female,mice |
R2819 |
T9725 |
T9723 |
amod |
heterozygous,mice |
R2820 |
T9726 |
T9725 |
prep |
for,heterozygous |
R2821 |
T9727 |
T9728 |
det |
the,mutation |
R2822 |
T9728 |
T9726 |
pobj |
mutation,for |
R2823 |
T9729 |
T9728 |
amod |
current,mutation |
R2824 |
T9730 |
T9731 |
punct |
(,Δ18 |
R2825 |
T9731 |
T9728 |
parataxis |
Δ18,mutation |
R2826 |
T9732 |
T9731 |
compound |
Itpr1wt,Δ18 |
R2827 |
T9733 |
T9731 |
punct |
/,Δ18 |
R2828 |
T9734 |
T9731 |
punct |
),Δ18 |
R2829 |
T9735 |
T9723 |
cc |
and,mice |
R2830 |
T9736 |
T9737 |
det |
a,mouse |
R2831 |
T9737 |
T9723 |
conj |
mouse,mice |
R2832 |
T9738 |
T9737 |
amod |
male,mouse |
R2833 |
T9739 |
T9737 |
amod |
heterozygous,mouse |
R2834 |
T9740 |
T9739 |
prep |
for,heterozygous |
R2835 |
T9741 |
T9742 |
det |
the,mutation |
R2836 |
T9742 |
T9740 |
pobj |
mutation,for |
R2837 |
T9743 |
T9742 |
compound |
Itpr1opt,mutation |
R2838 |
T9744 |
T9745 |
punct |
(,opt |
R2839 |
T9745 |
T9742 |
parataxis |
opt,mutation |
R2840 |
T9746 |
T9745 |
compound |
Itpr1wt,opt |
R2841 |
T9747 |
T9745 |
punct |
/,opt |
R2842 |
T9748 |
T9745 |
punct |
),opt |
R2843 |
T9749 |
T9719 |
punct |
.,performed |
R2844 |
T9751 |
T9752 |
nsubj |
This,resulted |
R2845 |
T9753 |
T9752 |
prep |
in,resulted |
R2846 |
T9754 |
T9755 |
nummod |
two,litters |
R2847 |
T9755 |
T9753 |
pobj |
litters,in |
R2848 |
T9756 |
T9755 |
prep |
of,litters |
R2849 |
T9757 |
T9756 |
pobj |
mice,of |
R2850 |
T9758 |
T9755 |
prep |
with,litters |
R2851 |
T9759 |
T9760 |
det |
a,total |
R2852 |
T9760 |
T9758 |
pobj |
total,with |
R2853 |
T9761 |
T9760 |
prep |
of,total |
R2854 |
T9762 |
T9763 |
nummod |
four,pups |
R2855 |
T9763 |
T9761 |
pobj |
pups,of |
R2856 |
T9764 |
T9763 |
amod |
affected,pups |
R2857 |
T9765 |
T9766 |
compound |
Itpr1opt,Δ18 |
R2858 |
T9766 |
T9763 |
compound |
Δ18,pups |
R2859 |
T9767 |
T9766 |
punct |
/,Δ18 |
R2860 |
T9768 |
T9769 |
punct |
(,eight |
R2861 |
T9769 |
T9763 |
parataxis |
eight,pups |
R2862 |
T9770 |
T9769 |
prep |
from,eight |
R2863 |
T9771 |
T9772 |
det |
a,total |
R2864 |
T9772 |
T9770 |
pobj |
total,from |
R2865 |
T9773 |
T9772 |
prep |
of,total |
R2866 |
T9774 |
T9773 |
pobj |
15,of |
R2867 |
T9775 |
T9769 |
punct |
;,eight |
R2868 |
T9776 |
T9777 |
quantmod |
two,seven |
R2869 |
T9777 |
T9769 |
dep |
seven,eight |
R2870 |
T9778 |
T9777 |
quantmod |
of,seven |
R2871 |
T9779 |
T9777 |
prep |
from,seven |
R2872 |
T9780 |
T9781 |
amod |
first,mating |
R2873 |
T9781 |
T9779 |
pobj |
mating,from |
R2874 |
T9782 |
T9769 |
punct |
;,eight |
R2875 |
T9783 |
T9769 |
quantmod |
two,eight |
R2876 |
T9784 |
T9769 |
quantmod |
of,eight |
R2877 |
T9785 |
T9769 |
prep |
from,eight |
R2878 |
T9786 |
T9787 |
det |
the,mating |
R2879 |
T9787 |
T9785 |
pobj |
mating,from |
R2880 |
T9788 |
T9787 |
amod |
second,mating |
R2881 |
T9789 |
T9769 |
punct |
),eight |
R2882 |
T9790 |
T9763 |
prep |
with,pups |
R2883 |
T9791 |
T9792 |
det |
a,phenotype |
R2884 |
T9792 |
T9790 |
pobj |
phenotype,with |
R2885 |
T9793 |
T9792 |
amod |
indistinguishable,phenotype |
R2886 |
T9794 |
T9793 |
prep |
from,indistinguishable |
R2887 |
T9795 |
T9794 |
pobj |
that,from |
R2888 |
T9796 |
T9795 |
prep |
of,that |
R2889 |
T9797 |
T9798 |
det |
the,mice |
R2890 |
T9798 |
T9796 |
pobj |
mice,of |
R2891 |
T9799 |
T9800 |
nmod |
Itpr1Δ18,Δ18 |
R2892 |
T9800 |
T9798 |
nmod |
Δ18,mice |
R2893 |
T9801 |
T9800 |
punct |
/,Δ18 |
R2894 |
T9802 |
T9800 |
cc |
and,Δ18 |
R2895 |
T9803 |
T9804 |
compound |
Itpr1opt,opt |
R2896 |
T9804 |
T9800 |
conj |
opt,Δ18 |
R2897 |
T9805 |
T9804 |
punct |
/,opt |
R2898 |
T9806 |
T9752 |
punct |
.,resulted |
R2899 |
T10117 |
T10116 |
prep |
of,Analysis |
R2900 |
T10118 |
T10119 |
compound |
Itpr1,protein |
R2901 |
T10119 |
T10117 |
pobj |
protein,of |
R2902 |
T10120 |
T10119 |
prep |
in,protein |
R2903 |
T10121 |
T10120 |
pobj |
mice,in |
R2904 |
T10122 |
T10116 |
punct |
.,Analysis |
R2905 |
T10124 |
T10125 |
nsubj |
We,performed |
R2906 |
T10126 |
T10127 |
compound |
Western,blot |
R2907 |
T10127 |
T10128 |
compound |
blot,analyses |
R2908 |
T10128 |
T10125 |
dobj |
analyses,performed |
R2909 |
T10129 |
T10125 |
advcl |
using,performed |
R2910 |
T10130 |
T10131 |
amod |
standard,techniques |
R2911 |
T10131 |
T10129 |
dobj |
techniques,using |
R2912 |
T10132 |
T10125 |
prep |
with,performed |
R2913 |
T10133 |
T10134 |
compound |
ECL,kits |
R2914 |
T10134 |
T10132 |
pobj |
kits,with |
R2915 |
T10135 |
T10134 |
compound |
detection,kits |
R2916 |
T10136 |
T10137 |
punct |
(,Amersham |
R2917 |
T10137 |
T10134 |
parataxis |
Amersham,kits |
R2918 |
T10138 |
T10137 |
punct |
", ",Amersham |
R2919 |
T10139 |
T10137 |
npadvmod |
http://www.amersham.com,Amersham |
R2920 |
T10140 |
T10137 |
punct |
),Amersham |
R2921 |
T10141 |
T10125 |
punct |
.,performed |
R2922 |
T10143 |
T10144 |
advmod |
Briefly,homogenized |
R2923 |
T10145 |
T10144 |
punct |
", ",homogenized |
R2924 |
T10146 |
T10147 |
amod |
dissected,brains |
R2925 |
T10147 |
T10144 |
nsubjpass |
brains,homogenized |
R2926 |
T10148 |
T10147 |
amod |
whole,brains |
R2927 |
T10149 |
T10147 |
prep |
from,brains |
R2928 |
T10150 |
T10151 |
amod |
postnatal,day |
R2929 |
T10151 |
T10152 |
nmod |
day,littermates |
R2930 |
T10152 |
T10149 |
pobj |
littermates,from |
R2931 |
T10153 |
T10151 |
nummod |
21,day |
R2932 |
T10154 |
T10144 |
auxpass |
were,homogenized |
R2933 |
T10155 |
T10144 |
prep |
in,homogenized |
R2934 |
T10156 |
T10157 |
det |
a,buffer |
R2935 |
T10157 |
T10155 |
pobj |
buffer,in |
R2936 |
T10158 |
T10157 |
acl |
containing,buffer |
R2937 |
T10159 |
T10160 |
nummod |
50,mM |
R2938 |
T10160 |
T10161 |
compound |
mM,HCl |
R2939 |
T10161 |
T10158 |
dobj |
HCl,containing |
R2940 |
T10162 |
T10161 |
compound |
Tris,HCl |
R2941 |
T10163 |
T10161 |
punct |
-,HCl |
R2942 |
T10164 |
T10161 |
punct |
", ",HCl |
R2943 |
T10165 |
T10166 |
nummod |
150,mM |
R2944 |
T10166 |
T10167 |
compound |
mM,NaCl |
R2945 |
T10167 |
T10161 |
conj |
NaCl,HCl |
R2946 |
T10168 |
T10167 |
punct |
", ",NaCl |
R2947 |
T10169 |
T10170 |
nummod |
1,mM |
R2948 |
T10170 |
T10171 |
compound |
mM,EDTA |
R2949 |
T10171 |
T10167 |
conj |
EDTA,NaCl |
R2950 |
T10172 |
T10171 |
punct |
", ",EDTA |
R2951 |
T10173 |
T10174 |
nummod |
1,% |
R2952 |
T10174 |
T10175 |
compound |
%,X |
R2953 |
T10175 |
T10171 |
conj |
X,EDTA |
R2954 |
T10176 |
T10175 |
compound |
Triton,X |
R2955 |
T10177 |
T10175 |
punct |
-,X |
R2956 |
T10178 |
T10175 |
nummod |
100,X |
R2957 |
T10179 |
T10175 |
punct |
", ",X |
R2958 |
T10180 |
T10181 |
nummod |
1,% |
R2959 |
T10181 |
T10182 |
compound |
%,deoxycholate |
R2960 |
T10182 |
T10175 |
conj |
deoxycholate,X |
R2961 |
T10183 |
T10182 |
compound |
sodium,deoxycholate |
R2962 |
T10184 |
T10182 |
punct |
", ",deoxycholate |
R2963 |
T10185 |
T10186 |
nummod |
0.1,% |
R2964 |
T10186 |
T10187 |
compound |
%,SDS |
R2965 |
T10187 |
T10182 |
conj |
SDS,deoxycholate |
R2966 |
T10188 |
T10187 |
punct |
", ",SDS |
R2967 |
T10189 |
T10187 |
cc |
and,SDS |
R2968 |
T10190 |
T10191 |
det |
a,cocktail |
R2969 |
T10191 |
T10187 |
conj |
cocktail,SDS |
R2970 |
T10192 |
T10191 |
prep |
of,cocktail |
R2971 |
T10193 |
T10194 |
compound |
protease,inhibitors |
R2972 |
T10194 |
T10192 |
pobj |
inhibitors,of |
R2973 |
T10195 |
T10196 |
punct |
(,Roche |
R2974 |
T10196 |
T10191 |
parataxis |
Roche,cocktail |
R2975 |
T10197 |
T10196 |
punct |
", ",Roche |
R2976 |
T10198 |
T10196 |
npadvmod |
http://www.roche.com,Roche |
R2977 |
T10199 |
T10196 |
punct |
),Roche |
R2978 |
T10200 |
T10144 |
punct |
.,homogenized |
R2979 |
T10202 |
T10203 |
nsubjpass |
Homogenates,diluted |
R2980 |
T10204 |
T10203 |
auxpass |
were,diluted |
R2981 |
T10205 |
T10203 |
advmod |
appropriately,diluted |
R2982 |
T10206 |
T10203 |
punct |
", ",diluted |
R2983 |
T10207 |
T10203 |
conj |
mixed,diluted |
R2984 |
T10208 |
T10207 |
prep |
with,mixed |
R2985 |
T10209 |
T10210 |
nummod |
4,buffer |
R2986 |
T10210 |
T10208 |
pobj |
buffer,with |
R2987 |
T10211 |
T10209 |
punct |
×,4 |
R2988 |
T10212 |
T10210 |
amod |
reducing,buffer |
R2989 |
T10213 |
T10210 |
compound |
sample,buffer |
R2990 |
T10214 |
T10207 |
punct |
", ",mixed |
R2991 |
T10215 |
T10207 |
cc |
and,mixed |
R2992 |
T10216 |
T10207 |
conj |
loaded,mixed |
R2993 |
T10217 |
T10216 |
prep |
onto,loaded |
R2994 |
T10218 |
T10219 |
nummod |
4,% |
R2995 |
T10219 |
T10220 |
nmod |
%,gels |
R2996 |
T10220 |
T10217 |
pobj |
gels,onto |
R2997 |
T10221 |
T10222 |
punct |
–,% |
R2998 |
T10222 |
T10219 |
prep |
%,% |
R2999 |
T10223 |
T10222 |
nummod |
12,% |
R3000 |
T10224 |
T10220 |
compound |
precast,gels |
R3001 |
T10225 |
T10220 |
compound |
gradient,gels |
R3002 |
T10226 |
T10227 |
punct |
(,Novex |
R3003 |
T10227 |
T10220 |
parataxis |
Novex,gels |
R3004 |
T10228 |
T10227 |
punct |
", ",Novex |
R3005 |
T10229 |
T10227 |
npadvmod |
http://www.invitrogen.com,Novex |
R3006 |
T10230 |
T10227 |
punct |
),Novex |
R3007 |
T10231 |
T10216 |
prep |
for,loaded |
R3008 |
T10232 |
T10233 |
compound |
SDS,PAGE |
R3009 |
T10233 |
T10231 |
pobj |
PAGE,for |
R3010 |
T10234 |
T10233 |
punct |
-,PAGE |
R3011 |
T10235 |
T10233 |
cc |
and,PAGE |
R3012 |
T10236 |
T10233 |
conj |
immunoblotting,PAGE |
R3013 |
T10237 |
T10203 |
punct |
.,diluted |
R3014 |
T10239 |
T10240 |
det |
The,antibodies |
R3015 |
T10240 |
T10241 |
nsubjpass |
antibodies,used |
R3016 |
T10242 |
T10240 |
prep |
to,antibodies |
R3017 |
T10243 |
T10242 |
pobj |
Itpr1,to |
R3018 |
T10244 |
T10245 |
punct |
(,1 |
R3019 |
T10245 |
T10243 |
parataxis |
1,Itpr1 |
R3020 |
T10246 |
T10247 |
punct |
:,"2,000" |
R3021 |
T10247 |
T10245 |
prep |
"2,000",1 |
R3022 |
T10248 |
T10245 |
punct |
),1 |
R3023 |
T10249 |
T10243 |
cc |
and,Itpr1 |
R3024 |
T10250 |
T10243 |
conj |
Actb,Itpr1 |
R3025 |
T10251 |
T10252 |
punct |
(,1 |
R3026 |
T10252 |
T10250 |
parataxis |
1,Actb |
R3027 |
T10253 |
T10254 |
punct |
:,"5,000" |
R3028 |
T10254 |
T10252 |
prep |
"5,000",1 |
R3029 |
T10255 |
T10252 |
punct |
),1 |
R3030 |
T10256 |
T10241 |
auxpass |
were,used |
R3031 |
T10257 |
T10258 |
mark |
as,recommended |
R3032 |
T10258 |
T10241 |
advcl |
recommended,used |
R3033 |
T10259 |
T10258 |
agent |
by,recommended |
R3034 |
T10260 |
T10259 |
pobj |
manufacturers,by |
R3035 |
T10261 |
T10241 |
punct |
.,used |
R3036 |
T10936 |
T10935 |
punct |
.,Immunohistochemistry |
R3037 |
T10938 |
T10939 |
nsubjpass |
Brains,isolated |
R3038 |
T10940 |
T10939 |
auxpass |
were,isolated |
R3039 |
T10941 |
T10939 |
prep |
from,isolated |
R3040 |
T10942 |
T10943 |
nummod |
21,d |
R3041 |
T10943 |
T10945 |
npadvmod |
d,old |
R3042 |
T10944 |
T10943 |
punct |
-,d |
R3043 |
T10945 |
T10947 |
amod |
old,mice |
R3044 |
T10946 |
T10945 |
punct |
-,old |
R3045 |
T10947 |
T10941 |
pobj |
mice,from |
R3046 |
T10948 |
T10939 |
punct |
", ",isolated |
R3047 |
T10949 |
T10939 |
conj |
perfused,isolated |
R3048 |
T10950 |
T10949 |
prep |
with,perfused |
R3049 |
T10951 |
T10952 |
nummod |
4,% |
R3050 |
T10952 |
T10953 |
compound |
%,paraformaldehyde |
R3051 |
T10953 |
T10950 |
pobj |
paraformaldehyde,with |
R3052 |
T10954 |
T10953 |
prep |
in,paraformaldehyde |
R3053 |
T10955 |
T10954 |
pobj |
PBS,in |
R3054 |
T10956 |
T10949 |
punct |
", ",perfused |
R3055 |
T10957 |
T10949 |
cc |
and,perfused |
R3056 |
T10958 |
T10949 |
conj |
post-fixed,perfused |
R3057 |
T10959 |
T10958 |
advmod |
overnight,post-fixed |
R3058 |
T10960 |
T10958 |
prep |
in,post-fixed |
R3059 |
T10961 |
T10962 |
det |
the,fixative |
R3060 |
T10962 |
T10960 |
pobj |
fixative,in |
R3061 |
T10963 |
T10962 |
amod |
same,fixative |
R3062 |
T10964 |
T10939 |
punct |
.,isolated |
R3063 |
T10966 |
T10967 |
nsubjpass |
Brains,embedded |
R3064 |
T10968 |
T10967 |
auxpass |
were,embedded |
R3065 |
T10969 |
T10967 |
prep |
in,embedded |
R3066 |
T10970 |
T10969 |
pobj |
gelatin,in |
R3067 |
T10971 |
T10967 |
punct |
", ",embedded |
R3068 |
T10972 |
T10967 |
cc |
and,embedded |
R3069 |
T10973 |
T10974 |
nummod |
35,μm |
R3070 |
T10974 |
T10976 |
nmod |
μm,sections |
R3071 |
T10975 |
T10974 |
punct |
-,μm |
R3072 |
T10976 |
T10978 |
nsubjpass |
sections,cut |
R3073 |
T10977 |
T10976 |
amod |
sagittal,sections |
R3074 |
T10978 |
T10967 |
conj |
cut,embedded |
R3075 |
T10979 |
T10978 |
auxpass |
were,cut |
R3076 |
T10980 |
T10978 |
advcl |
using,cut |
R3077 |
T10981 |
T10982 |
det |
a,microtome |
R3078 |
T10982 |
T10980 |
dobj |
microtome,using |
R3079 |
T10983 |
T10982 |
amod |
sliding,microtome |
R3080 |
T10984 |
T10985 |
punct |
(,Associates |
R3081 |
T10985 |
T10982 |
parataxis |
Associates,microtome |
R3082 |
T10986 |
T10985 |
compound |
NeuroScience,Associates |
R3083 |
T10987 |
T10985 |
punct |
", ",Associates |
R3084 |
T10988 |
T10985 |
npadvmod |
http://www.neuroscienceassociates.com,Associates |
R3085 |
T10989 |
T10985 |
punct |
),Associates |
R3086 |
T10990 |
T10978 |
punct |
.,cut |
R3087 |
T10992 |
T10993 |
nsubjpass |
Sections,placed |
R3088 |
T10994 |
T10992 |
prep |
from,Sections |
R3089 |
T10995 |
T10996 |
amod |
wild,type |
R3090 |
T10996 |
T10998 |
nmod |
type,brains |
R3091 |
T10997 |
T10996 |
punct |
-,type |
R3092 |
T10998 |
T10994 |
pobj |
brains,from |
R3093 |
T10999 |
T10996 |
punct |
", ",type |
R3094 |
T11000 |
T10996 |
conj |
heterozygote,type |
R3095 |
T11001 |
T11000 |
punct |
", ",heterozygote |
R3096 |
T11002 |
T11000 |
cc |
and,heterozygote |
R3097 |
T11003 |
T11000 |
conj |
homozygous,heterozygote |
R3098 |
T11004 |
T10993 |
auxpass |
were,placed |
R3099 |
T11005 |
T10993 |
prep |
in,placed |
R3100 |
T11006 |
T11007 |
det |
the,template |
R3101 |
T11007 |
T11005 |
pobj |
template,in |
R3102 |
T11008 |
T11007 |
compound |
MultiBrain,template |
R3103 |
T11009 |
T10993 |
punct |
.,placed |
R3104 |
T11011 |
T11012 |
nsubjpass |
Sections,washed |
R3105 |
T11013 |
T11012 |
auxpass |
were,washed |
R3106 |
T11014 |
T11012 |
prep |
in,washed |
R3107 |
T11015 |
T11016 |
nummod |
1,PBS |
R3108 |
T11016 |
T11014 |
pobj |
PBS,in |
R3109 |
T11017 |
T11015 |
punct |
×,1 |
R3110 |
T11018 |
T11019 |
advmod |
prior,to |
R3111 |
T11019 |
T11012 |
prep |
to,washed |
R3112 |
T11020 |
T11021 |
nummod |
1,h |
R3113 |
T11021 |
T11019 |
pobj |
h,to |
R3114 |
T11022 |
T11021 |
prep |
of,h |
R3115 |
T11023 |
T11022 |
pobj |
incubation,of |
R3116 |
T11024 |
T11023 |
prep |
in,incubation |
R3117 |
T11025 |
T11026 |
compound |
block,solution |
R3118 |
T11026 |
T11024 |
pobj |
solution,in |
R3119 |
T11027 |
T11026 |
acl |
containing,solution |
R3120 |
T11028 |
T11029 |
nummod |
1,PBS |
R3121 |
T11029 |
T11027 |
dobj |
PBS,containing |
R3122 |
T11030 |
T11028 |
punct |
×,1 |
R3123 |
T11031 |
T11029 |
prep |
with,PBS |
R3124 |
T11032 |
T11033 |
nummod |
20,% |
R3125 |
T11033 |
T11034 |
nmod |
%,serum |
R3126 |
T11034 |
T11031 |
pobj |
serum,with |
R3127 |
T11035 |
T11034 |
amod |
normal,serum |
R3128 |
T11036 |
T11034 |
compound |
goat,serum |
R3129 |
T11037 |
T11034 |
cc |
and,serum |
R3130 |
T11038 |
T11039 |
nummod |
0.3,% |
R3131 |
T11039 |
T11040 |
compound |
%,X |
R3132 |
T11040 |
T11034 |
conj |
X,serum |
R3133 |
T11041 |
T11040 |
compound |
Triton,X |
R3134 |
T11042 |
T11040 |
punct |
-,X |
R3135 |
T11043 |
T11040 |
nummod |
100,X |
R3136 |
T11044 |
T11045 |
punct |
(,pH |
R3137 |
T11045 |
T11040 |
parataxis |
pH,X |
R3138 |
T11046 |
T11045 |
nummod |
7.4,pH |
R3139 |
T11047 |
T11045 |
punct |
),pH |
R3140 |
T11048 |
T11012 |
punct |
.,washed |
R3141 |
T11050 |
T11051 |
nsubjpass |
Sections,incubated |
R3142 |
T11052 |
T11051 |
auxpass |
were,incubated |
R3143 |
T11053 |
T11051 |
advmod |
overnight,incubated |
R3144 |
T11054 |
T11051 |
prep |
at,incubated |
R3145 |
T11055 |
T11056 |
nummod |
4,°C |
R3146 |
T11056 |
T11054 |
pobj |
°C,at |
R3147 |
T11057 |
T11051 |
prep |
in,incubated |
R3148 |
T11058 |
T11059 |
amod |
primary,antibodies |
R3149 |
T11059 |
T11057 |
pobj |
antibodies,in |
R3150 |
T11060 |
T11059 |
punct |
: ,antibodies |
R3151 |
T11061 |
T11062 |
nmod |
affinity,antibody |
R3152 |
T11062 |
T11059 |
appos |
antibody,antibodies |
R3153 |
T11063 |
T11062 |
amod |
purified,antibody |
R3154 |
T11064 |
T11062 |
amod |
polyclonal,antibody |
R3155 |
T11065 |
T11062 |
compound |
Itpr1,antibody |
R3156 |
T11066 |
T11067 |
punct |
(,International |
R3157 |
T11067 |
T11062 |
parataxis |
International,antibody |
R3158 |
T11068 |
T11067 |
dep |
1,International |
R3159 |
T11069 |
T11070 |
punct |
:,"2,000" |
R3160 |
T11070 |
T11068 |
prep |
"2,000",1 |
R3161 |
T11071 |
T11067 |
punct |
", ",International |
R3162 |
T11072 |
T11067 |
compound |
Chemicon,International |
R3163 |
T11073 |
T11067 |
punct |
", ",International |
R3164 |
T11074 |
T11067 |
npadvmod |
http://www.chemicon.com,International |
R3165 |
T11075 |
T11067 |
punct |
),International |
R3166 |
T11076 |
T11062 |
cc |
and,antibody |
R3167 |
T11077 |
T11078 |
amod |
monoclonal,antibody |
R3168 |
T11078 |
T11062 |
conj |
antibody,antibody |
R3169 |
T11079 |
T11078 |
amod |
anti-Calb1,antibody |
R3170 |
T11080 |
T11081 |
punct |
(,Aldrich |
R3171 |
T11081 |
T11078 |
parataxis |
Aldrich,antibody |
R3172 |
T11082 |
T11081 |
dep |
1,Aldrich |
R3173 |
T11083 |
T11084 |
punct |
:,"6,000" |
R3174 |
T11084 |
T11082 |
prep |
"6,000",1 |
R3175 |
T11085 |
T11081 |
punct |
", ",Aldrich |
R3176 |
T11086 |
T11081 |
compound |
Sigma,Aldrich |
R3177 |
T11087 |
T11081 |
punct |
-,Aldrich |
R3178 |
T11088 |
T11081 |
punct |
", ",Aldrich |
R3179 |
T11089 |
T11081 |
npadvmod |
http://www.sigmaaldrich.com,Aldrich |
R3180 |
T11090 |
T11081 |
punct |
),Aldrich |
R3181 |
T11091 |
T11062 |
acl |
diluted,antibody |
R3182 |
T11092 |
T11091 |
prep |
in,diluted |
R3183 |
T11093 |
T11094 |
compound |
carrier,solution |
R3184 |
T11094 |
T11092 |
pobj |
solution,in |
R3185 |
T11095 |
T11051 |
punct |
.,incubated |
R3186 |
T11097 |
T11098 |
prep |
Following,incubated |
R3187 |
T11099 |
T11100 |
amod |
extensive,washes |
R3188 |
T11100 |
T11097 |
pobj |
washes,Following |
R3189 |
T11101 |
T11100 |
punct |
(,washes |
R3190 |
T11102 |
T11100 |
prep |
in,washes |
R3191 |
T11103 |
T11104 |
nummod |
6.0,ml |
R3192 |
T11104 |
T11102 |
pobj |
ml,in |
R3193 |
T11105 |
T11104 |
prep |
of,ml |
R3194 |
T11106 |
T11105 |
pobj |
PBS,of |
R3195 |
T11107 |
T11108 |
punct |
", ",times |
R3196 |
T11108 |
T11100 |
parataxis |
times,washes |
R3197 |
T11109 |
T11108 |
nummod |
three,times |
R3198 |
T11110 |
T11108 |
punct |
),times |
R3199 |
T11111 |
T11098 |
punct |
", ",incubated |
R3200 |
T11112 |
T11098 |
nsubjpass |
sections,incubated |
R3201 |
T11113 |
T11098 |
auxpass |
were,incubated |
R3202 |
T11114 |
T11098 |
prep |
with,incubated |
R3203 |
T11115 |
T11116 |
amod |
appropriate,antibodies |
R3204 |
T11116 |
T11114 |
pobj |
antibodies,with |
R3205 |
T11117 |
T11116 |
amod |
secondary,antibodies |
R3206 |
T11118 |
T11119 |
punct |
(,IgG |
R3207 |
T11119 |
T11116 |
parataxis |
IgG,antibodies |
R3208 |
T11120 |
T11121 |
nmod |
Alexa,Fluor |
R3209 |
T11121 |
T11119 |
nmod |
Fluor,IgG |
R3210 |
T11122 |
T11121 |
nummod |
555,Fluor |
R3211 |
T11123 |
T11119 |
nmod |
goat,IgG |
R3212 |
T11124 |
T11119 |
amod |
anti-rabbit,IgG |
R3213 |
T11125 |
T11119 |
cc |
and,IgG |
R3214 |
T11126 |
T11127 |
nmod |
Alexa,Fluor |
R3215 |
T11127 |
T11128 |
nmod |
Fluor,IgG |
R3216 |
T11128 |
T11119 |
conj |
IgG,IgG |
R3217 |
T11129 |
T11127 |
nummod |
488,Fluor |
R3218 |
T11130 |
T11128 |
nmod |
goat,IgG |
R3219 |
T11131 |
T11128 |
amod |
anti-mouse,IgG |
R3220 |
T11132 |
T11133 |
punct |
[,Invitrogen |
R3221 |
T11133 |
T11128 |
parataxis |
Invitrogen,IgG |
R3222 |
T11134 |
T11133 |
punct |
", ",Invitrogen |
R3223 |
T11135 |
T11133 |
npadvmod |
http://www.invitrogen.com,Invitrogen |
R3224 |
T11136 |
T11133 |
punct |
],Invitrogen |
R3225 |
T11137 |
T11119 |
punct |
),IgG |
R3226 |
T11138 |
T11098 |
prep |
for,incubated |
R3227 |
T11139 |
T11140 |
nummod |
1,h |
R3228 |
T11140 |
T11138 |
pobj |
h,for |
R3229 |
T11141 |
T11098 |
prep |
at,incubated |
R3230 |
T11142 |
T11143 |
compound |
room,temperature |
R3231 |
T11143 |
T11141 |
pobj |
temperature,at |
R3232 |
T11144 |
T11098 |
punct |
.,incubated |
R3233 |
T11146 |
T11147 |
nsubjpass |
Sections,washed |
R3234 |
T11148 |
T11147 |
auxpass |
were,washed |
R3235 |
T11149 |
T11147 |
cc |
and,washed |
R3236 |
T11150 |
T11147 |
conj |
mounted,washed |
R3237 |
T11151 |
T11150 |
prep |
on,mounted |
R3238 |
T11152 |
T11153 |
compound |
glass,slides |
R3239 |
T11153 |
T11151 |
pobj |
slides,on |
R3240 |
T11154 |
T11150 |
prep |
in,mounted |
R3241 |
T11155 |
T11156 |
det |
a,medium |
R3242 |
T11156 |
T11154 |
pobj |
medium,in |
R3243 |
T11157 |
T11156 |
amod |
buffered,medium |
R3244 |
T11158 |
T11156 |
acl |
containing,medium |
R3245 |
T11159 |
T11158 |
dobj |
Mowiol,containing |
R3246 |
T11160 |
T11161 |
punct |
(,Calbiochem |
R3247 |
T11161 |
T11159 |
parataxis |
Calbiochem,Mowiol |
R3248 |
T11162 |
T11161 |
punct |
", ",Calbiochem |
R3249 |
T11163 |
T11161 |
npadvmod |
http://www.emdbiosciences.com,Calbiochem |
R3250 |
T11164 |
T11161 |
punct |
),Calbiochem |
R3251 |
T11165 |
T11166 |
mark |
as,described |
R3252 |
T11166 |
T11150 |
advcl |
described,mounted |
R3253 |
T11167 |
T11166 |
advmod |
earlier,described |
R3254 |
T11168 |
T11169 |
punct |
[,14 |
R3255 |
T11169 |
T11150 |
parataxis |
14,mounted |
R3256 |
T11170 |
T11169 |
punct |
],14 |
R3257 |
T11171 |
T11147 |
punct |
.,washed |
R3258 |
T11173 |
T11174 |
nsubjpass |
Sections,imaged |
R3259 |
T11175 |
T11174 |
auxpass |
were,imaged |
R3260 |
T11176 |
T11174 |
advcl |
using,imaged |
R3261 |
T11177 |
T11178 |
det |
a,microscope |
R3262 |
T11178 |
T11176 |
dobj |
microscope,using |
R3263 |
T11179 |
T11178 |
nmod |
laser,microscope |
R3264 |
T11180 |
T11178 |
amod |
scanning,microscope |
R3265 |
T11181 |
T11178 |
amod |
confocal,microscope |
R3266 |
T11182 |
T11183 |
punct |
(,Zeiss |
R3267 |
T11183 |
T11178 |
parataxis |
Zeiss,microscope |
R3268 |
T11184 |
T11183 |
dep |
LSM,Zeiss |
R3269 |
T11185 |
T11184 |
nummod |
510,LSM |
R3270 |
T11186 |
T11183 |
punct |
;,Zeiss |
R3271 |
T11187 |
T11183 |
punct |
", ",Zeiss |
R3272 |
T11188 |
T11183 |
npadvmod |
http://www.zeiss.com,Zeiss |
R3273 |
T11189 |
T11183 |
punct |
),Zeiss |
R3274 |
T11190 |
T11174 |
punct |
.,imaged |
R3275 |
T11192 |
T11193 |
compound |
Imaging,parameters |
R3276 |
T11193 |
T11194 |
nsubjpass |
parameters,optimized |
R3277 |
T11195 |
T11196 |
punct |
(,pinhole |
R3278 |
T11196 |
T11193 |
parataxis |
pinhole,parameters |
R3279 |
T11197 |
T11196 |
punct |
", ",pinhole |
R3280 |
T11198 |
T11199 |
compound |
detector,gain |
R3281 |
T11199 |
T11196 |
appos |
gain,pinhole |
R3282 |
T11200 |
T11196 |
punct |
", ",pinhole |
R3283 |
T11201 |
T11202 |
compound |
laser,power |
R3284 |
T11202 |
T11196 |
appos |
power,pinhole |
R3285 |
T11203 |
T11196 |
punct |
),pinhole |
R3286 |
T11204 |
T11194 |
auxpass |
were,optimized |
R3287 |
T11205 |
T11194 |
punct |
", ",optimized |
R3288 |
T11206 |
T11194 |
cc |
and,optimized |
R3289 |
T11207 |
T11208 |
auxpass |
were,kept |
R3290 |
T11208 |
T11194 |
conj |
kept,optimized |
R3291 |
T11209 |
T11208 |
oprd |
constant,kept |
R3292 |
T11210 |
T11208 |
prep |
for,kept |
R3293 |
T11211 |
T11212 |
det |
the,brains |
R3294 |
T11212 |
T11210 |
pobj |
brains,for |
R3295 |
T11213 |
T11214 |
amod |
wild,type |
R3296 |
T11214 |
T11212 |
nmod |
type,brains |
R3297 |
T11215 |
T11214 |
punct |
-,type |
R3298 |
T11216 |
T11214 |
punct |
", ",type |
R3299 |
T11217 |
T11214 |
conj |
heterozygous,type |
R3300 |
T11218 |
T11217 |
punct |
", ",heterozygous |
R3301 |
T11219 |
T11217 |
cc |
and,heterozygous |
R3302 |
T11220 |
T11217 |
conj |
homozygous,heterozygous |
R3303 |
T11221 |
T11212 |
compound |
mutant,brains |
R3304 |
T11222 |
T11194 |
punct |
.,optimized |
R3305 |
T11224 |
T11225 |
nsubjpass |
Specificity,verified |
R3306 |
T11226 |
T11224 |
prep |
of,Specificity |
R3307 |
T11227 |
T11228 |
det |
the,antibodies |
R3308 |
T11228 |
T11226 |
pobj |
antibodies,of |
R3309 |
T11229 |
T11228 |
compound |
Itpr1,antibodies |
R3310 |
T11230 |
T11225 |
auxpass |
was,verified |
R3311 |
T11231 |
T11225 |
prep |
by,verified |
R3312 |
T11232 |
T11233 |
compound |
preabsorption,experiments |
R3313 |
T11233 |
T11231 |
pobj |
experiments,by |
R3314 |
T11234 |
T11233 |
compound |
control,experiments |
R3315 |
T11235 |
T11225 |
punct |
.,verified |
R3316 |
T11237 |
T11238 |
compound |
Antibody,dilutions |
R3317 |
T11238 |
T11239 |
nsubjpass |
dilutions,incubated |
R3318 |
T11240 |
T11239 |
auxpass |
were,incubated |
R3319 |
T11241 |
T11239 |
prep |
for,incubated |
R3320 |
T11242 |
T11243 |
nummod |
24,h |
R3321 |
T11243 |
T11241 |
pobj |
h,for |
R3322 |
T11244 |
T11239 |
prep |
at,incubated |
R3323 |
T11245 |
T11246 |
nummod |
4,°C |
R3324 |
T11246 |
T11244 |
pobj |
°C,at |
R3325 |
T11247 |
T11239 |
prep |
with,incubated |
R3326 |
T11248 |
T11249 |
det |
the,peptide |
R3327 |
T11249 |
T11247 |
pobj |
peptide,with |
R3328 |
T11250 |
T11249 |
amod |
immunizing,peptide |
R3329 |
T11251 |
T11239 |
punct |
.,incubated |
R3330 |
T11253 |
T11254 |
compound |
Tissue,sections |
R3331 |
T11254 |
T11255 |
nsubjpass |
sections,incubated |
R3332 |
T11256 |
T11255 |
auxpass |
were,incubated |
R3333 |
T11257 |
T11255 |
prep |
with,incubated |
R3334 |
T11258 |
T11259 |
det |
the,antibodies |
R3335 |
T11259 |
T11257 |
pobj |
antibodies,with |
R3336 |
T11260 |
T11259 |
amod |
preabsorbed,antibodies |
R3337 |
T11261 |
T11255 |
cc |
and,incubated |
R3338 |
T11262 |
T11255 |
conj |
processed,incubated |
R3339 |
T11263 |
T11264 |
mark |
as,described |
R3340 |
T11264 |
T11262 |
advcl |
described,processed |
R3341 |
T11265 |
T11264 |
advmod |
above,described |
R3342 |
T11266 |
T11255 |
punct |
.,incubated |
R3343 |
T11268 |
T11269 |
prep |
Under,detected |
R3344 |
T11270 |
T11271 |
det |
these,conditions |
R3345 |
T11271 |
T11268 |
pobj |
conditions,Under |
R3346 |
T11272 |
T11269 |
punct |
", ",detected |
R3347 |
T11273 |
T11274 |
det |
no,staining |
R3348 |
T11274 |
T11269 |
nsubjpass |
staining,detected |
R3349 |
T11275 |
T11274 |
prep |
above,staining |
R3350 |
T11276 |
T11275 |
pobj |
autofluorescence,above |
R3351 |
T11277 |
T11269 |
auxpass |
was,detected |
R3352 |
T11278 |
T11269 |
punct |
.,detected |
R3355 |
T12756 |
T12755 |
prep |
of,Analysis |
R3356 |
T12757 |
T12756 |
pobj |
ITPR1,of |
R3357 |
T12758 |
T12757 |
prep |
in,ITPR1 |
R3358 |
T12759 |
T12760 |
compound |
SCA15,patients |
R3359 |
T12760 |
T12758 |
pobj |
patients,in |
R3360 |
T12761 |
T12755 |
punct |
.,Analysis |
R3361 |
T12763 |
T12764 |
nsubjpass |
DNA,extracted |
R3362 |
T12765 |
T12764 |
auxpass |
was,extracted |
R3363 |
T12766 |
T12764 |
prep |
from,extracted |
R3364 |
T12767 |
T12768 |
nmod |
EBV,lymphocytes |
R3365 |
T12768 |
T12766 |
pobj |
lymphocytes,from |
R3366 |
T12769 |
T12768 |
amod |
immortalized,lymphocytes |
R3367 |
T12770 |
T12768 |
punct |
", ",lymphocytes |
R3368 |
T12771 |
T12768 |
acl |
derived,lymphocytes |
R3369 |
T12772 |
T12771 |
prep |
from,derived |
R3370 |
T12773 |
T12774 |
compound |
family,members |
R3371 |
T12774 |
T12772 |
pobj |
members,from |
R3372 |
T12775 |
T12764 |
punct |
.,extracted |
R3373 |
T12777 |
T12778 |
det |
The,exons |
R3374 |
T12778 |
T12780 |
nsubjpass |
exons,amplified |
R3375 |
T12779 |
T12778 |
amod |
coding,exons |
R3376 |
T12781 |
T12778 |
cc |
and,exons |
R3377 |
T12782 |
T12783 |
advmod |
at,50 |
R3378 |
T12783 |
T12785 |
nummod |
50,bp |
R3379 |
T12784 |
T12783 |
advmod |
least,50 |
R3380 |
T12785 |
T12778 |
conj |
bp,exons |
R3381 |
T12786 |
T12785 |
prep |
of,bp |
R3382 |
T12787 |
T12788 |
amod |
flanking,introns |
R3383 |
T12788 |
T12786 |
pobj |
introns,of |
R3384 |
T12789 |
T12788 |
prep |
of,introns |
R3385 |
T12790 |
T12789 |
pobj |
ITPR1,of |
R3386 |
T12791 |
T12780 |
auxpass |
were,amplified |
R3387 |
T12792 |
T12780 |
dep |
PCR,amplified |
R3388 |
T12793 |
T12780 |
cc |
and,amplified |
R3389 |
T12794 |
T12780 |
conj |
sequenced,amplified |
R3390 |
T12795 |
T12794 |
advcl |
using,sequenced |
R3391 |
T12796 |
T12797 |
compound |
dye,terminator |
R3392 |
T12797 |
T12799 |
compound |
terminator,sequencing |
R3393 |
T12798 |
T12797 |
punct |
-,terminator |
R3394 |
T12799 |
T12795 |
dobj |
sequencing,using |
R3395 |
T12800 |
T12801 |
punct |
(,Biosystems |
R3396 |
T12801 |
T12799 |
parataxis |
Biosystems,sequencing |
R3397 |
T12802 |
T12803 |
compound |
BigDye,version |
R3398 |
T12803 |
T12801 |
dep |
version,Biosystems |
R3399 |
T12804 |
T12803 |
nummod |
3.1,version |
R3400 |
T12805 |
T12801 |
punct |
;,Biosystems |
R3401 |
T12806 |
T12801 |
compound |
Applied,Biosystems |
R3402 |
T12807 |
T12801 |
punct |
", ",Biosystems |
R3403 |
T12808 |
T12801 |
npadvmod |
http://www.appliedbiosystems.com,Biosystems |
R3404 |
T12809 |
T12801 |
punct |
),Biosystems |
R3405 |
T12810 |
T12780 |
punct |
.,amplified |
R3406 |
T12812 |
T12813 |
compound |
Sequence,reactions |
R3407 |
T12813 |
T12814 |
nsubjpass |
reactions,run |
R3408 |
T12815 |
T12814 |
auxpass |
were,run |
R3409 |
T12816 |
T12814 |
prep |
on,run |
R3410 |
T12817 |
T12818 |
det |
an,sequencer |
R3411 |
T12818 |
T12816 |
pobj |
sequencer,on |
R3412 |
T12819 |
T12818 |
nmod |
ABI3730XP,sequencer |
R3413 |
T12820 |
T12818 |
amod |
automated,sequencer |
R3414 |
T12821 |
T12814 |
prep |
as,run |
R3415 |
T12822 |
T12821 |
prep |
per,as |
R3416 |
T12823 |
T12824 |
det |
the,manufacturer |
R3417 |
T12824 |
T12825 |
poss |
manufacturer,instructions |
R3418 |
T12825 |
T12822 |
pobj |
instructions,per |
R3419 |
T12826 |
T12824 |
case |
's,manufacturer |
R3420 |
T12827 |
T12828 |
punct |
(,Biosystems |
R3421 |
T12828 |
T12825 |
parataxis |
Biosystems,instructions |
R3422 |
T12829 |
T12828 |
compound |
Applied,Biosystems |
R3423 |
T12830 |
T12828 |
punct |
),Biosystems |
R3424 |
T12831 |
T12814 |
punct |
.,run |
R3425 |
T12833 |
T12834 |
det |
This,analysis |
R3426 |
T12834 |
T12835 |
nsubjpass |
analysis,performed |
R3427 |
T12836 |
T12835 |
auxpass |
was,performed |
R3428 |
T12837 |
T12835 |
prep |
in,performed |
R3429 |
T12838 |
T12839 |
det |
all,members |
R3430 |
T12839 |
T12837 |
pobj |
members,in |
R3431 |
T12840 |
T12839 |
nummod |
three,members |
R3432 |
T12841 |
T12839 |
amod |
affected,members |
R3433 |
T12842 |
T12839 |
compound |
family,members |
R3434 |
T12843 |
T12844 |
prep |
for,was |
R3435 |
T12844 |
T12839 |
relcl |
was,members |
R3436 |
T12845 |
T12843 |
pobj |
whom,for |
R3437 |
T12846 |
T12847 |
amod |
genomic,DNA |
R3438 |
T12847 |
T12844 |
nsubj |
DNA,was |
R3439 |
T12848 |
T12844 |
acomp |
available,was |
R3440 |
T12849 |
T12850 |
punct |
(,6 |
R3441 |
T12850 |
T12839 |
parataxis |
6,members |
R3442 |
T12851 |
T12850 |
nmod |
members,6 |
R3443 |
T12852 |
T12850 |
punct |
", ",6 |
R3444 |
T12853 |
T12850 |
conj |
7,6 |
R3445 |
T12854 |
T12853 |
punct |
", ",7 |
R3446 |
T12855 |
T12853 |
cc |
and,7 |
R3447 |
T12856 |
T12853 |
conj |
19,7 |
R3448 |
T12857 |
T12850 |
punct |
),6 |
R3449 |
T12858 |
T12835 |
punct |
.,performed |
R3450 |
T12860 |
T12861 |
compound |
Primer,sequences |
R3451 |
T12861 |
T12862 |
nsubj |
sequences,are |
R3452 |
T12863 |
T12861 |
cc |
and,sequences |
R3453 |
T12864 |
T12861 |
conj |
conditions,sequences |
R3454 |
T12865 |
T12862 |
acomp |
available,are |
R3455 |
T12866 |
T12862 |
prep |
upon,are |
R3456 |
T12867 |
T12866 |
pobj |
request,upon |
R3457 |
T12868 |
T12862 |
punct |
.,are |
R3458 |
T12870 |
T12871 |
compound |
Sequence,data |
R3459 |
T12871 |
T12872 |
nsubjpass |
data,analyzed |
R3460 |
T12873 |
T12872 |
auxpass |
were,analyzed |
R3461 |
T12874 |
T12872 |
advcl |
using,analyzed |
R3462 |
T12875 |
T12874 |
dobj |
Sequencher,using |
R3463 |
T12876 |
T12877 |
punct |
(,Corporation |
R3464 |
T12877 |
T12875 |
parataxis |
Corporation,Sequencher |
R3465 |
T12878 |
T12879 |
compound |
Gene,Codes |
R3466 |
T12879 |
T12877 |
compound |
Codes,Corporation |
R3467 |
T12880 |
T12877 |
punct |
", ",Corporation |
R3468 |
T12881 |
T12877 |
npadvmod |
http://www.genecodes.com,Corporation |
R3469 |
T12882 |
T12877 |
punct |
),Corporation |
R3470 |
T12883 |
T12872 |
punct |
.,analyzed |
R3471 |
T12885 |
T12886 |
npadvmod |
Genome,wide |
R3472 |
T12886 |
T12888 |
amod |
wide,genotyping |
R3473 |
T12887 |
T12886 |
punct |
-,wide |
R3474 |
T12888 |
T12890 |
nsubjpass |
genotyping,performed |
R3475 |
T12889 |
T12888 |
compound |
SNP,genotyping |
R3476 |
T12891 |
T12890 |
auxpass |
was,performed |
R3477 |
T12892 |
T12890 |
advcl |
using,performed |
R3478 |
T12893 |
T12894 |
compound |
Infinium,SNP |
R3479 |
T12894 |
T12896 |
compound |
SNP,chips |
R3480 |
T12895 |
T12894 |
compound |
HumanHap550,SNP |
R3481 |
T12896 |
T12892 |
dobj |
chips,using |
R3482 |
T12897 |
T12896 |
compound |
genotyping,chips |
R3483 |
T12898 |
T12892 |
prep |
as,using |
R3484 |
T12899 |
T12898 |
prep |
per,as |
R3485 |
T12900 |
T12901 |
det |
the,manufacturer |
R3486 |
T12901 |
T12902 |
poss |
manufacturer,protocol |
R3487 |
T12902 |
T12899 |
pobj |
protocol,per |
R3488 |
T12903 |
T12901 |
case |
's,manufacturer |
R3489 |
T12904 |
T12905 |
punct |
(,Illumina |
R3490 |
T12905 |
T12902 |
parataxis |
Illumina,protocol |
R3491 |
T12906 |
T12905 |
punct |
", ",Illumina |
R3492 |
T12907 |
T12905 |
npadvmod |
http://www.illumina.com,Illumina |
R3493 |
T12908 |
T12905 |
punct |
),Illumina |
R3494 |
T12909 |
T12890 |
punct |
.,performed |
R3495 |
T12911 |
T12912 |
det |
This,product |
R3496 |
T12912 |
T12913 |
nsubj |
product,assays |
R3497 |
T12914 |
T12915 |
nummod |
"555,352",SNPs |
R3498 |
T12915 |
T12913 |
dobj |
SNPs,assays |
R3499 |
T12916 |
T12915 |
amod |
unique,SNPs |
R3500 |
T12917 |
T12913 |
punct |
.,assays |
R3501 |
T12919 |
T12920 |
nsubjpass |
Data,collected |
R3502 |
T12921 |
T12920 |
auxpass |
were,collected |
R3503 |
T12922 |
T12920 |
advcl |
using,collected |
R3504 |
T12923 |
T12924 |
det |
the,scanner |
R3505 |
T12924 |
T12922 |
dobj |
scanner,using |
R3506 |
T12925 |
T12926 |
compound |
Illumina,BeadStation |
R3507 |
T12926 |
T12924 |
compound |
BeadStation,scanner |
R3508 |
T12927 |
T12924 |
cc |
and,scanner |
R3509 |
T12928 |
T12929 |
compound |
data,collection |
R3510 |
T12929 |
T12930 |
compound |
collection,software |
R3511 |
T12930 |
T12924 |
conj |
software,scanner |
R3512 |
T12931 |
T12920 |
punct |
.,collected |
R3513 |
T12933 |
T12934 |
nsubjpass |
Genotypes,produced |
R3514 |
T12935 |
T12934 |
auxpass |
were,produced |
R3515 |
T12936 |
T12934 |
advcl |
using,produced |
R3516 |
T12937 |
T12938 |
det |
the,module |
R3517 |
T12938 |
T12936 |
dobj |
module,using |
R3518 |
T12939 |
T12938 |
compound |
genotyping,module |
R3519 |
T12940 |
T12938 |
prep |
of,module |
R3520 |
T12941 |
T12940 |
pobj |
BeadStudio,of |
R3521 |
T12942 |
T12943 |
punct |
(,version |
R3522 |
T12943 |
T12941 |
parataxis |
version,BeadStudio |
R3523 |
T12944 |
T12943 |
nummod |
2.3.25,version |
R3524 |
T12945 |
T12943 |
punct |
;,version |
R3525 |
T12946 |
T12943 |
appos |
Illumina,version |
R3526 |
T12947 |
T12943 |
punct |
),version |
R3527 |
T12948 |
T12934 |
punct |
", ",produced |
R3528 |
T12949 |
T12934 |
cc |
and,produced |
R3529 |
T12950 |
T12951 |
compound |
log,R |
R3530 |
T12951 |
T12952 |
compound |
R,ratio |
R3531 |
T12952 |
T12953 |
nsubjpass |
ratio,visualized |
R3532 |
T12953 |
T12934 |
conj |
visualized,produced |
R3533 |
T12954 |
T12952 |
cc |
and,ratio |
R3534 |
T12955 |
T12956 |
compound |
B,allele |
R3535 |
T12956 |
T12957 |
compound |
allele,frequency |
R3536 |
T12957 |
T12952 |
conj |
frequency,ratio |
R3537 |
T12958 |
T12953 |
auxpass |
were,visualized |
R3538 |
T12959 |
T12953 |
advcl |
using,visualized |
R3539 |
T12960 |
T12961 |
det |
the,tool |
R3540 |
T12961 |
T12959 |
dobj |
tool,using |
R3541 |
T12962 |
T12961 |
nmod |
genome,tool |
R3542 |
T12963 |
T12962 |
amod |
viewer,genome |
R3543 |
T12964 |
T12961 |
prep |
within,tool |
R3544 |
T12965 |
T12966 |
det |
this,package |
R3545 |
T12966 |
T12964 |
pobj |
package,within |
R3546 |
T12967 |
T12953 |
punct |
.,visualized |
R3547 |
T12969 |
T12970 |
prep |
In,examined |
R3548 |
T12971 |
T12969 |
pobj |
order,In |
R3549 |
T12972 |
T12973 |
aux |
to,rule |
R3550 |
T12973 |
T12971 |
acl |
rule,order |
R3551 |
T12974 |
T12973 |
prt |
out,rule |
R3552 |
T12975 |
T12976 |
det |
the,possibility |
R3553 |
T12976 |
T12973 |
dobj |
possibility,rule |
R3554 |
T12977 |
T12978 |
mark |
that,was |
R3555 |
T12978 |
T12976 |
acl |
was,possibility |
R3556 |
T12979 |
T12980 |
det |
the,deletion |
R3557 |
T12980 |
T12978 |
nsubj |
deletion,was |
R3558 |
T12981 |
T12980 |
amod |
observed,deletion |
R3559 |
T12982 |
T12980 |
prep |
within,deletion |
R3560 |
T12983 |
T12982 |
pobj |
ITPR1,within |
R3561 |
T12984 |
T12985 |
det |
a,variant |
R3562 |
T12985 |
T12978 |
attr |
variant,was |
R3563 |
T12986 |
T12985 |
amod |
benign,variant |
R3564 |
T12987 |
T12985 |
compound |
copy,variant |
R3565 |
T12988 |
T12985 |
compound |
number,variant |
R3566 |
T12989 |
T12970 |
nsubj |
we,examined |
R3567 |
T12990 |
T12991 |
nmod |
log,R |
R3568 |
T12991 |
T12992 |
nmod |
R,ratio |
R3569 |
T12992 |
T12993 |
nmod |
ratio,metrics |
R3570 |
T12993 |
T12970 |
dobj |
metrics,examined |
R3571 |
T12994 |
T12992 |
cc |
and,ratio |
R3572 |
T12995 |
T12996 |
compound |
B,allele |
R3573 |
T12996 |
T12997 |
compound |
allele,frequency |
R3574 |
T12997 |
T12992 |
conj |
frequency,ratio |
R3575 |
T12998 |
T12993 |
prep |
of,metrics |
R3576 |
T12999 |
T13000 |
compound |
HumanHap550,data |
R3577 |
T13000 |
T12998 |
pobj |
data,of |
R3578 |
T13001 |
T13000 |
compound |
genotyping,data |
R3579 |
T13002 |
T13000 |
prep |
at,data |
R3580 |
T13003 |
T13004 |
det |
this,locus |
R3581 |
T13004 |
T13002 |
pobj |
locus,at |
R3582 |
T13005 |
T13000 |
prep |
from,data |
R3583 |
T13006 |
T13007 |
nummod |
577,individuals |
R3584 |
T13007 |
T13005 |
pobj |
individuals,from |
R3585 |
T13008 |
T13007 |
prep |
of,individuals |
R3586 |
T13009 |
T13010 |
amod |
Northern,European |
R3587 |
T13010 |
T13011 |
amod |
European,descent |
R3588 |
T13011 |
T13008 |
pobj |
descent,of |
R3589 |
T13012 |
T13007 |
prep |
from,individuals |
R3590 |
T13013 |
T13014 |
compound |
North,America |
R3591 |
T13014 |
T13012 |
pobj |
America,from |
R3592 |
T13015 |
T13014 |
cc |
and,America |
R3593 |
T13016 |
T13014 |
conj |
Europe,America |
R3594 |
T13017 |
T13000 |
punct |
", ",data |
R3595 |
T13018 |
T13000 |
acl |
produced,data |
R3596 |
T13019 |
T13018 |
agent |
by,produced |
R3597 |
T13020 |
T13019 |
pobj |
us,by |
R3598 |
T13021 |
T13018 |
prep |
as,produced |
R3599 |
T13022 |
T13023 |
det |
a,part |
R3600 |
T13023 |
T13021 |
pobj |
part,as |
R3601 |
T13024 |
T13023 |
prep |
of,part |
R3602 |
T13025 |
T13026 |
det |
an,study |
R3603 |
T13026 |
T13024 |
pobj |
study,of |
R3604 |
T13027 |
T13026 |
amod |
ongoing,study |
R3605 |
T13028 |
T12970 |
punct |
.,examined |
R3606 |
T13030 |
T13031 |
prep |
In,designed |
R3607 |
T13032 |
T13033 |
det |
an,attempt |
R3608 |
T13033 |
T13030 |
pobj |
attempt,In |
R3609 |
T13034 |
T13035 |
aux |
to,narrow |
R3610 |
T13035 |
T13033 |
acl |
narrow,attempt |
R3611 |
T13036 |
T13037 |
det |
the,intervals |
R3612 |
T13037 |
T13035 |
dobj |
intervals,narrow |
R3613 |
T13038 |
T13037 |
amod |
unknown,intervals |
R3614 |
T13039 |
T13037 |
acl |
flanking,intervals |
R3615 |
T13040 |
T13041 |
det |
the,deletion |
R3616 |
T13041 |
T13039 |
dobj |
deletion,flanking |
R3617 |
T13042 |
T13041 |
acl |
observed,deletion |
R3618 |
T13043 |
T13042 |
prep |
in,observed |
R3619 |
T13044 |
T13045 |
compound |
family,AUS1 |
R3620 |
T13045 |
T13043 |
pobj |
AUS1,in |
R3621 |
T13046 |
T13031 |
punct |
", ",designed |
R3622 |
T13047 |
T13031 |
nsubj |
we,designed |
R3623 |
T13048 |
T13031 |
dobj |
primers,designed |
R3624 |
T13049 |
T13048 |
prep |
for,primers |
R3625 |
T13050 |
T13051 |
nummod |
30,amplifications |
R3626 |
T13051 |
T13049 |
pobj |
amplifications,for |
R3627 |
T13052 |
T13051 |
compound |
PCR,amplifications |
R3628 |
T13053 |
T13054 |
dep |
that,generate |
R3629 |
T13054 |
T13051 |
relcl |
generate,amplifications |
R3630 |
T13055 |
T13054 |
aux |
would,generate |
R3631 |
T13056 |
T13057 |
amod |
overlapping,fragments |
R3632 |
T13057 |
T13054 |
dobj |
fragments,generate |
R3633 |
T13058 |
T13054 |
prep |
across,generate |
R3634 |
T13059 |
T13060 |
det |
the,regions |
R3635 |
T13060 |
T13058 |
pobj |
regions,across |
R3636 |
T13061 |
T13060 |
nummod |
two,regions |
R3637 |
T13062 |
T13060 |
compound |
bordering,regions |
R3638 |
T13063 |
T13064 |
punct |
(,sequence |
R3639 |
T13064 |
T13060 |
parataxis |
sequence,regions |
R3640 |
T13065 |
T13064 |
compound |
primer,sequence |
R3641 |
T13066 |
T13064 |
cc |
and,sequence |
R3642 |
T13067 |
T13064 |
conj |
conditions,sequence |
R3643 |
T13068 |
T13064 |
amod |
available,sequence |
R3644 |
T13069 |
T13068 |
prep |
upon,available |
R3645 |
T13070 |
T13069 |
pobj |
request,upon |
R3646 |
T13071 |
T13064 |
punct |
),sequence |
R3647 |
T13072 |
T13031 |
punct |
.,designed |
R3648 |
T13074 |
T13075 |
expl |
There,were |
R3649 |
T13076 |
T13077 |
nummod |
ten,pairs |
R3650 |
T13077 |
T13075 |
attr |
pairs,were |
R3651 |
T13078 |
T13077 |
compound |
primer,pairs |
R3652 |
T13079 |
T13077 |
prep |
in,pairs |
R3653 |
T13080 |
T13081 |
det |
the,region |
R3654 |
T13081 |
T13079 |
pobj |
region,in |
R3655 |
T13082 |
T13081 |
amod |
telomeric,region |
R3656 |
T13083 |
T13081 |
compound |
flanking,region |
R3657 |
T13084 |
T13077 |
cc |
and,pairs |
R3658 |
T13085 |
T13086 |
nummod |
20,pairs |
R3659 |
T13086 |
T13077 |
conj |
pairs,pairs |
R3660 |
T13087 |
T13086 |
prep |
in,pairs |
R3661 |
T13088 |
T13089 |
det |
the,region |
R3662 |
T13089 |
T13087 |
pobj |
region,in |
R3663 |
T13090 |
T13089 |
amod |
centromeric,region |
R3664 |
T13091 |
T13089 |
compound |
flanking,region |
R3665 |
T13092 |
T13093 |
punct |
(,S3 |
R3666 |
T13093 |
T13075 |
parataxis |
S3,were |
R3667 |
T13094 |
T13093 |
compound |
Figure,S3 |
R3668 |
T13095 |
T13093 |
punct |
),S3 |
R3669 |
T13096 |
T13075 |
punct |
.,were |
R3670 |
T13098 |
T13099 |
prep |
On,was |
R3671 |
T13100 |
T13098 |
amod |
average,On |
R3672 |
T13101 |
T13102 |
det |
each,product |
R3673 |
T13102 |
T13099 |
nsubj |
product,was |
R3674 |
T13103 |
T13104 |
punct |
~,750 |
R3675 |
T13104 |
T13105 |
nummod |
750,bp |
R3676 |
T13105 |
T13099 |
attr |
bp,was |
R3677 |
T13106 |
T13105 |
prep |
in,bp |
R3678 |
T13107 |
T13106 |
pobj |
size,in |
R3679 |
T13108 |
T13099 |
punct |
", ",was |
R3680 |
T13109 |
T13099 |
cc |
and,was |
R3681 |
T13110 |
T13111 |
nsubjpass |
amplifications,performed |
R3682 |
T13111 |
T13099 |
conj |
performed,was |
R3683 |
T13112 |
T13111 |
auxpass |
were,performed |
R3684 |
T13113 |
T13111 |
advcl |
using,performed |
R3685 |
T13114 |
T13115 |
amod |
genomic,DNA |
R3686 |
T13115 |
T13113 |
dobj |
DNA,using |
R3687 |
T13116 |
T13113 |
prep |
from,using |
R3688 |
T13117 |
T13116 |
pobj |
each,from |
R3689 |
T13118 |
T13117 |
prep |
of,each |
R3690 |
T13119 |
T13120 |
det |
the,individuals |
R3691 |
T13120 |
T13118 |
pobj |
individuals,of |
R3692 |
T13121 |
T13120 |
nummod |
three,individuals |
R3693 |
T13122 |
T13120 |
amod |
affected,individuals |
R3694 |
T13123 |
T13124 |
punct |
(,6 |
R3695 |
T13124 |
T13120 |
parataxis |
6,individuals |
R3696 |
T13125 |
T13124 |
nmod |
family,6 |
R3697 |
T13126 |
T13124 |
nmod |
members,6 |
R3698 |
T13127 |
T13124 |
punct |
", ",6 |
R3699 |
T13128 |
T13124 |
conj |
7,6 |
R3700 |
T13129 |
T13128 |
punct |
", ",7 |
R3701 |
T13130 |
T13128 |
cc |
and,7 |
R3702 |
T13131 |
T13128 |
conj |
19,7 |
R3703 |
T13132 |
T13124 |
punct |
),6 |
R3704 |
T13133 |
T13111 |
punct |
.,performed |
R3705 |
T13135 |
T13136 |
compound |
Dye,terminator |
R3706 |
T13136 |
T13138 |
compound |
terminator,sequencing |
R3707 |
T13137 |
T13136 |
punct |
-,terminator |
R3708 |
T13138 |
T13139 |
nsubjpass |
sequencing,performed |
R3709 |
T13139 |
T13144 |
ccomp |
performed,performed |
R3710 |
T13140 |
T13138 |
prep |
of,sequencing |
R3711 |
T13141 |
T13142 |
det |
each,product |
R3712 |
T13142 |
T13140 |
pobj |
product,of |
R3713 |
T13143 |
T13139 |
auxpass |
was,performed |
R3714 |
T13145 |
T13139 |
advcl |
using,performed |
R3715 |
T13146 |
T13147 |
det |
the,primers |
R3716 |
T13147 |
T13145 |
dobj |
primers,using |
R3717 |
T13148 |
T13147 |
amod |
forward,primers |
R3718 |
T13149 |
T13148 |
cc |
and,forward |
R3719 |
T13150 |
T13148 |
conj |
reverse,forward |
R3720 |
T13151 |
T13147 |
acl |
designed,primers |
R3721 |
T13152 |
T13151 |
prep |
for,designed |
R3722 |
T13153 |
T13152 |
pobj |
amplification,for |
R3723 |
T13154 |
T13144 |
punct |
;,performed |
R3724 |
T13155 |
T13156 |
amod |
running,analysis |
R3725 |
T13156 |
T13144 |
nsubjpass |
analysis,performed |
R3726 |
T13157 |
T13156 |
cc |
and,analysis |
R3727 |
T13158 |
T13156 |
prep |
of,analysis |
R3728 |
T13159 |
T13160 |
det |
each,fragment |
R3729 |
T13160 |
T13158 |
pobj |
fragment,of |
R3730 |
T13161 |
T13144 |
auxpass |
was,performed |
R3731 |
T13162 |
T13163 |
mark |
as,described |
R3732 |
T13163 |
T13144 |
advcl |
described,performed |
R3733 |
T13164 |
T13163 |
advmod |
above,described |
R3734 |
T13165 |
T13144 |
punct |
.,performed |
R3735 |
T13167 |
T13168 |
nsubjpass |
Amplification,denoted |
R3736 |
T13168 |
T13178 |
ccomp |
denoted,inferred |
R3737 |
T13169 |
T13167 |
prep |
of,Amplification |
R3738 |
T13170 |
T13171 |
det |
a,fragment |
R3739 |
T13171 |
T13169 |
pobj |
fragment,of |
R3740 |
T13172 |
T13171 |
prep |
from,fragment |
R3741 |
T13173 |
T13174 |
det |
a,genome |
R3742 |
T13174 |
T13172 |
pobj |
genome,from |
R3743 |
T13175 |
T13174 |
amod |
normal,genome |
R3744 |
T13176 |
T13174 |
amod |
diploid,genome |
R3745 |
T13177 |
T13168 |
auxpass |
was,denoted |
R3746 |
T13179 |
T13168 |
agent |
by,denoted |
R3747 |
T13180 |
T13181 |
det |
the,presence |
R3748 |
T13181 |
T13179 |
pobj |
presence,by |
R3749 |
T13182 |
T13181 |
prep |
of,presence |
R3750 |
T13183 |
T13184 |
det |
a,polymorphism |
R3751 |
T13184 |
T13182 |
pobj |
polymorphism,of |
R3752 |
T13185 |
T13184 |
amod |
heterozygous,polymorphism |
R3753 |
T13186 |
T13178 |
punct |
;,inferred |
R3754 |
T13187 |
T13178 |
nsubjpass |
amplification,inferred |
R3755 |
T13188 |
T13187 |
prep |
of,amplification |
R3756 |
T13189 |
T13190 |
det |
a,fragment |
R3757 |
T13190 |
T13188 |
pobj |
fragment,of |
R3758 |
T13191 |
T13190 |
prep |
from,fragment |
R3759 |
T13192 |
T13193 |
det |
a,region |
R3760 |
T13193 |
T13191 |
pobj |
region,from |
R3761 |
T13194 |
T13193 |
prep |
of,region |
R3762 |
T13195 |
T13196 |
det |
the,genome |
R3763 |
T13196 |
T13194 |
pobj |
genome,of |
R3764 |
T13197 |
T13196 |
acl |
harboring,genome |
R3765 |
T13198 |
T13199 |
det |
a,deletion |
R3766 |
T13199 |
T13197 |
dobj |
deletion,harboring |
R3767 |
T13200 |
T13199 |
amod |
heterozygous,deletion |
R3768 |
T13201 |
T13199 |
amod |
genomic,deletion |
R3769 |
T13202 |
T13178 |
auxpass |
was,inferred |
R3770 |
T13203 |
T13204 |
advmod |
when,noted |
R3771 |
T13204 |
T13178 |
advcl |
noted,inferred |
R3772 |
T13205 |
T13204 |
nsubjpass |
homozygosity,noted |
R3773 |
T13206 |
T13205 |
prep |
for,homozygosity |
R3774 |
T13207 |
T13208 |
det |
the,allele |
R3775 |
T13208 |
T13206 |
pobj |
allele,for |
R3776 |
T13209 |
T13208 |
amod |
major,allele |
R3777 |
T13210 |
T13208 |
cc |
and,allele |
R3778 |
T13211 |
T13212 |
det |
the,allele |
R3779 |
T13212 |
T13208 |
conj |
allele,allele |
R3780 |
T13213 |
T13212 |
amod |
minor,allele |
R3781 |
T13214 |
T13204 |
auxpass |
were,noted |
R3782 |
T13215 |
T13204 |
prep |
among,noted |
R3783 |
T13216 |
T13217 |
det |
the,members |
R3784 |
T13217 |
T13215 |
pobj |
members,among |
R3785 |
T13218 |
T13217 |
nummod |
three,members |
R3786 |
T13219 |
T13217 |
amod |
affected,members |
R3787 |
T13220 |
T13217 |
compound |
family,members |
R3788 |
T13221 |
T13222 |
punct |
(,is |
R3789 |
T13222 |
T13204 |
parataxis |
is,noted |
R3790 |
T13223 |
T13222 |
advmod |
i.e.,is |
R3791 |
T13224 |
T13222 |
punct |
", ",is |
R3792 |
T13225 |
T13222 |
nsubj |
this,is |
R3793 |
T13226 |
T13222 |
acomp |
inconsistent,is |
R3794 |
T13227 |
T13226 |
prep |
with,inconsistent |
R3795 |
T13228 |
T13229 |
amod |
Mendelian,inheritance |
R3796 |
T13229 |
T13227 |
pobj |
inheritance,with |
R3797 |
T13230 |
T13229 |
prep |
in,inheritance |
R3798 |
T13231 |
T13232 |
amod |
related,individuals |
R3799 |
T13232 |
T13230 |
pobj |
individuals,in |
R3800 |
T13233 |
T13232 |
acl |
known,individuals |
R3801 |
T13234 |
T13235 |
aux |
to,share |
R3802 |
T13235 |
T13233 |
xcomp |
share,known |
R3803 |
T13236 |
T13237 |
det |
a,haplotype |
R3804 |
T13237 |
T13235 |
dobj |
haplotype,share |
R3805 |
T13238 |
T13237 |
amod |
common,haplotype |
R3806 |
T13239 |
T13222 |
punct |
),is |
R3807 |
T13240 |
T13178 |
punct |
.,inferred |
R3808 |
T13242 |
T13243 |
advcl |
Using,were |
R3809 |
T13244 |
T13245 |
det |
the,data |
R3810 |
T13245 |
T13242 |
dobj |
data,Using |
R3811 |
T13246 |
T13242 |
prep |
from,Using |
R3812 |
T13247 |
T13248 |
det |
the,experiments |
R3813 |
T13248 |
T13246 |
pobj |
experiments,from |
R3814 |
T13249 |
T13248 |
acl |
described,experiments |
R3815 |
T13250 |
T13249 |
advmod |
above,described |
R3816 |
T13251 |
T13243 |
nsubj |
we,were |
R3817 |
T13252 |
T13243 |
acomp |
able,were |
R3818 |
T13253 |
T13254 |
aux |
to,limit |
R3819 |
T13254 |
T13252 |
xcomp |
limit,able |
R3820 |
T13255 |
T13256 |
det |
the,size |
R3821 |
T13256 |
T13254 |
dobj |
size,limit |
R3822 |
T13257 |
T13256 |
prep |
of,size |
R3823 |
T13258 |
T13259 |
amod |
unknown,regions |
R3824 |
T13259 |
T13257 |
pobj |
regions,of |
R3825 |
T13260 |
T13259 |
acl |
flanking,regions |
R3826 |
T13261 |
T13262 |
det |
the,deletion |
R3827 |
T13262 |
T13260 |
dobj |
deletion,flanking |
R3828 |
T13263 |
T13254 |
prep |
to,limit |
R3829 |
T13264 |
T13265 |
punct |
~,4 |
R3830 |
T13265 |
T13266 |
nummod |
4,kb |
R3831 |
T13266 |
T13263 |
pobj |
kb,to |
R3832 |
T13267 |
T13266 |
prep |
on,kb |
R3833 |
T13268 |
T13269 |
det |
the,side |
R3834 |
T13269 |
T13267 |
pobj |
side,on |
R3835 |
T13270 |
T13269 |
amod |
telomeric,side |
R3836 |
T13271 |
T13266 |
cc |
and,kb |
R3837 |
T13272 |
T13273 |
nummod |
7,kb |
R3838 |
T13273 |
T13266 |
conj |
kb,kb |
R3839 |
T13274 |
T13273 |
prep |
on,kb |
R3840 |
T13275 |
T13276 |
det |
the,side |
R3841 |
T13276 |
T13274 |
pobj |
side,on |
R3842 |
T13277 |
T13276 |
amod |
centromeric,side |
R3843 |
T13278 |
T13243 |
punct |
.,were |
R3844 |
T13280 |
T13281 |
det |
All,combinations |
R3845 |
T13281 |
T13282 |
nsubjpass |
combinations,used |
R3846 |
T13283 |
T13281 |
prep |
of,combinations |
R3847 |
T13284 |
T13285 |
amod |
forward,primers |
R3848 |
T13285 |
T13283 |
pobj |
primers,of |
R3849 |
T13286 |
T13285 |
prep |
from,primers |
R3850 |
T13287 |
T13288 |
det |
the,region |
R3851 |
T13288 |
T13286 |
pobj |
region,from |
R3852 |
T13289 |
T13290 |
advmod |
newly,defined |
R3853 |
T13290 |
T13288 |
amod |
defined,region |
R3854 |
T13291 |
T13281 |
acl |
flanking,combinations |
R3855 |
T13292 |
T13293 |
det |
the,deletion |
R3856 |
T13293 |
T13291 |
dobj |
deletion,flanking |
R3857 |
T13294 |
T13291 |
prep |
on,flanking |
R3858 |
T13295 |
T13296 |
det |
the,side |
R3859 |
T13296 |
T13294 |
pobj |
side,on |
R3860 |
T13297 |
T13296 |
amod |
telomeric,side |
R3861 |
T13298 |
T13291 |
prep |
with,flanking |
R3862 |
T13299 |
T13300 |
amod |
reverse,primers |
R3863 |
T13300 |
T13298 |
pobj |
primers,with |
R3864 |
T13301 |
T13300 |
prep |
from,primers |
R3865 |
T13302 |
T13303 |
det |
the,region |
R3866 |
T13303 |
T13301 |
pobj |
region,from |
R3867 |
T13304 |
T13305 |
advmod |
newly,defined |
R3868 |
T13305 |
T13303 |
amod |
defined,region |
R3869 |
T13306 |
T13300 |
acl |
flanking,primers |
R3870 |
T13307 |
T13308 |
det |
the,deletion |
R3871 |
T13308 |
T13306 |
dobj |
deletion,flanking |
R3872 |
T13309 |
T13306 |
prep |
on,flanking |
R3873 |
T13310 |
T13311 |
det |
the,side |
R3874 |
T13311 |
T13309 |
pobj |
side,on |
R3875 |
T13312 |
T13311 |
amod |
centromeric,side |
R3876 |
T13313 |
T13282 |
auxpass |
were,used |
R3877 |
T13314 |
T13282 |
prep |
in,used |
R3878 |
T13315 |
T13316 |
compound |
PCR,amplification |
R3879 |
T13316 |
T13317 |
compound |
amplification,reactions |
R3880 |
T13317 |
T13314 |
pobj |
reactions,in |
R3881 |
T13318 |
T13317 |
acl |
performed,reactions |
R3882 |
T13319 |
T13318 |
prep |
with,performed |
R3883 |
T13320 |
T13319 |
pobj |
DNA,with |
R3884 |
T13321 |
T13320 |
prep |
from,DNA |
R3885 |
T13322 |
T13323 |
det |
the,members |
R3886 |
T13323 |
T13321 |
pobj |
members,from |
R3887 |
T13324 |
T13323 |
nummod |
three,members |
R3888 |
T13325 |
T13323 |
amod |
affected,members |
R3889 |
T13326 |
T13323 |
compound |
family,members |
R3890 |
T13327 |
T13323 |
cc |
and,members |
R3891 |
T13328 |
T13329 |
amod |
single,members |
R3892 |
T13329 |
T13323 |
conj |
members,members |
R3893 |
T13330 |
T13329 |
amod |
unaffected,members |
R3894 |
T13331 |
T13329 |
compound |
family,members |
R3895 |
T13332 |
T13282 |
punct |
.,used |
R3896 |
T13334 |
T13335 |
det |
This,experiment |
R3897 |
T13335 |
T13336 |
nsubjpass |
experiment,performed |
R3898 |
T13337 |
T13336 |
auxpass |
was,performed |
R3899 |
T13338 |
T13336 |
prep |
in,performed |
R3900 |
T13339 |
T13340 |
det |
an,attempt |
R3901 |
T13340 |
T13338 |
pobj |
attempt,in |
R3902 |
T13341 |
T13342 |
aux |
to,amplify |
R3903 |
T13342 |
T13340 |
acl |
amplify,attempt |
R3904 |
T13343 |
T13342 |
prep |
across,amplify |
R3905 |
T13344 |
T13345 |
det |
the,fragment |
R3906 |
T13345 |
T13343 |
pobj |
fragment,across |
R3907 |
T13346 |
T13345 |
amod |
deleted,fragment |
R3908 |
T13347 |
T13342 |
cc |
and,amplify |
R3909 |
T13348 |
T13342 |
conj |
define,amplify |
R3910 |
T13349 |
T13350 |
det |
the,breakpoint |
R3911 |
T13350 |
T13348 |
dobj |
breakpoint,define |
R3912 |
T13351 |
T13350 |
amod |
exact,breakpoint |
R3913 |
T13352 |
T13336 |
punct |
.,performed |
R3914 |
T13354 |
T13355 |
det |
A,fragment |
R3915 |
T13355 |
T13357 |
nsubjpass |
fragment,obtained |
R3916 |
T13356 |
T13355 |
amod |
single,fragment |
R3917 |
T13358 |
T13357 |
auxpass |
was,obtained |
R3918 |
T13359 |
T13357 |
prep |
from,obtained |
R3919 |
T13360 |
T13361 |
det |
the,primer |
R3920 |
T13361 |
T13359 |
pobj |
primer,from |
R3921 |
T13362 |
T13361 |
amod |
third,primer |
R3922 |
T13363 |
T13361 |
amod |
forward,primer |
R3923 |
T13364 |
T13361 |
prep |
from,primer |
R3924 |
T13365 |
T13366 |
det |
the,side |
R3925 |
T13366 |
T13364 |
pobj |
side,from |
R3926 |
T13367 |
T13366 |
amod |
telomeric,side |
R3927 |
T13368 |
T13369 |
punct |
(,TGAATGCTCAATTTTCCAGC |
R3928 |
T13369 |
T13361 |
parataxis |
TGAATGCTCAATTTTCCAGC,primer |
R3929 |
T13370 |
T13369 |
nmod |
T3f,TGAATGCTCAATTTTCCAGC |
R3930 |
T13371 |
T13369 |
nummod |
5,TGAATGCTCAATTTTCCAGC |
R3931 |
T13372 |
T13371 |
punct |
′,5 |
R3932 |
T13373 |
T13369 |
punct |
-,TGAATGCTCAATTTTCCAGC |
R3933 |
T13374 |
T13369 |
punct |
-,TGAATGCTCAATTTTCCAGC |
R3934 |
T13375 |
T13369 |
nummod |
3,TGAATGCTCAATTTTCCAGC |
R3935 |
T13376 |
T13369 |
punct |
′,TGAATGCTCAATTTTCCAGC |
R3936 |
T13377 |
T13369 |
punct |
),TGAATGCTCAATTTTCCAGC |
R3937 |
T13378 |
T13357 |
prep |
with,obtained |
R3938 |
T13379 |
T13380 |
det |
the,primer |
R3939 |
T13380 |
T13378 |
pobj |
primer,with |
R3940 |
T13381 |
T13380 |
amod |
11th,primer |
R3941 |
T13382 |
T13380 |
amod |
reverse,primer |
R3942 |
T13383 |
T13380 |
prep |
from,primer |
R3943 |
T13384 |
T13385 |
det |
the,side |
R3944 |
T13385 |
T13383 |
pobj |
side,from |
R3945 |
T13386 |
T13385 |
amod |
centromeric,side |
R3946 |
T13387 |
T13388 |
punct |
(,GGGAAAATGGATAGAGGGTG |
R3947 |
T13388 |
T13380 |
parataxis |
GGGAAAATGGATAGAGGGTG,primer |
R3948 |
T13389 |
T13388 |
nmod |
C11r,GGGAAAATGGATAGAGGGTG |
R3949 |
T13390 |
T13388 |
nummod |
5,GGGAAAATGGATAGAGGGTG |
R3950 |
T13391 |
T13390 |
punct |
′,5 |
R3951 |
T13392 |
T13388 |
punct |
-,GGGAAAATGGATAGAGGGTG |
R3952 |
T13393 |
T13388 |
punct |
-,GGGAAAATGGATAGAGGGTG |
R3953 |
T13394 |
T13388 |
nummod |
3,GGGAAAATGGATAGAGGGTG |
R3954 |
T13395 |
T13388 |
punct |
′,GGGAAAATGGATAGAGGGTG |
R3955 |
T13396 |
T13388 |
punct |
),GGGAAAATGGATAGAGGGTG |
R3956 |
T13397 |
T13357 |
punct |
.,obtained |
R3957 |
T13399 |
T13400 |
det |
The,fragment |
R3958 |
T13400 |
T13401 |
nsubjpass |
fragment,sequenced |
R3959 |
T13402 |
T13400 |
punct |
", ",fragment |
R3960 |
T13403 |
T13404 |
dep |
which,is |
R3961 |
T13404 |
T13400 |
relcl |
is,fragment |
R3962 |
T13405 |
T13406 |
nummod |
953,bp |
R3963 |
T13406 |
T13404 |
attr |
bp,is |
R3964 |
T13407 |
T13406 |
prep |
in,bp |
R3965 |
T13408 |
T13407 |
pobj |
size,in |
R3966 |
T13409 |
T13401 |
punct |
", ",sequenced |
R3967 |
T13410 |
T13401 |
auxpass |
was,sequenced |
R3968 |
T13411 |
T13412 |
mark |
as,described |
R3969 |
T13412 |
T13401 |
advcl |
described,sequenced |
R3970 |
T13413 |
T13412 |
advmod |
above,described |
R3971 |
T13414 |
T13412 |
cc |
and,described |
R3972 |
T13415 |
T13412 |
conj |
compared,described |
R3973 |
T13416 |
T13415 |
prep |
to,compared |
R3974 |
T13417 |
T13418 |
det |
the,build |
R3975 |
T13418 |
T13416 |
pobj |
build,to |
R3976 |
T13419 |
T13418 |
amod |
current,build |
R3977 |
T13420 |
T13418 |
prep |
of,build |
R3978 |
T13421 |
T13422 |
det |
the,genome |
R3979 |
T13422 |
T13420 |
pobj |
genome,of |
R3980 |
T13423 |
T13422 |
amod |
human,genome |
R3981 |
T13424 |
T13401 |
punct |
.,sequenced |
R3982 |
T13426 |
T13427 |
det |
A,series |
R3983 |
T13427 |
T13429 |
nsubjpass |
series,performed |
R3984 |
T13428 |
T13427 |
amod |
similar,series |
R3985 |
T13429 |
T13433 |
ccomp |
performed,were |
R3986 |
T13430 |
T13427 |
prep |
of,series |
R3987 |
T13431 |
T13430 |
pobj |
experiments,of |
R3988 |
T13432 |
T13429 |
auxpass |
was,performed |
R3989 |
T13434 |
T13435 |
aux |
to,identify |
R3990 |
T13435 |
T13429 |
advcl |
identify,performed |
R3991 |
T13436 |
T13437 |
det |
the,breakpoints |
R3992 |
T13437 |
T13435 |
dobj |
breakpoints,identify |
R3993 |
T13438 |
T13437 |
compound |
deletion,breakpoints |
R3994 |
T13439 |
T13437 |
prep |
in,breakpoints |
R3995 |
T13440 |
T13441 |
compound |
families,H27 |
R3996 |
T13441 |
T13439 |
pobj |
H27,in |
R3997 |
T13442 |
T13441 |
cc |
and,H27 |
R3998 |
T13443 |
T13441 |
conj |
H33,H27 |
R3999 |
T13444 |
T13433 |
punct |
;,were |
R4000 |
T13445 |
T13433 |
nsubj |
we,were |
R4001 |
T13446 |
T13433 |
acomp |
able,were |
R4002 |
T13447 |
T13448 |
aux |
to,amplify |
R4003 |
T13448 |
T13446 |
xcomp |
amplify,able |
R4004 |
T13449 |
T13450 |
det |
a,product |
R4005 |
T13450 |
T13448 |
dobj |
product,amplify |
R4006 |
T13451 |
T13452 |
nummod |
369,bp |
R4007 |
T13452 |
T13450 |
compound |
bp,product |
R4008 |
T13453 |
T13452 |
punct |
-,bp |
R4009 |
T13454 |
T13450 |
compound |
PCR,product |
R4010 |
T13455 |
T13448 |
prep |
across,amplify |
R4011 |
T13456 |
T13457 |
det |
the,breakpoint |
R4012 |
T13457 |
T13455 |
pobj |
breakpoint,across |
R4013 |
T13458 |
T13457 |
acl |
found,breakpoint |
R4014 |
T13459 |
T13458 |
prep |
in,found |
R4015 |
T13460 |
T13461 |
amod |
affected,members |
R4016 |
T13461 |
T13459 |
pobj |
members,in |
R4017 |
T13462 |
T13461 |
prep |
of,members |
R4018 |
T13463 |
T13464 |
compound |
family,H27 |
R4019 |
T13464 |
T13462 |
pobj |
H27,of |
R4020 |
T13465 |
T13448 |
advcl |
using,amplify |
R4021 |
T13466 |
T13467 |
compound |
primer,pair |
R4022 |
T13467 |
T13465 |
dobj |
pair,using |
R4023 |
T13468 |
T13469 |
nmod |
H27,11F |
R4024 |
T13469 |
T13471 |
nmod |
11F,GACCTCAAGAAGGCATGAATAC |
R4025 |
T13470 |
T13469 |
punct |
-,11F |
R4026 |
T13471 |
T13467 |
appos |
GACCTCAAGAAGGCATGAATAC,pair |
R4027 |
T13472 |
T13471 |
nummod |
5,GACCTCAAGAAGGCATGAATAC |
R4028 |
T13473 |
T13472 |
punct |
′,5 |
R4029 |
T13474 |
T13471 |
punct |
-,GACCTCAAGAAGGCATGAATAC |
R4030 |
T13475 |
T13471 |
punct |
-,GACCTCAAGAAGGCATGAATAC |
R4031 |
T13476 |
T13471 |
nummod |
3,GACCTCAAGAAGGCATGAATAC |
R4032 |
T13477 |
T13471 |
punct |
′,GACCTCAAGAAGGCATGAATAC |
R4033 |
T13478 |
T13471 |
cc |
and,GACCTCAAGAAGGCATGAATAC |
R4034 |
T13479 |
T13480 |
nmod |
H27,3R |
R4035 |
T13480 |
T13482 |
nmod |
3R,ATGGTGGCCAGGTACACAAG |
R4036 |
T13481 |
T13480 |
punct |
-,3R |
R4037 |
T13482 |
T13471 |
conj |
ATGGTGGCCAGGTACACAAG,GACCTCAAGAAGGCATGAATAC |
R4038 |
T13483 |
T13482 |
nummod |
5,ATGGTGGCCAGGTACACAAG |
R4039 |
T13484 |
T13483 |
punct |
′,5 |
R4040 |
T13485 |
T13482 |
punct |
-,ATGGTGGCCAGGTACACAAG |
R4041 |
T13486 |
T13482 |
punct |
-,ATGGTGGCCAGGTACACAAG |
R4042 |
T13487 |
T13482 |
nummod |
3,ATGGTGGCCAGGTACACAAG |
R4043 |
T13488 |
T13482 |
punct |
′,ATGGTGGCCAGGTACACAAG |
R4044 |
T13489 |
T13490 |
punct |
(,S4 |
R4045 |
T13490 |
T13465 |
parataxis |
S4,using |
R4046 |
T13491 |
T13490 |
compound |
Figure,S4 |
R4047 |
T13492 |
T13490 |
punct |
),S4 |
R4048 |
T13493 |
T13433 |
punct |
", ",were |
R4049 |
T13494 |
T13433 |
cc |
but,were |
R4050 |
T13495 |
T13496 |
prep |
to,been |
R4051 |
T13496 |
T13433 |
conj |
been,were |
R4052 |
T13497 |
T13495 |
pobj |
date,to |
R4053 |
T13498 |
T13496 |
nsubj |
we,been |
R4054 |
T13499 |
T13496 |
aux |
have,been |
R4055 |
T13500 |
T13496 |
acomp |
unable,been |
R4056 |
T13501 |
T13502 |
aux |
to,identify |
R4057 |
T13502 |
T13500 |
xcomp |
identify,unable |
R4058 |
T13503 |
T13504 |
det |
the,breakpoint |
R4059 |
T13504 |
T13502 |
dobj |
breakpoint,identify |
R4060 |
T13505 |
T13504 |
prep |
in,breakpoint |
R4061 |
T13506 |
T13507 |
compound |
family,H33 |
R4062 |
T13507 |
T13505 |
pobj |
H33,in |
R4063 |
T13508 |
T13433 |
punct |
.,were |
R4064 |
T13807 |
T13808 |
compound |
Western,blot |
R4065 |
T13808 |
T13809 |
compound |
blot,analysis |
R4066 |
T13810 |
T13809 |
prep |
in,analysis |
R4067 |
T13811 |
T13812 |
compound |
SCA15,patients |
R4068 |
T13812 |
T13810 |
pobj |
patients,in |
R4069 |
T13813 |
T13809 |
punct |
.,analysis |
R4070 |
T13815 |
T13816 |
nmod |
EBV,lymphoblasts |
R4071 |
T13816 |
T13818 |
nsubjpass |
lymphoblasts,used |
R4072 |
T13817 |
T13816 |
amod |
immortalized,lymphoblasts |
R4073 |
T13818 |
T13836 |
ccomp |
used,came |
R4074 |
T13819 |
T13816 |
prep |
from,lymphoblasts |
R4075 |
T13820 |
T13821 |
nummod |
three,members |
R4076 |
T13821 |
T13819 |
pobj |
members,from |
R4077 |
T13822 |
T13821 |
amod |
affected,members |
R4078 |
T13823 |
T13821 |
compound |
family,members |
R4079 |
T13824 |
T13825 |
dep |
who,carry |
R4080 |
T13825 |
T13821 |
relcl |
carry,members |
R4081 |
T13826 |
T13827 |
det |
the,deletion |
R4082 |
T13827 |
T13825 |
dobj |
deletion,carry |
R4083 |
T13828 |
T13821 |
cc |
and,members |
R4084 |
T13829 |
T13830 |
nummod |
one,member |
R4085 |
T13830 |
T13821 |
conj |
member,members |
R4086 |
T13831 |
T13830 |
compound |
family,member |
R4087 |
T13832 |
T13830 |
prep |
without,member |
R4088 |
T13833 |
T13834 |
det |
the,mutation |
R4089 |
T13834 |
T13832 |
pobj |
mutation,without |
R4090 |
T13835 |
T13818 |
auxpass |
were,used |
R4091 |
T13837 |
T13818 |
prep |
as,used |
R4092 |
T13838 |
T13839 |
det |
a,source |
R4093 |
T13839 |
T13837 |
pobj |
source,as |
R4094 |
T13840 |
T13841 |
advmod |
readily,accessible |
R4095 |
T13841 |
T13839 |
amod |
accessible,source |
R4096 |
T13842 |
T13839 |
prep |
of,source |
R4097 |
T13843 |
T13842 |
pobj |
protein,of |
R4098 |
T13844 |
T13836 |
punct |
;,came |
R4099 |
T13845 |
T13846 |
det |
all,samples |
R4100 |
T13846 |
T13836 |
nsubj |
samples,came |
R4101 |
T13847 |
T13836 |
prep |
from,came |
R4102 |
T13848 |
T13847 |
pobj |
members,from |
R4103 |
T13849 |
T13848 |
prep |
of,members |
R4104 |
T13850 |
T13851 |
compound |
family,AUS1 |
R4105 |
T13851 |
T13849 |
pobj |
AUS1,of |
R4106 |
T13852 |
T13836 |
punct |
.,came |
R4107 |
T13854 |
T13855 |
compound |
Protein,extraction |
R4108 |
T13855 |
T13856 |
nsubjpass |
extraction,performed |
R4109 |
T13857 |
T13856 |
auxpass |
was,performed |
R4110 |
T13858 |
T13856 |
advcl |
using,performed |
R4111 |
T13859 |
T13860 |
compound |
lysis,buffer |
R4112 |
T13860 |
T13858 |
dobj |
buffer,using |
R4113 |
T13861 |
T13860 |
acl |
containing,buffer |
R4114 |
T13862 |
T13863 |
nummod |
1,TBS |
R4115 |
T13863 |
T13861 |
dobj |
TBS,containing |
R4116 |
T13864 |
T13862 |
punct |
×,1 |
R4117 |
T13865 |
T13863 |
punct |
", ",TBS |
R4118 |
T13866 |
T13867 |
nummod |
1,% |
R4119 |
T13867 |
T13868 |
compound |
%,X |
R4120 |
T13868 |
T13863 |
conj |
X,TBS |
R4121 |
T13869 |
T13868 |
compound |
Triton,X |
R4122 |
T13870 |
T13868 |
punct |
-,X |
R4123 |
T13871 |
T13868 |
nummod |
100,X |
R4124 |
T13872 |
T13868 |
punct |
", ",X |
R4125 |
T13873 |
T13868 |
cc |
and,X |
R4126 |
T13874 |
T13875 |
det |
a,cocktail |
R4127 |
T13875 |
T13868 |
conj |
cocktail,X |
R4128 |
T13876 |
T13875 |
prep |
of,cocktail |
R4129 |
T13877 |
T13878 |
compound |
protease,inhibitors |
R4130 |
T13878 |
T13876 |
pobj |
inhibitors,of |
R4131 |
T13879 |
T13880 |
punct |
(,Roche |
R4132 |
T13880 |
T13878 |
parataxis |
Roche,inhibitors |
R4133 |
T13881 |
T13880 |
punct |
),Roche |
R4134 |
T13882 |
T13856 |
prep |
with,performed |
R4135 |
T13883 |
T13884 |
amod |
overnight,lysis |
R4136 |
T13884 |
T13882 |
pobj |
lysis,with |
R4137 |
T13885 |
T13856 |
prep |
at,performed |
R4138 |
T13886 |
T13887 |
punct |
−,80 |
R4139 |
T13887 |
T13888 |
nummod |
80,°C |
R4140 |
T13888 |
T13885 |
pobj |
°C,at |
R4141 |
T13889 |
T13856 |
punct |
.,performed |
R4142 |
T13891 |
T13892 |
nsubjpass |
Homogenates,diluted |
R4143 |
T13893 |
T13892 |
auxpass |
were,diluted |
R4144 |
T13894 |
T13892 |
advmod |
appropriately,diluted |
R4145 |
T13895 |
T13892 |
punct |
", ",diluted |
R4146 |
T13896 |
T13892 |
conj |
mixed,diluted |
R4147 |
T13897 |
T13896 |
prep |
with,mixed |
R4148 |
T13898 |
T13899 |
nummod |
4,buffer |
R4149 |
T13899 |
T13897 |
pobj |
buffer,with |
R4150 |
T13900 |
T13898 |
punct |
×,4 |
R4151 |
T13901 |
T13899 |
amod |
reducing,buffer |
R4152 |
T13902 |
T13899 |
compound |
sample,buffer |
R4153 |
T13903 |
T13896 |
punct |
", ",mixed |
R4154 |
T13904 |
T13896 |
cc |
and,mixed |
R4155 |
T13905 |
T13896 |
conj |
loaded,mixed |
R4156 |
T13906 |
T13905 |
prep |
onto,loaded |
R4157 |
T13907 |
T13908 |
nummod |
4,% |
R4158 |
T13908 |
T13909 |
nmod |
%,gels |
R4159 |
T13909 |
T13906 |
pobj |
gels,onto |
R4160 |
T13910 |
T13911 |
punct |
–,% |
R4161 |
T13911 |
T13908 |
prep |
%,% |
R4162 |
T13912 |
T13911 |
nummod |
12,% |
R4163 |
T13913 |
T13909 |
amod |
precast,gels |
R4164 |
T13914 |
T13909 |
compound |
gradient,gels |
R4165 |
T13915 |
T13916 |
punct |
(,NuPAGE |
R4166 |
T13916 |
T13909 |
parataxis |
NuPAGE,gels |
R4167 |
T13917 |
T13916 |
punct |
", ",NuPAGE |
R4168 |
T13918 |
T13916 |
appos |
Invitrogen,NuPAGE |
R4169 |
T13919 |
T13916 |
punct |
),NuPAGE |
R4170 |
T13920 |
T13905 |
prep |
for,loaded |
R4171 |
T13921 |
T13922 |
compound |
SDS,PAGE |
R4172 |
T13922 |
T13920 |
pobj |
PAGE,for |
R4173 |
T13923 |
T13922 |
punct |
-,PAGE |
R4174 |
T13924 |
T13922 |
cc |
and,PAGE |
R4175 |
T13925 |
T13922 |
conj |
immunoblotting,PAGE |
R4176 |
T13926 |
T13892 |
punct |
.,diluted |
R4177 |
T13928 |
T13929 |
det |
The,antibodies |
R4178 |
T13929 |
T13930 |
nsubjpass |
antibodies,used |
R4179 |
T13931 |
T13929 |
prep |
to,antibodies |
R4180 |
T13932 |
T13931 |
pobj |
ITPR1,to |
R4181 |
T13933 |
T13934 |
punct |
(,1 |
R4182 |
T13934 |
T13932 |
parataxis |
1,ITPR1 |
R4183 |
T13935 |
T13936 |
punct |
:,"1,000" |
R4184 |
T13936 |
T13934 |
prep |
"1,000",1 |
R4185 |
T13937 |
T13934 |
punct |
),1 |
R4186 |
T13938 |
T13932 |
cc |
and,ITPR1 |
R4187 |
T13939 |
T13932 |
conj |
ACTB,ITPR1 |
R4188 |
T13940 |
T13941 |
punct |
(,1 |
R4189 |
T13941 |
T13939 |
parataxis |
1,ACTB |
R4190 |
T13942 |
T13943 |
punct |
:,"5,000" |
R4191 |
T13943 |
T13941 |
prep |
"5,000",1 |
R4192 |
T13944 |
T13941 |
punct |
),1 |
R4193 |
T13945 |
T13930 |
auxpass |
were,used |
R4194 |
T13946 |
T13947 |
mark |
as,recommended |
R4195 |
T13947 |
T13930 |
advcl |
recommended,used |
R4196 |
T13948 |
T13947 |
agent |
by,recommended |
R4197 |
T13949 |
T13948 |
pobj |
manufacturers,by |
R4198 |
T13950 |
T13930 |
punct |
.,used |