| Id |
Subject |
Object |
Predicate |
Lexical cue |
| T560 |
11-24 |
NN |
denotes |
Mucolipidosis |
| T561 |
25-29 |
NN |
denotes |
type |
| T562 |
52-54 |
VBZ |
denotes |
is |
| T563 |
30-32 |
CD |
denotes |
IV |
| T564 |
33-34 |
-LRB- |
denotes |
( |
| T565 |
34-38 |
NN |
denotes |
MLIV |
| T566 |
38-39 |
: |
denotes |
; |
| T567 |
40-43 |
NN |
denotes |
MIM |
| T568 |
44-50 |
CD |
denotes |
252650 |
| T569 |
50-51 |
-RRB- |
denotes |
) |
| T570 |
55-57 |
DT |
denotes |
an |
| T571 |
96-104 |
NN |
denotes |
disorder |
| T572 |
58-67 |
JJ |
denotes |
autosomal |
| T573 |
68-77 |
JJ |
denotes |
recessive |
| T574 |
78-87 |
JJ |
denotes |
lysosomal |
| T575 |
88-95 |
NN |
denotes |
storage |
| T576 |
105-109 |
WDT |
denotes |
that |
| T577 |
113-126 |
VBN |
denotes |
characterized |
| T578 |
110-112 |
VBZ |
denotes |
is |
| T579 |
127-129 |
IN |
denotes |
by |
| T580 |
130-137 |
JJ |
denotes |
corneal |
| T581 |
138-146 |
NN |
denotes |
clouding |
| T582 |
146-148 |
, |
denotes |
, |
| T583 |
148-155 |
JJ |
denotes |
delayed |
| T584 |
168-179 |
NN |
denotes |
development |
| T585 |
156-167 |
NN |
denotes |
psychomotor |
| T586 |
179-181 |
, |
denotes |
, |
| T587 |
181-184 |
CC |
denotes |
and |
| T588 |
185-191 |
JJ |
denotes |
mental |
| T589 |
192-203 |
NN |
denotes |
retardation |
| T590 |
204-208 |
WDT |
denotes |
that |
| T591 |
217-225 |
VBZ |
denotes |
presents |
| T592 |
209-216 |
RB |
denotes |
usually |
| T593 |
226-232 |
IN |
denotes |
during |
| T594 |
233-236 |
DT |
denotes |
the |
| T595 |
243-247 |
NN |
denotes |
year |
| T596 |
237-242 |
JJ |
denotes |
first |
| T597 |
248-250 |
IN |
denotes |
of |
| T598 |
251-255 |
NN |
denotes |
life |
| T599 |
256-257 |
-LRB- |
denotes |
[ |
| T600 |
257-258 |
CD |
denotes |
1 |
| T601 |
258-259 |
-RRB- |
denotes |
] |
| T602 |
259-260 |
. |
denotes |
. |
| T603 |
260-389 |
sentence |
denotes |
Another interesting clinical characteristic is that patients are constitutively achlorhydric with associated hypergastremia [2]. |
| T604 |
261-268 |
DT |
denotes |
Another |
| T605 |
290-304 |
NN |
denotes |
characteristic |
| T606 |
269-280 |
JJ |
denotes |
interesting |
| T607 |
281-289 |
JJ |
denotes |
clinical |
| T608 |
305-307 |
VBZ |
denotes |
is |
| T609 |
308-312 |
IN |
denotes |
that |
| T610 |
322-325 |
VBP |
denotes |
are |
| T611 |
313-321 |
NNS |
denotes |
patients |
| T612 |
326-340 |
RB |
denotes |
constitutively |
| T613 |
341-353 |
JJ |
denotes |
achlorhydric |
| T614 |
354-358 |
IN |
denotes |
with |
| T615 |
359-369 |
VBN |
denotes |
associated |
| T616 |
370-384 |
NN |
denotes |
hypergastremia |
| T617 |
385-386 |
-LRB- |
denotes |
[ |
| T618 |
386-387 |
CD |
denotes |
2 |
| T619 |
387-388 |
-RRB- |
denotes |
] |
| T620 |
388-389 |
. |
denotes |
. |
| T621 |
389-514 |
sentence |
denotes |
Patients with MLIV do not show mucopolysaccharide excretion, skeletal changes, or organomegaly like the other mucolipidoses. |
| T622 |
390-398 |
NNS |
denotes |
Patients |
| T623 |
416-420 |
VB |
denotes |
show |
| T624 |
399-403 |
IN |
denotes |
with |
| T625 |
404-408 |
NN |
denotes |
MLIV |
| T626 |
409-411 |
VBP |
denotes |
do |
| T627 |
412-415 |
RB |
denotes |
not |
| T628 |
421-439 |
NN |
denotes |
mucopolysaccharide |
| T629 |
440-449 |
NN |
denotes |
excretion |
| T630 |
449-451 |
, |
denotes |
, |
| T631 |
451-459 |
JJ |
denotes |
skeletal |
| T632 |
460-467 |
NNS |
denotes |
changes |
| T633 |
467-469 |
, |
denotes |
, |
| T634 |
469-471 |
CC |
denotes |
or |
| T635 |
472-484 |
RB |
denotes |
organomegaly |
| T636 |
485-489 |
IN |
denotes |
like |
| T637 |
490-493 |
DT |
denotes |
the |
| T638 |
500-513 |
NNS |
denotes |
mucolipidoses |
| T639 |
494-499 |
JJ |
denotes |
other |
| T640 |
513-514 |
. |
denotes |
. |
| T641 |
514-722 |
sentence |
denotes |
Abnormal lysosomal storage bodies and large vacuoles have been found in skin and conjuctival biopsies using electron-microscopy and, prior to gene identification, served as the only means of diagnosis [3-5]. |
| T642 |
515-523 |
JJ |
denotes |
Abnormal |
| T643 |
542-548 |
NNS |
denotes |
bodies |
| T644 |
524-533 |
JJ |
denotes |
lysosomal |
| T645 |
534-541 |
NN |
denotes |
storage |
| T646 |
578-583 |
VBN |
denotes |
found |
| T647 |
549-552 |
CC |
denotes |
and |
| T648 |
553-558 |
JJ |
denotes |
large |
| T649 |
559-567 |
NNS |
denotes |
vacuoles |
| T650 |
568-572 |
VBP |
denotes |
have |
| T651 |
573-577 |
VBN |
denotes |
been |
| T652 |
584-586 |
IN |
denotes |
in |
| T653 |
587-591 |
NN |
denotes |
skin |
| T654 |
608-616 |
NNS |
denotes |
biopsies |
| T655 |
592-595 |
CC |
denotes |
and |
| T656 |
596-607 |
JJ |
denotes |
conjuctival |
| T657 |
617-622 |
VBG |
denotes |
using |
| T658 |
623-631 |
NN |
denotes |
electron |
| T659 |
632-642 |
NN |
denotes |
microscopy |
| T660 |
631-632 |
HYPH |
denotes |
- |
| T661 |
643-646 |
CC |
denotes |
and |
| T662 |
646-648 |
, |
denotes |
, |
| T663 |
648-653 |
JJ |
denotes |
prior |
| T664 |
654-656 |
IN |
denotes |
to |
| T665 |
657-661 |
NN |
denotes |
gene |
| T666 |
662-676 |
NN |
denotes |
identification |
| T667 |
676-678 |
, |
denotes |
, |
| T668 |
678-684 |
VBD |
denotes |
served |
| T669 |
685-687 |
IN |
denotes |
as |
| T670 |
688-691 |
DT |
denotes |
the |
| T671 |
697-702 |
NN |
denotes |
means |
| T672 |
692-696 |
JJ |
denotes |
only |
| T673 |
703-705 |
IN |
denotes |
of |
| T674 |
706-715 |
NN |
denotes |
diagnosis |
| T675 |
716-717 |
-LRB- |
denotes |
[ |
| T676 |
717-718 |
CD |
denotes |
3 |
| T677 |
718-719 |
SYM |
denotes |
- |
| T678 |
719-720 |
CD |
denotes |
5 |
| T679 |
720-721 |
-RRB- |
denotes |
] |
| T680 |
721-722 |
. |
denotes |
. |
| T681 |
722-905 |
sentence |
denotes |
A recent report estimates that the carrier frequency of MLIV in the Ashkenazi Jewish population is 1 in 100, and mutations have been reported in Jewish and non-Jewish families [6-9]. |
| T682 |
723-724 |
DT |
denotes |
A |
| T683 |
732-738 |
NN |
denotes |
report |
| T684 |
725-731 |
JJ |
denotes |
recent |
| T685 |
739-748 |
VBZ |
denotes |
estimates |
| T686 |
749-753 |
IN |
denotes |
that |
| T687 |
819-821 |
VBZ |
denotes |
is |
| T688 |
754-757 |
DT |
denotes |
the |
| T689 |
766-775 |
NN |
denotes |
frequency |
| T690 |
758-765 |
NN |
denotes |
carrier |
| T691 |
776-778 |
IN |
denotes |
of |
| T692 |
779-783 |
NN |
denotes |
MLIV |
| T693 |
784-786 |
IN |
denotes |
in |
| T694 |
787-790 |
DT |
denotes |
the |
| T695 |
808-818 |
NN |
denotes |
population |
| T696 |
791-800 |
NNP |
denotes |
Ashkenazi |
| T697 |
801-807 |
JJ |
denotes |
Jewish |
| T698 |
822-823 |
CD |
denotes |
1 |
| T699 |
824-826 |
IN |
denotes |
in |
| T700 |
827-830 |
CD |
denotes |
100 |
| T701 |
830-832 |
, |
denotes |
, |
| T702 |
832-835 |
CC |
denotes |
and |
| T703 |
836-845 |
NNS |
denotes |
mutations |
| T704 |
856-864 |
VBN |
denotes |
reported |
| T705 |
846-850 |
VBP |
denotes |
have |
| T706 |
851-855 |
VBN |
denotes |
been |
| T707 |
865-867 |
IN |
denotes |
in |
| T708 |
868-874 |
JJ |
denotes |
Jewish |
| T709 |
890-898 |
NNS |
denotes |
families |
| T710 |
875-878 |
CC |
denotes |
and |
| T711 |
879-889 |
JJ |
denotes |
non-Jewish |
| T712 |
899-900 |
-LRB- |
denotes |
[ |
| T713 |
900-901 |
CD |
denotes |
6 |
| T714 |
901-902 |
SYM |
denotes |
- |
| T715 |
902-903 |
CD |
denotes |
9 |
| T716 |
903-904 |
-RRB- |
denotes |
] |
| T717 |
904-905 |
. |
denotes |
. |
| T718 |
905-1106 |
sentence |
denotes |
The human gene MCOLN1 (GenBank #AF287270) maps to chromosome 19p13.2-13.3 and encodes a novel protein that is a member of the transient receptor potential (TRP) cation channel gene superfamily [7-10]. |
| T719 |
906-909 |
DT |
denotes |
The |
| T720 |
916-920 |
NN |
denotes |
gene |
| T721 |
910-915 |
JJ |
denotes |
human |
| T722 |
948-952 |
VBZ |
denotes |
maps |
| T723 |
921-927 |
NN |
denotes |
MCOLN1 |
| T724 |
928-929 |
-LRB- |
denotes |
( |
| T725 |
938-946 |
NN |
denotes |
AF287270 |
| T726 |
929-936 |
NNP |
denotes |
GenBank |
| T727 |
937-938 |
NN |
denotes |
# |
| T728 |
946-947 |
-RRB- |
denotes |
) |
| T729 |
953-955 |
IN |
denotes |
to |
| T730 |
956-966 |
NN |
denotes |
chromosome |
| T731 |
967-974 |
CD |
denotes |
19p13.2 |
| T732 |
974-975 |
SYM |
denotes |
- |
| T733 |
975-979 |
CD |
denotes |
13.3 |
| T734 |
980-983 |
CC |
denotes |
and |
| T735 |
984-991 |
VBZ |
denotes |
encodes |
| T736 |
992-993 |
DT |
denotes |
a |
| T737 |
1000-1007 |
NN |
denotes |
protein |
| T738 |
994-999 |
JJ |
denotes |
novel |
| T739 |
1008-1012 |
WDT |
denotes |
that |
| T740 |
1013-1015 |
VBZ |
denotes |
is |
| T741 |
1016-1017 |
DT |
denotes |
a |
| T742 |
1018-1024 |
NN |
denotes |
member |
| T743 |
1025-1027 |
IN |
denotes |
of |
| T744 |
1028-1031 |
DT |
denotes |
the |
| T745 |
1087-1098 |
NN |
denotes |
superfamily |
| T746 |
1032-1041 |
JJ |
denotes |
transient |
| T747 |
1051-1060 |
NN |
denotes |
potential |
| T748 |
1042-1050 |
NN |
denotes |
receptor |
| T749 |
1061-1062 |
-LRB- |
denotes |
( |
| T750 |
1062-1065 |
NN |
denotes |
TRP |
| T751 |
1065-1066 |
-RRB- |
denotes |
) |
| T752 |
1067-1073 |
NN |
denotes |
cation |
| T753 |
1074-1081 |
NN |
denotes |
channel |
| T754 |
1082-1086 |
NN |
denotes |
gene |
| T755 |
1099-1100 |
-LRB- |
denotes |
[ |
| T756 |
1100-1101 |
CD |
denotes |
7 |
| T757 |
1101-1102 |
SYM |
denotes |
- |
| T758 |
1102-1104 |
CD |
denotes |
10 |
| T759 |
1104-1105 |
-RRB- |
denotes |
] |
| T760 |
1105-1106 |
. |
denotes |
. |
| T761 |
1106-1315 |
sentence |
denotes |
Protein trafficking studies suggest that MLIV is the result of a defect in the late endocytic pathway, contrary to the other mucolipidoses which are typically caused by defective lysosomal hydrolases [11,12]. |
| T762 |
1107-1114 |
NN |
denotes |
Protein |
| T763 |
1115-1126 |
NN |
denotes |
trafficking |
| T764 |
1127-1134 |
NNS |
denotes |
studies |
| T765 |
1135-1142 |
VBP |
denotes |
suggest |
| T766 |
1143-1147 |
IN |
denotes |
that |
| T767 |
1153-1155 |
VBZ |
denotes |
is |
| T768 |
1148-1152 |
NN |
denotes |
MLIV |
| T769 |
1156-1159 |
DT |
denotes |
the |
| T770 |
1160-1166 |
NN |
denotes |
result |
| T771 |
1167-1169 |
IN |
denotes |
of |
| T772 |
1170-1171 |
DT |
denotes |
a |
| T773 |
1172-1178 |
NN |
denotes |
defect |
| T774 |
1179-1181 |
IN |
denotes |
in |
| T775 |
1182-1185 |
DT |
denotes |
the |
| T776 |
1201-1208 |
NN |
denotes |
pathway |
| T777 |
1186-1190 |
JJ |
denotes |
late |
| T778 |
1191-1200 |
JJ |
denotes |
endocytic |
| T779 |
1208-1210 |
, |
denotes |
, |
| T780 |
1210-1218 |
JJ |
denotes |
contrary |
| T781 |
1219-1221 |
IN |
denotes |
to |
| T782 |
1222-1225 |
DT |
denotes |
the |
| T783 |
1232-1245 |
NNS |
denotes |
mucolipidoses |
| T784 |
1226-1231 |
JJ |
denotes |
other |
| T785 |
1246-1251 |
WDT |
denotes |
which |
| T786 |
1266-1272 |
VBN |
denotes |
caused |
| T787 |
1252-1255 |
VBP |
denotes |
are |
| T788 |
1256-1265 |
RB |
denotes |
typically |
| T789 |
1273-1275 |
IN |
denotes |
by |
| T790 |
1276-1285 |
JJ |
denotes |
defective |
| T791 |
1296-1306 |
NNS |
denotes |
hydrolases |
| T792 |
1286-1295 |
JJ |
denotes |
lysosomal |
| T793 |
1307-1308 |
-LRB- |
denotes |
[ |
| T794 |
1311-1313 |
CD |
denotes |
12 |
| T795 |
1308-1310 |
CD |
denotes |
11 |
| T796 |
1310-1311 |
, |
denotes |
, |
| T797 |
1313-1314 |
-RRB- |
denotes |
] |
| T798 |
1314-1315 |
. |
denotes |
. |
| T799 |
1315-1379 |
sentence |
denotes |
Recent work in Caenorhabditis elegans supports this hypothesis. |
| T800 |
1316-1322 |
JJ |
denotes |
Recent |
| T801 |
1323-1327 |
NN |
denotes |
work |
| T802 |
1354-1362 |
VBZ |
denotes |
supports |
| T803 |
1328-1330 |
IN |
denotes |
in |
| T804 |
1331-1345 |
NNP |
denotes |
Caenorhabditis |
| T805 |
1346-1353 |
NNP |
denotes |
elegans |
| T806 |
1363-1367 |
DT |
denotes |
this |
| T807 |
1368-1378 |
NN |
denotes |
hypothesis |
| T808 |
1378-1379 |
. |
denotes |
. |
| T809 |
1379-1642 |
sentence |
denotes |
Loss of function mutants of the MCOLN1 C. elegans homologue, cup-5, result in an increased rate of endocytosis, accumulation of large vacuoles, and a decreased rate of endocytosed protein breakdown; while over-expression of this gene reverses the phenotype [13]. |
| T810 |
1380-1384 |
NN |
denotes |
Loss |
| T811 |
1397-1404 |
NNS |
denotes |
mutants |
| T812 |
1385-1387 |
IN |
denotes |
of |
| T813 |
1388-1396 |
NN |
denotes |
function |
| T814 |
1448-1454 |
VBP |
denotes |
result |
| T815 |
1405-1407 |
IN |
denotes |
of |
| T816 |
1408-1411 |
DT |
denotes |
the |
| T817 |
1430-1439 |
NN |
denotes |
homologue |
| T818 |
1412-1418 |
NN |
denotes |
MCOLN1 |
| T819 |
1422-1429 |
NNP |
denotes |
elegans |
| T820 |
1419-1421 |
NNP |
denotes |
C. |
| T821 |
1439-1441 |
, |
denotes |
, |
| T822 |
1441-1444 |
NN |
denotes |
cup |
| T823 |
1444-1445 |
HYPH |
denotes |
- |
| T824 |
1445-1446 |
CD |
denotes |
5 |
| T825 |
1446-1448 |
, |
denotes |
, |
| T826 |
1455-1457 |
IN |
denotes |
in |
| T827 |
1458-1460 |
DT |
denotes |
an |
| T828 |
1471-1475 |
NN |
denotes |
rate |
| T829 |
1461-1470 |
VBN |
denotes |
increased |
| T830 |
1476-1478 |
IN |
denotes |
of |
| T831 |
1479-1490 |
NN |
denotes |
endocytosis |
| T832 |
1490-1492 |
, |
denotes |
, |
| T833 |
1492-1504 |
NN |
denotes |
accumulation |
| T834 |
1505-1507 |
IN |
denotes |
of |
| T835 |
1508-1513 |
JJ |
denotes |
large |
| T836 |
1514-1522 |
NNS |
denotes |
vacuoles |
| T837 |
1522-1524 |
, |
denotes |
, |
| T838 |
1524-1527 |
CC |
denotes |
and |
| T839 |
1528-1529 |
DT |
denotes |
a |
| T840 |
1540-1544 |
NN |
denotes |
rate |
| T841 |
1530-1539 |
VBN |
denotes |
decreased |
| T842 |
1545-1547 |
IN |
denotes |
of |
| T843 |
1548-1559 |
VBN |
denotes |
endocytosed |
| T844 |
1560-1567 |
NN |
denotes |
protein |
| T845 |
1568-1577 |
NN |
denotes |
breakdown |
| T846 |
1577-1578 |
: |
denotes |
; |
| T847 |
1579-1584 |
IN |
denotes |
while |
| T848 |
1614-1622 |
VBZ |
denotes |
reverses |
| T849 |
1585-1600 |
NN |
denotes |
over-expression |
| T850 |
1601-1603 |
IN |
denotes |
of |
| T851 |
1604-1608 |
DT |
denotes |
this |
| T852 |
1609-1613 |
NN |
denotes |
gene |
| T853 |
1623-1626 |
DT |
denotes |
the |
| T854 |
1627-1636 |
NN |
denotes |
phenotype |
| T855 |
1637-1638 |
-LRB- |
denotes |
[ |
| T856 |
1638-1640 |
CD |
denotes |
13 |
| T857 |
1640-1641 |
-RRB- |
denotes |
] |
| T858 |
1641-1642 |
. |
denotes |
. |
| T859 |
1642-1791 |
sentence |
denotes |
Cloning and characterization of the mouse homologue of MCOLN1 is crucial for the development of mouse models of MLIV to further study this disorder. |
| T860 |
1643-1650 |
NN |
denotes |
Cloning |
| T861 |
1705-1707 |
VBZ |
denotes |
is |
| T862 |
1651-1654 |
CC |
denotes |
and |
| T863 |
1655-1671 |
NN |
denotes |
characterization |
| T864 |
1672-1674 |
IN |
denotes |
of |
| T865 |
1675-1678 |
DT |
denotes |
the |
| T866 |
1685-1694 |
NN |
denotes |
homologue |
| T867 |
1679-1684 |
NN |
denotes |
mouse |
| T868 |
1695-1697 |
IN |
denotes |
of |
| T869 |
1698-1704 |
NN |
denotes |
MCOLN1 |
| T870 |
1708-1715 |
JJ |
denotes |
crucial |
| T871 |
1716-1719 |
IN |
denotes |
for |
| T872 |
1720-1723 |
DT |
denotes |
the |
| T873 |
1724-1735 |
NN |
denotes |
development |
| T874 |
1736-1738 |
IN |
denotes |
of |
| T875 |
1739-1744 |
NN |
denotes |
mouse |
| T876 |
1745-1751 |
NNS |
denotes |
models |
| T877 |
1752-1754 |
IN |
denotes |
of |
| T878 |
1755-1759 |
NN |
denotes |
MLIV |
| T879 |
1760-1762 |
TO |
denotes |
to |
| T880 |
1771-1776 |
VB |
denotes |
study |
| T881 |
1763-1770 |
RB |
denotes |
further |
| T882 |
1777-1781 |
DT |
denotes |
this |
| T883 |
1782-1790 |
NN |
denotes |
disorder |
| T884 |
1790-1791 |
. |
denotes |
. |
| R270 |
T560 |
T561 |
compound |
Mucolipidosis,type |
| R271 |
T561 |
T562 |
nsubj |
type,is |
| R272 |
T563 |
T561 |
nummod |
IV,type |
| R273 |
T564 |
T561 |
punct |
(,type |
| R274 |
T565 |
T561 |
appos |
MLIV,type |
| R275 |
T566 |
T567 |
punct |
;,MIM |
| R276 |
T567 |
T561 |
parataxis |
MIM,type |
| R277 |
T568 |
T567 |
nummod |
252650,MIM |
| R278 |
T569 |
T567 |
punct |
),MIM |
| R279 |
T570 |
T571 |
det |
an,disorder |
| R280 |
T571 |
T562 |
attr |
disorder,is |
| R281 |
T572 |
T571 |
amod |
autosomal,disorder |
| R282 |
T573 |
T571 |
amod |
recessive,disorder |
| R283 |
T574 |
T571 |
amod |
lysosomal,disorder |
| R284 |
T575 |
T571 |
compound |
storage,disorder |
| R285 |
T576 |
T577 |
dep |
that,characterized |
| R286 |
T577 |
T571 |
relcl |
characterized,disorder |
| R287 |
T578 |
T577 |
auxpass |
is,characterized |
| R288 |
T579 |
T577 |
agent |
by,characterized |
| R289 |
T580 |
T581 |
amod |
corneal,clouding |
| R290 |
T581 |
T579 |
pobj |
clouding,by |
| R291 |
T582 |
T581 |
punct |
", ",clouding |
| R292 |
T583 |
T584 |
amod |
delayed,development |
| R293 |
T584 |
T581 |
conj |
development,clouding |
| R294 |
T585 |
T584 |
compound |
psychomotor,development |
| R295 |
T586 |
T584 |
punct |
", ",development |
| R296 |
T587 |
T584 |
cc |
and,development |
| R297 |
T588 |
T589 |
amod |
mental,retardation |
| R298 |
T589 |
T584 |
conj |
retardation,development |
| R299 |
T590 |
T591 |
dep |
that,presents |
| R300 |
T591 |
T589 |
relcl |
presents,retardation |
| R301 |
T592 |
T591 |
advmod |
usually,presents |
| R302 |
T593 |
T591 |
prep |
during,presents |
| R303 |
T594 |
T595 |
det |
the,year |
| R304 |
T595 |
T593 |
pobj |
year,during |
| R305 |
T596 |
T595 |
amod |
first,year |
| R306 |
T597 |
T595 |
prep |
of,year |
| R307 |
T598 |
T597 |
pobj |
life,of |
| R308 |
T599 |
T600 |
punct |
[,1 |
| R309 |
T600 |
T562 |
parataxis |
1,is |
| R310 |
T601 |
T600 |
punct |
],1 |
| R311 |
T602 |
T562 |
punct |
.,is |
| R312 |
T604 |
T605 |
det |
Another,characteristic |
| R313 |
T605 |
T608 |
nsubj |
characteristic,is |
| R314 |
T606 |
T605 |
amod |
interesting,characteristic |
| R315 |
T607 |
T605 |
amod |
clinical,characteristic |
| R316 |
T609 |
T610 |
mark |
that,are |
| R317 |
T610 |
T608 |
ccomp |
are,is |
| R318 |
T611 |
T610 |
nsubj |
patients,are |
| R319 |
T612 |
T613 |
advmod |
constitutively,achlorhydric |
| R320 |
T613 |
T610 |
acomp |
achlorhydric,are |
| R321 |
T614 |
T613 |
prep |
with,achlorhydric |
| R322 |
T615 |
T616 |
amod |
associated,hypergastremia |
| R323 |
T616 |
T614 |
pobj |
hypergastremia,with |
| R324 |
T617 |
T618 |
punct |
[,2 |
| R325 |
T618 |
T608 |
parataxis |
2,is |
| R326 |
T619 |
T618 |
punct |
],2 |
| R327 |
T620 |
T608 |
punct |
.,is |
| R328 |
T622 |
T623 |
nsubj |
Patients,show |
| R329 |
T624 |
T622 |
prep |
with,Patients |
| R330 |
T625 |
T624 |
pobj |
MLIV,with |
| R331 |
T626 |
T623 |
aux |
do,show |
| R332 |
T627 |
T623 |
neg |
not,show |
| R333 |
T628 |
T629 |
compound |
mucopolysaccharide,excretion |
| R334 |
T629 |
T623 |
dobj |
excretion,show |
| R335 |
T630 |
T629 |
punct |
", ",excretion |
| R336 |
T631 |
T632 |
amod |
skeletal,changes |
| R337 |
T632 |
T629 |
conj |
changes,excretion |
| R338 |
T633 |
T632 |
punct |
", ",changes |
| R339 |
T634 |
T632 |
cc |
or,changes |
| R340 |
T635 |
T632 |
conj |
organomegaly,changes |
| R341 |
T636 |
T623 |
prep |
like,show |
| R342 |
T637 |
T638 |
det |
the,mucolipidoses |
| R343 |
T638 |
T636 |
pobj |
mucolipidoses,like |
| R344 |
T639 |
T638 |
amod |
other,mucolipidoses |
| R345 |
T640 |
T623 |
punct |
.,show |
| R346 |
T642 |
T643 |
amod |
Abnormal,bodies |
| R347 |
T643 |
T646 |
nsubjpass |
bodies,found |
| R348 |
T644 |
T643 |
amod |
lysosomal,bodies |
| R349 |
T645 |
T643 |
compound |
storage,bodies |
| R350 |
T647 |
T643 |
cc |
and,bodies |
| R351 |
T648 |
T649 |
amod |
large,vacuoles |
| R352 |
T649 |
T643 |
conj |
vacuoles,bodies |
| R353 |
T650 |
T646 |
aux |
have,found |
| R354 |
T651 |
T646 |
auxpass |
been,found |
| R355 |
T652 |
T646 |
prep |
in,found |
| R356 |
T653 |
T654 |
nmod |
skin,biopsies |
| R357 |
T654 |
T652 |
pobj |
biopsies,in |
| R358 |
T655 |
T653 |
cc |
and,skin |
| R359 |
T656 |
T653 |
conj |
conjuctival,skin |
| R360 |
T657 |
T646 |
advcl |
using,found |
| R361 |
T658 |
T659 |
compound |
electron,microscopy |
| R362 |
T659 |
T657 |
dobj |
microscopy,using |
| R363 |
T660 |
T659 |
punct |
-,microscopy |
| R364 |
T661 |
T646 |
cc |
and,found |
| R365 |
T662 |
T646 |
punct |
", ",found |
| R366 |
T663 |
T664 |
amod |
prior,to |
| R367 |
T664 |
T646 |
prep |
to,found |
| R368 |
T665 |
T666 |
compound |
gene,identification |
| R369 |
T666 |
T664 |
pobj |
identification,to |
| R370 |
T667 |
T646 |
punct |
", ",found |
| R371 |
T668 |
T646 |
conj |
served,found |
| R372 |
T669 |
T668 |
prep |
as,served |
| R373 |
T670 |
T671 |
det |
the,means |
| R374 |
T671 |
T669 |
pobj |
means,as |
| R375 |
T672 |
T671 |
amod |
only,means |
| R376 |
T673 |
T671 |
prep |
of,means |
| R377 |
T674 |
T673 |
pobj |
diagnosis,of |
| R378 |
T675 |
T676 |
punct |
[,3 |
| R379 |
T676 |
T668 |
parataxis |
3,served |
| R380 |
T677 |
T678 |
punct |
-,5 |
| R381 |
T678 |
T676 |
prep |
5,3 |
| R382 |
T679 |
T676 |
punct |
],3 |
| R383 |
T680 |
T646 |
punct |
.,found |
| R384 |
T682 |
T683 |
det |
A,report |
| R385 |
T683 |
T685 |
nsubj |
report,estimates |
| R386 |
T684 |
T683 |
amod |
recent,report |
| R387 |
T686 |
T687 |
mark |
that,is |
| R388 |
T687 |
T685 |
ccomp |
is,estimates |
| R389 |
T688 |
T689 |
det |
the,frequency |
| R390 |
T689 |
T687 |
nsubj |
frequency,is |
| R391 |
T690 |
T689 |
compound |
carrier,frequency |
| R392 |
T691 |
T689 |
prep |
of,frequency |
| R393 |
T692 |
T691 |
pobj |
MLIV,of |
| R394 |
T693 |
T689 |
prep |
in,frequency |
| R395 |
T694 |
T695 |
det |
the,population |
| R396 |
T695 |
T693 |
pobj |
population,in |
| R397 |
T696 |
T697 |
npadvmod |
Ashkenazi,Jewish |
| R398 |
T697 |
T695 |
amod |
Jewish,population |
| R399 |
T698 |
T687 |
attr |
1,is |
| R400 |
T699 |
T698 |
prep |
in,1 |
| R401 |
T700 |
T699 |
pobj |
100,in |
| R402 |
T701 |
T685 |
punct |
", ",estimates |
| R403 |
T702 |
T685 |
cc |
and,estimates |
| R404 |
T703 |
T704 |
nsubjpass |
mutations,reported |
| R405 |
T704 |
T685 |
conj |
reported,estimates |
| R406 |
T705 |
T704 |
aux |
have,reported |
| R407 |
T706 |
T704 |
auxpass |
been,reported |
| R408 |
T707 |
T704 |
prep |
in,reported |
| R409 |
T708 |
T709 |
amod |
Jewish,families |
| R410 |
T709 |
T707 |
pobj |
families,in |
| R411 |
T710 |
T708 |
cc |
and,Jewish |
| R412 |
T711 |
T708 |
conj |
non-Jewish,Jewish |
| R413 |
T712 |
T713 |
punct |
[,6 |
| R414 |
T713 |
T704 |
parataxis |
6,reported |
| R415 |
T714 |
T715 |
punct |
-,9 |
| R416 |
T715 |
T713 |
prep |
9,6 |
| R417 |
T716 |
T713 |
punct |
],6 |
| R418 |
T717 |
T704 |
punct |
.,reported |
| R419 |
T719 |
T720 |
det |
The,gene |
| R420 |
T720 |
T722 |
nsubj |
gene,maps |
| R421 |
T721 |
T720 |
amod |
human,gene |
| R422 |
T723 |
T720 |
appos |
MCOLN1,gene |
| R423 |
T724 |
T725 |
punct |
(,AF287270 |
| R424 |
T725 |
T720 |
parataxis |
AF287270,gene |
| R425 |
T726 |
T725 |
compound |
GenBank,AF287270 |
| R426 |
T727 |
T725 |
compound |
#,AF287270 |
| R427 |
T728 |
T725 |
punct |
),AF287270 |
| R428 |
T729 |
T722 |
prep |
to,maps |
| R429 |
T730 |
T729 |
pobj |
chromosome,to |
| R430 |
T731 |
T730 |
nummod |
19p13.2,chromosome |
| R431 |
T732 |
T733 |
punct |
-,13.3 |
| R432 |
T733 |
T730 |
prep |
13.3,chromosome |
| R433 |
T734 |
T722 |
cc |
and,maps |
| R434 |
T735 |
T722 |
conj |
encodes,maps |
| R435 |
T736 |
T737 |
det |
a,protein |
| R436 |
T737 |
T735 |
dobj |
protein,encodes |
| R437 |
T738 |
T737 |
amod |
novel,protein |
| R438 |
T739 |
T740 |
dep |
that,is |
| R439 |
T740 |
T737 |
relcl |
is,protein |
| R440 |
T741 |
T742 |
det |
a,member |
| R441 |
T742 |
T740 |
attr |
member,is |
| R442 |
T743 |
T742 |
prep |
of,member |
| R443 |
T744 |
T745 |
det |
the,superfamily |
| R444 |
T745 |
T743 |
pobj |
superfamily,of |
| R445 |
T746 |
T747 |
amod |
transient,potential |
| R446 |
T747 |
T745 |
nmod |
potential,superfamily |
| R447 |
T748 |
T747 |
nmod |
receptor,potential |
| R448 |
T749 |
T747 |
punct |
(,potential |
| R449 |
T750 |
T747 |
appos |
TRP,potential |
| R450 |
T751 |
T745 |
punct |
),superfamily |
| R451 |
T752 |
T753 |
compound |
cation,channel |
| R452 |
T753 |
T745 |
compound |
channel,superfamily |
| R453 |
T754 |
T745 |
compound |
gene,superfamily |
| R454 |
T755 |
T756 |
punct |
[,7 |
| R455 |
T756 |
T735 |
parataxis |
7,encodes |
| R456 |
T757 |
T758 |
punct |
-,10 |
| R457 |
T758 |
T756 |
prep |
10,7 |
| R458 |
T759 |
T756 |
punct |
],7 |
| R459 |
T760 |
T722 |
punct |
.,maps |
| R460 |
T762 |
T763 |
compound |
Protein,trafficking |
| R461 |
T763 |
T764 |
compound |
trafficking,studies |
| R462 |
T764 |
T765 |
nsubj |
studies,suggest |
| R463 |
T766 |
T767 |
mark |
that,is |
| R464 |
T767 |
T765 |
ccomp |
is,suggest |
| R465 |
T768 |
T767 |
nsubj |
MLIV,is |
| R466 |
T769 |
T770 |
det |
the,result |
| R467 |
T770 |
T767 |
attr |
result,is |
| R468 |
T771 |
T770 |
prep |
of,result |
| R469 |
T772 |
T773 |
det |
a,defect |
| R470 |
T773 |
T771 |
pobj |
defect,of |
| R471 |
T774 |
T773 |
prep |
in,defect |
| R472 |
T775 |
T776 |
det |
the,pathway |
| R473 |
T776 |
T774 |
pobj |
pathway,in |
| R474 |
T777 |
T776 |
amod |
late,pathway |
| R475 |
T778 |
T776 |
amod |
endocytic,pathway |
| R476 |
T779 |
T765 |
punct |
", ",suggest |
| R477 |
T780 |
T765 |
advcl |
contrary,suggest |
| R478 |
T781 |
T780 |
prep |
to,contrary |
| R479 |
T782 |
T783 |
det |
the,mucolipidoses |
| R480 |
T783 |
T781 |
pobj |
mucolipidoses,to |
| R481 |
T784 |
T783 |
amod |
other,mucolipidoses |
| R482 |
T785 |
T786 |
dep |
which,caused |
| R483 |
T786 |
T783 |
relcl |
caused,mucolipidoses |
| R484 |
T787 |
T786 |
auxpass |
are,caused |
| R485 |
T788 |
T786 |
advmod |
typically,caused |
| R486 |
T789 |
T786 |
agent |
by,caused |
| R487 |
T790 |
T791 |
amod |
defective,hydrolases |
| R488 |
T791 |
T789 |
pobj |
hydrolases,by |
| R489 |
T792 |
T791 |
amod |
lysosomal,hydrolases |
| R490 |
T793 |
T794 |
punct |
[,12 |
| R491 |
T794 |
T765 |
parataxis |
12,suggest |
| R492 |
T795 |
T794 |
nummod |
11,12 |
| R493 |
T796 |
T794 |
punct |
",",12 |
| R494 |
T797 |
T794 |
punct |
],12 |
| R495 |
T798 |
T765 |
punct |
.,suggest |
| R496 |
T800 |
T801 |
amod |
Recent,work |
| R497 |
T801 |
T802 |
nsubj |
work,supports |
| R498 |
T803 |
T801 |
prep |
in,work |
| R499 |
T804 |
T805 |
compound |
Caenorhabditis,elegans |
| R500 |
T805 |
T803 |
pobj |
elegans,in |
| R501 |
T806 |
T807 |
det |
this,hypothesis |
| R502 |
T807 |
T802 |
dobj |
hypothesis,supports |
| R503 |
T808 |
T802 |
punct |
.,supports |
| R504 |
T810 |
T811 |
nmod |
Loss,mutants |
| R505 |
T811 |
T814 |
nsubj |
mutants,result |
| R506 |
T812 |
T810 |
prep |
of,Loss |
| R507 |
T813 |
T812 |
pobj |
function,of |
| R508 |
T815 |
T811 |
prep |
of,mutants |
| R509 |
T816 |
T817 |
det |
the,homologue |
| R510 |
T817 |
T815 |
pobj |
homologue,of |
| R511 |
T818 |
T819 |
compound |
MCOLN1,elegans |
| R512 |
T819 |
T817 |
compound |
elegans,homologue |
| R513 |
T820 |
T819 |
compound |
C.,elegans |
| R514 |
T821 |
T817 |
punct |
", ",homologue |
| R515 |
T822 |
T817 |
appos |
cup,homologue |
| R516 |
T823 |
T822 |
punct |
-,cup |
| R517 |
T824 |
T822 |
nummod |
5,cup |
| R518 |
T825 |
T814 |
punct |
", ",result |
| R519 |
T826 |
T814 |
prep |
in,result |
| R520 |
T827 |
T828 |
det |
an,rate |
| R521 |
T828 |
T826 |
pobj |
rate,in |
| R522 |
T829 |
T828 |
amod |
increased,rate |
| R523 |
T830 |
T828 |
prep |
of,rate |
| R524 |
T831 |
T830 |
pobj |
endocytosis,of |
| R525 |
T832 |
T828 |
punct |
", ",rate |
| R526 |
T833 |
T828 |
conj |
accumulation,rate |
| R527 |
T834 |
T833 |
prep |
of,accumulation |
| R528 |
T835 |
T836 |
amod |
large,vacuoles |
| R529 |
T836 |
T834 |
pobj |
vacuoles,of |
| R530 |
T837 |
T833 |
punct |
", ",accumulation |
| R531 |
T838 |
T833 |
cc |
and,accumulation |
| R532 |
T839 |
T840 |
det |
a,rate |
| R533 |
T840 |
T833 |
conj |
rate,accumulation |
| R534 |
T841 |
T840 |
amod |
decreased,rate |
| R535 |
T842 |
T840 |
prep |
of,rate |
| R536 |
T843 |
T844 |
amod |
endocytosed,protein |
| R537 |
T844 |
T845 |
compound |
protein,breakdown |
| R538 |
T845 |
T842 |
pobj |
breakdown,of |
| R539 |
T846 |
T814 |
punct |
;,result |
| R540 |
T847 |
T848 |
mark |
while,reverses |
| R541 |
T848 |
T814 |
advcl |
reverses,result |
| R542 |
T849 |
T848 |
nsubj |
over-expression,reverses |
| R543 |
T850 |
T849 |
prep |
of,over-expression |
| R544 |
T851 |
T852 |
det |
this,gene |
| R545 |
T852 |
T850 |
pobj |
gene,of |
| R546 |
T853 |
T854 |
det |
the,phenotype |
| R547 |
T854 |
T848 |
dobj |
phenotype,reverses |
| R548 |
T855 |
T856 |
punct |
[,13 |
| R549 |
T856 |
T814 |
parataxis |
13,result |
| R550 |
T857 |
T856 |
punct |
],13 |
| R551 |
T858 |
T814 |
punct |
.,result |
| R552 |
T860 |
T861 |
nsubj |
Cloning,is |
| R553 |
T862 |
T860 |
cc |
and,Cloning |
| R554 |
T863 |
T860 |
conj |
characterization,Cloning |
| R555 |
T864 |
T860 |
prep |
of,Cloning |
| R556 |
T865 |
T866 |
det |
the,homologue |
| R557 |
T866 |
T864 |
pobj |
homologue,of |
| R558 |
T867 |
T866 |
compound |
mouse,homologue |
| R559 |
T868 |
T866 |
prep |
of,homologue |
| R560 |
T869 |
T868 |
pobj |
MCOLN1,of |
| R561 |
T870 |
T861 |
acomp |
crucial,is |
| R562 |
T871 |
T861 |
prep |
for,is |
| R563 |
T872 |
T873 |
det |
the,development |
| R564 |
T873 |
T871 |
pobj |
development,for |
| R565 |
T874 |
T873 |
prep |
of,development |
| R566 |
T875 |
T876 |
compound |
mouse,models |
| R567 |
T876 |
T874 |
pobj |
models,of |
| R568 |
T877 |
T876 |
prep |
of,models |
| R569 |
T878 |
T877 |
pobj |
MLIV,of |
| R570 |
T879 |
T880 |
aux |
to,study |
| R571 |
T880 |
T861 |
advcl |
study,is |
| R572 |
T881 |
T880 |
advmod |
further,study |
| R573 |
T882 |
T883 |
det |
this,disorder |
| R574 |
T883 |
T880 |
dobj |
disorder,study |
| R575 |
T884 |
T861 |
punct |
.,is |