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PMC:1584416 / 29568-32355 JSONTXT 5 Projects

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Id Subject Object Predicate Lexical cue
T5607 0-1 DT denotes A
T5609 2-11 JJ denotes Biallelic
T5608 12-20 NN denotes Paradigm
T5610 21-24 IN denotes for
T5611 25-28 NN denotes XPD
T5612 29-38 NNS denotes Disorders
T5613 38-320 sentence denotes Recently, proteins originating from presumed null alleles were biochemically characterised as inactive in basal transcription [27], providing an explanation as to why these alleles failed to rescue lethality in haploid S. pombe with a null mutation in the XPD homologue rad15 [19].
T5614 39-47 RB denotes Recently
T5616 47-49 , denotes ,
T5617 49-57 NN denotes proteins
T5618 58-69 VBG denotes originating
T5619 70-74 IN denotes from
T5620 75-83 VBN denotes presumed
T5622 84-88 JJ denotes null
T5621 89-96 NNS denotes alleles
T5623 97-101 VBD denotes were
T5624 102-115 RB denotes biochemically
T5615 116-129 VBN denotes characterised
T5625 130-132 IN denotes as
T5626 133-141 JJ denotes inactive
T5627 142-144 IN denotes in
T5628 145-150 JJ denotes basal
T5629 151-164 NN denotes transcription
T5630 165-166 -LRB- denotes [
T5631 166-168 CD denotes 27
T5632 168-169 -RRB- denotes ]
T5633 169-171 , denotes ,
T5634 171-180 VBG denotes providing
T5635 181-183 DT denotes an
T5636 184-195 NN denotes explanation
T5637 196-198 IN denotes as
T5638 199-201 IN denotes to
T5639 202-205 WRB denotes why
T5641 206-211 DT denotes these
T5642 212-219 NNS denotes alleles
T5640 220-226 VBD denotes failed
T5643 227-229 TO denotes to
T5644 230-236 VB denotes rescue
T5645 237-246 NN denotes lethality
T5646 247-249 IN denotes in
T5647 250-257 JJ denotes haploid
T5649 258-260 FW denotes S.
T5648 261-266 FW denotes pombe
T5650 267-271 IN denotes with
T5651 272-273 DT denotes a
T5653 274-278 JJ denotes null
T5652 279-287 NN denotes mutation
T5654 288-290 IN denotes in
T5655 291-294 DT denotes the
T5657 295-298 NN denotes XPD
T5656 299-308 NN denotes homologue
T5658 309-314 NN denotes rad15
T5659 315-316 -LRB- denotes [
T5660 316-318 CD denotes 19
T5661 318-319 -RRB- denotes ]
T5662 319-320 . denotes .
T5663 320-552 sentence denotes Our data suggest that certain presumed null alleles, although unable on their own to support basal transcription, may in fact have a substantial impact on disease outcome in compound heterozygous humans, as they do in mouse models.
T5664 321-324 PRP$ denotes Our
T5665 325-329 NNS denotes data
T5666 330-337 VBP denotes suggest
T5667 338-342 IN denotes that
T5669 343-350 JJ denotes certain
T5671 351-359 VBN denotes presumed
T5672 360-364 JJ denotes null
T5670 365-372 NNS denotes alleles
T5673 372-374 , denotes ,
T5674 374-382 IN denotes although
T5675 383-389 JJ denotes unable
T5676 390-392 IN denotes on
T5678 393-398 PRP$ denotes their
T5679 399-402 NN denotes own
T5680 403-405 TO denotes to
T5677 406-413 VB denotes support
T5681 414-419 JJ denotes basal
T5682 420-433 NN denotes transcription
T5683 433-435 , denotes ,
T5684 435-438 MD denotes may
T5685 439-441 IN denotes in
T5686 442-446 NN denotes fact
T5668 447-451 VB denotes have
T5687 452-453 DT denotes a
T5689 454-465 JJ denotes substantial
T5688 466-472 NN denotes impact
T5690 473-475 IN denotes on
T5691 476-483 NN denotes disease
T5692 484-491 NN denotes outcome
T5693 492-494 IN denotes in
T5694 495-503 NN denotes compound
T5696 504-516 JJ denotes heterozygous
T5695 517-523 NNS denotes humans
T5697 523-525 , denotes ,
T5698 525-527 IN denotes as
T5700 528-532 PRP denotes they
T5701 533-535 VBP denotes do
T5699 536-538 IN denotes in
T5702 539-544 NN denotes mouse
T5703 545-551 NNS denotes models
T5704 551-552 . denotes .
T5705 552-761 sentence denotes Clinical evidence in support of this hypothesis comes from a number of XP complementation group D patients that do not fit within the framework of the current monoallelic paradigm of XPD disorders (Figure 5).
T5706 553-561 JJ denotes Clinical
T5707 562-570 NN denotes evidence
T5709 571-573 IN denotes in
T5710 574-581 NN denotes support
T5711 582-584 IN denotes of
T5712 585-589 DT denotes this
T5713 590-600 NN denotes hypothesis
T5708 601-606 VBZ denotes comes
T5714 607-611 IN denotes from
T5715 612-613 DT denotes a
T5716 614-620 NN denotes number
T5717 621-623 IN denotes of
T5718 624-626 NN denotes XP
T5720 627-642 NN denotes complementation
T5721 643-648 NN denotes group
T5722 649-650 NN denotes D
T5719 651-659 NNS denotes patients
T5723 660-664 WDT denotes that
T5725 665-667 VBP denotes do
T5726 668-671 RB denotes not
T5724 672-675 VB denotes fit
T5727 676-682 IN denotes within
T5728 683-686 DT denotes the
T5729 687-696 NN denotes framework
T5730 697-699 IN denotes of
T5731 700-703 DT denotes the
T5733 704-711 JJ denotes current
T5734 712-723 JJ denotes monoallelic
T5732 724-732 NN denotes paradigm
T5735 733-735 IN denotes of
T5736 736-739 NN denotes XPD
T5737 740-749 NNS denotes disorders
T5738 750-751 -LRB- denotes (
T5739 751-757 NN denotes Figure
T5740 758-759 CD denotes 5
T5741 759-760 -RRB- denotes )
T5742 760-761 . denotes .
T5743 761-1189 sentence denotes In contrast to two hemizygous XPDXPCS patients carrying the XPDG47R- or XPDR666W-encoding alleles who died of the disease before 2 y of age, two compound heterozygous XPDXPCS patients carrying the same XPDG47R- or XPDR666W-encoding alleles in addition to the presumed null XPDL461V+del716−730 both had considerably milder disease symptoms and survived more than ten times longer (A. Lehmann, personal communication) (Figure 5).
T5744 762-764 IN denotes In
T5746 765-773 NN denotes contrast
T5747 774-776 IN denotes to
T5748 777-780 CD denotes two
T5750 781-791 JJ denotes hemizygous
T5751 792-799 NN denotes XPDXPCS
T5749 800-808 NNS denotes patients
T5752 809-817 VBG denotes carrying
T5753 818-821 DT denotes the
T5755 822-829 NN denotes XPDG47R
T5757 829-830 HYPH denotes -
T5758 831-833 CC denotes or
T5759 834-842 NN denotes XPDR666W
T5760 842-843 HYPH denotes -
T5756 843-851 VBG denotes encoding
T5754 852-859 NNS denotes alleles
T5761 860-863 WP denotes who
T5762 864-868 VBD denotes died
T5763 869-871 IN denotes of
T5764 872-875 DT denotes the
T5765 876-883 NN denotes disease
T5766 884-890 IN denotes before
T5767 891-892 CD denotes 2
T5768 893-894 NNS denotes y
T5769 895-897 IN denotes of
T5770 898-901 NN denotes age
T5771 901-903 , denotes ,
T5772 903-906 CD denotes two
T5774 907-915 JJ denotes compound
T5775 916-928 JJ denotes heterozygous
T5776 929-936 NN denotes XPDXPCS
T5773 937-945 NNS denotes patients
T5777 946-954 VBG denotes carrying
T5778 955-958 DT denotes the
T5780 959-963 JJ denotes same
T5781 964-971 NN denotes XPDG47R
T5783 971-972 HYPH denotes -
T5784 973-975 CC denotes or
T5785 976-984 NN denotes XPDR666W
T5786 984-985 HYPH denotes -
T5782 985-993 VBG denotes encoding
T5779 994-1001 NNS denotes alleles
T5787 1002-1004 IN denotes in
T5788 1005-1013 NN denotes addition
T5789 1014-1016 IN denotes to
T5790 1017-1020 DT denotes the
T5792 1021-1029 VBN denotes presumed
T5793 1030-1034 JJ denotes null
T5794 1035-1043 NN denotes XPDL461V
T5795 1043-1044 SYM denotes +
T5796 1044-1050 NN denotes del716
T5797 1050-1051 HYPH denotes −
T5791 1051-1054 NN denotes 730
T5798 1055-1059 DT denotes both
T5745 1060-1063 VBD denotes had
T5799 1064-1076 RB denotes considerably
T5800 1077-1083 JJR denotes milder
T5802 1084-1091 NN denotes disease
T5801 1092-1100 NNS denotes symptoms
T5803 1101-1104 CC denotes and
T5804 1105-1113 VBD denotes survived
T5805 1114-1118 JJR denotes more
T5807 1119-1123 IN denotes than
T5806 1124-1127 CD denotes ten
T5808 1128-1133 NNS denotes times
T5809 1134-1140 RBR denotes longer
T5810 1141-1142 -LRB- denotes (
T5811 1142-1144 NNP denotes A.
T5812 1145-1152 NNP denotes Lehmann
T5813 1152-1154 , denotes ,
T5814 1154-1162 JJ denotes personal
T5815 1163-1176 NN denotes communication
T5816 1176-1177 -RRB- denotes )
T5817 1178-1179 -LRB- denotes (
T5818 1179-1185 NN denotes Figure
T5819 1186-1187 CD denotes 5
T5820 1187-1188 -RRB- denotes )
T5821 1188-1189 . denotes .
T5822 1189-1304 sentence denotes Compound heterozygosity is also associated with the recently reported combination XP and TTD (XPTTD) syndrome [8].
T5823 1190-1198 NN denotes Compound
T5824 1199-1213 NN denotes heterozygosity
T5826 1214-1216 VBZ denotes is
T5827 1217-1221 RB denotes also
T5825 1222-1232 VBN denotes associated
T5828 1233-1237 IN denotes with
T5829 1238-1241 DT denotes the
T5831 1242-1250 RB denotes recently
T5832 1251-1259 VBN denotes reported
T5833 1260-1271 NN denotes combination
T5834 1272-1274 NN denotes XP
T5835 1275-1278 CC denotes and
T5836 1279-1282 NN denotes TTD
T5837 1283-1284 -LRB- denotes (
T5838 1284-1289 NN denotes XPTTD
T5839 1289-1290 -RRB- denotes )
T5830 1291-1299 NN denotes syndrome
T5840 1300-1301 -LRB- denotes [
T5841 1301-1302 CD denotes 8
T5842 1302-1303 -RRB- denotes ]
T5843 1303-1304 . denotes .
T5844 1304-1449 sentence denotes Similar to the XpdTTD/†XPCS and XpdTTD/†XP mice described here, both patients with XPTTD described so far had intermediate hair cysteine values.
T5845 1305-1312 JJ denotes Similar
T5847 1313-1315 IN denotes to
T5848 1316-1319 DT denotes the
T5850 1320-1326 NN denotes XpdTTD
T5852 1326-1327 HYPH denotes /
T5851 1327-1332 NN denotes †XPCS
T5853 1333-1336 CC denotes and
T5854 1337-1343 NN denotes XpdTTD
T5856 1343-1344 HYPH denotes /
T5855 1344-1347 NN denotes †XP
T5849 1348-1352 NNS denotes mice
T5857 1353-1362 VBN denotes described
T5858 1363-1367 RB denotes here
T5859 1367-1369 , denotes ,
T5860 1369-1373 DT denotes both
T5861 1374-1382 NNS denotes patients
T5862 1383-1387 IN denotes with
T5863 1388-1393 NN denotes XPTTD
T5864 1394-1403 VBN denotes described
T5865 1404-1406 RB denotes so
T5866 1407-1410 RB denotes far
T5846 1411-1414 VBD denotes had
T5867 1415-1427 JJ denotes intermediate
T5869 1428-1432 NN denotes hair
T5870 1433-1441 NN denotes cysteine
T5868 1442-1448 NNS denotes values
T5871 1448-1449 . denotes .
T5872 1449-1591 sentence denotes Furthermore, XPTTD patient XP38BR carried a “causative” TTD mutation in one allele and a novel point mutation encoding XPDL485P in the other.
T5873 1450-1461 RB denotes Furthermore
T5875 1461-1463 , denotes ,
T5876 1463-1468 NN denotes XPTTD
T5878 1469-1476 NN denotes patient
T5877 1477-1483 NN denotes XP38BR
T5874 1484-1491 VBD denotes carried
T5879 1492-1493 DT denotes a
T5881 1494-1495 `` denotes “
T5882 1495-1504 JJ denotes causative
T5883 1504-1505 '' denotes ”
T5884 1506-1509 NN denotes TTD
T5880 1510-1518 NN denotes mutation
T5885 1519-1521 IN denotes in
T5886 1522-1525 CD denotes one
T5887 1526-1532 NN denotes allele
T5888 1533-1536 CC denotes and
T5889 1537-1538 DT denotes a
T5891 1539-1544 JJ denotes novel
T5892 1545-1550 NN denotes point
T5890 1551-1559 NN denotes mutation
T5893 1560-1568 VBG denotes encoding
T5894 1569-1577 NN denotes XPDL485P
T5895 1578-1580 IN denotes in
T5896 1581-1584 DT denotes the
T5897 1585-1590 JJ denotes other
T5898 1590-1591 . denotes .
T5899 1591-1879 sentence denotes Although the XPDL485P-encoding allele fails to complement viability in the haploid S. pombe rad15 deletion strain and is thus interpretable as a null allele [8], we nonetheless suggest that the combined XPTTD phenotype in this patient involves phenotypic contributions from both alleles.
T5900 1592-1600 IN denotes Although
T5902 1601-1604 DT denotes the
T5904 1605-1613 NN denotes XPDL485P
T5906 1613-1614 HYPH denotes -
T5905 1614-1622 VBG denotes encoding
T5903 1623-1629 NN denotes allele
T5901 1630-1635 VBZ denotes fails
T5908 1636-1638 TO denotes to
T5909 1639-1649 VB denotes complement
T5910 1650-1659 NN denotes viability
T5911 1660-1662 IN denotes in
T5912 1663-1666 DT denotes the
T5914 1667-1674 JJ denotes haploid
T5915 1675-1677 FW denotes S.
T5916 1678-1683 FW denotes pombe
T5917 1684-1689 NN denotes rad15
T5918 1690-1698 NN denotes deletion
T5913 1699-1705 NN denotes strain
T5919 1706-1709 CC denotes and
T5920 1710-1712 VBZ denotes is
T5921 1713-1717 RB denotes thus
T5922 1718-1731 JJ denotes interpretable
T5923 1732-1734 IN denotes as
T5924 1735-1736 DT denotes a
T5926 1737-1741 JJ denotes null
T5925 1742-1748 NN denotes allele
T5927 1749-1750 -LRB- denotes [
T5928 1750-1751 CD denotes 8
T5929 1751-1752 -RRB- denotes ]
T5930 1752-1754 , denotes ,
T5931 1754-1756 PRP denotes we
T5932 1757-1768 RB denotes nonetheless
T5907 1769-1776 VBP denotes suggest
T5933 1777-1781 IN denotes that
T5935 1782-1785 DT denotes the
T5937 1786-1794 JJ denotes combined
T5938 1795-1800 NN denotes XPTTD
T5936 1801-1810 NN denotes phenotype
T5939 1811-1813 IN denotes in
T5940 1814-1818 DT denotes this
T5941 1819-1826 NN denotes patient
T5934 1827-1835 VBZ denotes involves
T5942 1836-1846 JJ denotes phenotypic
T5943 1847-1860 NNS denotes contributions
T5944 1861-1865 IN denotes from
T5945 1866-1870 DT denotes both
T5946 1871-1878 NNS denotes alleles
T5947 1878-1879 . denotes .
T5948 1879-2012 sentence denotes Taken together, these data suggest a shift to a biallelic paradigm for compound heterozygous patients in XP complementation group D.
T5949 1880-1885 VBN denotes Taken
T5951 1886-1894 RB denotes together
T5952 1894-1896 , denotes ,
T5953 1896-1901 DT denotes these
T5954 1902-1906 NNS denotes data
T5950 1907-1914 VBP denotes suggest
T5955 1915-1916 DT denotes a
T5956 1917-1922 NN denotes shift
T5957 1923-1925 IN denotes to
T5958 1926-1927 DT denotes a
T5960 1928-1937 JJ denotes biallelic
T5959 1938-1946 NN denotes paradigm
T5961 1947-1950 IN denotes for
T5962 1951-1959 NN denotes compound
T5964 1960-1972 JJ denotes heterozygous
T5963 1973-1981 NNS denotes patients
T5965 1982-1984 IN denotes in
T5966 1985-1987 NN denotes XP
T5968 1988-2003 NN denotes complementation
T5969 2004-2009 NN denotes group
T5967 2010-2011 NN denotes D
T5970 2011-2012 . denotes .
T9280 2023-2031 NN denotes Genotype
T9282 2031-2032 HYPH denotes –
T9281 2032-2041 NN denotes Phenotype
T9283 2042-2055 NNS denotes Relationships
T9284 2056-2058 IN denotes in
T9285 2059-2062 NN denotes XPD
T9286 2063-2072 NNS denotes Disorders
T9287 2072-2185 sentence denotes According to the current monoallelic hypothesis, phenotype is determined solely by the causative allele product.
T9288 2073-2082 VBG denotes According
T9290 2083-2085 IN denotes to
T9291 2086-2089 DT denotes the
T9293 2090-2097 JJ denotes current
T9294 2098-2109 JJ denotes monoallelic
T9292 2110-2120 NN denotes hypothesis
T9295 2120-2122 , denotes ,
T9296 2122-2131 NN denotes phenotype
T9297 2132-2134 VBZ denotes is
T9289 2135-2145 VBN denotes determined
T9298 2146-2152 RB denotes solely
T9299 2153-2155 IN denotes by
T9300 2156-2159 DT denotes the
T9302 2160-2169 JJ denotes causative
T9303 2170-2176 NN denotes allele
T9301 2177-2184 NN denotes product
T9304 2184-2185 . denotes .
T9305 2185-2263 sentence denotes If a second, different allele is present, it is considered a functional null.
T9306 2186-2188 IN denotes If
T9308 2189-2190 DT denotes a
T9310 2191-2197 JJ denotes second
T9311 2197-2199 , denotes ,
T9312 2199-2208 JJ denotes different
T9309 2209-2215 NN denotes allele
T9307 2216-2218 VBZ denotes is
T9314 2219-2226 JJ denotes present
T9315 2226-2228 , denotes ,
T9316 2228-2230 PRP denotes it
T9317 2231-2233 VBZ denotes is
T9313 2234-2244 VBN denotes considered
T9318 2245-2246 DT denotes a
T9320 2247-2257 JJ denotes functional
T9319 2258-2262 NN denotes null
T9321 2262-2263 . denotes .
T9322 2263-2363 sentence denotes There is a lack of any correlation between the site of the XPD mutation and the resulting disorder.
T9323 2264-2269 EX denotes There
T9324 2270-2272 VBZ denotes is
T9325 2273-2274 DT denotes a
T9326 2275-2279 NN denotes lack
T9327 2280-2282 IN denotes of
T9328 2283-2286 DT denotes any
T9329 2287-2298 NN denotes correlation
T9330 2299-2306 IN denotes between
T9331 2307-2310 DT denotes the
T9332 2311-2315 NN denotes site
T9333 2316-2318 IN denotes of
T9334 2319-2322 DT denotes the
T9336 2323-2326 NN denotes XPD
T9335 2327-2335 NN denotes mutation
T9337 2336-2339 CC denotes and
T9338 2340-2343 DT denotes the
T9340 2344-2353 VBG denotes resulting
T9339 2354-2362 NN denotes disorder
T9341 2362-2363 . denotes .
T9342 2363-2479 sentence denotes We propose a biallelic hypothesis for compound heterozygotes in which both alleles can contribute to the phenotype.
T9343 2364-2366 PRP denotes We
T9344 2367-2374 VBP denotes propose
T9345 2375-2376 DT denotes a
T9347 2377-2386 JJ denotes biallelic
T9346 2387-2397 NN denotes hypothesis
T9348 2398-2401 IN denotes for
T9349 2402-2410 NN denotes compound
T9350 2411-2424 NNS denotes heterozygotes
T9351 2425-2427 IN denotes in
T9353 2428-2433 WDT denotes which
T9354 2434-2438 DT denotes both
T9355 2439-2446 NNS denotes alleles
T9356 2447-2450 MD denotes can
T9352 2451-2461 VB denotes contribute
T9357 2462-2464 IN denotes to
T9358 2465-2468 DT denotes the
T9359 2469-2478 NN denotes phenotype
T9360 2478-2479 . denotes .
T9361 2479-2716 sentence denotes Examples of compound heterozygous patients in which a second, presumed null allele is likely to contribute to disease outcome are provided above in comparison to corresponding homo- or hemizygous patients with the same causative allele.
T9362 2480-2488 NNS denotes Examples
T9364 2489-2491 IN denotes of
T9365 2492-2500 NN denotes compound
T9367 2501-2513 JJ denotes heterozygous
T9366 2514-2522 NNS denotes patients
T9368 2523-2525 IN denotes in
T9370 2526-2531 WDT denotes which
T9371 2532-2533 DT denotes a
T9373 2534-2540 JJ denotes second
T9374 2540-2542 , denotes ,
T9375 2542-2550 JJ denotes presumed
T9376 2551-2555 JJ denotes null
T9372 2556-2562 NN denotes allele
T9369 2563-2565 VBZ denotes is
T9377 2566-2572 JJ denotes likely
T9378 2573-2575 TO denotes to
T9379 2576-2586 VB denotes contribute
T9380 2587-2589 IN denotes to
T9381 2590-2597 NN denotes disease
T9382 2598-2605 NN denotes outcome
T9383 2606-2609 VBP denotes are
T9363 2610-2618 VBN denotes provided
T9384 2619-2624 RB denotes above
T9385 2625-2627 IN denotes in
T9386 2628-2638 NN denotes comparison
T9387 2639-2641 IN denotes to
T9388 2642-2655 VBG denotes corresponding
T9390 2656-2660 AFX denotes homo
T9392 2660-2661 HYPH denotes -
T9393 2662-2664 CC denotes or
T9391 2665-2675 JJ denotes hemizygous
T9389 2676-2684 NNS denotes patients
T9394 2685-2689 IN denotes with
T9395 2690-2693 DT denotes the
T9397 2694-2698 JJ denotes same
T9398 2699-2708 JJ denotes causative
T9396 2709-2715 NN denotes allele
T9399 2715-2716 . denotes .
T9400 2716-2787 sentence denotes Numbers in the schematic of the protein indicate the helicase domains.
T9401 2717-2724 NNS denotes Numbers
T9403 2725-2727 IN denotes in
T9404 2728-2731 DT denotes the
T9405 2732-2741 NN denotes schematic
T9406 2742-2744 IN denotes of
T9407 2745-2748 DT denotes the
T9408 2749-2756 NN denotes protein
T9402 2757-2765 VBP denotes indicate
T9409 2766-2769 DT denotes the
T9411 2770-2778 NN denotes helicase
T9410 2779-2786 NNS denotes domains
T9412 2786-2787 . denotes .
R3755 T5607 T5608 det A,Paradigm
R3756 T5609 T5608 amod Biallelic,Paradigm
R3757 T5610 T5608 prep for,Paradigm
R3758 T5611 T5612 compound XPD,Disorders
R3759 T5612 T5610 pobj Disorders,for
R3760 T5614 T5615 advmod Recently,characterised
R3761 T5616 T5615 punct ", ",characterised
R3762 T5617 T5615 nsubjpass proteins,characterised
R3763 T5618 T5617 acl originating,proteins
R3764 T5619 T5618 prep from,originating
R3765 T5620 T5621 amod presumed,alleles
R3766 T5621 T5619 pobj alleles,from
R3767 T5622 T5621 amod null,alleles
R3768 T5623 T5615 auxpass were,characterised
R3769 T5624 T5615 advmod biochemically,characterised
R3770 T5625 T5615 prep as,characterised
R3771 T5626 T5625 amod inactive,as
R3772 T5627 T5615 prep in,characterised
R3773 T5628 T5629 amod basal,transcription
R3774 T5629 T5627 pobj transcription,in
R3775 T5630 T5631 punct [,27
R3776 T5631 T5615 parataxis 27,characterised
R3777 T5632 T5631 punct ],27
R3778 T5633 T5615 punct ", ",characterised
R3779 T5634 T5615 advcl providing,characterised
R3780 T5635 T5636 det an,explanation
R3781 T5636 T5634 dobj explanation,providing
R3782 T5637 T5636 prep as,explanation
R3783 T5638 T5637 prep to,as
R3784 T5639 T5640 advmod why,failed
R3785 T5640 T5638 pcomp failed,to
R3786 T5641 T5642 det these,alleles
R3787 T5642 T5640 nsubj alleles,failed
R3788 T5643 T5644 aux to,rescue
R3789 T5644 T5640 xcomp rescue,failed
R3790 T5645 T5644 dobj lethality,rescue
R3791 T5646 T5644 prep in,rescue
R3792 T5647 T5648 amod haploid,pombe
R3793 T5648 T5646 pobj pombe,in
R3794 T5649 T5648 nmod S.,pombe
R3795 T5650 T5648 prep with,pombe
R3796 T5651 T5652 det a,mutation
R3797 T5652 T5650 pobj mutation,with
R3798 T5653 T5652 amod null,mutation
R3799 T5654 T5652 prep in,mutation
R3800 T5655 T5656 det the,homologue
R3801 T5656 T5654 pobj homologue,in
R3802 T5657 T5656 compound XPD,homologue
R3803 T5658 T5656 appos rad15,homologue
R3804 T5659 T5660 punct [,19
R3805 T5660 T5640 parataxis 19,failed
R3806 T5661 T5660 punct ],19
R3807 T5662 T5615 punct .,characterised
R3808 T5664 T5665 poss Our,data
R3809 T5665 T5666 nsubj data,suggest
R3810 T5667 T5668 mark that,have
R3811 T5668 T5666 ccomp have,suggest
R3812 T5669 T5670 amod certain,alleles
R3813 T5670 T5668 nsubj alleles,have
R3814 T5671 T5672 advmod presumed,null
R3815 T5672 T5670 amod null,alleles
R3816 T5673 T5668 punct ", ",have
R3817 T5674 T5675 mark although,unable
R3818 T5675 T5668 advcl unable,have
R3819 T5676 T5677 prep on,support
R3820 T5677 T5675 xcomp support,unable
R3821 T5678 T5679 poss their,own
R3822 T5679 T5676 pobj own,on
R3823 T5680 T5677 aux to,support
R3824 T5681 T5682 amod basal,transcription
R3825 T5682 T5677 dobj transcription,support
R3826 T5683 T5668 punct ", ",have
R3827 T5684 T5668 aux may,have
R3828 T5685 T5668 prep in,have
R3829 T5686 T5685 pobj fact,in
R3830 T5687 T5688 det a,impact
R3831 T5688 T5668 dobj impact,have
R3832 T5689 T5688 amod substantial,impact
R3833 T5690 T5688 prep on,impact
R3834 T5691 T5692 compound disease,outcome
R3835 T5692 T5690 pobj outcome,on
R3836 T5693 T5688 prep in,impact
R3837 T5694 T5695 nmod compound,humans
R3838 T5695 T5693 pobj humans,in
R3839 T5696 T5695 amod heterozygous,humans
R3840 T5697 T5668 punct ", ",have
R3841 T5698 T5699 mark as,in
R3842 T5699 T5668 advcl in,have
R3843 T5700 T5699 nsubj they,in
R3844 T5701 T5699 aux do,in
R3845 T5702 T5703 compound mouse,models
R3846 T5703 T5699 pobj models,in
R3847 T5704 T5666 punct .,suggest
R3848 T5706 T5707 amod Clinical,evidence
R3849 T5707 T5708 nsubj evidence,comes
R3850 T5709 T5707 prep in,evidence
R3851 T5710 T5709 pobj support,in
R3852 T5711 T5710 prep of,support
R3853 T5712 T5713 det this,hypothesis
R3854 T5713 T5711 pobj hypothesis,of
R3855 T5714 T5708 prep from,comes
R3856 T5715 T5716 det a,number
R3857 T5716 T5714 pobj number,from
R3858 T5717 T5716 prep of,number
R3859 T5718 T5719 compound XP,patients
R3860 T5719 T5717 pobj patients,of
R3861 T5720 T5719 compound complementation,patients
R3862 T5721 T5722 compound group,D
R3863 T5722 T5719 compound D,patients
R3864 T5723 T5724 dep that,fit
R3865 T5724 T5719 relcl fit,patients
R3866 T5725 T5724 aux do,fit
R3867 T5726 T5724 neg not,fit
R3868 T5727 T5724 prep within,fit
R3869 T5728 T5729 det the,framework
R3870 T5729 T5727 pobj framework,within
R3871 T5730 T5729 prep of,framework
R3872 T5731 T5732 det the,paradigm
R3873 T5732 T5730 pobj paradigm,of
R3874 T5733 T5732 amod current,paradigm
R3875 T5734 T5732 amod monoallelic,paradigm
R3876 T5735 T5732 prep of,paradigm
R3877 T5736 T5737 compound XPD,disorders
R3878 T5737 T5735 pobj disorders,of
R3879 T5738 T5739 punct (,Figure
R3880 T5739 T5708 parataxis Figure,comes
R3881 T5740 T5739 nummod 5,Figure
R3882 T5741 T5739 punct ),Figure
R3883 T5742 T5708 punct .,comes
R3884 T5744 T5745 prep In,had
R3885 T5746 T5744 pobj contrast,In
R3886 T5747 T5746 prep to,contrast
R3887 T5748 T5749 nummod two,patients
R3888 T5749 T5747 pobj patients,to
R3889 T5750 T5749 amod hemizygous,patients
R3890 T5751 T5749 compound XPDXPCS,patients
R3891 T5752 T5749 acl carrying,patients
R3892 T5753 T5754 det the,alleles
R3893 T5754 T5752 dobj alleles,carrying
R3894 T5755 T5756 npadvmod XPDG47R,encoding
R3895 T5756 T5754 amod encoding,alleles
R3896 T5757 T5755 punct -,XPDG47R
R3897 T5758 T5755 cc or,XPDG47R
R3898 T5759 T5755 conj XPDR666W,XPDG47R
R3899 T5760 T5756 punct -,encoding
R3900 T5761 T5762 dep who,died
R3901 T5762 T5754 relcl died,alleles
R3902 T5763 T5762 prep of,died
R3903 T5764 T5765 det the,disease
R3904 T5765 T5763 pobj disease,of
R3905 T5766 T5762 prep before,died
R3906 T5767 T5768 nummod 2,y
R3907 T5768 T5766 pobj y,before
R3908 T5769 T5768 prep of,y
R3909 T5770 T5769 pobj age,of
R3910 T5771 T5745 punct ", ",had
R3911 T5772 T5773 nummod two,patients
R3912 T5773 T5745 nsubj patients,had
R3913 T5774 T5773 amod compound,patients
R3914 T5775 T5773 amod heterozygous,patients
R3915 T5776 T5773 compound XPDXPCS,patients
R3916 T5777 T5773 acl carrying,patients
R3917 T5778 T5779 det the,alleles
R3918 T5779 T5777 dobj alleles,carrying
R3919 T5780 T5779 amod same,alleles
R3920 T5781 T5782 npadvmod XPDG47R,encoding
R3921 T5782 T5779 amod encoding,alleles
R3922 T5783 T5781 punct -,XPDG47R
R3923 T5784 T5781 cc or,XPDG47R
R3924 T5785 T5781 conj XPDR666W,XPDG47R
R3925 T5786 T5782 punct -,encoding
R3926 T5787 T5779 prep in,alleles
R3927 T5788 T5787 pobj addition,in
R3928 T5789 T5788 prep to,addition
R3929 T5790 T5791 det the,730
R3930 T5791 T5789 pobj 730,to
R3931 T5792 T5793 advmod presumed,null
R3932 T5793 T5791 amod null,730
R3933 T5794 T5791 nmod XPDL461V,730
R3934 T5795 T5791 punct +,730
R3935 T5796 T5791 compound del716,730
R3936 T5797 T5791 punct −,730
R3937 T5798 T5773 appos both,patients
R3938 T5799 T5800 advmod considerably,milder
R3939 T5800 T5801 amod milder,symptoms
R3940 T5801 T5745 dobj symptoms,had
R3941 T5802 T5801 compound disease,symptoms
R3942 T5803 T5745 cc and,had
R3943 T5804 T5745 conj survived,had
R3944 T5805 T5806 amod more,ten
R3945 T5806 T5808 nummod ten,times
R3946 T5807 T5806 quantmod than,ten
R3947 T5808 T5809 npadvmod times,longer
R3948 T5809 T5804 advmod longer,survived
R3949 T5810 T5811 punct (,A.
R3950 T5811 T5804 meta A.,survived
R3951 T5812 T5811 nmod Lehmann,A.
R3952 T5813 T5811 punct ", ",A.
R3953 T5814 T5811 amod personal,A.
R3954 T5815 T5811 nmod communication,A.
R3955 T5816 T5811 punct ),A.
R3956 T5817 T5818 punct (,Figure
R3957 T5818 T5804 parataxis Figure,survived
R3958 T5819 T5818 nummod 5,Figure
R3959 T5820 T5818 punct ),Figure
R3960 T5821 T5745 punct .,had
R3961 T5823 T5824 compound Compound,heterozygosity
R3962 T5824 T5825 nsubjpass heterozygosity,associated
R3963 T5826 T5825 auxpass is,associated
R3964 T5827 T5825 advmod also,associated
R3965 T5828 T5825 prep with,associated
R3966 T5829 T5830 det the,syndrome
R3967 T5830 T5828 pobj syndrome,with
R3968 T5831 T5832 advmod recently,reported
R3969 T5832 T5830 amod reported,syndrome
R3970 T5833 T5830 nmod combination,syndrome
R3971 T5834 T5830 nmod XP,syndrome
R3972 T5835 T5834 cc and,XP
R3973 T5836 T5834 conj TTD,XP
R3974 T5837 T5838 punct (,XPTTD
R3975 T5838 T5836 parataxis XPTTD,TTD
R3976 T5839 T5838 punct ),XPTTD
R3977 T5840 T5841 punct [,8
R3978 T5841 T5825 parataxis 8,associated
R3979 T5842 T5841 punct ],8
R3980 T5843 T5825 punct .,associated
R3981 T5845 T5846 advcl Similar,had
R3982 T5847 T5845 prep to,Similar
R3983 T5848 T5849 det the,mice
R3984 T5849 T5847 pobj mice,to
R3985 T5850 T5851 nmod XpdTTD,†XPCS
R3986 T5851 T5849 nmod †XPCS,mice
R3987 T5852 T5851 punct /,†XPCS
R3988 T5853 T5851 cc and,†XPCS
R3989 T5854 T5855 compound XpdTTD,†XP
R3990 T5855 T5851 conj †XP,†XPCS
R3991 T5856 T5855 punct /,†XP
R3992 T5857 T5849 acl described,mice
R3993 T5858 T5857 advmod here,described
R3994 T5859 T5846 punct ", ",had
R3995 T5860 T5861 det both,patients
R3996 T5861 T5846 nsubj patients,had
R3997 T5862 T5861 prep with,patients
R3998 T5863 T5862 pobj XPTTD,with
R3999 T5864 T5861 acl described,patients
R4000 T5865 T5866 advmod so,far
R4001 T5866 T5864 advmod far,described
R4002 T5867 T5868 amod intermediate,values
R4003 T5868 T5846 dobj values,had
R4004 T5869 T5870 compound hair,cysteine
R4005 T5870 T5868 compound cysteine,values
R4006 T5871 T5846 punct .,had
R4007 T5873 T5874 advmod Furthermore,carried
R4008 T5875 T5874 punct ", ",carried
R4009 T5876 T5877 compound XPTTD,XP38BR
R4010 T5877 T5874 nsubj XP38BR,carried
R4011 T5878 T5877 compound patient,XP38BR
R4012 T5879 T5880 det a,mutation
R4013 T5880 T5874 dobj mutation,carried
R4014 T5881 T5880 punct “,mutation
R4015 T5882 T5880 amod causative,mutation
R4016 T5883 T5880 punct ”,mutation
R4017 T5884 T5880 compound TTD,mutation
R4018 T5885 T5874 prep in,carried
R4019 T5886 T5887 nummod one,allele
R4020 T5887 T5885 pobj allele,in
R4021 T5888 T5874 cc and,carried
R4022 T5889 T5890 det a,mutation
R4023 T5890 T5874 conj mutation,carried
R4024 T5891 T5890 amod novel,mutation
R4025 T5892 T5890 compound point,mutation
R4026 T5893 T5890 acl encoding,mutation
R4027 T5894 T5893 dobj XPDL485P,encoding
R4028 T5895 T5890 prep in,mutation
R4029 T5896 T5897 det the,other
R4030 T5897 T5895 pobj other,in
R4031 T5898 T5874 punct .,carried
R4032 T5900 T5901 mark Although,fails
R4033 T5901 T5907 advcl fails,suggest
R4034 T5902 T5903 det the,allele
R4035 T5903 T5901 nsubj allele,fails
R4036 T5904 T5905 npadvmod XPDL485P,encoding
R4037 T5905 T5903 amod encoding,allele
R4038 T5906 T5905 punct -,encoding
R4039 T5908 T5909 aux to,complement
R4040 T5909 T5901 xcomp complement,fails
R4041 T5910 T5909 dobj viability,complement
R4042 T5911 T5909 prep in,complement
R4043 T5912 T5913 det the,strain
R4044 T5913 T5911 pobj strain,in
R4045 T5914 T5913 amod haploid,strain
R4046 T5915 T5913 nmod S.,strain
R4047 T5916 T5913 nmod pombe,strain
R4048 T5917 T5913 compound rad15,strain
R4049 T5918 T5913 compound deletion,strain
R4050 T5919 T5901 cc and,fails
R4051 T5920 T5901 conj is,fails
R4052 T5921 T5920 advmod thus,is
R4053 T5922 T5920 acomp interpretable,is
R4054 T5923 T5922 prep as,interpretable
R4055 T5924 T5925 det a,allele
R4056 T5925 T5923 pobj allele,as
R4057 T5926 T5925 amod null,allele
R4058 T5927 T5928 punct [,8
R4059 T5928 T5920 parataxis 8,is
R4060 T5929 T5928 punct ],8
R4061 T5930 T5907 punct ", ",suggest
R4062 T5931 T5907 nsubj we,suggest
R4063 T5932 T5907 advmod nonetheless,suggest
R4064 T5933 T5934 mark that,involves
R4065 T5934 T5907 ccomp involves,suggest
R4066 T5935 T5936 det the,phenotype
R4067 T5936 T5934 nsubj phenotype,involves
R4068 T5937 T5936 amod combined,phenotype
R4069 T5938 T5936 compound XPTTD,phenotype
R4070 T5939 T5936 prep in,phenotype
R4071 T5940 T5941 det this,patient
R4072 T5941 T5939 pobj patient,in
R4073 T5942 T5943 amod phenotypic,contributions
R4074 T5943 T5934 dobj contributions,involves
R4075 T5944 T5943 prep from,contributions
R4076 T5945 T5946 det both,alleles
R4077 T5946 T5944 pobj alleles,from
R4078 T5947 T5907 punct .,suggest
R4079 T5949 T5950 advcl Taken,suggest
R4080 T5951 T5949 advmod together,Taken
R4081 T5952 T5950 punct ", ",suggest
R4082 T5953 T5954 det these,data
R4083 T5954 T5950 nsubj data,suggest
R4084 T5955 T5956 det a,shift
R4085 T5956 T5950 dobj shift,suggest
R4086 T5957 T5956 prep to,shift
R4087 T5958 T5959 det a,paradigm
R4088 T5959 T5957 pobj paradigm,to
R4089 T5960 T5959 amod biallelic,paradigm
R4090 T5961 T5959 prep for,paradigm
R4091 T5962 T5963 nmod compound,patients
R4092 T5963 T5961 pobj patients,for
R4093 T5964 T5963 amod heterozygous,patients
R4094 T5965 T5963 prep in,patients
R4095 T5966 T5967 compound XP,D
R4096 T5967 T5965 pobj D,in
R4097 T5968 T5967 compound complementation,D
R4098 T5969 T5967 compound group,D
R4099 T5970 T5950 punct .,suggest
R6329 T9280 T9281 compound Genotype,Phenotype
R6330 T9281 T9283 compound Phenotype,Relationships
R6331 T9282 T9281 punct –,Phenotype
R6332 T9284 T9283 prep in,Relationships
R6333 T9285 T9286 compound XPD,Disorders
R6334 T9286 T9284 pobj Disorders,in
R6335 T9288 T9289 prep According,determined
R6336 T9290 T9288 prep to,According
R6337 T9291 T9292 det the,hypothesis
R6338 T9292 T9290 pobj hypothesis,to
R6339 T9293 T9292 amod current,hypothesis
R6340 T9294 T9292 amod monoallelic,hypothesis
R6341 T9295 T9289 punct ", ",determined
R6342 T9296 T9289 nsubjpass phenotype,determined
R6343 T9297 T9289 auxpass is,determined
R6344 T9298 T9299 advmod solely,by
R6345 T9299 T9289 agent by,determined
R6346 T9300 T9301 det the,product
R6347 T9301 T9299 pobj product,by
R6348 T9302 T9301 amod causative,product
R6349 T9303 T9301 compound allele,product
R6350 T9304 T9289 punct .,determined
R6351 T9306 T9307 mark If,is
R6352 T9307 T9313 advcl is,considered
R6353 T9308 T9309 det a,allele
R6354 T9309 T9307 nsubj allele,is
R6355 T9310 T9309 amod second,allele
R6356 T9311 T9309 punct ", ",allele
R6357 T9312 T9309 amod different,allele
R6358 T9314 T9307 acomp present,is
R6359 T9315 T9313 punct ", ",considered
R6360 T9316 T9313 nsubjpass it,considered
R6361 T9317 T9313 auxpass is,considered
R6362 T9318 T9319 det a,null
R6363 T9319 T9313 oprd null,considered
R6364 T9320 T9319 amod functional,null
R6365 T9321 T9313 punct .,considered
R6366 T9323 T9324 expl There,is
R6367 T9325 T9326 det a,lack
R6368 T9326 T9324 attr lack,is
R6369 T9327 T9326 prep of,lack
R6370 T9328 T9329 det any,correlation
R6371 T9329 T9327 pobj correlation,of
R6372 T9330 T9329 prep between,correlation
R6373 T9331 T9332 det the,site
R6374 T9332 T9330 pobj site,between
R6375 T9333 T9332 prep of,site
R6376 T9334 T9335 det the,mutation
R6377 T9335 T9333 pobj mutation,of
R6378 T9336 T9335 compound XPD,mutation
R6379 T9337 T9332 cc and,site
R6380 T9338 T9339 det the,disorder
R6381 T9339 T9332 conj disorder,site
R6382 T9340 T9339 amod resulting,disorder
R6383 T9341 T9324 punct .,is
R6384 T9343 T9344 nsubj We,propose
R6385 T9345 T9346 det a,hypothesis
R6386 T9346 T9344 dobj hypothesis,propose
R6387 T9347 T9346 amod biallelic,hypothesis
R6388 T9348 T9346 prep for,hypothesis
R6389 T9349 T9350 compound compound,heterozygotes
R6390 T9350 T9348 pobj heterozygotes,for
R6391 T9351 T9352 prep in,contribute
R6392 T9352 T9346 relcl contribute,hypothesis
R6393 T9353 T9351 pobj which,in
R6394 T9354 T9355 det both,alleles
R6395 T9355 T9352 nsubj alleles,contribute
R6396 T9356 T9352 aux can,contribute
R6397 T9357 T9352 prep to,contribute
R6398 T9358 T9359 det the,phenotype
R6399 T9359 T9357 pobj phenotype,to
R6400 T9360 T9344 punct .,propose
R6401 T9362 T9363 nsubjpass Examples,provided
R6402 T9364 T9362 prep of,Examples
R6403 T9365 T9366 nmod compound,patients
R6404 T9366 T9364 pobj patients,of
R6405 T9367 T9366 amod heterozygous,patients
R6406 T9368 T9369 prep in,is
R6407 T9369 T9366 relcl is,patients
R6408 T9370 T9368 pobj which,in
R6409 T9371 T9372 det a,allele
R6410 T9372 T9369 nsubj allele,is
R6411 T9373 T9372 amod second,allele
R6412 T9374 T9372 punct ", ",allele
R6413 T9375 T9376 amod presumed,null
R6414 T9376 T9372 amod null,allele
R6415 T9377 T9369 acomp likely,is
R6416 T9378 T9379 aux to,contribute
R6417 T9379 T9377 xcomp contribute,likely
R6418 T9380 T9379 prep to,contribute
R6419 T9381 T9382 compound disease,outcome
R6420 T9382 T9380 pobj outcome,to
R6421 T9383 T9363 auxpass are,provided
R6422 T9384 T9363 advmod above,provided
R6423 T9385 T9363 prep in,provided
R6424 T9386 T9385 pobj comparison,in
R6425 T9387 T9386 prep to,comparison
R6426 T9388 T9389 amod corresponding,patients
R6427 T9389 T9387 pobj patients,to
R6428 T9390 T9391 advmod homo,hemizygous
R6429 T9391 T9389 amod hemizygous,patients
R6430 T9392 T9391 punct -,hemizygous
R6431 T9393 T9391 cc or,hemizygous
R6432 T9394 T9389 prep with,patients
R6433 T9395 T9396 det the,allele
R6434 T9396 T9394 pobj allele,with
R6435 T9397 T9396 amod same,allele
R6436 T9398 T9396 amod causative,allele
R6437 T9399 T9363 punct .,provided
R6438 T9401 T9402 nsubj Numbers,indicate
R6439 T9403 T9401 prep in,Numbers
R6440 T9404 T9405 det the,schematic
R6441 T9405 T9403 pobj schematic,in
R6442 T9406 T9405 prep of,schematic
R6443 T9407 T9408 det the,protein
R6444 T9408 T9406 pobj protein,of
R6445 T9409 T9410 det the,domains
R6446 T9410 T9402 dobj domains,indicate
R6447 T9411 T9410 compound helicase,domains
R6448 T9412 T9402 punct .,indicate