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PMC:1584416 / 1887-5815 JSONTXT 5 Projects

Annnotations TAB TSV DIC JSON TextAE

Id Subject Object Predicate Lexical cue
T565 13-25 JJ denotes Interallelic
T566 26-41 NN denotes complementation
T568 42-44 VBZ denotes is
T567 45-52 VBN denotes defined
T569 53-55 IN denotes as
T570 56-59 DT denotes the
T571 60-67 NN denotes ability
T572 68-70 IN denotes of
T573 71-74 CD denotes two
T575 75-89 RB denotes differentially
T576 90-97 VBN denotes mutated
T574 98-105 NNS denotes alleles
T577 106-108 TO denotes to
T578 109-117 VB denotes function
T579 118-124 RBR denotes better
T580 125-133 RB denotes together
T581 134-138 IN denotes than
T583 139-145 DT denotes either
T582 146-149 MD denotes can
T584 150-152 IN denotes on
T585 153-156 PRP$ denotes its
T586 157-160 JJ denotes own
T587 160-161 . denotes .
T588 161-308 sentence denotes Despite its near universality in lower organisms [1], its potential to contribute to clinical heterogeneity in human disease is seldom considered.
T589 162-169 IN denotes Despite
T591 170-173 PRP$ denotes its
T593 174-178 JJ denotes near
T592 179-191 NN denotes universality
T594 192-194 IN denotes in
T595 195-200 JJR denotes lower
T596 201-210 NNS denotes organisms
T597 211-212 -LRB- denotes [
T598 212-213 CD denotes 1
T599 213-214 -RRB- denotes ]
T600 214-216 , denotes ,
T601 216-219 PRP$ denotes its
T602 220-229 NN denotes potential
T603 230-232 TO denotes to
T604 233-243 VB denotes contribute
T605 244-246 IN denotes to
T606 247-255 JJ denotes clinical
T607 256-269 NN denotes heterogeneity
T608 270-272 IN denotes in
T609 273-278 JJ denotes human
T610 279-286 NN denotes disease
T611 287-289 VBZ denotes is
T612 290-296 RB denotes seldom
T590 297-307 VBN denotes considered
T613 307-308 . denotes .
T614 308-636 sentence denotes Evidence of interallelic complementation at clinically relevant loci is limited to biochemical and cell-based studies of a handful of metabolic disorders with defects in enzymes including propinyl-CoA carboxylase [2], argininosuccinate lyase [3], galactose-1-phosphate uridylyltransferase [4], and methylmalonyl CoA mutase [5].
T615 309-317 NN denotes Evidence
T617 318-320 IN denotes of
T618 321-333 JJ denotes interallelic
T619 334-349 NN denotes complementation
T620 350-352 IN denotes at
T621 353-363 RB denotes clinically
T622 364-372 JJ denotes relevant
T623 373-377 NNS denotes loci
T624 378-380 VBZ denotes is
T616 381-388 VBN denotes limited
T625 389-391 IN denotes to
T626 392-403 JJ denotes biochemical
T628 404-407 CC denotes and
T629 408-412 NN denotes cell
T631 412-413 HYPH denotes -
T630 413-418 VBN denotes based
T627 419-426 NNS denotes studies
T632 427-429 IN denotes of
T633 430-431 DT denotes a
T634 432-439 NN denotes handful
T635 440-442 IN denotes of
T636 443-452 JJ denotes metabolic
T637 453-462 NNS denotes disorders
T638 463-467 IN denotes with
T639 468-475 NNS denotes defects
T640 476-478 IN denotes in
T641 479-486 NNS denotes enzymes
T642 487-496 VBG denotes including
T643 497-505 NN denotes propinyl
T645 505-506 HYPH denotes -
T644 506-509 NN denotes CoA
T646 510-521 NN denotes carboxylase
T647 522-523 -LRB- denotes [
T648 523-524 CD denotes 2
T649 524-525 -RRB- denotes ]
T650 525-527 , denotes ,
T651 527-544 NN denotes argininosuccinate
T652 545-550 NN denotes lyase
T653 551-552 -LRB- denotes [
T654 552-553 CD denotes 3
T655 553-554 -RRB- denotes ]
T656 554-556 , denotes ,
T657 556-565 NN denotes galactose
T659 565-566 HYPH denotes -
T660 566-567 CD denotes 1
T661 567-568 HYPH denotes -
T658 568-577 NN denotes phosphate
T662 578-597 NN denotes uridylyltransferase
T663 598-599 -LRB- denotes [
T664 599-600 CD denotes 4
T665 600-601 -RRB- denotes ]
T666 601-603 , denotes ,
T667 603-606 CC denotes and
T668 607-620 NN denotes methylmalonyl
T670 621-624 NN denotes CoA
T669 625-631 NN denotes mutase
T671 632-633 -LRB- denotes [
T672 633-634 CD denotes 5
T673 634-635 -RRB- denotes ]
T674 635-636 . denotes .
T675 636-731 sentence denotes Compound heterozygotes are individuals carrying two different mutant alleles of the same gene.
T676 637-645 JJ denotes Compound
T677 646-659 NNS denotes heterozygotes
T678 660-663 VBP denotes are
T679 664-675 NNS denotes individuals
T680 676-684 VBG denotes carrying
T681 685-688 CD denotes two
T683 689-698 JJ denotes different
T684 699-705 JJ denotes mutant
T682 706-713 NNS denotes alleles
T685 714-716 IN denotes of
T686 717-720 DT denotes the
T688 721-725 JJ denotes same
T687 726-730 NN denotes gene
T689 730-731 . denotes .
T690 731-960 sentence denotes In the absence of a dominant (wild-type [wt]) allele, genetic interactions between recessive alleles (referred to here as “biallelic” effects) could result in different phenotypic outcomes including interallelic complementation.
T691 732-734 IN denotes In
T693 735-738 DT denotes the
T694 739-746 NN denotes absence
T695 747-749 IN denotes of
T696 750-751 DT denotes a
T698 752-760 JJ denotes dominant
T699 761-762 -LRB- denotes (
T700 762-766 JJ denotes wild
T702 766-767 HYPH denotes -
T701 767-771 NN denotes type
T703 772-773 -LRB- denotes [
T704 773-775 NN denotes wt
T705 775-776 -RRB- denotes ]
T706 776-777 -RRB- denotes )
T697 778-784 NN denotes allele
T707 784-786 , denotes ,
T708 786-793 JJ denotes genetic
T709 794-806 NNS denotes interactions
T710 807-814 IN denotes between
T711 815-824 JJ denotes recessive
T712 825-832 NNS denotes alleles
T713 833-834 -LRB- denotes (
T714 834-842 VBN denotes referred
T715 843-845 IN denotes to
T716 846-850 RB denotes here
T717 851-853 IN denotes as
T718 854-855 `` denotes “
T719 855-864 JJ denotes biallelic
T721 864-865 '' denotes ”
T720 866-873 NNS denotes effects
T722 873-874 -RRB- denotes )
T723 875-880 MD denotes could
T692 881-887 VB denotes result
T724 888-890 IN denotes in
T725 891-900 JJ denotes different
T727 901-911 JJ denotes phenotypic
T726 912-920 NNS denotes outcomes
T728 921-930 VBG denotes including
T729 931-943 JJ denotes interallelic
T730 944-959 NN denotes complementation
T731 959-960 . denotes .
T732 960-1296 sentence denotes Although amelioration of disease symptoms by interallelic complementation would create an ascertainment bias in the clinic, the lack of evidence concerning interallelic complementation or other biallelic effects in human disease is likely caused by the difficulty in distinguishing such effects from environment and genetic background.
T733 961-969 IN denotes Although
T735 970-982 NN denotes amelioration
T736 983-985 IN denotes of
T737 986-993 NN denotes disease
T738 994-1002 NNS denotes symptoms
T739 1003-1005 IN denotes by
T740 1006-1018 JJ denotes interallelic
T741 1019-1034 NN denotes complementation
T742 1035-1040 MD denotes would
T734 1041-1047 VB denotes create
T744 1048-1050 DT denotes an
T746 1051-1064 NN denotes ascertainment
T745 1065-1069 NN denotes bias
T747 1070-1072 IN denotes in
T748 1073-1076 DT denotes the
T749 1077-1083 NN denotes clinic
T750 1083-1085 , denotes ,
T751 1085-1088 DT denotes the
T752 1089-1093 NN denotes lack
T753 1094-1096 IN denotes of
T754 1097-1105 NN denotes evidence
T755 1106-1116 VBG denotes concerning
T756 1117-1129 JJ denotes interallelic
T757 1130-1145 NN denotes complementation
T758 1146-1148 CC denotes or
T759 1149-1154 JJ denotes other
T761 1155-1164 JJ denotes biallelic
T760 1165-1172 NNS denotes effects
T762 1173-1175 IN denotes in
T763 1176-1181 JJ denotes human
T764 1182-1189 NN denotes disease
T765 1190-1192 VBZ denotes is
T766 1193-1199 RB denotes likely
T743 1200-1206 VBN denotes caused
T767 1207-1209 IN denotes by
T768 1210-1213 DT denotes the
T769 1214-1224 NN denotes difficulty
T770 1225-1227 IN denotes in
T771 1228-1242 VBG denotes distinguishing
T772 1243-1247 JJ denotes such
T773 1248-1255 NNS denotes effects
T774 1256-1260 IN denotes from
T775 1261-1272 NN denotes environment
T776 1273-1276 CC denotes and
T777 1277-1284 JJ denotes genetic
T778 1285-1295 NN denotes background
T779 1295-1296 . denotes .
T780 1296-1597 sentence denotes XPD encodes one of the two helicase components of basal transcription/DNA repair factor IIH (TFIIH), a ten-subunit, multifunctional complex that is essential for multiple processes, including basal transcription initiation and DNA damage repair via the nucleotide excision repair (NER) pathway [6,7].
T781 1297-1300 NN denotes XPD
T782 1301-1308 VBZ denotes encodes
T783 1309-1312 CD denotes one
T784 1313-1315 IN denotes of
T785 1316-1319 DT denotes the
T787 1320-1323 CD denotes two
T788 1324-1332 NN denotes helicase
T786 1333-1343 NNS denotes components
T789 1344-1346 IN denotes of
T790 1347-1352 JJ denotes basal
T792 1353-1366 NN denotes transcription
T793 1366-1367 HYPH denotes /
T794 1367-1370 NN denotes DNA
T795 1371-1377 NN denotes repair
T796 1378-1384 NN denotes factor
T791 1385-1388 NN denotes IIH
T797 1389-1390 -LRB- denotes (
T798 1390-1395 NN denotes TFIIH
T799 1395-1396 -RRB- denotes )
T800 1396-1398 , denotes ,
T801 1398-1399 DT denotes a
T803 1400-1403 CD denotes ten
T805 1403-1404 HYPH denotes -
T804 1404-1411 NN denotes subunit
T806 1411-1413 , denotes ,
T807 1413-1428 JJ denotes multifunctional
T802 1429-1436 NN denotes complex
T808 1437-1441 WDT denotes that
T809 1442-1444 VBZ denotes is
T810 1445-1454 JJ denotes essential
T811 1455-1458 IN denotes for
T812 1459-1467 JJ denotes multiple
T813 1468-1477 NNS denotes processes
T814 1477-1479 , denotes ,
T815 1479-1488 VBG denotes including
T816 1489-1494 JJ denotes basal
T818 1495-1508 NN denotes transcription
T817 1509-1519 NN denotes initiation
T819 1520-1523 CC denotes and
T820 1524-1527 NN denotes DNA
T822 1528-1534 NN denotes damage
T821 1535-1541 NN denotes repair
T823 1542-1545 IN denotes via
T824 1546-1549 DT denotes the
T826 1550-1560 NN denotes nucleotide
T828 1561-1569 NN denotes excision
T827 1570-1576 NN denotes repair
T829 1577-1578 -LRB- denotes (
T830 1578-1581 NN denotes NER
T831 1581-1582 -RRB- denotes )
T825 1583-1590 NN denotes pathway
T832 1591-1592 -LRB- denotes [
T834 1592-1593 CD denotes 6
T835 1593-1594 , denotes ,
T833 1594-1595 CD denotes 7
T836 1595-1596 -RRB- denotes ]
T837 1596-1597 . denotes .
T838 1597-1827 sentence denotes Alterations in XPD resulting in defective TFIIH function are associated with UV-sensitive, multisystem disorders including xeroderma pigmentosum (XP), XP combined with Cockayne syndrome (CS), and trichothiodystrophy (TTD) [8–10].
T839 1598-1609 NNS denotes Alterations
T841 1610-1612 IN denotes in
T842 1613-1616 NN denotes XPD
T843 1617-1626 VBG denotes resulting
T844 1627-1629 IN denotes in
T845 1630-1639 JJ denotes defective
T847 1640-1645 NN denotes TFIIH
T846 1646-1654 NN denotes function
T848 1655-1658 VBP denotes are
T840 1659-1669 VBN denotes associated
T849 1670-1674 IN denotes with
T850 1675-1677 NN denotes UV
T852 1677-1678 HYPH denotes -
T851 1678-1687 JJ denotes sensitive
T854 1687-1689 , denotes ,
T855 1689-1700 JJ denotes multisystem
T853 1701-1710 NNS denotes disorders
T856 1711-1720 VBG denotes including
T857 1721-1730 NN denotes xeroderma
T858 1731-1742 NN denotes pigmentosum
T859 1743-1744 -LRB- denotes (
T860 1744-1746 NN denotes XP
T861 1746-1747 -RRB- denotes )
T862 1747-1749 , denotes ,
T863 1749-1751 NN denotes XP
T864 1752-1760 VBN denotes combined
T865 1761-1765 IN denotes with
T866 1766-1774 NN denotes Cockayne
T867 1775-1783 NN denotes syndrome
T868 1784-1785 -LRB- denotes (
T869 1785-1787 NN denotes CS
T870 1787-1788 -RRB- denotes )
T871 1788-1790 , denotes ,
T872 1790-1793 CC denotes and
T873 1794-1813 NN denotes trichothiodystrophy
T874 1814-1815 -LRB- denotes (
T875 1815-1818 NN denotes TTD
T876 1818-1819 -RRB- denotes )
T877 1820-1821 -LRB- denotes [
T878 1821-1822 CD denotes 8
T879 1822-1823 SYM denotes –
T880 1823-1825 CD denotes 10
T881 1825-1826 -RRB- denotes ]
T882 1826-1827 . denotes .
T883 1827-1939 sentence denotes XP is marked by sun-induced pigmentation anomalies and a greater than 1,000-fold elevation in skin cancer risk.
T884 1828-1830 NN denotes XP
T886 1831-1833 VBZ denotes is
T885 1834-1840 VBN denotes marked
T887 1841-1843 IN denotes by
T888 1844-1847 NN denotes sun
T890 1847-1848 HYPH denotes -
T889 1848-1855 VBN denotes induced
T892 1856-1868 NN denotes pigmentation
T891 1869-1878 NNS denotes anomalies
T893 1879-1882 CC denotes and
T894 1883-1884 DT denotes a
T896 1885-1892 JJR denotes greater
T898 1893-1897 IN denotes than
T897 1898-1903 CD denotes 1,000
T900 1903-1904 HYPH denotes -
T899 1904-1908 RB denotes fold
T895 1909-1918 NN denotes elevation
T901 1919-1921 IN denotes in
T902 1922-1926 NN denotes skin
T903 1927-1933 NN denotes cancer
T904 1934-1938 NN denotes risk
T905 1938-1939 . denotes .
T906 1939-2029 sentence denotes Severe cases can also present with growth retardation and primary neurodegeneration [11].
T907 1940-1946 JJ denotes Severe
T908 1947-1952 NNS denotes cases
T910 1953-1956 MD denotes can
T911 1957-1961 RB denotes also
T909 1962-1969 VB denotes present
T912 1970-1974 IN denotes with
T913 1975-1981 NN denotes growth
T914 1982-1993 NN denotes retardation
T915 1994-1997 CC denotes and
T916 1998-2005 JJ denotes primary
T917 2006-2023 NN denotes neurodegeneration
T918 2024-2025 -LRB- denotes [
T919 2025-2027 CD denotes 11
T920 2027-2028 -RRB- denotes ]
T921 2028-2029 . denotes .
T922 2029-2264 sentence denotes CS and TTD, on the other hand, are segmental progeroid disorders characterised by progressive post-natal growth failure and primary demyelination resulting in severe neurodysfunction, but without a clear cancer predisposition [12–15].
T923 2030-2032 NN denotes CS
T925 2033-2036 CC denotes and
T926 2037-2040 NN denotes TTD
T927 2040-2042 , denotes ,
T928 2042-2044 IN denotes on
T929 2045-2048 DT denotes the
T931 2049-2054 JJ denotes other
T930 2055-2059 NN denotes hand
T932 2059-2061 , denotes ,
T924 2061-2064 VBP denotes are
T933 2065-2074 JJ denotes segmental
T935 2075-2084 JJ denotes progeroid
T934 2085-2094 NNS denotes disorders
T936 2095-2108 VBN denotes characterised
T937 2109-2111 IN denotes by
T938 2112-2123 JJ denotes progressive
T940 2124-2134 JJ denotes post-natal
T941 2135-2141 NN denotes growth
T939 2142-2149 NN denotes failure
T942 2150-2153 CC denotes and
T943 2154-2161 JJ denotes primary
T944 2162-2175 NN denotes demyelination
T945 2176-2185 VBG denotes resulting
T946 2186-2188 IN denotes in
T947 2189-2195 JJ denotes severe
T948 2196-2212 NN denotes neurodysfunction
T949 2212-2214 , denotes ,
T950 2214-2217 CC denotes but
T951 2218-2225 IN denotes without
T952 2226-2227 DT denotes a
T954 2228-2233 JJ denotes clear
T955 2234-2240 NN denotes cancer
T953 2241-2255 NN denotes predisposition
T956 2256-2257 -LRB- denotes [
T957 2257-2259 CD denotes 12
T958 2259-2260 SYM denotes –
T959 2260-2262 CD denotes 15
T960 2262-2263 -RRB- denotes ]
T961 2263-2264 . denotes .
T962 2264-2452 sentence denotes Patients with TTD additionally display hallmark sulphur-deficient brittle hair and nails and scaling skin [13], resulting from a basal transcription defect in specific cell types [16,17].
T963 2265-2273 NNS denotes Patients
T965 2274-2278 IN denotes with
T966 2279-2282 NN denotes TTD
T967 2283-2295 RB denotes additionally
T964 2296-2303 VBP denotes display
T968 2304-2312 NN denotes hallmark
T970 2313-2320 NN denotes sulphur
T972 2320-2321 HYPH denotes -
T971 2321-2330 JJ denotes deficient
T973 2331-2338 JJ denotes brittle
T969 2339-2343 NN denotes hair
T974 2344-2347 CC denotes and
T975 2348-2353 NNS denotes nails
T976 2354-2357 CC denotes and
T977 2358-2365 JJ denotes scaling
T978 2366-2370 NN denotes skin
T979 2371-2372 -LRB- denotes [
T980 2372-2374 CD denotes 13
T981 2374-2375 -RRB- denotes ]
T982 2375-2377 , denotes ,
T983 2377-2386 VBG denotes resulting
T984 2387-2391 IN denotes from
T985 2392-2393 DT denotes a
T987 2394-2399 JJ denotes basal
T988 2400-2413 NN denotes transcription
T986 2414-2420 NN denotes defect
T989 2421-2423 IN denotes in
T990 2424-2432 JJ denotes specific
T992 2433-2437 NN denotes cell
T991 2438-2443 NNS denotes types
T993 2444-2445 -LRB- denotes [
T995 2445-2447 CD denotes 16
T996 2447-2448 , denotes ,
T994 2448-2450 CD denotes 17
T997 2450-2451 -RRB- denotes ]
T998 2451-2452 . denotes .
T999 2452-2618 sentence denotes A related disorder with the cancer predisposition of XP combined with the neurodevelopmental complications of CS (XPCS), although rare, has also been described [18].
T1000 2453-2454 DT denotes A
T1002 2455-2462 JJ denotes related
T1001 2463-2471 NN denotes disorder
T1004 2472-2476 IN denotes with
T1005 2477-2480 DT denotes the
T1007 2481-2487 NN denotes cancer
T1006 2488-2502 NN denotes predisposition
T1008 2503-2505 IN denotes of
T1009 2506-2508 NN denotes XP
T1010 2509-2517 VBN denotes combined
T1011 2518-2522 IN denotes with
T1012 2523-2526 DT denotes the
T1014 2527-2545 JJ denotes neurodevelopmental
T1013 2546-2559 NNS denotes complications
T1015 2560-2562 IN denotes of
T1016 2563-2565 NN denotes CS
T1017 2566-2567 -LRB- denotes (
T1018 2567-2571 NN denotes XPCS
T1019 2571-2572 -RRB- denotes )
T1020 2572-2574 , denotes ,
T1021 2574-2582 IN denotes although
T1022 2583-2587 JJ denotes rare
T1023 2587-2589 , denotes ,
T1024 2589-2592 VBZ denotes has
T1025 2593-2597 RB denotes also
T1026 2598-2602 VBN denotes been
T1003 2603-2612 VBN denotes described
T1027 2613-2614 -LRB- denotes [
T1028 2614-2616 CD denotes 18
T1029 2616-2617 -RRB- denotes ]
T1030 2617-2618 . denotes .
T1031 2618-2800 sentence denotes Many XPD mutations are associated with an exclusive disease phenotype (e.g., XPDR722W with TTD and XPDR683W with XP) and are thus viewed as causative of the corresponding syndromes.
T1032 2619-2623 JJ denotes Many
T1034 2624-2627 NN denotes XPD
T1033 2628-2637 NNS denotes mutations
T1036 2638-2641 VBP denotes are
T1035 2642-2652 VBN denotes associated
T1037 2653-2657 IN denotes with
T1038 2658-2660 DT denotes an
T1040 2661-2670 JJ denotes exclusive
T1041 2671-2678 NN denotes disease
T1039 2679-2688 NN denotes phenotype
T1042 2689-2690 -LRB- denotes (
T1044 2690-2694 FW denotes e.g.
T1045 2694-2696 , denotes ,
T1043 2696-2704 NN denotes XPDR722W
T1046 2705-2709 IN denotes with
T1047 2710-2713 NN denotes TTD
T1048 2714-2717 CC denotes and
T1049 2718-2726 NN denotes XPDR683W
T1050 2727-2731 IN denotes with
T1051 2732-2734 NN denotes XP
T1052 2734-2735 -RRB- denotes )
T1053 2736-2739 CC denotes and
T1054 2740-2743 VBP denotes are
T1056 2744-2748 RB denotes thus
T1055 2749-2755 VBN denotes viewed
T1057 2756-2758 IN denotes as
T1058 2759-2768 JJ denotes causative
T1059 2769-2771 IN denotes of
T1060 2772-2775 DT denotes the
T1062 2776-2789 VBG denotes corresponding
T1061 2790-2799 NNS denotes syndromes
T1063 2799-2800 . denotes .
T1064 2800-2899 sentence denotes Alleles not associated exclusively with one disorder are considered “likely null” alleles [19,20].
T1065 2801-2808 NNS denotes Alleles
T1067 2809-2812 RB denotes not
T1068 2813-2823 VBN denotes associated
T1069 2824-2835 RB denotes exclusively
T1070 2836-2840 IN denotes with
T1071 2841-2844 CD denotes one
T1072 2845-2853 NN denotes disorder
T1073 2854-2857 VBP denotes are
T1066 2858-2868 VBN denotes considered
T1074 2869-2870 `` denotes “
T1076 2870-2876 RB denotes likely
T1077 2877-2881 JJ denotes null
T1078 2881-2882 '' denotes ”
T1075 2883-2890 NNS denotes alleles
T1079 2891-2892 -LRB- denotes [
T1081 2892-2894 CD denotes 19
T1082 2894-2895 , denotes ,
T1080 2895-2897 CD denotes 20
T1083 2897-2898 -RRB- denotes ]
T1084 2898-2899 . denotes .
T1085 2899-3119 sentence denotes Some of these alleles fail to support viability in a haploid Schizosaccharomyces pombe yeast strain with a null mutation in the XPD homologue rad15 and are thus considered devoid of significant biological activity [19].
T1086 2900-2904 DT denotes Some
T1088 2905-2907 IN denotes of
T1089 2908-2913 DT denotes these
T1090 2914-2921 NNS denotes alleles
T1087 2922-2926 VBP denotes fail
T1091 2927-2929 TO denotes to
T1092 2930-2937 VB denotes support
T1093 2938-2947 NN denotes viability
T1094 2948-2950 IN denotes in
T1095 2951-2952 DT denotes a
T1097 2953-2960 JJ denotes haploid
T1098 2961-2980 NNP denotes Schizosaccharomyces
T1099 2981-2986 NNP denotes pombe
T1100 2987-2992 NN denotes yeast
T1096 2993-2999 NN denotes strain
T1101 3000-3004 IN denotes with
T1102 3005-3006 DT denotes a
T1104 3007-3011 JJ denotes null
T1103 3012-3020 NN denotes mutation
T1105 3021-3023 IN denotes in
T1106 3024-3027 DT denotes the
T1108 3028-3031 NN denotes XPD
T1109 3032-3041 NN denotes homologue
T1107 3042-3047 NN denotes rad15
T1110 3048-3051 CC denotes and
T1111 3052-3055 VBP denotes are
T1113 3056-3060 RB denotes thus
T1112 3061-3071 VBN denotes considered
T1114 3072-3078 JJ denotes devoid
T1115 3079-3081 IN denotes of
T1116 3082-3093 JJ denotes significant
T1118 3094-3104 JJ denotes biological
T1117 3105-3113 NN denotes activity
T1119 3114-3115 -LRB- denotes [
T1120 3115-3117 CD denotes 19
T1121 3117-3118 -RRB- denotes ]
T1122 3118-3119 . denotes .
T1123 3119-3257 sentence denotes This classification of alleles as either causative or null currently defines what we refer to as a “monoallelic” paradigm of XPD disease.
T1124 3120-3124 DT denotes This
T1125 3125-3139 NN denotes classification
T1127 3140-3142 IN denotes of
T1128 3143-3150 NNS denotes alleles
T1129 3151-3153 IN denotes as
T1130 3154-3160 CC denotes either
T1131 3161-3170 JJ denotes causative
T1132 3171-3173 CC denotes or
T1133 3174-3178 JJ denotes null
T1134 3179-3188 RB denotes currently
T1126 3189-3196 VBZ denotes defines
T1135 3197-3201 WP denotes what
T1137 3202-3204 PRP denotes we
T1136 3205-3210 VBP denotes refer
T1138 3211-3213 IN denotes to
T1139 3214-3216 IN denotes as
T1140 3217-3218 DT denotes a
T1142 3219-3220 `` denotes “
T1143 3220-3231 JJ denotes monoallelic
T1144 3231-3232 '' denotes ”
T1141 3233-3241 NN denotes paradigm
T1145 3242-3244 IN denotes of
T1146 3245-3248 NN denotes XPD
T1147 3249-3256 NN denotes disease
T1148 3256-3257 . denotes .
T1149 3257-3538 sentence denotes However, the identification in recent years of XP complementation group D patients with atypical disease presentation, including symptoms of both XP and TTD [8], casts doubt on the ability of such a monoallelic paradigm to explain clinical heterogeneity in compound heterozygotes.
T1150 3258-3265 RB denotes However
T1152 3265-3267 , denotes ,
T1153 3267-3270 DT denotes the
T1154 3271-3285 NN denotes identification
T1155 3286-3288 IN denotes in
T1156 3289-3295 JJ denotes recent
T1157 3296-3301 NNS denotes years
T1158 3302-3304 IN denotes of
T1159 3305-3307 NN denotes XP
T1161 3308-3323 NN denotes complementation
T1162 3324-3329 NN denotes group
T1163 3330-3331 NN denotes D
T1160 3332-3340 NNS denotes patients
T1164 3341-3345 IN denotes with
T1165 3346-3354 JJ denotes atypical
T1167 3355-3362 NN denotes disease
T1166 3363-3375 NN denotes presentation
T1168 3375-3377 , denotes ,
T1169 3377-3386 VBG denotes including
T1170 3387-3395 NNS denotes symptoms
T1171 3396-3398 IN denotes of
T1172 3399-3403 CC denotes both
T1173 3404-3406 NN denotes XP
T1174 3407-3410 CC denotes and
T1175 3411-3414 NN denotes TTD
T1176 3415-3416 -LRB- denotes [
T1177 3416-3417 CD denotes 8
T1178 3417-3418 -RRB- denotes ]
T1179 3418-3420 , denotes ,
T1151 3420-3425 VBZ denotes casts
T1180 3426-3431 NN denotes doubt
T1181 3432-3434 IN denotes on
T1182 3435-3438 DT denotes the
T1183 3439-3446 NN denotes ability
T1184 3447-3449 IN denotes of
T1185 3450-3454 JJ denotes such
T1187 3455-3456 DT denotes a
T1188 3457-3468 JJ denotes monoallelic
T1186 3469-3477 NN denotes paradigm
T1189 3478-3480 TO denotes to
T1190 3481-3488 VB denotes explain
T1191 3489-3497 JJ denotes clinical
T1192 3498-3511 NN denotes heterogeneity
T1193 3512-3514 IN denotes in
T1194 3515-3523 NN denotes compound
T1195 3524-3537 NNS denotes heterozygotes
T1196 3537-3538 . denotes .
T1197 3538-3637 sentence denotes Previously, we generated a TTD mouse model (XPDR722W) that phenocopies the human syndrome [15,21].
T1198 3539-3549 RB denotes Previously
T1200 3549-3551 , denotes ,
T1201 3551-3553 PRP denotes we
T1199 3554-3563 VBD denotes generated
T1202 3564-3565 DT denotes a
T1204 3566-3569 NN denotes TTD
T1205 3570-3575 NN denotes mouse
T1203 3576-3581 NN denotes model
T1206 3582-3583 -LRB- denotes (
T1207 3583-3591 NN denotes XPDR722W
T1208 3591-3592 -RRB- denotes )
T1209 3593-3597 WDT denotes that
T1210 3598-3609 VBZ denotes phenocopies
T1211 3610-3613 DT denotes the
T1213 3614-3619 JJ denotes human
T1212 3620-3628 NN denotes syndrome
T1214 3629-3630 -LRB- denotes [
T1216 3630-3632 CD denotes 15
T1217 3632-3633 , denotes ,
T1215 3633-3635 CD denotes 21
T1218 3635-3636 -RRB- denotes ]
T1219 3636-3637 . denotes .
T1220 3637-3928 sentence denotes Here we report the generation of additional mutant Xpd alleles that fail to support viability on their own but nevertheless ameliorate TTD-associated premature segmental ageing, cutaneous features, cellular DNA repair capacity, and UV survival when present in a compound heterozygote state.
T1221 3638-3642 RB denotes Here
T1223 3643-3645 PRP denotes we
T1222 3646-3652 VBP denotes report
T1224 3653-3656 DT denotes the
T1225 3657-3667 NN denotes generation
T1226 3668-3670 IN denotes of
T1227 3671-3681 JJ denotes additional
T1229 3682-3688 JJ denotes mutant
T1230 3689-3692 NN denotes Xpd
T1228 3693-3700 NNS denotes alleles
T1231 3701-3705 WDT denotes that
T1232 3706-3710 VBP denotes fail
T1233 3711-3713 TO denotes to
T1234 3714-3721 VB denotes support
T1235 3722-3731 NN denotes viability
T1236 3732-3734 IN denotes on
T1237 3735-3740 PRP$ denotes their
T1238 3741-3744 NN denotes own
T1239 3745-3748 CC denotes but
T1240 3749-3761 RB denotes nevertheless
T1241 3762-3772 VBP denotes ameliorate
T1242 3773-3776 NN denotes TTD
T1244 3776-3777 HYPH denotes -
T1243 3777-3787 VBN denotes associated
T1246 3788-3797 JJ denotes premature
T1247 3798-3807 JJ denotes segmental
T1245 3808-3814 NN denotes ageing
T1248 3814-3816 , denotes ,
T1249 3816-3825 JJ denotes cutaneous
T1250 3826-3834 NNS denotes features
T1251 3834-3836 , denotes ,
T1252 3836-3844 JJ denotes cellular
T1254 3845-3848 NN denotes DNA
T1255 3849-3855 NN denotes repair
T1253 3856-3864 NN denotes capacity
T1256 3864-3866 , denotes ,
T1257 3866-3869 CC denotes and
T1258 3870-3872 NN denotes UV
T1259 3873-3881 NN denotes survival
T1260 3882-3886 WRB denotes when
T1261 3887-3894 JJ denotes present
T1262 3895-3897 IN denotes in
T1263 3898-3899 DT denotes a
T1265 3900-3908 JJ denotes compound
T1266 3909-3921 NN denotes heterozygote
T1264 3922-3927 NN denotes state
T1267 3927-3928 . denotes .
R246 T565 T566 amod Interallelic,complementation
R247 T566 T567 nsubjpass complementation,defined
R248 T568 T567 auxpass is,defined
R249 T569 T567 prep as,defined
R250 T570 T571 det the,ability
R251 T571 T569 pobj ability,as
R252 T572 T571 prep of,ability
R253 T573 T574 nummod two,alleles
R254 T574 T572 pobj alleles,of
R255 T575 T576 advmod differentially,mutated
R256 T576 T574 amod mutated,alleles
R257 T577 T578 aux to,function
R258 T578 T571 acl function,ability
R259 T579 T578 advmod better,function
R260 T580 T578 advmod together,function
R261 T581 T582 mark than,can
R262 T582 T578 advcl can,function
R263 T583 T582 nsubj either,can
R264 T584 T582 prep on,can
R265 T585 T586 poss its,own
R266 T586 T584 pobj own,on
R267 T587 T567 punct .,defined
R268 T589 T590 prep Despite,considered
R269 T591 T592 poss its,universality
R270 T592 T589 pobj universality,Despite
R271 T593 T592 amod near,universality
R272 T594 T592 prep in,universality
R273 T595 T596 amod lower,organisms
R274 T596 T594 pobj organisms,in
R275 T597 T598 punct [,1
R276 T598 T596 parataxis 1,organisms
R277 T599 T598 punct ],1
R278 T600 T590 punct ", ",considered
R279 T601 T602 poss its,potential
R280 T602 T590 nsubjpass potential,considered
R281 T603 T604 aux to,contribute
R282 T604 T602 acl contribute,potential
R283 T605 T604 prep to,contribute
R284 T606 T607 amod clinical,heterogeneity
R285 T607 T605 pobj heterogeneity,to
R286 T608 T607 prep in,heterogeneity
R287 T609 T610 amod human,disease
R288 T610 T608 pobj disease,in
R289 T611 T590 auxpass is,considered
R290 T612 T590 advmod seldom,considered
R291 T613 T590 punct .,considered
R292 T615 T616 nsubjpass Evidence,limited
R293 T617 T615 prep of,Evidence
R294 T618 T619 amod interallelic,complementation
R295 T619 T617 pobj complementation,of
R296 T620 T619 prep at,complementation
R297 T621 T622 advmod clinically,relevant
R298 T622 T623 amod relevant,loci
R299 T623 T620 pobj loci,at
R300 T624 T616 auxpass is,limited
R301 T625 T616 prep to,limited
R302 T626 T627 amod biochemical,studies
R303 T627 T625 pobj studies,to
R304 T628 T626 cc and,biochemical
R305 T629 T630 npadvmod cell,based
R306 T630 T626 conj based,biochemical
R307 T631 T630 punct -,based
R308 T632 T627 prep of,studies
R309 T633 T634 det a,handful
R310 T634 T632 pobj handful,of
R311 T635 T634 prep of,handful
R312 T636 T637 amod metabolic,disorders
R313 T637 T635 pobj disorders,of
R314 T638 T637 prep with,disorders
R315 T639 T638 pobj defects,with
R316 T640 T639 prep in,defects
R317 T641 T640 pobj enzymes,in
R318 T642 T641 prep including,enzymes
R319 T643 T644 compound propinyl,CoA
R320 T644 T646 compound CoA,carboxylase
R321 T645 T644 punct -,CoA
R322 T646 T642 pobj carboxylase,including
R323 T647 T648 punct [,2
R324 T648 T646 parataxis 2,carboxylase
R325 T649 T648 punct ],2
R326 T650 T646 punct ", ",carboxylase
R327 T651 T652 compound argininosuccinate,lyase
R328 T652 T646 conj lyase,carboxylase
R329 T653 T654 punct [,3
R330 T654 T652 parataxis 3,lyase
R331 T655 T654 punct ],3
R332 T656 T652 punct ", ",lyase
R333 T657 T658 nmod galactose,phosphate
R334 T658 T662 compound phosphate,uridylyltransferase
R335 T659 T658 punct -,phosphate
R336 T660 T658 nummod 1,phosphate
R337 T661 T658 punct -,phosphate
R338 T662 T652 conj uridylyltransferase,lyase
R339 T663 T664 punct [,4
R340 T664 T662 parataxis 4,uridylyltransferase
R341 T665 T664 punct ],4
R342 T666 T662 punct ", ",uridylyltransferase
R343 T667 T662 cc and,uridylyltransferase
R344 T668 T669 compound methylmalonyl,mutase
R345 T669 T662 conj mutase,uridylyltransferase
R346 T670 T669 compound CoA,mutase
R347 T671 T672 punct [,5
R348 T672 T669 parataxis 5,mutase
R349 T673 T672 punct ],5
R350 T674 T616 punct .,limited
R351 T676 T677 amod Compound,heterozygotes
R352 T677 T678 nsubj heterozygotes,are
R353 T679 T678 attr individuals,are
R354 T680 T679 acl carrying,individuals
R355 T681 T682 nummod two,alleles
R356 T682 T680 dobj alleles,carrying
R357 T683 T682 amod different,alleles
R358 T684 T682 amod mutant,alleles
R359 T685 T682 prep of,alleles
R360 T686 T687 det the,gene
R361 T687 T685 pobj gene,of
R362 T688 T687 amod same,gene
R363 T689 T678 punct .,are
R364 T691 T692 prep In,result
R365 T693 T694 det the,absence
R366 T694 T691 pobj absence,In
R367 T695 T694 prep of,absence
R368 T696 T697 det a,allele
R369 T697 T695 pobj allele,of
R370 T698 T697 amod dominant,allele
R371 T699 T697 punct (,allele
R372 T700 T701 amod wild,type
R373 T701 T697 nmod type,allele
R374 T702 T701 punct -,type
R375 T703 T701 punct [,type
R376 T704 T701 appos wt,type
R377 T705 T697 punct ],allele
R378 T706 T697 punct ),allele
R379 T707 T692 punct ", ",result
R380 T708 T709 amod genetic,interactions
R381 T709 T692 nsubj interactions,result
R382 T710 T709 prep between,interactions
R383 T711 T712 amod recessive,alleles
R384 T712 T710 pobj alleles,between
R385 T713 T709 punct (,interactions
R386 T714 T709 acl referred,interactions
R387 T715 T714 prep to,referred
R388 T716 T714 advmod here,referred
R389 T717 T714 prep as,referred
R390 T718 T717 punct “,as
R391 T719 T720 amod biallelic,effects
R392 T720 T717 pobj effects,as
R393 T721 T720 punct ”,effects
R394 T722 T692 punct ),result
R395 T723 T692 aux could,result
R396 T724 T692 prep in,result
R397 T725 T726 amod different,outcomes
R398 T726 T724 pobj outcomes,in
R399 T727 T726 amod phenotypic,outcomes
R400 T728 T726 prep including,outcomes
R401 T729 T730 amod interallelic,complementation
R402 T730 T728 pobj complementation,including
R403 T731 T692 punct .,result
R404 T733 T734 mark Although,create
R405 T734 T743 advcl create,caused
R406 T735 T734 nsubj amelioration,create
R407 T736 T735 prep of,amelioration
R408 T737 T738 compound disease,symptoms
R409 T738 T736 pobj symptoms,of
R410 T739 T735 prep by,amelioration
R411 T740 T741 amod interallelic,complementation
R412 T741 T739 pobj complementation,by
R413 T742 T734 aux would,create
R414 T744 T745 det an,bias
R415 T745 T734 dobj bias,create
R416 T746 T745 compound ascertainment,bias
R417 T747 T734 prep in,create
R418 T748 T749 det the,clinic
R419 T749 T747 pobj clinic,in
R420 T750 T743 punct ", ",caused
R421 T751 T752 det the,lack
R422 T752 T743 nsubjpass lack,caused
R423 T753 T752 prep of,lack
R424 T754 T753 pobj evidence,of
R425 T755 T754 prep concerning,evidence
R426 T756 T757 amod interallelic,complementation
R427 T757 T755 pobj complementation,concerning
R428 T758 T757 cc or,complementation
R429 T759 T760 amod other,effects
R430 T760 T757 conj effects,complementation
R431 T761 T760 amod biallelic,effects
R432 T762 T757 prep in,complementation
R433 T763 T764 amod human,disease
R434 T764 T762 pobj disease,in
R435 T765 T743 auxpass is,caused
R436 T766 T743 advmod likely,caused
R437 T767 T743 agent by,caused
R438 T768 T769 det the,difficulty
R439 T769 T767 pobj difficulty,by
R440 T770 T769 prep in,difficulty
R441 T771 T770 pcomp distinguishing,in
R442 T772 T773 amod such,effects
R443 T773 T771 dobj effects,distinguishing
R444 T774 T771 prep from,distinguishing
R445 T775 T774 pobj environment,from
R446 T776 T775 cc and,environment
R447 T777 T778 amod genetic,background
R448 T778 T775 conj background,environment
R449 T779 T743 punct .,caused
R450 T781 T782 nsubj XPD,encodes
R451 T783 T782 dobj one,encodes
R452 T784 T783 prep of,one
R453 T785 T786 det the,components
R454 T786 T784 pobj components,of
R455 T787 T786 nummod two,components
R456 T788 T786 compound helicase,components
R457 T789 T786 prep of,components
R458 T790 T791 amod basal,IIH
R459 T791 T789 pobj IIH,of
R460 T792 T791 nmod transcription,IIH
R461 T793 T792 punct /,transcription
R462 T794 T795 compound DNA,repair
R463 T795 T792 appos repair,transcription
R464 T796 T791 compound factor,IIH
R465 T797 T791 punct (,IIH
R466 T798 T791 appos TFIIH,IIH
R467 T799 T783 punct ),one
R468 T800 T783 punct ", ",one
R469 T801 T802 det a,complex
R470 T802 T783 appos complex,one
R471 T803 T804 nummod ten,subunit
R472 T804 T802 nmod subunit,complex
R473 T805 T804 punct -,subunit
R474 T806 T802 punct ", ",complex
R475 T807 T802 amod multifunctional,complex
R476 T808 T809 dep that,is
R477 T809 T802 relcl is,complex
R478 T810 T809 acomp essential,is
R479 T811 T810 prep for,essential
R480 T812 T813 amod multiple,processes
R481 T813 T811 pobj processes,for
R482 T814 T813 punct ", ",processes
R483 T815 T813 prep including,processes
R484 T816 T817 amod basal,initiation
R485 T817 T815 pobj initiation,including
R486 T818 T817 compound transcription,initiation
R487 T819 T817 cc and,initiation
R488 T820 T821 compound DNA,repair
R489 T821 T817 conj repair,initiation
R490 T822 T821 compound damage,repair
R491 T823 T821 prep via,repair
R492 T824 T825 det the,pathway
R493 T825 T823 pobj pathway,via
R494 T826 T827 nmod nucleotide,repair
R495 T827 T825 nmod repair,pathway
R496 T828 T827 nmod excision,repair
R497 T829 T827 punct (,repair
R498 T830 T827 appos NER,repair
R499 T831 T825 punct ),pathway
R500 T832 T833 punct [,7
R501 T833 T783 parataxis 7,one
R502 T834 T833 nummod 6,7
R503 T835 T833 punct ",",7
R504 T836 T833 punct ],7
R505 T837 T782 punct .,encodes
R506 T839 T840 nsubjpass Alterations,associated
R507 T841 T839 prep in,Alterations
R508 T842 T841 pobj XPD,in
R509 T843 T839 acl resulting,Alterations
R510 T844 T843 prep in,resulting
R511 T845 T846 amod defective,function
R512 T846 T844 pobj function,in
R513 T847 T846 compound TFIIH,function
R514 T848 T840 auxpass are,associated
R515 T849 T840 prep with,associated
R516 T850 T851 npadvmod UV,sensitive
R517 T851 T853 amod sensitive,disorders
R518 T852 T851 punct -,sensitive
R519 T853 T849 pobj disorders,with
R520 T854 T853 punct ", ",disorders
R521 T855 T853 amod multisystem,disorders
R522 T856 T853 prep including,disorders
R523 T857 T858 compound xeroderma,pigmentosum
R524 T858 T856 pobj pigmentosum,including
R525 T859 T858 punct (,pigmentosum
R526 T860 T858 appos XP,pigmentosum
R527 T861 T858 punct ),pigmentosum
R528 T862 T858 punct ", ",pigmentosum
R529 T863 T858 conj XP,pigmentosum
R530 T864 T863 acl combined,XP
R531 T865 T864 prep with,combined
R532 T866 T867 compound Cockayne,syndrome
R533 T867 T865 pobj syndrome,with
R534 T868 T867 punct (,syndrome
R535 T869 T867 appos CS,syndrome
R536 T870 T863 punct ),XP
R537 T871 T863 punct ", ",XP
R538 T872 T863 cc and,XP
R539 T873 T863 conj trichothiodystrophy,XP
R540 T874 T873 punct (,trichothiodystrophy
R541 T875 T873 appos TTD,trichothiodystrophy
R542 T876 T840 punct ),associated
R543 T877 T878 punct [,8
R544 T878 T840 parataxis 8,associated
R545 T879 T880 punct –,10
R546 T880 T878 prep 10,8
R547 T881 T878 punct ],8
R548 T882 T840 punct .,associated
R549 T884 T885 nsubjpass XP,marked
R550 T886 T885 auxpass is,marked
R551 T887 T885 agent by,marked
R552 T888 T889 npadvmod sun,induced
R553 T889 T891 amod induced,anomalies
R554 T890 T889 punct -,induced
R555 T891 T887 pobj anomalies,by
R556 T892 T891 compound pigmentation,anomalies
R557 T893 T891 cc and,anomalies
R558 T894 T895 det a,elevation
R559 T895 T891 conj elevation,anomalies
R560 T896 T897 amod greater,"1,000"
R561 T897 T899 quantmod "1,000",fold
R562 T898 T897 quantmod than,"1,000"
R563 T899 T895 nummod fold,elevation
R564 T900 T899 punct -,fold
R565 T901 T895 prep in,elevation
R566 T902 T903 compound skin,cancer
R567 T903 T904 compound cancer,risk
R568 T904 T901 pobj risk,in
R569 T905 T885 punct .,marked
R570 T907 T908 amod Severe,cases
R571 T908 T909 nsubj cases,present
R572 T910 T909 aux can,present
R573 T911 T909 advmod also,present
R574 T912 T909 prep with,present
R575 T913 T914 compound growth,retardation
R576 T914 T912 pobj retardation,with
R577 T915 T914 cc and,retardation
R578 T916 T917 amod primary,neurodegeneration
R579 T917 T914 conj neurodegeneration,retardation
R580 T918 T919 punct [,11
R581 T919 T909 parataxis 11,present
R582 T920 T919 punct ],11
R583 T921 T909 punct .,present
R584 T923 T924 nsubj CS,are
R585 T925 T923 cc and,CS
R586 T926 T923 conj TTD,CS
R587 T927 T924 punct ", ",are
R588 T928 T924 prep on,are
R589 T929 T930 det the,hand
R590 T930 T928 pobj hand,on
R591 T931 T930 amod other,hand
R592 T932 T924 punct ", ",are
R593 T933 T934 amod segmental,disorders
R594 T934 T924 attr disorders,are
R595 T935 T934 amod progeroid,disorders
R596 T936 T934 acl characterised,disorders
R597 T937 T936 agent by,characterised
R598 T938 T939 amod progressive,failure
R599 T939 T937 pobj failure,by
R600 T940 T939 amod post-natal,failure
R601 T941 T939 compound growth,failure
R602 T942 T939 cc and,failure
R603 T943 T944 amod primary,demyelination
R604 T944 T939 conj demyelination,failure
R605 T945 T944 acl resulting,demyelination
R606 T946 T945 prep in,resulting
R607 T947 T948 amod severe,neurodysfunction
R608 T948 T946 pobj neurodysfunction,in
R609 T949 T924 punct ", ",are
R610 T950 T951 cc but,without
R611 T951 T924 prep without,are
R612 T952 T953 det a,predisposition
R613 T953 T951 pobj predisposition,without
R614 T954 T953 amod clear,predisposition
R615 T955 T953 compound cancer,predisposition
R616 T956 T957 punct [,12
R617 T957 T924 parataxis 12,are
R618 T958 T959 punct –,15
R619 T959 T957 prep 15,12
R620 T960 T957 punct ],12
R621 T961 T924 punct .,are
R622 T963 T964 nsubj Patients,display
R623 T965 T963 prep with,Patients
R624 T966 T965 pobj TTD,with
R625 T967 T964 advmod additionally,display
R626 T968 T969 nmod hallmark,hair
R627 T969 T964 dobj hair,display
R628 T970 T971 npadvmod sulphur,deficient
R629 T971 T969 amod deficient,hair
R630 T972 T971 punct -,deficient
R631 T973 T969 amod brittle,hair
R632 T974 T969 cc and,hair
R633 T975 T969 conj nails,hair
R634 T976 T969 cc and,hair
R635 T977 T978 amod scaling,skin
R636 T978 T969 conj skin,hair
R637 T979 T980 punct [,13
R638 T980 T969 parataxis 13,hair
R639 T981 T980 punct ],13
R640 T982 T969 punct ", ",hair
R641 T983 T969 acl resulting,hair
R642 T984 T983 prep from,resulting
R643 T985 T986 det a,defect
R644 T986 T984 pobj defect,from
R645 T987 T986 amod basal,defect
R646 T988 T986 compound transcription,defect
R647 T989 T986 prep in,defect
R648 T990 T991 amod specific,types
R649 T991 T989 pobj types,in
R650 T992 T991 compound cell,types
R651 T993 T994 punct [,17
R652 T994 T964 parataxis 17,display
R653 T995 T994 nummod 16,17
R654 T996 T994 punct ",",17
R655 T997 T994 punct ],17
R656 T998 T964 punct .,display
R657 T1000 T1001 det A,disorder
R658 T1001 T1003 nsubjpass disorder,described
R659 T1002 T1001 amod related,disorder
R660 T1004 T1001 prep with,disorder
R661 T1005 T1006 det the,predisposition
R662 T1006 T1004 pobj predisposition,with
R663 T1007 T1006 compound cancer,predisposition
R664 T1008 T1006 prep of,predisposition
R665 T1009 T1008 pobj XP,of
R666 T1010 T1006 acl combined,predisposition
R667 T1011 T1010 prep with,combined
R668 T1012 T1013 det the,complications
R669 T1013 T1011 pobj complications,with
R670 T1014 T1013 amod neurodevelopmental,complications
R671 T1015 T1013 prep of,complications
R672 T1016 T1015 pobj CS,of
R673 T1017 T1018 punct (,XPCS
R674 T1018 T1016 parataxis XPCS,CS
R675 T1019 T1018 punct ),XPCS
R676 T1020 T1003 punct ", ",described
R677 T1021 T1022 mark although,rare
R678 T1022 T1003 advcl rare,described
R679 T1023 T1003 punct ", ",described
R680 T1024 T1003 aux has,described
R681 T1025 T1003 advmod also,described
R682 T1026 T1003 auxpass been,described
R683 T1027 T1028 punct [,18
R684 T1028 T1003 parataxis 18,described
R685 T1029 T1028 punct ],18
R686 T1030 T1003 punct .,described
R687 T1032 T1033 amod Many,mutations
R688 T1033 T1035 nsubjpass mutations,associated
R689 T1034 T1033 compound XPD,mutations
R690 T1036 T1035 auxpass are,associated
R691 T1037 T1035 prep with,associated
R692 T1038 T1039 det an,phenotype
R693 T1039 T1037 pobj phenotype,with
R694 T1040 T1039 amod exclusive,phenotype
R695 T1041 T1039 compound disease,phenotype
R696 T1042 T1043 punct (,XPDR722W
R697 T1043 T1039 parataxis XPDR722W,phenotype
R698 T1044 T1043 advmod e.g.,XPDR722W
R699 T1045 T1043 punct ", ",XPDR722W
R700 T1046 T1043 prep with,XPDR722W
R701 T1047 T1046 pobj TTD,with
R702 T1048 T1043 cc and,XPDR722W
R703 T1049 T1043 conj XPDR683W,XPDR722W
R704 T1050 T1049 prep with,XPDR683W
R705 T1051 T1050 pobj XP,with
R706 T1052 T1043 punct ),XPDR722W
R707 T1053 T1035 cc and,associated
R708 T1054 T1055 auxpass are,viewed
R709 T1055 T1035 conj viewed,associated
R710 T1056 T1055 advmod thus,viewed
R711 T1057 T1055 prep as,viewed
R712 T1058 T1057 pobj causative,as
R713 T1059 T1058 prep of,causative
R714 T1060 T1061 det the,syndromes
R715 T1061 T1059 pobj syndromes,of
R716 T1062 T1061 amod corresponding,syndromes
R717 T1063 T1035 punct .,associated
R718 T1065 T1066 nsubjpass Alleles,considered
R719 T1067 T1068 neg not,associated
R720 T1068 T1065 acl associated,Alleles
R721 T1069 T1068 advmod exclusively,associated
R722 T1070 T1068 prep with,associated
R723 T1071 T1072 nummod one,disorder
R724 T1072 T1070 pobj disorder,with
R725 T1073 T1066 auxpass are,considered
R726 T1074 T1075 punct “,alleles
R727 T1075 T1066 oprd alleles,considered
R728 T1076 T1077 advmod likely,null
R729 T1077 T1075 amod null,alleles
R730 T1078 T1075 punct ”,alleles
R731 T1079 T1080 punct [,20
R732 T1080 T1066 parataxis 20,considered
R733 T1081 T1080 nummod 19,20
R734 T1082 T1080 punct ",",20
R735 T1083 T1080 punct ],20
R736 T1084 T1066 punct .,considered
R737 T1086 T1087 nsubj Some,fail
R738 T1088 T1086 prep of,Some
R739 T1089 T1090 det these,alleles
R740 T1090 T1088 pobj alleles,of
R741 T1091 T1092 aux to,support
R742 T1092 T1087 xcomp support,fail
R743 T1093 T1092 dobj viability,support
R744 T1094 T1092 prep in,support
R745 T1095 T1096 det a,strain
R746 T1096 T1094 pobj strain,in
R747 T1097 T1096 amod haploid,strain
R748 T1098 T1096 compound Schizosaccharomyces,strain
R749 T1099 T1096 compound pombe,strain
R750 T1100 T1096 compound yeast,strain
R751 T1101 T1096 prep with,strain
R752 T1102 T1103 det a,mutation
R753 T1103 T1101 pobj mutation,with
R754 T1104 T1103 amod null,mutation
R755 T1105 T1103 prep in,mutation
R756 T1106 T1107 det the,rad15
R757 T1107 T1105 pobj rad15,in
R758 T1108 T1107 compound XPD,rad15
R759 T1109 T1107 compound homologue,rad15
R760 T1110 T1087 cc and,fail
R761 T1111 T1112 auxpass are,considered
R762 T1112 T1087 conj considered,fail
R763 T1113 T1112 advmod thus,considered
R764 T1114 T1112 oprd devoid,considered
R765 T1115 T1114 prep of,devoid
R766 T1116 T1117 amod significant,activity
R767 T1117 T1115 pobj activity,of
R768 T1118 T1117 amod biological,activity
R769 T1119 T1120 punct [,19
R770 T1120 T1112 parataxis 19,considered
R771 T1121 T1120 punct ],19
R772 T1122 T1087 punct .,fail
R773 T1124 T1125 det This,classification
R774 T1125 T1126 nsubj classification,defines
R775 T1127 T1125 prep of,classification
R776 T1128 T1127 pobj alleles,of
R777 T1129 T1125 prep as,classification
R778 T1130 T1131 preconj either,causative
R779 T1131 T1129 amod causative,as
R780 T1132 T1131 cc or,causative
R781 T1133 T1131 conj null,causative
R782 T1134 T1126 advmod currently,defines
R783 T1135 T1136 dep what,refer
R784 T1136 T1126 ccomp refer,defines
R785 T1137 T1136 nsubj we,refer
R786 T1138 T1136 prep to,refer
R787 T1139 T1136 prep as,refer
R788 T1140 T1141 det a,paradigm
R789 T1141 T1139 pobj paradigm,as
R790 T1142 T1141 punct “,paradigm
R791 T1143 T1141 amod monoallelic,paradigm
R792 T1144 T1141 punct ”,paradigm
R793 T1145 T1141 prep of,paradigm
R794 T1146 T1147 compound XPD,disease
R795 T1147 T1145 pobj disease,of
R796 T1148 T1126 punct .,defines
R797 T1150 T1151 advmod However,casts
R798 T1152 T1151 punct ", ",casts
R799 T1153 T1154 det the,identification
R800 T1154 T1151 nsubj identification,casts
R801 T1155 T1154 prep in,identification
R802 T1156 T1157 amod recent,years
R803 T1157 T1155 pobj years,in
R804 T1158 T1157 prep of,years
R805 T1159 T1160 compound XP,patients
R806 T1160 T1158 pobj patients,of
R807 T1161 T1160 compound complementation,patients
R808 T1162 T1163 compound group,D
R809 T1163 T1160 compound D,patients
R810 T1164 T1160 prep with,patients
R811 T1165 T1166 amod atypical,presentation
R812 T1166 T1164 pobj presentation,with
R813 T1167 T1166 compound disease,presentation
R814 T1168 T1166 punct ", ",presentation
R815 T1169 T1166 prep including,presentation
R816 T1170 T1169 pobj symptoms,including
R817 T1171 T1170 prep of,symptoms
R818 T1172 T1173 preconj both,XP
R819 T1173 T1171 pobj XP,of
R820 T1174 T1173 cc and,XP
R821 T1175 T1173 conj TTD,XP
R822 T1176 T1177 punct [,8
R823 T1177 T1154 parataxis 8,identification
R824 T1178 T1177 punct ],8
R825 T1179 T1151 punct ", ",casts
R826 T1180 T1151 dobj doubt,casts
R827 T1181 T1151 prep on,casts
R828 T1182 T1183 det the,ability
R829 T1183 T1181 pobj ability,on
R830 T1184 T1183 prep of,ability
R831 T1185 T1186 amod such,paradigm
R832 T1186 T1184 pobj paradigm,of
R833 T1187 T1186 det a,paradigm
R834 T1188 T1186 amod monoallelic,paradigm
R835 T1189 T1190 aux to,explain
R836 T1190 T1183 acl explain,ability
R837 T1191 T1192 amod clinical,heterogeneity
R838 T1192 T1190 dobj heterogeneity,explain
R839 T1193 T1190 prep in,explain
R840 T1194 T1195 compound compound,heterozygotes
R841 T1195 T1193 pobj heterozygotes,in
R842 T1196 T1151 punct .,casts
R843 T1198 T1199 advmod Previously,generated
R844 T1200 T1199 punct ", ",generated
R845 T1201 T1199 nsubj we,generated
R846 T1202 T1203 det a,model
R847 T1203 T1199 dobj model,generated
R848 T1204 T1203 compound TTD,model
R849 T1205 T1203 compound mouse,model
R850 T1206 T1207 punct (,XPDR722W
R851 T1207 T1203 parataxis XPDR722W,model
R852 T1208 T1207 punct ),XPDR722W
R853 T1209 T1210 dep that,phenocopies
R854 T1210 T1203 relcl phenocopies,model
R855 T1211 T1212 det the,syndrome
R856 T1212 T1210 dobj syndrome,phenocopies
R857 T1213 T1212 amod human,syndrome
R858 T1214 T1215 punct [,21
R859 T1215 T1199 parataxis 21,generated
R860 T1216 T1215 nummod 15,21
R861 T1217 T1215 punct ",",21
R862 T1218 T1215 punct ],21
R863 T1219 T1199 punct .,generated
R864 T1221 T1222 advmod Here,report
R865 T1223 T1222 nsubj we,report
R866 T1224 T1225 det the,generation
R867 T1225 T1222 dobj generation,report
R868 T1226 T1225 prep of,generation
R869 T1227 T1228 amod additional,alleles
R870 T1228 T1226 pobj alleles,of
R871 T1229 T1228 amod mutant,alleles
R872 T1230 T1228 compound Xpd,alleles
R873 T1231 T1232 dep that,fail
R874 T1232 T1228 relcl fail,alleles
R875 T1233 T1234 aux to,support
R876 T1234 T1232 xcomp support,fail
R877 T1235 T1234 dobj viability,support
R878 T1236 T1234 prep on,support
R879 T1237 T1238 poss their,own
R880 T1238 T1236 pobj own,on
R881 T1239 T1232 cc but,fail
R882 T1240 T1241 advmod nevertheless,ameliorate
R883 T1241 T1232 conj ameliorate,fail
R884 T1242 T1243 npadvmod TTD,associated
R885 T1243 T1245 amod associated,ageing
R886 T1244 T1243 punct -,associated
R887 T1245 T1241 dobj ageing,ameliorate
R888 T1246 T1245 amod premature,ageing
R889 T1247 T1245 amod segmental,ageing
R890 T1248 T1245 punct ", ",ageing
R891 T1249 T1250 amod cutaneous,features
R892 T1250 T1245 conj features,ageing
R893 T1251 T1250 punct ", ",features
R894 T1252 T1253 amod cellular,capacity
R895 T1253 T1250 conj capacity,features
R896 T1254 T1255 compound DNA,repair
R897 T1255 T1253 compound repair,capacity
R898 T1256 T1253 punct ", ",capacity
R899 T1257 T1253 cc and,capacity
R900 T1258 T1259 compound UV,survival
R901 T1259 T1253 conj survival,capacity
R902 T1260 T1261 advmod when,present
R903 T1261 T1241 advcl present,ameliorate
R904 T1262 T1261 prep in,present
R905 T1263 T1264 det a,state
R906 T1264 T1262 pobj state,in
R907 T1265 T1264 amod compound,state
R908 T1266 T1264 compound heterozygote,state
R909 T1267 T1222 punct .,report