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PMC:1584416 / 24239-33966 JSONTXT 5 Projects

Annnotations TAB TSV DIC JSON TextAE

Id Subject Object Predicate Lexical cue
T4259 12-22 NN denotes Dissection
T4260 23-25 IN denotes of
T4261 26-35 JJ denotes Biallelic
T4262 36-43 NNS denotes Effects
T4263 44-48 IN denotes from
T4264 49-54 JJ denotes other
T4265 55-67 NNS denotes Determinants
T4266 68-70 IN denotes of
T4267 71-80 NN denotes Phenotype
T4268 80-372 sentence denotes Although phenotypic consequences, referred to here as biallelic effects, resulting from two different mutant alleles in compound heterozygote patients have been postulated, such effects have historically been difficult to distinguish from the influence of environment and genetic background.
T4269 81-89 IN denotes Although
T4271 90-100 JJ denotes phenotypic
T4272 101-113 NNS denotes consequences
T4273 113-115 , denotes ,
T4274 115-123 VBN denotes referred
T4275 124-126 IN denotes to
T4276 127-131 RB denotes here
T4277 132-134 IN denotes as
T4278 135-144 JJ denotes biallelic
T4279 145-152 NNS denotes effects
T4280 152-154 , denotes ,
T4281 154-163 VBG denotes resulting
T4282 164-168 IN denotes from
T4283 169-172 CD denotes two
T4285 173-182 JJ denotes different
T4286 183-189 JJ denotes mutant
T4284 190-197 NNS denotes alleles
T4287 198-200 IN denotes in
T4288 201-209 NN denotes compound
T4290 210-222 NN denotes heterozygote
T4289 223-231 NNS denotes patients
T4291 232-236 VBP denotes have
T4292 237-241 VBN denotes been
T4270 242-252 VBN denotes postulated
T4294 252-254 , denotes ,
T4295 254-258 JJ denotes such
T4296 259-266 NNS denotes effects
T4297 267-271 VBP denotes have
T4298 272-284 RB denotes historically
T4293 285-289 VBN denotes been
T4299 290-299 JJ denotes difficult
T4300 300-302 TO denotes to
T4301 303-314 VB denotes distinguish
T4302 315-319 IN denotes from
T4303 320-323 DT denotes the
T4304 324-333 NN denotes influence
T4305 334-336 IN denotes of
T4306 337-348 NN denotes environment
T4307 349-352 CC denotes and
T4308 353-360 JJ denotes genetic
T4309 361-371 NN denotes background
T4310 371-372 . denotes .
T4311 372-577 sentence denotes We used a genetically defined mammalian model system under controlled environmental conditions to reveal phenotypic effects attributable specifically to combinations of differentially mutated Xpd alleles.
T4312 373-375 PRP denotes We
T4313 376-380 VBD denotes used
T4314 381-382 DT denotes a
T4316 383-394 RB denotes genetically
T4317 395-402 VBN denotes defined
T4318 403-412 JJ denotes mammalian
T4319 413-418 NN denotes model
T4315 419-425 NN denotes system
T4320 426-431 IN denotes under
T4321 432-442 JJ denotes controlled
T4323 443-456 JJ denotes environmental
T4322 457-467 NNS denotes conditions
T4324 468-470 TO denotes to
T4325 471-477 VB denotes reveal
T4326 478-488 JJ denotes phenotypic
T4327 489-496 NNS denotes effects
T4328 497-509 JJ denotes attributable
T4329 510-522 RB denotes specifically
T4330 523-525 IN denotes to
T4331 526-538 NNS denotes combinations
T4332 539-541 IN denotes of
T4333 542-556 RB denotes differentially
T4334 557-564 VBN denotes mutated
T4336 565-568 NN denotes Xpd
T4335 569-576 NNS denotes alleles
T4337 576-577 . denotes .
T4338 577-637 sentence denotes The observed biallelic effects were of three general types.
T4339 578-581 DT denotes The
T4341 582-590 VBN denotes observed
T4342 591-600 JJ denotes biallelic
T4340 601-608 NNS denotes effects
T4343 609-613 VBD denotes were
T4344 614-616 IN denotes of
T4345 617-622 CD denotes three
T4347 623-630 JJ denotes general
T4346 631-636 NNS denotes types
T4348 636-637 . denotes .
T4349 637-825 sentence denotes In the first, the allele associated in a homozygous state with a phenotype closer to wt singularly determined the phenotypic outcome, a phenomenon widely known in human recessive disease.
T4350 638-640 IN denotes In
T4352 641-644 DT denotes the
T4353 645-650 JJ denotes first
T4354 650-652 , denotes ,
T4355 652-655 DT denotes the
T4356 656-662 NN denotes allele
T4357 663-673 VBN denotes associated
T4358 674-676 IN denotes in
T4359 677-678 DT denotes a
T4361 679-689 JJ denotes homozygous
T4360 690-695 NN denotes state
T4362 696-700 IN denotes with
T4363 701-702 DT denotes a
T4364 703-712 NN denotes phenotype
T4365 713-719 RBR denotes closer
T4366 720-722 IN denotes to
T4367 723-725 NN denotes wt
T4368 726-736 RB denotes singularly
T4351 737-747 VBN denotes determined
T4369 748-751 DT denotes the
T4371 752-762 JJ denotes phenotypic
T4370 763-770 NN denotes outcome
T4372 770-772 , denotes ,
T4373 772-773 DT denotes a
T4374 774-784 NN denotes phenomenon
T4375 785-791 RB denotes widely
T4376 792-797 VBN denotes known
T4377 798-800 IN denotes in
T4378 801-806 JJ denotes human
T4380 807-816 JJ denotes recessive
T4379 817-824 NN denotes disease
T4381 824-825 . denotes .
T4382 825-956 sentence denotes Because these Xpd alleles functioned at or near wt levels with respect to a particular function, we call these effects “dominant”.
T4383 826-833 IN denotes Because
T4385 834-839 DT denotes these
T4387 840-843 NN denotes Xpd
T4386 844-851 NNS denotes alleles
T4384 852-862 VBD denotes functioned
T4389 863-865 IN denotes at
T4390 866-868 CC denotes or
T4391 869-873 IN denotes near
T4392 874-876 NN denotes wt
T4393 877-883 NNS denotes levels
T4394 884-888 IN denotes with
T4395 889-896 NN denotes respect
T4396 897-899 IN denotes to
T4397 900-901 DT denotes a
T4399 902-912 JJ denotes particular
T4398 913-921 NN denotes function
T4400 921-923 , denotes ,
T4401 923-925 PRP denotes we
T4388 926-930 VBP denotes call
T4402 931-936 DT denotes these
T4403 937-944 NNS denotes effects
T4404 945-946 `` denotes “
T4405 946-954 JJ denotes dominant
T4406 954-955 '' denotes ”
T4407 955-956 . denotes .
T4408 956-1125 sentence denotes Such alleles can also be referred to as “separation of function” alleles, because they allow dissection of the roles of multifunctional proteins in specific phenotypes.
T4409 957-961 JJ denotes Such
T4410 962-969 NNS denotes alleles
T4412 970-973 MD denotes can
T4413 974-978 RB denotes also
T4414 979-981 VB denotes be
T4411 982-990 VBN denotes referred
T4415 991-993 IN denotes to
T4416 994-996 IN denotes as
T4417 997-998 `` denotes “
T4419 998-1008 NN denotes separation
T4420 1009-1011 IN denotes of
T4421 1012-1020 NN denotes function
T4422 1020-1021 '' denotes ”
T4418 1022-1029 NNS denotes alleles
T4423 1029-1031 , denotes ,
T4424 1031-1038 IN denotes because
T4426 1039-1043 PRP denotes they
T4425 1044-1049 VBP denotes allow
T4427 1050-1060 NN denotes dissection
T4428 1061-1063 IN denotes of
T4429 1064-1067 DT denotes the
T4430 1068-1073 NNS denotes roles
T4431 1074-1076 IN denotes of
T4432 1077-1092 JJ denotes multifunctional
T4433 1093-1101 NN denotes proteins
T4434 1102-1104 IN denotes in
T4435 1105-1113 JJ denotes specific
T4436 1114-1124 NNS denotes phenotypes
T4437 1124-1125 . denotes .
T4438 1125-1502 sentence denotes Secondly, highlighting the potential relevance of current findings to all diploid organisms including humans was the observation that in one compound heterozygous animal, the Xpd allelic relationship could shift from A dominant |a recessive to A recessive |a dominant with respect to different phenotypes in a time-dependent and tissue-specific manner (see below and Table 2).
T4439 1126-1134 RB denotes Secondly
T4441 1134-1136 , denotes ,
T4442 1136-1148 VBG denotes highlighting
T4443 1149-1152 DT denotes the
T4445 1153-1162 JJ denotes potential
T4444 1163-1172 NN denotes relevance
T4446 1173-1175 IN denotes of
T4447 1176-1183 JJ denotes current
T4448 1184-1192 NNS denotes findings
T4449 1193-1195 IN denotes to
T4450 1196-1199 DT denotes all
T4452 1200-1207 JJ denotes diploid
T4451 1208-1217 NNS denotes organisms
T4453 1218-1227 VBG denotes including
T4454 1228-1234 NNS denotes humans
T4440 1235-1238 VBD denotes was
T4455 1239-1242 DT denotes the
T4456 1243-1254 NN denotes observation
T4457 1255-1259 IN denotes that
T4459 1260-1262 IN denotes in
T4460 1263-1266 CD denotes one
T4462 1267-1275 NN denotes compound
T4463 1276-1288 JJ denotes heterozygous
T4461 1289-1295 NN denotes animal
T4464 1295-1297 , denotes ,
T4465 1297-1300 DT denotes the
T4467 1301-1304 NN denotes Xpd
T4468 1305-1312 JJ denotes allelic
T4466 1313-1325 NN denotes relationship
T4469 1326-1331 MD denotes could
T4458 1332-1337 VB denotes shift
T4470 1338-1342 IN denotes from
T4471 1343-1353 JJ denotes A dominant
T4473 1354-1355 HYPH denotes |
T4472 1355-1366 JJ denotes a recessive
T4474 1367-1369 IN denotes to
T4475 1370-1381 JJ denotes A recessive
T4477 1382-1383 HYPH denotes |
T4476 1383-1393 JJ denotes a dominant
T4478 1394-1398 IN denotes with
T4479 1399-1406 NN denotes respect
T4480 1407-1409 IN denotes to
T4481 1410-1419 JJ denotes different
T4482 1420-1430 NNS denotes phenotypes
T4483 1431-1433 IN denotes in
T4484 1434-1435 DT denotes a
T4486 1436-1440 NN denotes time
T4488 1440-1441 HYPH denotes -
T4487 1441-1450 JJ denotes dependent
T4489 1451-1454 CC denotes and
T4490 1455-1461 NN denotes tissue
T4492 1461-1462 HYPH denotes -
T4491 1462-1470 JJ denotes specific
T4485 1471-1477 NN denotes manner
T4493 1478-1479 -LRB- denotes (
T4494 1479-1482 VB denotes see
T4495 1483-1488 RB denotes below
T4497 1489-1492 CC denotes and
T4496 1493-1498 NN denotes Table
T4498 1499-1500 CD denotes 2
T4499 1500-1501 -RRB- denotes )
T4500 1501-1502 . denotes .
T4501 1502-1689 sentence denotes In the third type of biallelic effect, known as interallelic complementation, two mutant alleles produced a phenotype closer to wt than either could alone in a homo- or hemizygous state.
T4502 1503-1505 IN denotes In
T4504 1506-1509 DT denotes the
T4506 1510-1515 JJ denotes third
T4505 1516-1520 NN denotes type
T4507 1521-1523 IN denotes of
T4508 1524-1533 JJ denotes biallelic
T4509 1534-1540 NN denotes effect
T4510 1540-1542 , denotes ,
T4511 1542-1547 VBN denotes known
T4512 1548-1550 IN denotes as
T4513 1551-1563 JJ denotes interallelic
T4514 1564-1579 NN denotes complementation
T4515 1579-1581 , denotes ,
T4516 1581-1584 CD denotes two
T4518 1585-1591 JJ denotes mutant
T4517 1592-1599 NNS denotes alleles
T4503 1600-1608 VBD denotes produced
T4519 1609-1610 DT denotes a
T4520 1611-1620 NN denotes phenotype
T4521 1621-1627 RBR denotes closer
T4522 1628-1630 IN denotes to
T4523 1631-1633 NN denotes wt
T4524 1634-1638 IN denotes than
T4526 1639-1645 DT denotes either
T4527 1646-1651 MD denotes could
T4525 1652-1657 RB denotes alone
T4528 1658-1660 IN denotes in
T4529 1661-1662 DT denotes a
T4531 1663-1667 AFX denotes homo
T4533 1667-1668 HYPH denotes -
T4534 1669-1671 CC denotes or
T4532 1672-1682 JJ denotes hemizygous
T4530 1683-1688 NN denotes state
T4535 1688-1689 . denotes .
T4536 1689-1864 sentence denotes As summarised in Table 2, examples of all types of biallelic effects were observed in a variety of Xpd-associated phenotypes, ranging from brittle hair to segmental progeria.
T4537 1690-1692 IN denotes As
T4538 1693-1703 VBN denotes summarised
T4540 1704-1706 IN denotes in
T4541 1707-1712 NN denotes Table
T4542 1713-1714 CD denotes 2
T4543 1714-1716 , denotes ,
T4544 1716-1724 NNS denotes examples
T4545 1725-1727 IN denotes of
T4546 1728-1731 DT denotes all
T4547 1732-1737 NNS denotes types
T4548 1738-1740 IN denotes of
T4549 1741-1750 JJ denotes biallelic
T4550 1751-1758 NNS denotes effects
T4551 1759-1763 VBD denotes were
T4539 1764-1772 VBN denotes observed
T4552 1773-1775 IN denotes in
T4553 1776-1777 DT denotes a
T4554 1778-1785 NN denotes variety
T4555 1786-1788 IN denotes of
T4556 1789-1792 NN denotes Xpd
T4558 1792-1793 HYPH denotes -
T4557 1793-1803 VBN denotes associated
T4559 1804-1814 NNS denotes phenotypes
T4560 1814-1816 , denotes ,
T4561 1816-1823 VBG denotes ranging
T4562 1824-1828 IN denotes from
T4563 1829-1836 JJ denotes brittle
T4564 1837-1841 NN denotes hair
T4565 1842-1844 IN denotes to
T4566 1845-1854 JJ denotes segmental
T4567 1855-1863 NN denotes progeria
T4568 1863-1864 . denotes .
T4805 1866-1871 NN denotes TFIIH
T4806 1872-1874 IN denotes in
T4807 1875-1888 NN denotes Transcription
T4808 1889-1892 CC denotes and
T4809 1893-1899 NN denotes Repair
T4810 1899-1901 : denotes :
T4811 1901-1911 NNS denotes Mechanisms
T4812 1912-1914 IN denotes of
T4813 1915-1918 NN denotes XPD
T4815 1919-1926 NN denotes Disease
T4814 1927-1937 NN denotes Pleiotropy
T4816 1937-2227 sentence denotes We observed differences in the ability of XpdTTD versus homozygous lethal Xpd†XPCS and Xpd†XP alleles to function in two transcription-related phenotypes separated in the organism by both time and space: embryonic lethality and terminal differentiation of enucleating skin and blood cells.
T4817 1938-1940 PRP denotes We
T4818 1941-1949 VBD denotes observed
T4819 1950-1961 NNS denotes differences
T4820 1962-1964 IN denotes in
T4821 1965-1968 DT denotes the
T4822 1969-1976 NN denotes ability
T4823 1977-1979 IN denotes of
T4824 1980-1986 NN denotes XpdTTD
T4825 1987-1993 CC denotes versus
T4826 1994-2004 JJ denotes homozygous
T4828 2005-2011 JJ denotes lethal
T4829 2012-2020 NN denotes Xpd†XPCS
T4830 2021-2024 CC denotes and
T4831 2025-2031 NN denotes Xpd†XP
T4827 2032-2039 NNS denotes alleles
T4832 2040-2042 TO denotes to
T4833 2043-2051 VB denotes function
T4834 2052-2054 IN denotes in
T4835 2055-2058 CD denotes two
T4837 2059-2072 NN denotes transcription
T4839 2072-2073 HYPH denotes -
T4838 2073-2080 VBN denotes related
T4836 2081-2091 NNS denotes phenotypes
T4840 2092-2101 VBN denotes separated
T4841 2102-2104 IN denotes in
T4842 2105-2108 DT denotes the
T4843 2109-2117 NN denotes organism
T4844 2118-2120 IN denotes by
T4845 2121-2125 CC denotes both
T4846 2126-2130 NN denotes time
T4847 2131-2134 CC denotes and
T4848 2135-2140 NN denotes space
T4849 2140-2142 : denotes :
T4850 2142-2151 JJ denotes embryonic
T4851 2152-2161 NN denotes lethality
T4852 2162-2165 CC denotes and
T4853 2166-2174 JJ denotes terminal
T4854 2175-2190 NN denotes differentiation
T4855 2191-2193 IN denotes of
T4856 2194-2205 VBG denotes enucleating
T4857 2206-2210 NN denotes skin
T4858 2211-2214 CC denotes and
T4859 2215-2220 NN denotes blood
T4860 2221-2226 NNS denotes cells
T4861 2226-2227 . denotes .
T4862 2227-2407 sentence denotes The preblastocyst-stage homozygous lethality shared by the XpdKO, Xpd†XPCS, and Xpd†XP alleles most likely reflects a defect in basal transcription that is incompatible with life.
T4863 2228-2231 DT denotes The
T4865 2232-2245 NN denotes preblastocyst
T4867 2245-2246 HYPH denotes -
T4866 2246-2251 NN denotes stage
T4868 2252-2262 JJ denotes homozygous
T4864 2263-2272 NN denotes lethality
T4870 2273-2279 VBN denotes shared
T4871 2280-2282 IN denotes by
T4872 2283-2286 DT denotes the
T4874 2287-2292 NN denotes XpdKO
T4875 2292-2294 , denotes ,
T4876 2294-2302 NN denotes Xpd†XPCS
T4877 2302-2304 , denotes ,
T4878 2304-2307 CC denotes and
T4879 2308-2314 NN denotes Xpd†XP
T4873 2315-2322 NNS denotes alleles
T4880 2323-2327 RBS denotes most
T4881 2328-2334 RB denotes likely
T4869 2335-2343 VBZ denotes reflects
T4882 2344-2345 DT denotes a
T4883 2346-2352 NN denotes defect
T4884 2353-2355 IN denotes in
T4885 2356-2361 JJ denotes basal
T4886 2362-2375 NN denotes transcription
T4887 2376-2380 WDT denotes that
T4888 2381-2383 VBZ denotes is
T4889 2384-2396 JJ denotes incompatible
T4890 2397-2401 IN denotes with
T4891 2402-2406 NN denotes life
T4892 2406-2407 . denotes .
T4893 2407-2528 sentence denotes In XpdTTD/ †XPCS and XpdTTD/ †XP compound heterozygous mice, embryonic lethality was fully rescued by the XpdTTD allele.
T4894 2408-2410 IN denotes In
T4896 2411-2417 NN denotes XpdTTD
T4898 2417-2418 HYPH denotes /
T4897 2418-2424 NN denotes  †XPCS
T4900 2425-2428 CC denotes and
T4901 2429-2435 NN denotes XpdTTD
T4903 2435-2436 HYPH denotes /
T4902 2436-2440 NN denotes  †XP
T4904 2441-2449 NN denotes compound
T4905 2450-2462 JJ denotes heterozygous
T4899 2463-2467 NNS denotes mice
T4906 2467-2469 , denotes ,
T4907 2469-2478 JJ denotes embryonic
T4908 2479-2488 NN denotes lethality
T4909 2489-2492 VBD denotes was
T4910 2493-2498 RB denotes fully
T4895 2499-2506 VBN denotes rescued
T4911 2507-2509 IN denotes by
T4912 2510-2513 DT denotes the
T4914 2514-2520 NN denotes XpdTTD
T4913 2521-2527 NN denotes allele
T4915 2527-2528 . denotes .
T4916 2528-2793 sentence denotes Because embryonic lethality was also fully rescued in XpdTTD/KO hemizygous mice, the XpdTTD allele can be considered as wt and thus dominant to each of the homozygous lethal alleles (XpdKO, Xpd†XPCS, and Xpd†XP) with respect to this particular phenotype (Table 2).
T4917 2529-2536 IN denotes Because
T4919 2537-2546 JJ denotes embryonic
T4920 2547-2556 NN denotes lethality
T4921 2557-2560 VBD denotes was
T4922 2561-2565 RB denotes also
T4923 2566-2571 RB denotes fully
T4918 2572-2579 VBN denotes rescued
T4925 2580-2582 IN denotes in
T4926 2583-2589 NN denotes XpdTTD
T4928 2589-2590 HYPH denotes /
T4927 2590-2592 NN denotes KO
T4930 2593-2603 JJ denotes hemizygous
T4929 2604-2608 NNS denotes mice
T4931 2608-2610 , denotes ,
T4932 2610-2613 DT denotes the
T4934 2614-2620 NN denotes XpdTTD
T4933 2621-2627 NN denotes allele
T4935 2628-2631 MD denotes can
T4936 2632-2634 VB denotes be
T4924 2635-2645 VBN denotes considered
T4937 2646-2648 IN denotes as
T4938 2649-2651 NN denotes wt
T4939 2652-2655 CC denotes and
T4940 2656-2660 RB denotes thus
T4941 2661-2669 JJ denotes dominant
T4942 2670-2672 IN denotes to
T4943 2673-2677 DT denotes each
T4944 2678-2680 IN denotes of
T4945 2681-2684 DT denotes the
T4947 2685-2695 JJ denotes homozygous
T4948 2696-2702 JJ denotes lethal
T4946 2703-2710 NNS denotes alleles
T4949 2711-2712 -LRB- denotes (
T4950 2712-2717 NN denotes XpdKO
T4951 2717-2719 , denotes ,
T4952 2719-2727 NN denotes Xpd†XPCS
T4953 2727-2729 , denotes ,
T4954 2729-2732 CC denotes and
T4955 2733-2739 NN denotes Xpd†XP
T4956 2739-2740 -RRB- denotes )
T4957 2741-2745 IN denotes with
T4958 2746-2753 NN denotes respect
T4959 2754-2756 IN denotes to
T4960 2757-2761 DT denotes this
T4962 2762-2772 JJ denotes particular
T4961 2773-2782 NN denotes phenotype
T4963 2783-2784 -LRB- denotes (
T4964 2784-2789 NN denotes Table
T4965 2790-2791 CD denotes 2
T4966 2791-2792 -RRB- denotes )
T4967 2792-2793 . denotes .
T4968 2793-3053 sentence denotes TTD-specific cutaneous and anaemic features, on the other hand, are thought to result from a specific kind of transcriptional insufficiency caused by depletion of unstable TFIIH during the terminal differentiation of skin, hair-shaft, and blood cells [16,24].
T4969 2794-2797 NN denotes TTD
T4971 2797-2798 HYPH denotes -
T4970 2798-2806 JJ denotes specific
T4973 2807-2816 JJ denotes cutaneous
T4974 2817-2820 CC denotes and
T4975 2821-2828 JJ denotes anaemic
T4972 2829-2837 NNS denotes features
T4977 2837-2839 , denotes ,
T4978 2839-2841 IN denotes on
T4979 2842-2845 DT denotes the
T4981 2846-2851 JJ denotes other
T4980 2852-2856 NN denotes hand
T4982 2856-2858 , denotes ,
T4983 2858-2861 VBP denotes are
T4976 2862-2869 VBN denotes thought
T4984 2870-2872 TO denotes to
T4985 2873-2879 VB denotes result
T4986 2880-2884 IN denotes from
T4987 2885-2886 DT denotes a
T4989 2887-2895 JJ denotes specific
T4988 2896-2900 NN denotes kind
T4990 2901-2903 IN denotes of
T4991 2904-2919 JJ denotes transcriptional
T4992 2920-2933 NN denotes insufficiency
T4993 2934-2940 VBN denotes caused
T4994 2941-2943 IN denotes by
T4995 2944-2953 NN denotes depletion
T4996 2954-2956 IN denotes of
T4997 2957-2965 JJ denotes unstable
T4998 2966-2971 NN denotes TFIIH
T4999 2972-2978 IN denotes during
T5000 2979-2982 DT denotes the
T5002 2983-2991 JJ denotes terminal
T5001 2992-3007 NN denotes differentiation
T5003 3008-3010 IN denotes of
T5004 3011-3015 NN denotes skin
T5006 3015-3017 , denotes ,
T5007 3017-3021 NN denotes hair
T5009 3021-3022 HYPH denotes -
T5008 3022-3027 NN denotes shaft
T5010 3027-3029 , denotes ,
T5011 3029-3032 CC denotes and
T5012 3033-3038 NN denotes blood
T5005 3039-3044 NNS denotes cells
T5013 3045-3046 -LRB- denotes [
T5015 3046-3048 CD denotes 16
T5016 3048-3049 , denotes ,
T5014 3049-3051 CD denotes 24
T5017 3051-3052 -RRB- denotes ]
T5018 3052-3053 . denotes .
T5019 3053-3298 sentence denotes In compound heterozygous mice, both homozygous lethal Xpd†XPCS and Xpd†XP alleles were able to alleviate XpdTTD-specific cutaneous and anaemic features and can thus be defined as dominant over the XpdTTD allele with respect to these phenotypes.
T5020 3054-3056 IN denotes In
T5022 3057-3065 NN denotes compound
T5024 3066-3078 JJ denotes heterozygous
T5023 3079-3083 NNS denotes mice
T5025 3083-3085 , denotes ,
T5026 3085-3089 DT denotes both
T5028 3090-3100 JJ denotes homozygous
T5029 3101-3107 JJ denotes lethal
T5030 3108-3116 NN denotes Xpd†XPCS
T5031 3117-3120 CC denotes and
T5032 3121-3127 NN denotes Xpd†XP
T5027 3128-3135 NNS denotes alleles
T5021 3136-3140 VBD denotes were
T5033 3141-3145 JJ denotes able
T5034 3146-3148 TO denotes to
T5035 3149-3158 VB denotes alleviate
T5036 3159-3165 NN denotes XpdTTD
T5038 3165-3166 HYPH denotes -
T5037 3166-3174 JJ denotes specific
T5040 3175-3184 JJ denotes cutaneous
T5041 3185-3188 CC denotes and
T5042 3189-3196 JJ denotes anaemic
T5039 3197-3205 NNS denotes features
T5043 3206-3209 CC denotes and
T5044 3210-3213 MD denotes can
T5046 3214-3218 RB denotes thus
T5047 3219-3221 VB denotes be
T5045 3222-3229 VBN denotes defined
T5048 3230-3232 IN denotes as
T5049 3233-3241 JJ denotes dominant
T5050 3242-3246 IN denotes over
T5051 3247-3250 DT denotes the
T5053 3251-3257 NN denotes XpdTTD
T5052 3258-3264 NN denotes allele
T5054 3265-3269 IN denotes with
T5055 3270-3277 NN denotes respect
T5056 3278-3280 IN denotes to
T5057 3281-3286 DT denotes these
T5058 3287-3297 NNS denotes phenotypes
T5059 3297-3298 . denotes .
T5060 3298-3515 sentence denotes We conclude that the defects leading to embryonic lethality and aberrant terminal differentiation of the skin, hair, and blood represent two qualitatively and/or quantitatively different transcriptional deficiencies.
T5061 3299-3301 PRP denotes We
T5062 3302-3310 VBP denotes conclude
T5063 3311-3315 IN denotes that
T5065 3316-3319 DT denotes the
T5066 3320-3327 NNS denotes defects
T5067 3328-3335 VBG denotes leading
T5068 3336-3338 IN denotes to
T5069 3339-3348 JJ denotes embryonic
T5070 3349-3358 NN denotes lethality
T5071 3359-3362 CC denotes and
T5072 3363-3371 JJ denotes aberrant
T5074 3372-3380 JJ denotes terminal
T5073 3381-3396 NN denotes differentiation
T5075 3397-3399 IN denotes of
T5076 3400-3403 DT denotes the
T5077 3404-3408 NN denotes skin
T5078 3408-3410 , denotes ,
T5079 3410-3414 NN denotes hair
T5080 3414-3416 , denotes ,
T5081 3416-3419 CC denotes and
T5082 3420-3425 NN denotes blood
T5064 3426-3435 VBP denotes represent
T5083 3436-3439 CD denotes two
T5085 3440-3453 RB denotes qualitatively
T5087 3454-3457 CC denotes and
T5088 3457-3458 HYPH denotes /
T5089 3458-3460 CC denotes or
T5090 3461-3475 RB denotes quantitatively
T5086 3476-3485 JJ denotes different
T5091 3486-3501 JJ denotes transcriptional
T5084 3502-3514 NNS denotes deficiencies
T5092 3514-3515 . denotes .
T5093 3515-3706 sentence denotes During early embryonic development, XpdTTD is dominant over the Xpd†XPCS and Xpd†XP alleles, whereas later in the ontogenesis of skin, hair-shaft, and blood cells, the situation is reversed.
T5094 3516-3522 IN denotes During
T5096 3523-3528 JJ denotes early
T5098 3529-3538 JJ denotes embryonic
T5097 3539-3550 NN denotes development
T5099 3550-3552 , denotes ,
T5100 3552-3558 NN denotes XpdTTD
T5095 3559-3561 VBZ denotes is
T5101 3562-3570 JJ denotes dominant
T5102 3571-3575 IN denotes over
T5103 3576-3579 DT denotes the
T5105 3580-3588 NN denotes Xpd†XPCS
T5106 3589-3592 CC denotes and
T5107 3593-3599 NN denotes Xpd†XP
T5104 3600-3607 NNS denotes alleles
T5108 3607-3609 , denotes ,
T5109 3609-3616 IN denotes whereas
T5111 3617-3622 RB denotes later
T5112 3623-3625 IN denotes in
T5113 3626-3629 DT denotes the
T5114 3630-3641 NN denotes ontogenesis
T5115 3642-3644 IN denotes of
T5116 3645-3649 NN denotes skin
T5117 3649-3651 , denotes ,
T5118 3651-3655 NN denotes hair
T5120 3655-3656 HYPH denotes -
T5119 3656-3661 NN denotes shaft
T5121 3661-3663 , denotes ,
T5122 3663-3666 CC denotes and
T5123 3667-3672 NN denotes blood
T5124 3673-3678 NNS denotes cells
T5125 3678-3680 , denotes ,
T5126 3680-3683 DT denotes the
T5127 3684-3693 NN denotes situation
T5128 3694-3696 VBZ denotes is
T5110 3697-3705 VBN denotes reversed
T5129 3705-3706 . denotes .
T5130 3706-3949 sentence denotes In its role in the repair of UV photolesions, the Xpd†XPCS allele imparted a clear UV survival benefit over a single XpdTTD allele or two XpdXPCS alleles independent of expression levels, which is consistent with interallelic complementation.
T5131 3707-3709 IN denotes In
T5133 3710-3713 PRP$ denotes its
T5134 3714-3718 NN denotes role
T5135 3719-3721 IN denotes in
T5136 3722-3725 DT denotes the
T5137 3726-3732 NN denotes repair
T5138 3733-3735 IN denotes of
T5139 3736-3738 NN denotes UV
T5140 3739-3751 NNS denotes photolesions
T5141 3751-3753 , denotes ,
T5142 3753-3756 DT denotes the
T5144 3757-3765 NN denotes Xpd†XPCS
T5143 3766-3772 NN denotes allele
T5132 3773-3781 VBD denotes imparted
T5145 3782-3783 DT denotes a
T5147 3784-3789 JJ denotes clear
T5148 3790-3792 NN denotes UV
T5149 3793-3801 NN denotes survival
T5146 3802-3809 NN denotes benefit
T5150 3810-3814 IN denotes over
T5151 3815-3816 DT denotes a
T5153 3817-3823 JJ denotes single
T5154 3824-3830 NN denotes XpdTTD
T5152 3831-3837 NN denotes allele
T5155 3838-3840 CC denotes or
T5156 3841-3844 CD denotes two
T5158 3845-3852 NN denotes XpdXPCS
T5157 3853-3860 NNS denotes alleles
T5159 3861-3872 JJ denotes independent
T5160 3873-3875 IN denotes of
T5161 3876-3886 NN denotes expression
T5162 3887-3893 NNS denotes levels
T5163 3893-3895 , denotes ,
T5164 3895-3900 WDT denotes which
T5165 3901-3903 VBZ denotes is
T5166 3904-3914 JJ denotes consistent
T5167 3915-3919 IN denotes with
T5168 3920-3932 JJ denotes interallelic
T5169 3933-3948 NN denotes complementation
T5170 3948-3949 . denotes .
T5171 3949-4169 sentence denotes However, the observation that no other cellular or biochemical UV-related parameters were improved in XpdTTD/ †XPCS argues against complementation of this repair activity in the rescue of TTD progeroid symptoms in vivo.
T5172 3950-3957 RB denotes However
T5174 3957-3959 , denotes ,
T5175 3959-3962 DT denotes the
T5176 3963-3974 NN denotes observation
T5177 3975-3979 IN denotes that
T5179 3980-3982 DT denotes no
T5181 3983-3988 JJ denotes other
T5182 3989-3997 JJ denotes cellular
T5183 3998-4000 CC denotes or
T5184 4001-4012 JJ denotes biochemical
T5185 4013-4015 NN denotes UV
T5187 4015-4016 HYPH denotes -
T5186 4016-4023 VBN denotes related
T5180 4024-4034 NNS denotes parameters
T5188 4035-4039 VBD denotes were
T5178 4040-4048 VBN denotes improved
T5189 4049-4051 IN denotes in
T5190 4052-4058 NN denotes XpdTTD
T5192 4058-4059 HYPH denotes /
T5191 4059-4065 NN denotes  †XPCS
T5173 4066-4072 VBZ denotes argues
T5193 4073-4080 IN denotes against
T5194 4081-4096 NN denotes complementation
T5195 4097-4099 IN denotes of
T5196 4100-4104 DT denotes this
T5198 4105-4111 NN denotes repair
T5197 4112-4120 NN denotes activity
T5199 4121-4123 IN denotes in
T5200 4124-4127 DT denotes the
T5201 4128-4134 NN denotes rescue
T5202 4135-4137 IN denotes of
T5203 4138-4141 NN denotes TTD
T5205 4142-4151 JJ denotes progeroid
T5204 4152-4160 NNS denotes symptoms
T5206 4161-4163 FW denotes in
T5207 4164-4168 FW denotes vivo
T5208 4168-4169 . denotes .
T5295 4171-4183 JJ denotes Interallelic
T5296 4184-4199 NN denotes Complementation
T5297 4200-4203 CC denotes and
T5298 4204-4207 NN denotes XPD
T5299 4208-4216 NN denotes Function
T5300 4216-4300 sentence denotes What does interallelic complementation tell us about the mechanism of XPD function?
T5301 4217-4221 WP denotes What
T5303 4222-4226 VBZ denotes does
T5304 4227-4239 JJ denotes interallelic
T5305 4240-4255 NN denotes complementation
T5302 4256-4260 VB denotes tell
T5306 4261-4263 PRP denotes us
T5307 4264-4269 IN denotes about
T5308 4270-4273 DT denotes the
T5309 4274-4283 NN denotes mechanism
T5310 4284-4286 IN denotes of
T5311 4287-4290 NN denotes XPD
T5312 4291-4299 NN denotes function
T5313 4299-4300 . denotes ?
T5314 4300-4409 sentence denotes Interallelic complementation is most often observed in multimeric proteins with multiple functional domains.
T5315 4301-4313 JJ denotes Interallelic
T5316 4314-4329 NN denotes complementation
T5318 4330-4332 VBZ denotes is
T5319 4333-4337 RBS denotes most
T5320 4338-4343 RB denotes often
T5317 4344-4352 VBN denotes observed
T5321 4353-4355 IN denotes in
T5322 4356-4366 JJ denotes multimeric
T5323 4367-4375 NN denotes proteins
T5324 4376-4380 IN denotes with
T5325 4381-4389 JJ denotes multiple
T5327 4390-4400 JJ denotes functional
T5326 4401-4408 NNS denotes domains
T5328 4408-4409 . denotes .
T5329 4409-4628 sentence denotes Unfortunately, the structure–function relationship between disease-causing mutations and XPD functional domains, including detailed structural information on XPD or even its stoichiometry within TFIIH, remains unknown.
T5330 4410-4423 RB denotes Unfortunately
T5332 4423-4425 , denotes ,
T5333 4425-4428 DT denotes the
T5335 4429-4438 NN denotes structure
T5337 4438-4439 HYPH denotes –
T5336 4439-4447 NN denotes function
T5334 4448-4460 NN denotes relationship
T5338 4461-4468 IN denotes between
T5339 4469-4476 NN denotes disease
T5341 4476-4477 HYPH denotes -
T5340 4477-4484 VBG denotes causing
T5342 4485-4494 NNS denotes mutations
T5343 4495-4498 CC denotes and
T5344 4499-4502 NN denotes XPD
T5346 4503-4513 JJ denotes functional
T5345 4514-4521 NNS denotes domains
T5347 4521-4523 , denotes ,
T5348 4523-4532 VBG denotes including
T5349 4533-4541 JJ denotes detailed
T5351 4542-4552 JJ denotes structural
T5350 4553-4564 NN denotes information
T5352 4565-4567 IN denotes on
T5353 4568-4571 NN denotes XPD
T5354 4572-4574 CC denotes or
T5355 4575-4579 RB denotes even
T5357 4580-4583 PRP$ denotes its
T5356 4584-4597 NN denotes stoichiometry
T5358 4598-4604 IN denotes within
T5359 4605-4610 NN denotes TFIIH
T5360 4610-4612 , denotes ,
T5331 4612-4619 VBZ denotes remains
T5361 4620-4627 JJ denotes unknown
T5362 4627-4628 . denotes .
T5363 4628-4897 sentence denotes However, based on the ability of cell extracts that are defective in two different TFIIH components (XPD and XPB) to complement NER activity in vitro [26], it is likely that TFIIH (or its components) can either multimerise or exchange at least during the NER reaction.
T5364 4629-4636 RB denotes However
T5366 4636-4638 , denotes ,
T5367 4638-4643 VBN denotes based
T5368 4644-4646 IN denotes on
T5369 4647-4650 DT denotes the
T5370 4651-4658 NN denotes ability
T5371 4659-4661 IN denotes of
T5372 4662-4666 NN denotes cell
T5373 4667-4675 NNS denotes extracts
T5374 4676-4680 WDT denotes that
T5375 4681-4684 VBP denotes are
T5376 4685-4694 JJ denotes defective
T5377 4695-4697 IN denotes in
T5378 4698-4701 CD denotes two
T5380 4702-4711 JJ denotes different
T5381 4712-4717 NN denotes TFIIH
T5379 4718-4728 NNS denotes components
T5382 4729-4730 -LRB- denotes (
T5383 4730-4733 NN denotes XPD
T5384 4734-4737 CC denotes and
T5385 4738-4741 NN denotes XPB
T5386 4741-4742 -RRB- denotes )
T5387 4743-4745 TO denotes to
T5388 4746-4756 VB denotes complement
T5389 4757-4760 NN denotes NER
T5390 4761-4769 NN denotes activity
T5391 4770-4772 FW denotes in
T5392 4773-4778 FW denotes vitro
T5393 4779-4780 -LRB- denotes [
T5394 4780-4782 CD denotes 26
T5395 4782-4783 -RRB- denotes ]
T5396 4783-4785 , denotes ,
T5397 4785-4787 PRP denotes it
T5365 4788-4790 VBZ denotes is
T5398 4791-4797 JJ denotes likely
T5399 4798-4802 IN denotes that
T5401 4803-4808 NN denotes TFIIH
T5402 4809-4810 -LRB- denotes (
T5403 4810-4812 CC denotes or
T5404 4813-4816 PRP$ denotes its
T5405 4817-4827 NNS denotes components
T5406 4827-4828 -RRB- denotes )
T5407 4829-4832 MD denotes can
T5408 4833-4839 CC denotes either
T5400 4840-4851 VB denotes multimerise
T5409 4852-4854 CC denotes or
T5410 4855-4863 VB denotes exchange
T5411 4864-4866 RB denotes at
T5412 4867-4872 RBS denotes least
T5413 4873-4879 IN denotes during
T5414 4880-4883 DT denotes the
T5416 4884-4887 NN denotes NER
T5415 4888-4896 NN denotes reaction
T5417 4896-4897 . denotes .
T5418 4897-4970 sentence denotes Furthermore, XPD is known to be a “loosely bound” subunit of TFIIH [27].
T5419 4898-4909 RB denotes Furthermore
T5421 4909-4911 , denotes ,
T5422 4911-4914 NN denotes XPD
T5423 4915-4917 VBZ denotes is
T5420 4918-4923 VBN denotes known
T5424 4924-4926 TO denotes to
T5425 4927-4929 VB denotes be
T5426 4930-4931 DT denotes a
T5428 4932-4933 RB denotes “
T5429 4933-4940 RB denotes loosely
T5430 4941-4946 VBN denotes bound
T5431 4946-4947 '' denotes ”
T5427 4948-4955 NN denotes subunit
T5432 4956-4958 IN denotes of
T5433 4959-4964 NN denotes TFIIH
T5434 4965-4966 -LRB- denotes [
T5435 4966-4968 CD denotes 27
T5436 4968-4969 -RRB- denotes ]
T5437 4969-4970 . denotes .
T5438 4970-5327 sentence denotes We thus envisage the molecular mechanism of interallelic complementation to involve the exchange of XPD molecules within the TFIIH complex or turnover of TFIIH complexes containing different XPD molecules at the site of DNA damage during the course of the global genome as well as transcription-coupled repair of either UV-induced or endogenous DNA damage.
T5439 4971-4973 PRP denotes We
T5441 4974-4978 RB denotes thus
T5440 4979-4987 VBP denotes envisage
T5442 4988-4991 DT denotes the
T5444 4992-5001 JJ denotes molecular
T5443 5002-5011 NN denotes mechanism
T5446 5012-5014 IN denotes of
T5447 5015-5027 JJ denotes interallelic
T5448 5028-5043 NN denotes complementation
T5449 5044-5046 TO denotes to
T5445 5047-5054 VB denotes involve
T5450 5055-5058 DT denotes the
T5451 5059-5067 NN denotes exchange
T5452 5068-5070 IN denotes of
T5453 5071-5074 NN denotes XPD
T5454 5075-5084 NNS denotes molecules
T5455 5085-5091 IN denotes within
T5456 5092-5095 DT denotes the
T5458 5096-5101 NN denotes TFIIH
T5457 5102-5109 NN denotes complex
T5459 5110-5112 CC denotes or
T5460 5113-5121 NN denotes turnover
T5461 5122-5124 IN denotes of
T5462 5125-5130 NN denotes TFIIH
T5463 5131-5140 NNS denotes complexes
T5464 5141-5151 VBG denotes containing
T5465 5152-5161 JJ denotes different
T5467 5162-5165 NN denotes XPD
T5466 5166-5175 NNS denotes molecules
T5468 5176-5178 IN denotes at
T5469 5179-5182 DT denotes the
T5470 5183-5187 NN denotes site
T5471 5188-5190 IN denotes of
T5472 5191-5194 NN denotes DNA
T5473 5195-5201 NN denotes damage
T5474 5202-5208 IN denotes during
T5475 5209-5212 DT denotes the
T5476 5213-5219 NN denotes course
T5477 5220-5222 IN denotes of
T5478 5223-5226 DT denotes the
T5480 5227-5233 JJ denotes global
T5479 5234-5240 NN denotes genome
T5481 5241-5243 RB denotes as
T5483 5244-5248 RB denotes well
T5482 5249-5251 IN denotes as
T5484 5252-5265 NN denotes transcription
T5486 5265-5266 HYPH denotes -
T5485 5266-5273 VBN denotes coupled
T5487 5274-5280 NN denotes repair
T5488 5281-5283 IN denotes of
T5489 5284-5290 CC denotes either
T5491 5291-5293 NN denotes UV
T5493 5293-5294 HYPH denotes -
T5492 5294-5301 VBN denotes induced
T5494 5302-5304 CC denotes or
T5495 5305-5315 JJ denotes endogenous
T5496 5316-5319 NN denotes DNA
T5490 5320-5326 NN denotes damage
T5497 5326-5327 . denotes .
T5607 5329-5330 DT denotes A
T5609 5331-5340 JJ denotes Biallelic
T5608 5341-5349 NN denotes Paradigm
T5610 5350-5353 IN denotes for
T5611 5354-5357 NN denotes XPD
T5612 5358-5367 NNS denotes Disorders
T5613 5367-5649 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 5368-5376 RB denotes Recently
T5616 5376-5378 , denotes ,
T5617 5378-5386 NN denotes proteins
T5618 5387-5398 VBG denotes originating
T5619 5399-5403 IN denotes from
T5620 5404-5412 VBN denotes presumed
T5622 5413-5417 JJ denotes null
T5621 5418-5425 NNS denotes alleles
T5623 5426-5430 VBD denotes were
T5624 5431-5444 RB denotes biochemically
T5615 5445-5458 VBN denotes characterised
T5625 5459-5461 IN denotes as
T5626 5462-5470 JJ denotes inactive
T5627 5471-5473 IN denotes in
T5628 5474-5479 JJ denotes basal
T5629 5480-5493 NN denotes transcription
T5630 5494-5495 -LRB- denotes [
T5631 5495-5497 CD denotes 27
T5632 5497-5498 -RRB- denotes ]
T5633 5498-5500 , denotes ,
T5634 5500-5509 VBG denotes providing
T5635 5510-5512 DT denotes an
T5636 5513-5524 NN denotes explanation
T5637 5525-5527 IN denotes as
T5638 5528-5530 IN denotes to
T5639 5531-5534 WRB denotes why
T5641 5535-5540 DT denotes these
T5642 5541-5548 NNS denotes alleles
T5640 5549-5555 VBD denotes failed
T5643 5556-5558 TO denotes to
T5644 5559-5565 VB denotes rescue
T5645 5566-5575 NN denotes lethality
T5646 5576-5578 IN denotes in
T5647 5579-5586 JJ denotes haploid
T5649 5587-5589 FW denotes S.
T5648 5590-5595 FW denotes pombe
T5650 5596-5600 IN denotes with
T5651 5601-5602 DT denotes a
T5653 5603-5607 JJ denotes null
T5652 5608-5616 NN denotes mutation
T5654 5617-5619 IN denotes in
T5655 5620-5623 DT denotes the
T5657 5624-5627 NN denotes XPD
T5656 5628-5637 NN denotes homologue
T5658 5638-5643 NN denotes rad15
T5659 5644-5645 -LRB- denotes [
T5660 5645-5647 CD denotes 19
T5661 5647-5648 -RRB- denotes ]
T5662 5648-5649 . denotes .
T5663 5649-5881 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 5650-5653 PRP$ denotes Our
T5665 5654-5658 NNS denotes data
T5666 5659-5666 VBP denotes suggest
T5667 5667-5671 IN denotes that
T5669 5672-5679 JJ denotes certain
T5671 5680-5688 VBN denotes presumed
T5672 5689-5693 JJ denotes null
T5670 5694-5701 NNS denotes alleles
T5673 5701-5703 , denotes ,
T5674 5703-5711 IN denotes although
T5675 5712-5718 JJ denotes unable
T5676 5719-5721 IN denotes on
T5678 5722-5727 PRP$ denotes their
T5679 5728-5731 NN denotes own
T5680 5732-5734 TO denotes to
T5677 5735-5742 VB denotes support
T5681 5743-5748 JJ denotes basal
T5682 5749-5762 NN denotes transcription
T5683 5762-5764 , denotes ,
T5684 5764-5767 MD denotes may
T5685 5768-5770 IN denotes in
T5686 5771-5775 NN denotes fact
T5668 5776-5780 VB denotes have
T5687 5781-5782 DT denotes a
T5689 5783-5794 JJ denotes substantial
T5688 5795-5801 NN denotes impact
T5690 5802-5804 IN denotes on
T5691 5805-5812 NN denotes disease
T5692 5813-5820 NN denotes outcome
T5693 5821-5823 IN denotes in
T5694 5824-5832 NN denotes compound
T5696 5833-5845 JJ denotes heterozygous
T5695 5846-5852 NNS denotes humans
T5697 5852-5854 , denotes ,
T5698 5854-5856 IN denotes as
T5700 5857-5861 PRP denotes they
T5701 5862-5864 VBP denotes do
T5699 5865-5867 IN denotes in
T5702 5868-5873 NN denotes mouse
T5703 5874-5880 NNS denotes models
T5704 5880-5881 . denotes .
T5705 5881-6090 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 5882-5890 JJ denotes Clinical
T5707 5891-5899 NN denotes evidence
T5709 5900-5902 IN denotes in
T5710 5903-5910 NN denotes support
T5711 5911-5913 IN denotes of
T5712 5914-5918 DT denotes this
T5713 5919-5929 NN denotes hypothesis
T5708 5930-5935 VBZ denotes comes
T5714 5936-5940 IN denotes from
T5715 5941-5942 DT denotes a
T5716 5943-5949 NN denotes number
T5717 5950-5952 IN denotes of
T5718 5953-5955 NN denotes XP
T5720 5956-5971 NN denotes complementation
T5721 5972-5977 NN denotes group
T5722 5978-5979 NN denotes D
T5719 5980-5988 NNS denotes patients
T5723 5989-5993 WDT denotes that
T5725 5994-5996 VBP denotes do
T5726 5997-6000 RB denotes not
T5724 6001-6004 VB denotes fit
T5727 6005-6011 IN denotes within
T5728 6012-6015 DT denotes the
T5729 6016-6025 NN denotes framework
T5730 6026-6028 IN denotes of
T5731 6029-6032 DT denotes the
T5733 6033-6040 JJ denotes current
T5734 6041-6052 JJ denotes monoallelic
T5732 6053-6061 NN denotes paradigm
T5735 6062-6064 IN denotes of
T5736 6065-6068 NN denotes XPD
T5737 6069-6078 NNS denotes disorders
T5738 6079-6080 -LRB- denotes (
T5739 6080-6086 NN denotes Figure
T5740 6087-6088 CD denotes 5
T5741 6088-6089 -RRB- denotes )
T5742 6089-6090 . denotes .
T5743 6090-6518 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 6091-6093 IN denotes In
T5746 6094-6102 NN denotes contrast
T5747 6103-6105 IN denotes to
T5748 6106-6109 CD denotes two
T5750 6110-6120 JJ denotes hemizygous
T5751 6121-6128 NN denotes XPDXPCS
T5749 6129-6137 NNS denotes patients
T5752 6138-6146 VBG denotes carrying
T5753 6147-6150 DT denotes the
T5755 6151-6158 NN denotes XPDG47R
T5757 6158-6159 HYPH denotes -
T5758 6160-6162 CC denotes or
T5759 6163-6171 NN denotes XPDR666W
T5760 6171-6172 HYPH denotes -
T5756 6172-6180 VBG denotes encoding
T5754 6181-6188 NNS denotes alleles
T5761 6189-6192 WP denotes who
T5762 6193-6197 VBD denotes died
T5763 6198-6200 IN denotes of
T5764 6201-6204 DT denotes the
T5765 6205-6212 NN denotes disease
T5766 6213-6219 IN denotes before
T5767 6220-6221 CD denotes 2
T5768 6222-6223 NNS denotes y
T5769 6224-6226 IN denotes of
T5770 6227-6230 NN denotes age
T5771 6230-6232 , denotes ,
T5772 6232-6235 CD denotes two
T5774 6236-6244 JJ denotes compound
T5775 6245-6257 JJ denotes heterozygous
T5776 6258-6265 NN denotes XPDXPCS
T5773 6266-6274 NNS denotes patients
T5777 6275-6283 VBG denotes carrying
T5778 6284-6287 DT denotes the
T5780 6288-6292 JJ denotes same
T5781 6293-6300 NN denotes XPDG47R
T5783 6300-6301 HYPH denotes -
T5784 6302-6304 CC denotes or
T5785 6305-6313 NN denotes XPDR666W
T5786 6313-6314 HYPH denotes -
T5782 6314-6322 VBG denotes encoding
T5779 6323-6330 NNS denotes alleles
T5787 6331-6333 IN denotes in
T5788 6334-6342 NN denotes addition
T5789 6343-6345 IN denotes to
T5790 6346-6349 DT denotes the
T5792 6350-6358 VBN denotes presumed
T5793 6359-6363 JJ denotes null
T5794 6364-6372 NN denotes XPDL461V
T5795 6372-6373 SYM denotes +
T5796 6373-6379 NN denotes del716
T5797 6379-6380 HYPH denotes −
T5791 6380-6383 NN denotes 730
T5798 6384-6388 DT denotes both
T5745 6389-6392 VBD denotes had
T5799 6393-6405 RB denotes considerably
T5800 6406-6412 JJR denotes milder
T5802 6413-6420 NN denotes disease
T5801 6421-6429 NNS denotes symptoms
T5803 6430-6433 CC denotes and
T5804 6434-6442 VBD denotes survived
T5805 6443-6447 JJR denotes more
T5807 6448-6452 IN denotes than
T5806 6453-6456 CD denotes ten
T5808 6457-6462 NNS denotes times
T5809 6463-6469 RBR denotes longer
T5810 6470-6471 -LRB- denotes (
T5811 6471-6473 NNP denotes A.
T5812 6474-6481 NNP denotes Lehmann
T5813 6481-6483 , denotes ,
T5814 6483-6491 JJ denotes personal
T5815 6492-6505 NN denotes communication
T5816 6505-6506 -RRB- denotes )
T5817 6507-6508 -LRB- denotes (
T5818 6508-6514 NN denotes Figure
T5819 6515-6516 CD denotes 5
T5820 6516-6517 -RRB- denotes )
T5821 6517-6518 . denotes .
T5822 6518-6633 sentence denotes Compound heterozygosity is also associated with the recently reported combination XP and TTD (XPTTD) syndrome [8].
T5823 6519-6527 NN denotes Compound
T5824 6528-6542 NN denotes heterozygosity
T5826 6543-6545 VBZ denotes is
T5827 6546-6550 RB denotes also
T5825 6551-6561 VBN denotes associated
T5828 6562-6566 IN denotes with
T5829 6567-6570 DT denotes the
T5831 6571-6579 RB denotes recently
T5832 6580-6588 VBN denotes reported
T5833 6589-6600 NN denotes combination
T5834 6601-6603 NN denotes XP
T5835 6604-6607 CC denotes and
T5836 6608-6611 NN denotes TTD
T5837 6612-6613 -LRB- denotes (
T5838 6613-6618 NN denotes XPTTD
T5839 6618-6619 -RRB- denotes )
T5830 6620-6628 NN denotes syndrome
T5840 6629-6630 -LRB- denotes [
T5841 6630-6631 CD denotes 8
T5842 6631-6632 -RRB- denotes ]
T5843 6632-6633 . denotes .
T5844 6633-6778 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 6634-6641 JJ denotes Similar
T5847 6642-6644 IN denotes to
T5848 6645-6648 DT denotes the
T5850 6649-6655 NN denotes XpdTTD
T5852 6655-6656 HYPH denotes /
T5851 6656-6661 NN denotes †XPCS
T5853 6662-6665 CC denotes and
T5854 6666-6672 NN denotes XpdTTD
T5856 6672-6673 HYPH denotes /
T5855 6673-6676 NN denotes †XP
T5849 6677-6681 NNS denotes mice
T5857 6682-6691 VBN denotes described
T5858 6692-6696 RB denotes here
T5859 6696-6698 , denotes ,
T5860 6698-6702 DT denotes both
T5861 6703-6711 NNS denotes patients
T5862 6712-6716 IN denotes with
T5863 6717-6722 NN denotes XPTTD
T5864 6723-6732 VBN denotes described
T5865 6733-6735 RB denotes so
T5866 6736-6739 RB denotes far
T5846 6740-6743 VBD denotes had
T5867 6744-6756 JJ denotes intermediate
T5869 6757-6761 NN denotes hair
T5870 6762-6770 NN denotes cysteine
T5868 6771-6777 NNS denotes values
T5871 6777-6778 . denotes .
T5872 6778-6920 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 6779-6790 RB denotes Furthermore
T5875 6790-6792 , denotes ,
T5876 6792-6797 NN denotes XPTTD
T5878 6798-6805 NN denotes patient
T5877 6806-6812 NN denotes XP38BR
T5874 6813-6820 VBD denotes carried
T5879 6821-6822 DT denotes a
T5881 6823-6824 `` denotes “
T5882 6824-6833 JJ denotes causative
T5883 6833-6834 '' denotes ”
T5884 6835-6838 NN denotes TTD
T5880 6839-6847 NN denotes mutation
T5885 6848-6850 IN denotes in
T5886 6851-6854 CD denotes one
T5887 6855-6861 NN denotes allele
T5888 6862-6865 CC denotes and
T5889 6866-6867 DT denotes a
T5891 6868-6873 JJ denotes novel
T5892 6874-6879 NN denotes point
T5890 6880-6888 NN denotes mutation
T5893 6889-6897 VBG denotes encoding
T5894 6898-6906 NN denotes XPDL485P
T5895 6907-6909 IN denotes in
T5896 6910-6913 DT denotes the
T5897 6914-6919 JJ denotes other
T5898 6919-6920 . denotes .
T5899 6920-7208 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 6921-6929 IN denotes Although
T5902 6930-6933 DT denotes the
T5904 6934-6942 NN denotes XPDL485P
T5906 6942-6943 HYPH denotes -
T5905 6943-6951 VBG denotes encoding
T5903 6952-6958 NN denotes allele
T5901 6959-6964 VBZ denotes fails
T5908 6965-6967 TO denotes to
T5909 6968-6978 VB denotes complement
T5910 6979-6988 NN denotes viability
T5911 6989-6991 IN denotes in
T5912 6992-6995 DT denotes the
T5914 6996-7003 JJ denotes haploid
T5915 7004-7006 FW denotes S.
T5916 7007-7012 FW denotes pombe
T5917 7013-7018 NN denotes rad15
T5918 7019-7027 NN denotes deletion
T5913 7028-7034 NN denotes strain
T5919 7035-7038 CC denotes and
T5920 7039-7041 VBZ denotes is
T5921 7042-7046 RB denotes thus
T5922 7047-7060 JJ denotes interpretable
T5923 7061-7063 IN denotes as
T5924 7064-7065 DT denotes a
T5926 7066-7070 JJ denotes null
T5925 7071-7077 NN denotes allele
T5927 7078-7079 -LRB- denotes [
T5928 7079-7080 CD denotes 8
T5929 7080-7081 -RRB- denotes ]
T5930 7081-7083 , denotes ,
T5931 7083-7085 PRP denotes we
T5932 7086-7097 RB denotes nonetheless
T5907 7098-7105 VBP denotes suggest
T5933 7106-7110 IN denotes that
T5935 7111-7114 DT denotes the
T5937 7115-7123 JJ denotes combined
T5938 7124-7129 NN denotes XPTTD
T5936 7130-7139 NN denotes phenotype
T5939 7140-7142 IN denotes in
T5940 7143-7147 DT denotes this
T5941 7148-7155 NN denotes patient
T5934 7156-7164 VBZ denotes involves
T5942 7165-7175 JJ denotes phenotypic
T5943 7176-7189 NNS denotes contributions
T5944 7190-7194 IN denotes from
T5945 7195-7199 DT denotes both
T5946 7200-7207 NNS denotes alleles
T5947 7207-7208 . denotes .
T5948 7208-7341 sentence denotes Taken together, these data suggest a shift to a biallelic paradigm for compound heterozygous patients in XP complementation group D.
T5949 7209-7214 VBN denotes Taken
T5951 7215-7223 RB denotes together
T5952 7223-7225 , denotes ,
T5953 7225-7230 DT denotes these
T5954 7231-7235 NNS denotes data
T5950 7236-7243 VBP denotes suggest
T5955 7244-7245 DT denotes a
T5956 7246-7251 NN denotes shift
T5957 7252-7254 IN denotes to
T5958 7255-7256 DT denotes a
T5960 7257-7266 JJ denotes biallelic
T5959 7267-7275 NN denotes paradigm
T5961 7276-7279 IN denotes for
T5962 7280-7288 NN denotes compound
T5964 7289-7301 JJ denotes heterozygous
T5963 7302-7310 NNS denotes patients
T5965 7311-7313 IN denotes in
T5966 7314-7316 NN denotes XP
T5968 7317-7332 NN denotes complementation
T5969 7333-7338 NN denotes group
T5967 7339-7340 NN denotes D
T5970 7340-7341 . denotes .
T9280 7352-7360 NN denotes Genotype
T9282 7360-7361 HYPH denotes –
T9281 7361-7370 NN denotes Phenotype
T9283 7371-7384 NNS denotes Relationships
T9284 7385-7387 IN denotes in
T9285 7388-7391 NN denotes XPD
T9286 7392-7401 NNS denotes Disorders
T9287 7401-7514 sentence denotes According to the current monoallelic hypothesis, phenotype is determined solely by the causative allele product.
T9288 7402-7411 VBG denotes According
T9290 7412-7414 IN denotes to
T9291 7415-7418 DT denotes the
T9293 7419-7426 JJ denotes current
T9294 7427-7438 JJ denotes monoallelic
T9292 7439-7449 NN denotes hypothesis
T9295 7449-7451 , denotes ,
T9296 7451-7460 NN denotes phenotype
T9297 7461-7463 VBZ denotes is
T9289 7464-7474 VBN denotes determined
T9298 7475-7481 RB denotes solely
T9299 7482-7484 IN denotes by
T9300 7485-7488 DT denotes the
T9302 7489-7498 JJ denotes causative
T9303 7499-7505 NN denotes allele
T9301 7506-7513 NN denotes product
T9304 7513-7514 . denotes .
T9305 7514-7592 sentence denotes If a second, different allele is present, it is considered a functional null.
T9306 7515-7517 IN denotes If
T9308 7518-7519 DT denotes a
T9310 7520-7526 JJ denotes second
T9311 7526-7528 , denotes ,
T9312 7528-7537 JJ denotes different
T9309 7538-7544 NN denotes allele
T9307 7545-7547 VBZ denotes is
T9314 7548-7555 JJ denotes present
T9315 7555-7557 , denotes ,
T9316 7557-7559 PRP denotes it
T9317 7560-7562 VBZ denotes is
T9313 7563-7573 VBN denotes considered
T9318 7574-7575 DT denotes a
T9320 7576-7586 JJ denotes functional
T9319 7587-7591 NN denotes null
T9321 7591-7592 . denotes .
T9322 7592-7692 sentence denotes There is a lack of any correlation between the site of the XPD mutation and the resulting disorder.
T9323 7593-7598 EX denotes There
T9324 7599-7601 VBZ denotes is
T9325 7602-7603 DT denotes a
T9326 7604-7608 NN denotes lack
T9327 7609-7611 IN denotes of
T9328 7612-7615 DT denotes any
T9329 7616-7627 NN denotes correlation
T9330 7628-7635 IN denotes between
T9331 7636-7639 DT denotes the
T9332 7640-7644 NN denotes site
T9333 7645-7647 IN denotes of
T9334 7648-7651 DT denotes the
T9336 7652-7655 NN denotes XPD
T9335 7656-7664 NN denotes mutation
T9337 7665-7668 CC denotes and
T9338 7669-7672 DT denotes the
T9340 7673-7682 VBG denotes resulting
T9339 7683-7691 NN denotes disorder
T9341 7691-7692 . denotes .
T9342 7692-7808 sentence denotes We propose a biallelic hypothesis for compound heterozygotes in which both alleles can contribute to the phenotype.
T9343 7693-7695 PRP denotes We
T9344 7696-7703 VBP denotes propose
T9345 7704-7705 DT denotes a
T9347 7706-7715 JJ denotes biallelic
T9346 7716-7726 NN denotes hypothesis
T9348 7727-7730 IN denotes for
T9349 7731-7739 NN denotes compound
T9350 7740-7753 NNS denotes heterozygotes
T9351 7754-7756 IN denotes in
T9353 7757-7762 WDT denotes which
T9354 7763-7767 DT denotes both
T9355 7768-7775 NNS denotes alleles
T9356 7776-7779 MD denotes can
T9352 7780-7790 VB denotes contribute
T9357 7791-7793 IN denotes to
T9358 7794-7797 DT denotes the
T9359 7798-7807 NN denotes phenotype
T9360 7807-7808 . denotes .
T9361 7808-8045 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 7809-7817 NNS denotes Examples
T9364 7818-7820 IN denotes of
T9365 7821-7829 NN denotes compound
T9367 7830-7842 JJ denotes heterozygous
T9366 7843-7851 NNS denotes patients
T9368 7852-7854 IN denotes in
T9370 7855-7860 WDT denotes which
T9371 7861-7862 DT denotes a
T9373 7863-7869 JJ denotes second
T9374 7869-7871 , denotes ,
T9375 7871-7879 JJ denotes presumed
T9376 7880-7884 JJ denotes null
T9372 7885-7891 NN denotes allele
T9369 7892-7894 VBZ denotes is
T9377 7895-7901 JJ denotes likely
T9378 7902-7904 TO denotes to
T9379 7905-7915 VB denotes contribute
T9380 7916-7918 IN denotes to
T9381 7919-7926 NN denotes disease
T9382 7927-7934 NN denotes outcome
T9383 7935-7938 VBP denotes are
T9363 7939-7947 VBN denotes provided
T9384 7948-7953 RB denotes above
T9385 7954-7956 IN denotes in
T9386 7957-7967 NN denotes comparison
T9387 7968-7970 IN denotes to
T9388 7971-7984 VBG denotes corresponding
T9390 7985-7989 AFX denotes homo
T9392 7989-7990 HYPH denotes -
T9393 7991-7993 CC denotes or
T9391 7994-8004 JJ denotes hemizygous
T9389 8005-8013 NNS denotes patients
T9394 8014-8018 IN denotes with
T9395 8019-8022 DT denotes the
T9397 8023-8027 JJ denotes same
T9398 8028-8037 JJ denotes causative
T9396 8038-8044 NN denotes allele
T9399 8044-8045 . denotes .
T9400 8045-8116 sentence denotes Numbers in the schematic of the protein indicate the helicase domains.
T9401 8046-8053 NNS denotes Numbers
T9403 8054-8056 IN denotes in
T9404 8057-8060 DT denotes the
T9405 8061-8070 NN denotes schematic
T9406 8071-8073 IN denotes of
T9407 8074-8077 DT denotes the
T9408 8078-8085 NN denotes protein
T9402 8086-8094 VBP denotes indicate
T9409 8095-8098 DT denotes the
T9411 8099-8107 NN denotes helicase
T9410 8108-8115 NNS denotes domains
T9412 8115-8116 . denotes .
T6041 8118-8127 NN denotes Potential
T6042 8128-8130 IN denotes of
T6043 8131-8139 VBN denotes Combined
T6045 8140-8149 JJ denotes Recessive
T6044 8150-8157 NNS denotes Alleles
T6046 8158-8160 TO denotes to
T6047 8161-8167 VB denotes Affect
T6048 8168-8178 JJ denotes Phenotypic
T6049 8179-8188 NN denotes Diversity
T6050 8189-8191 IN denotes in
T6051 8192-8199 NNS denotes Mammals
T6052 8199-8308 sentence denotes In humans, the clinical relevance of biallelic effects such as interallelic complementation remains unknown.
T6053 8200-8202 IN denotes In
T6055 8203-8209 NNS denotes humans
T6056 8209-8211 , denotes ,
T6057 8211-8214 DT denotes the
T6059 8215-8223 JJ denotes clinical
T6058 8224-8233 NN denotes relevance
T6060 8234-8236 IN denotes of
T6061 8237-8246 JJ denotes biallelic
T6062 8247-8254 NNS denotes effects
T6063 8255-8259 JJ denotes such
T6064 8260-8262 IN denotes as
T6065 8263-8275 JJ denotes interallelic
T6066 8276-8291 NN denotes complementation
T6054 8292-8299 VBZ denotes remains
T6067 8300-8307 JJ denotes unknown
T6068 8307-8308 . denotes .
T6069 8308-8552 sentence denotes Although interallelic complementation between two endogenous mutant alleles has been described in cells from a compound heterozygous patient with methylmalonic acidaemia, no observable effects on disease outcome were noted in the patient [28].
T6070 8309-8317 IN denotes Although
T6072 8318-8330 JJ denotes interallelic
T6073 8331-8346 NN denotes complementation
T6074 8347-8354 IN denotes between
T6075 8355-8358 CD denotes two
T6077 8359-8369 JJ denotes endogenous
T6078 8370-8376 JJ denotes mutant
T6076 8377-8384 NNS denotes alleles
T6079 8385-8388 VBZ denotes has
T6080 8389-8393 VBN denotes been
T6071 8394-8403 VBN denotes described
T6082 8404-8406 IN denotes in
T6083 8407-8412 NNS denotes cells
T6084 8413-8417 IN denotes from
T6085 8418-8419 DT denotes a
T6087 8420-8428 NN denotes compound
T6088 8429-8441 JJ denotes heterozygous
T6086 8442-8449 NN denotes patient
T6089 8450-8454 IN denotes with
T6090 8455-8468 JJ denotes methylmalonic
T6091 8469-8478 NN denotes acidaemia
T6092 8478-8480 , denotes ,
T6093 8480-8482 DT denotes no
T6095 8483-8493 JJ denotes observable
T6094 8494-8501 NNS denotes effects
T6096 8502-8504 IN denotes on
T6097 8505-8512 NN denotes disease
T6098 8513-8520 NN denotes outcome
T6099 8521-8525 VBD denotes were
T6081 8526-8531 VBN denotes noted
T6100 8532-8534 IN denotes in
T6101 8535-8538 DT denotes the
T6102 8539-8546 NN denotes patient
T6103 8547-8548 -LRB- denotes [
T6104 8548-8550 CD denotes 28
T6105 8550-8551 -RRB- denotes ]
T6106 8551-8552 . denotes .
T6107 8552-8770 sentence denotes Thus, to the best of our knowledge, the amelioration of progeroid features observed here is the first in vivo demonstration in compound heterozygous animals of interallelic complementation relevant to a human disease.
T6108 8553-8557 RB denotes Thus
T6110 8557-8559 , denotes ,
T6111 8559-8561 IN denotes to
T6112 8562-8565 DT denotes the
T6113 8566-8570 JJS denotes best
T6114 8571-8573 IN denotes of
T6115 8574-8577 PRP$ denotes our
T6116 8578-8587 NN denotes knowledge
T6117 8587-8589 , denotes ,
T6118 8589-8592 DT denotes the
T6119 8593-8605 NN denotes amelioration
T6120 8606-8608 IN denotes of
T6121 8609-8618 JJ denotes progeroid
T6122 8619-8627 NNS denotes features
T6123 8628-8636 VBN denotes observed
T6124 8637-8641 RB denotes here
T6109 8642-8644 VBZ denotes is
T6125 8645-8648 DT denotes the
T6127 8649-8654 JJ denotes first
T6128 8655-8657 FW denotes in
T6129 8658-8662 FW denotes vivo
T6126 8663-8676 NN denotes demonstration
T6130 8677-8679 IN denotes in
T6131 8680-8688 NN denotes compound
T6133 8689-8701 JJ denotes heterozygous
T6132 8702-8709 NNS denotes animals
T6134 8710-8712 IN denotes of
T6135 8713-8725 JJ denotes interallelic
T6136 8726-8741 NN denotes complementation
T6137 8742-8750 JJ denotes relevant
T6138 8751-8753 IN denotes to
T6139 8754-8755 DT denotes a
T6141 8756-8761 JJ denotes human
T6140 8762-8769 NN denotes disease
T6142 8769-8770 . denotes .
T6143 8770-9146 sentence denotes Keeping in mind that the ~1,200 alleles known to exist for the CTRF gene implicated in the common autosomal recessive disorder cystic fibrosis alone [29] can theoretically result in ~700,000 different allelic combinations, the potential number of allelic combinations of different recessive mutations and single nucleotide polymorphisms genome-wide is currently incalculable.
T6144 8771-8778 VBG denotes Keeping
T6146 8779-8781 IN denotes in
T6147 8782-8786 NN denotes mind
T6148 8787-8791 IN denotes that
T6150 8792-8795 DT denotes the
T6152 8796-8797 SYM denotes ~
T6153 8797-8802 CD denotes 1,200
T6151 8803-8810 NNS denotes alleles
T6154 8811-8816 VBN denotes known
T6155 8817-8819 TO denotes to
T6156 8820-8825 VB denotes exist
T6157 8826-8829 IN denotes for
T6158 8830-8833 DT denotes the
T6160 8834-8838 NN denotes CTRF
T6159 8839-8843 NN denotes gene
T6161 8844-8854 VBN denotes implicated
T6162 8855-8857 IN denotes in
T6163 8858-8861 DT denotes the
T6165 8862-8868 JJ denotes common
T6166 8869-8878 JJ denotes autosomal
T6167 8879-8888 JJ denotes recessive
T6164 8889-8897 NN denotes disorder
T6168 8898-8904 JJ denotes cystic
T6169 8905-8913 NN denotes fibrosis
T6170 8914-8919 RB denotes alone
T6171 8920-8921 -LRB- denotes [
T6172 8921-8923 CD denotes 29
T6173 8923-8924 -RRB- denotes ]
T6174 8925-8928 MD denotes can
T6175 8929-8942 RB denotes theoretically
T6149 8943-8949 VB denotes result
T6176 8950-8952 IN denotes in
T6177 8953-8954 SYM denotes ~
T6178 8954-8961 CD denotes 700,000
T6180 8962-8971 JJ denotes different
T6181 8972-8979 JJ denotes allelic
T6179 8980-8992 NNS denotes combinations
T6182 8992-8994 , denotes ,
T6183 8994-8997 DT denotes the
T6185 8998-9007 JJ denotes potential
T6184 9008-9014 NN denotes number
T6186 9015-9017 IN denotes of
T6187 9018-9025 JJ denotes allelic
T6188 9026-9038 NNS denotes combinations
T6189 9039-9041 IN denotes of
T6190 9042-9051 JJ denotes different
T6192 9052-9061 JJ denotes recessive
T6191 9062-9071 NNS denotes mutations
T6193 9072-9075 CC denotes and
T6194 9076-9082 JJ denotes single
T6196 9083-9093 NN denotes nucleotide
T6195 9094-9107 NNS denotes polymorphisms
T6197 9108-9114 NN denotes genome
T6199 9114-9115 HYPH denotes -
T6198 9115-9119 JJ denotes wide
T6145 9120-9122 VBZ denotes is
T6200 9123-9132 RB denotes currently
T6201 9133-9145 JJ denotes incalculable
T6202 9145-9146 . denotes .
T6203 9146-9353 sentence denotes We suggest biallelic effects as a previously underestimated yet important variable in considering genotype–phenotype relationships from autosomal recessive disease to normal phenotypic diversity in mammals.
T6204 9147-9149 PRP denotes We
T6205 9150-9157 VBP denotes suggest
T6206 9158-9167 JJ denotes biallelic
T6207 9168-9175 NNS denotes effects
T6208 9176-9178 IN denotes as
T6209 9179-9180 DT denotes a
T6211 9181-9191 RB denotes previously
T6212 9192-9206 VBN denotes underestimated
T6214 9207-9210 RB denotes yet
T6213 9211-9220 JJ denotes important
T6210 9221-9229 NN denotes variable
T6215 9230-9232 IN denotes in
T6216 9233-9244 VBG denotes considering
T6217 9245-9253 NN denotes genotype
T6219 9253-9254 HYPH denotes –
T6218 9254-9263 NN denotes phenotype
T6220 9264-9277 NNS denotes relationships
T6221 9278-9282 IN denotes from
T6222 9283-9292 JJ denotes autosomal
T6224 9293-9302 JJ denotes recessive
T6223 9303-9310 NN denotes disease
T6225 9311-9313 IN denotes to
T6226 9314-9320 JJ denotes normal
T6228 9321-9331 JJ denotes phenotypic
T6227 9332-9341 NN denotes diversity
T6229 9342-9344 IN denotes in
T6230 9345-9352 NNS denotes mammals
T6231 9352-9353 . denotes .
T6232 9353-9530 sentence denotes Extension of the above concept implies that recessive mutations can enter evolutionary selection in F1 provided that the second allele carries a different recessive alteration.
T6233 9354-9363 NN denotes Extension
T6235 9364-9366 IN denotes of
T6236 9367-9370 DT denotes the
T6238 9371-9376 JJ denotes above
T6237 9377-9384 NN denotes concept
T6234 9385-9392 VBZ denotes implies
T6239 9393-9397 IN denotes that
T6241 9398-9407 JJ denotes recessive
T6242 9408-9417 NNS denotes mutations
T6243 9418-9421 MD denotes can
T6240 9422-9427 VB denotes enter
T6244 9428-9440 JJ denotes evolutionary
T6245 9441-9450 NN denotes selection
T6246 9451-9453 IN denotes in
T6247 9454-9456 NN denotes F1
T6248 9457-9465 VBN denotes provided
T6249 9466-9470 IN denotes that
T6251 9471-9474 DT denotes the
T6253 9475-9481 JJ denotes second
T6252 9482-9488 NN denotes allele
T6250 9489-9496 VBZ denotes carries
T6254 9497-9498 DT denotes a
T6256 9499-9508 JJ denotes different
T6257 9509-9518 JJ denotes recessive
T6255 9519-9529 NN denotes alteration
T6258 9529-9530 . denotes .
T6259 9530-9727 sentence denotes Finally, our data highlight the potential of clinically relevant alleles previously designated as null, with little or no detectable expression or activity, to nonetheless contribute to phenotype.
T6260 9531-9538 RB denotes Finally
T6262 9538-9540 , denotes ,
T6263 9540-9543 PRP$ denotes our
T6264 9544-9548 NNS denotes data
T6261 9549-9558 VBP denotes highlight
T6265 9559-9562 DT denotes the
T6266 9563-9572 NN denotes potential
T6267 9573-9575 IN denotes of
T6268 9576-9586 RB denotes clinically
T6269 9587-9595 JJ denotes relevant
T6270 9596-9603 NNS denotes alleles
T6271 9604-9614 RB denotes previously
T6272 9615-9625 VBN denotes designated
T6273 9626-9628 IN denotes as
T6274 9629-9633 JJ denotes null
T6275 9633-9635 , denotes ,
T6276 9635-9639 IN denotes with
T6277 9640-9646 JJ denotes little
T6279 9647-9649 CC denotes or
T6280 9650-9652 DT denotes no
T6281 9653-9663 JJ denotes detectable
T6278 9664-9674 NN denotes expression
T6282 9675-9677 CC denotes or
T6283 9678-9686 NN denotes activity
T6284 9686-9688 , denotes ,
T6285 9688-9690 TO denotes to
T6287 9691-9702 RB denotes nonetheless
T6286 9703-9713 VB denotes contribute
T6288 9714-9716 IN denotes to
T6289 9717-9726 NN denotes phenotype
T6290 9726-9727 . denotes .
R2877 T4260 T4259 prep of,Dissection
R2878 T4261 T4262 amod Biallelic,Effects
R2879 T4262 T4260 pobj Effects,of
R2880 T4263 T4259 prep from,Dissection
R2881 T4264 T4265 amod other,Determinants
R2882 T4265 T4263 pobj Determinants,from
R2883 T4266 T4265 prep of,Determinants
R2884 T4267 T4266 pobj Phenotype,of
R2885 T4269 T4270 mark Although,postulated
R2886 T4270 T4293 advcl postulated,been
R2887 T4271 T4272 amod phenotypic,consequences
R2888 T4272 T4270 nsubjpass consequences,postulated
R2889 T4273 T4272 punct ", ",consequences
R2890 T4274 T4272 acl referred,consequences
R2891 T4275 T4274 prep to,referred
R2892 T4276 T4274 advmod here,referred
R2893 T4277 T4274 prep as,referred
R2894 T4278 T4279 amod biallelic,effects
R2895 T4279 T4277 pobj effects,as
R2896 T4280 T4272 punct ", ",consequences
R2897 T4281 T4272 acl resulting,consequences
R2898 T4282 T4281 prep from,resulting
R2899 T4283 T4284 nummod two,alleles
R2900 T4284 T4282 pobj alleles,from
R2901 T4285 T4284 amod different,alleles
R2902 T4286 T4284 amod mutant,alleles
R2903 T4287 T4284 prep in,alleles
R2904 T4288 T4289 compound compound,patients
R2905 T4289 T4287 pobj patients,in
R2906 T4290 T4289 compound heterozygote,patients
R2907 T4291 T4270 aux have,postulated
R2908 T4292 T4270 auxpass been,postulated
R2909 T4294 T4293 punct ", ",been
R2910 T4295 T4296 amod such,effects
R2911 T4296 T4293 nsubj effects,been
R2912 T4297 T4293 aux have,been
R2913 T4298 T4293 advmod historically,been
R2914 T4299 T4293 acomp difficult,been
R2915 T4300 T4301 aux to,distinguish
R2916 T4301 T4299 xcomp distinguish,difficult
R2917 T4302 T4301 prep from,distinguish
R2918 T4303 T4304 det the,influence
R2919 T4304 T4302 pobj influence,from
R2920 T4305 T4304 prep of,influence
R2921 T4306 T4305 pobj environment,of
R2922 T4307 T4306 cc and,environment
R2923 T4308 T4309 amod genetic,background
R2924 T4309 T4306 conj background,environment
R2925 T4310 T4293 punct .,been
R2926 T4312 T4313 nsubj We,used
R2927 T4314 T4315 det a,system
R2928 T4315 T4313 dobj system,used
R2929 T4316 T4317 advmod genetically,defined
R2930 T4317 T4315 amod defined,system
R2931 T4318 T4315 amod mammalian,system
R2932 T4319 T4315 compound model,system
R2933 T4320 T4313 prep under,used
R2934 T4321 T4322 amod controlled,conditions
R2935 T4322 T4320 pobj conditions,under
R2936 T4323 T4322 amod environmental,conditions
R2937 T4324 T4325 aux to,reveal
R2938 T4325 T4313 advcl reveal,used
R2939 T4326 T4327 amod phenotypic,effects
R2940 T4327 T4325 dobj effects,reveal
R2941 T4328 T4327 amod attributable,effects
R2942 T4329 T4330 advmod specifically,to
R2943 T4330 T4328 prep to,attributable
R2944 T4331 T4330 pobj combinations,to
R2945 T4332 T4331 prep of,combinations
R2946 T4333 T4334 advmod differentially,mutated
R2947 T4334 T4335 amod mutated,alleles
R2948 T4335 T4332 pobj alleles,of
R2949 T4336 T4335 compound Xpd,alleles
R2950 T4337 T4313 punct .,used
R2951 T4339 T4340 det The,effects
R2952 T4340 T4343 nsubj effects,were
R2953 T4341 T4340 amod observed,effects
R2954 T4342 T4340 amod biallelic,effects
R2955 T4344 T4343 prep of,were
R2956 T4345 T4346 nummod three,types
R2957 T4346 T4344 pobj types,of
R2958 T4347 T4346 amod general,types
R2959 T4348 T4343 punct .,were
R2960 T4350 T4351 prep In,determined
R2961 T4352 T4353 det the,first
R2962 T4353 T4350 pobj first,In
R2963 T4354 T4351 punct ", ",determined
R2964 T4355 T4356 det the,allele
R2965 T4356 T4351 nsubj allele,determined
R2966 T4357 T4356 acl associated,allele
R2967 T4358 T4357 prep in,associated
R2968 T4359 T4360 det a,state
R2969 T4360 T4358 pobj state,in
R2970 T4361 T4360 amod homozygous,state
R2971 T4362 T4357 prep with,associated
R2972 T4363 T4364 det a,phenotype
R2973 T4364 T4362 pobj phenotype,with
R2974 T4365 T4366 advmod closer,to
R2975 T4366 T4364 amod to,phenotype
R2976 T4367 T4366 pobj wt,to
R2977 T4368 T4351 advmod singularly,determined
R2978 T4369 T4370 det the,outcome
R2979 T4370 T4351 dobj outcome,determined
R2980 T4371 T4370 amod phenotypic,outcome
R2981 T4372 T4351 punct ", ",determined
R2982 T4373 T4374 det a,phenomenon
R2983 T4374 T4351 npadvmod phenomenon,determined
R2984 T4375 T4376 advmod widely,known
R2985 T4376 T4374 acl known,phenomenon
R2986 T4377 T4376 prep in,known
R2987 T4378 T4379 amod human,disease
R2988 T4379 T4377 pobj disease,in
R2989 T4380 T4379 amod recessive,disease
R2990 T4381 T4351 punct .,determined
R2991 T4383 T4384 mark Because,functioned
R2992 T4384 T4388 advcl functioned,call
R2993 T4385 T4386 det these,alleles
R2994 T4386 T4384 nsubj alleles,functioned
R2995 T4387 T4386 compound Xpd,alleles
R2996 T4389 T4384 prep at,functioned
R2997 T4390 T4389 cc or,at
R2998 T4391 T4389 conj near,at
R2999 T4392 T4393 compound wt,levels
R3000 T4393 T4391 pobj levels,near
R3001 T4394 T4384 prep with,functioned
R3002 T4395 T4394 pobj respect,with
R3003 T4396 T4395 prep to,respect
R3004 T4397 T4398 det a,function
R3005 T4398 T4396 pobj function,to
R3006 T4399 T4398 amod particular,function
R3007 T4400 T4388 punct ", ",call
R3008 T4401 T4388 nsubj we,call
R3009 T4402 T4403 det these,effects
R3010 T4403 T4388 dobj effects,call
R3011 T4404 T4388 punct “,call
R3012 T4405 T4388 oprd dominant,call
R3013 T4406 T4388 punct ”,call
R3014 T4407 T4388 punct .,call
R3015 T4409 T4410 amod Such,alleles
R3016 T4410 T4411 nsubjpass alleles,referred
R3017 T4412 T4411 aux can,referred
R3018 T4413 T4411 advmod also,referred
R3019 T4414 T4411 auxpass be,referred
R3020 T4415 T4411 prep to,referred
R3021 T4416 T4411 prep as,referred
R3022 T4417 T4418 punct “,alleles
R3023 T4418 T4416 pobj alleles,as
R3024 T4419 T4418 nmod separation,alleles
R3025 T4420 T4419 prep of,separation
R3026 T4421 T4420 pobj function,of
R3027 T4422 T4418 punct ”,alleles
R3028 T4423 T4411 punct ", ",referred
R3029 T4424 T4425 mark because,allow
R3030 T4425 T4411 advcl allow,referred
R3031 T4426 T4425 nsubj they,allow
R3032 T4427 T4425 dobj dissection,allow
R3033 T4428 T4427 prep of,dissection
R3034 T4429 T4430 det the,roles
R3035 T4430 T4428 pobj roles,of
R3036 T4431 T4430 prep of,roles
R3037 T4432 T4433 amod multifunctional,proteins
R3038 T4433 T4431 pobj proteins,of
R3039 T4434 T4425 prep in,allow
R3040 T4435 T4436 amod specific,phenotypes
R3041 T4436 T4434 pobj phenotypes,in
R3042 T4437 T4411 punct .,referred
R3043 T4439 T4440 advmod Secondly,was
R3044 T4441 T4440 punct ", ",was
R3045 T4442 T4440 dep highlighting,was
R3046 T4443 T4444 det the,relevance
R3047 T4444 T4442 dobj relevance,highlighting
R3048 T4445 T4444 amod potential,relevance
R3049 T4446 T4444 prep of,relevance
R3050 T4447 T4448 amod current,findings
R3051 T4448 T4446 pobj findings,of
R3052 T4449 T4444 prep to,relevance
R3053 T4450 T4451 det all,organisms
R3054 T4451 T4449 pobj organisms,to
R3055 T4452 T4451 amod diploid,organisms
R3056 T4453 T4451 prep including,organisms
R3057 T4454 T4453 pobj humans,including
R3058 T4455 T4456 det the,observation
R3059 T4456 T4440 nsubj observation,was
R3060 T4457 T4458 mark that,shift
R3061 T4458 T4456 acl shift,observation
R3062 T4459 T4458 prep in,shift
R3063 T4460 T4461 nummod one,animal
R3064 T4461 T4459 pobj animal,in
R3065 T4462 T4461 nmod compound,animal
R3066 T4463 T4461 amod heterozygous,animal
R3067 T4464 T4458 punct ", ",shift
R3068 T4465 T4466 det the,relationship
R3069 T4466 T4458 nsubj relationship,shift
R3070 T4467 T4466 nmod Xpd,relationship
R3071 T4468 T4466 amod allelic,relationship
R3072 T4469 T4458 aux could,shift
R3073 T4470 T4458 prep from,shift
R3074 T4471 T4472 amod A dominant,a recessive
R3075 T4472 T4470 pobj a recessive,from
R3076 T4473 T4472 punct |,a recessive
R3077 T4474 T4470 prep to,from
R3078 T4475 T4476 amod A recessive,a dominant
R3079 T4476 T4474 pobj a dominant,to
R3080 T4477 T4476 punct |,a dominant
R3081 T4478 T4458 prep with,shift
R3082 T4479 T4478 pobj respect,with
R3083 T4480 T4479 prep to,respect
R3084 T4481 T4482 amod different,phenotypes
R3085 T4482 T4480 pobj phenotypes,to
R3086 T4483 T4458 prep in,shift
R3087 T4484 T4485 det a,manner
R3088 T4485 T4483 pobj manner,in
R3089 T4486 T4487 npadvmod time,dependent
R3090 T4487 T4485 amod dependent,manner
R3091 T4488 T4487 punct -,dependent
R3092 T4489 T4487 cc and,dependent
R3093 T4490 T4491 npadvmod tissue,specific
R3094 T4491 T4487 conj specific,dependent
R3095 T4492 T4491 punct -,specific
R3096 T4493 T4494 punct (,see
R3097 T4494 T4458 parataxis see,shift
R3098 T4495 T4496 advmod below,Table
R3099 T4496 T4494 dobj Table,see
R3100 T4497 T4496 cc and,Table
R3101 T4498 T4496 nummod 2,Table
R3102 T4499 T4494 punct ),see
R3103 T4500 T4440 punct .,was
R3104 T4502 T4503 prep In,produced
R3105 T4504 T4505 det the,type
R3106 T4505 T4502 pobj type,In
R3107 T4506 T4505 amod third,type
R3108 T4507 T4505 prep of,type
R3109 T4508 T4509 amod biallelic,effect
R3110 T4509 T4507 pobj effect,of
R3111 T4510 T4505 punct ", ",type
R3112 T4511 T4505 acl known,type
R3113 T4512 T4511 prep as,known
R3114 T4513 T4514 amod interallelic,complementation
R3115 T4514 T4512 pobj complementation,as
R3116 T4515 T4503 punct ", ",produced
R3117 T4516 T4517 nummod two,alleles
R3118 T4517 T4503 nsubj alleles,produced
R3119 T4518 T4517 amod mutant,alleles
R3120 T4519 T4520 det a,phenotype
R3121 T4520 T4503 dobj phenotype,produced
R3122 T4521 T4522 advmod closer,to
R3123 T4522 T4520 amod to,phenotype
R3124 T4523 T4522 pobj wt,to
R3125 T4524 T4525 mark than,alone
R3126 T4525 T4522 advcl alone,to
R3127 T4526 T4525 nsubj either,alone
R3128 T4527 T4525 aux could,alone
R3129 T4528 T4525 prep in,alone
R3130 T4529 T4530 det a,state
R3131 T4530 T4528 pobj state,in
R3132 T4531 T4532 advmod homo,hemizygous
R3133 T4532 T4530 amod hemizygous,state
R3134 T4533 T4532 punct -,hemizygous
R3135 T4534 T4532 cc or,hemizygous
R3136 T4535 T4503 punct .,produced
R3137 T4537 T4538 mark As,summarised
R3138 T4538 T4539 advcl summarised,observed
R3139 T4540 T4538 prep in,summarised
R3140 T4541 T4540 pobj Table,in
R3141 T4542 T4541 nummod 2,Table
R3142 T4543 T4539 punct ", ",observed
R3143 T4544 T4539 nsubjpass examples,observed
R3144 T4545 T4544 prep of,examples
R3145 T4546 T4547 det all,types
R3146 T4547 T4545 pobj types,of
R3147 T4548 T4547 prep of,types
R3148 T4549 T4550 amod biallelic,effects
R3149 T4550 T4548 pobj effects,of
R3150 T4551 T4539 auxpass were,observed
R3151 T4552 T4539 prep in,observed
R3152 T4553 T4554 det a,variety
R3153 T4554 T4552 pobj variety,in
R3154 T4555 T4554 prep of,variety
R3155 T4556 T4557 npadvmod Xpd,associated
R3156 T4557 T4559 amod associated,phenotypes
R3157 T4558 T4557 punct -,associated
R3158 T4559 T4555 pobj phenotypes,of
R3159 T4560 T4554 punct ", ",variety
R3160 T4561 T4554 acl ranging,variety
R3161 T4562 T4561 prep from,ranging
R3162 T4563 T4564 amod brittle,hair
R3163 T4564 T4562 pobj hair,from
R3164 T4565 T4562 prep to,from
R3165 T4566 T4567 amod segmental,progeria
R3166 T4567 T4565 pobj progeria,to
R3167 T4568 T4539 punct .,observed
R3180 T4806 T4805 prep in,TFIIH
R3181 T4807 T4806 pobj Transcription,in
R3182 T4808 T4807 cc and,Transcription
R3183 T4809 T4807 conj Repair,Transcription
R3184 T4810 T4805 punct : ,TFIIH
R3185 T4811 T4805 appos Mechanisms,TFIIH
R3186 T4812 T4811 prep of,Mechanisms
R3187 T4813 T4814 compound XPD,Pleiotropy
R3188 T4814 T4812 pobj Pleiotropy,of
R3189 T4815 T4814 compound Disease,Pleiotropy
R3190 T4817 T4818 nsubj We,observed
R3191 T4819 T4818 dobj differences,observed
R3192 T4820 T4819 prep in,differences
R3193 T4821 T4822 det the,ability
R3194 T4822 T4820 pobj ability,in
R3195 T4823 T4822 prep of,ability
R3196 T4824 T4823 pobj XpdTTD,of
R3197 T4825 T4824 cc versus,XpdTTD
R3198 T4826 T4827 amod homozygous,alleles
R3199 T4827 T4824 conj alleles,XpdTTD
R3200 T4828 T4827 amod lethal,alleles
R3201 T4829 T4827 nmod Xpd†XPCS,alleles
R3202 T4830 T4829 cc and,Xpd†XPCS
R3203 T4831 T4829 conj Xpd†XP,Xpd†XPCS
R3204 T4832 T4833 aux to,function
R3205 T4833 T4822 acl function,ability
R3206 T4834 T4833 prep in,function
R3207 T4835 T4836 nummod two,phenotypes
R3208 T4836 T4834 pobj phenotypes,in
R3209 T4837 T4838 npadvmod transcription,related
R3210 T4838 T4836 amod related,phenotypes
R3211 T4839 T4838 punct -,related
R3212 T4840 T4836 acl separated,phenotypes
R3213 T4841 T4840 prep in,separated
R3214 T4842 T4843 det the,organism
R3215 T4843 T4841 pobj organism,in
R3216 T4844 T4840 prep by,separated
R3217 T4845 T4846 preconj both,time
R3218 T4846 T4844 pobj time,by
R3219 T4847 T4846 cc and,time
R3220 T4848 T4846 conj space,time
R3221 T4849 T4819 punct : ,differences
R3222 T4850 T4851 amod embryonic,lethality
R3223 T4851 T4819 appos lethality,differences
R3224 T4852 T4851 cc and,lethality
R3225 T4853 T4854 amod terminal,differentiation
R3226 T4854 T4851 conj differentiation,lethality
R3227 T4855 T4854 prep of,differentiation
R3228 T4856 T4857 amod enucleating,skin
R3229 T4857 T4855 pobj skin,of
R3230 T4858 T4857 cc and,skin
R3231 T4859 T4860 compound blood,cells
R3232 T4860 T4857 conj cells,skin
R3233 T4861 T4818 punct .,observed
R3234 T4863 T4864 det The,lethality
R3235 T4864 T4869 nsubj lethality,reflects
R3236 T4865 T4866 nmod preblastocyst,stage
R3237 T4866 T4864 nmod stage,lethality
R3238 T4867 T4866 punct -,stage
R3239 T4868 T4864 amod homozygous,lethality
R3240 T4870 T4864 acl shared,lethality
R3241 T4871 T4870 agent by,shared
R3242 T4872 T4873 det the,alleles
R3243 T4873 T4871 pobj alleles,by
R3244 T4874 T4873 nmod XpdKO,alleles
R3245 T4875 T4874 punct ", ",XpdKO
R3246 T4876 T4874 conj Xpd†XPCS,XpdKO
R3247 T4877 T4876 punct ", ",Xpd†XPCS
R3248 T4878 T4876 cc and,Xpd†XPCS
R3249 T4879 T4876 conj Xpd†XP,Xpd†XPCS
R3250 T4880 T4881 advmod most,likely
R3251 T4881 T4869 advmod likely,reflects
R3252 T4882 T4883 det a,defect
R3253 T4883 T4869 dobj defect,reflects
R3254 T4884 T4883 prep in,defect
R3255 T4885 T4886 amod basal,transcription
R3256 T4886 T4884 pobj transcription,in
R3257 T4887 T4888 dep that,is
R3258 T4888 T4883 relcl is,defect
R3259 T4889 T4888 acomp incompatible,is
R3260 T4890 T4889 prep with,incompatible
R3261 T4891 T4890 pobj life,with
R3262 T4892 T4869 punct .,reflects
R3263 T4894 T4895 prep In,rescued
R3264 T4896 T4897 nmod XpdTTD, †XPCS
R3265 T4897 T4899 nmod  †XPCS,mice
R3266 T4898 T4897 punct /, †XPCS
R3267 T4899 T4894 pobj mice,In
R3268 T4900 T4897 cc and, †XPCS
R3269 T4901 T4902 compound XpdTTD, †XP
R3270 T4902 T4897 conj  †XP, †XPCS
R3271 T4903 T4902 punct /, †XP
R3272 T4904 T4899 nmod compound,mice
R3273 T4905 T4899 amod heterozygous,mice
R3274 T4906 T4895 punct ", ",rescued
R3275 T4907 T4908 amod embryonic,lethality
R3276 T4908 T4895 nsubjpass lethality,rescued
R3277 T4909 T4895 auxpass was,rescued
R3278 T4910 T4895 advmod fully,rescued
R3279 T4911 T4895 agent by,rescued
R3280 T4912 T4913 det the,allele
R3281 T4913 T4911 pobj allele,by
R3282 T4914 T4913 compound XpdTTD,allele
R3283 T4915 T4895 punct .,rescued
R3284 T4917 T4918 mark Because,rescued
R3285 T4918 T4924 advcl rescued,considered
R3286 T4919 T4920 amod embryonic,lethality
R3287 T4920 T4918 nsubjpass lethality,rescued
R3288 T4921 T4918 auxpass was,rescued
R3289 T4922 T4918 advmod also,rescued
R3290 T4923 T4918 advmod fully,rescued
R3291 T4925 T4918 prep in,rescued
R3292 T4926 T4927 nmod XpdTTD,KO
R3293 T4927 T4929 nmod KO,mice
R3294 T4928 T4927 punct /,KO
R3295 T4929 T4925 pobj mice,in
R3296 T4930 T4929 amod hemizygous,mice
R3297 T4931 T4924 punct ", ",considered
R3298 T4932 T4933 det the,allele
R3299 T4933 T4924 nsubjpass allele,considered
R3300 T4934 T4933 compound XpdTTD,allele
R3301 T4935 T4924 aux can,considered
R3302 T4936 T4924 auxpass be,considered
R3303 T4937 T4924 prep as,considered
R3304 T4938 T4937 pobj wt,as
R3305 T4939 T4938 cc and,wt
R3306 T4940 T4941 advmod thus,dominant
R3307 T4941 T4938 conj dominant,wt
R3308 T4942 T4941 prep to,dominant
R3309 T4943 T4942 pobj each,to
R3310 T4944 T4943 prep of,each
R3311 T4945 T4946 det the,alleles
R3312 T4946 T4944 pobj alleles,of
R3313 T4947 T4946 amod homozygous,alleles
R3314 T4948 T4946 amod lethal,alleles
R3315 T4949 T4950 punct (,XpdKO
R3316 T4950 T4946 parataxis XpdKO,alleles
R3317 T4951 T4950 punct ", ",XpdKO
R3318 T4952 T4950 conj Xpd†XPCS,XpdKO
R3319 T4953 T4952 punct ", ",Xpd†XPCS
R3320 T4954 T4952 cc and,Xpd†XPCS
R3321 T4955 T4952 conj Xpd†XP,Xpd†XPCS
R3322 T4956 T4950 punct ),XpdKO
R3323 T4957 T4941 prep with,dominant
R3324 T4958 T4957 pobj respect,with
R3325 T4959 T4958 prep to,respect
R3326 T4960 T4961 det this,phenotype
R3327 T4961 T4959 pobj phenotype,to
R3328 T4962 T4961 amod particular,phenotype
R3329 T4963 T4964 punct (,Table
R3330 T4964 T4924 parataxis Table,considered
R3331 T4965 T4964 nummod 2,Table
R3332 T4966 T4964 punct ),Table
R3333 T4967 T4924 punct .,considered
R3334 T4969 T4970 npadvmod TTD,specific
R3335 T4970 T4972 amod specific,features
R3336 T4971 T4970 punct -,specific
R3337 T4972 T4976 nsubjpass features,thought
R3338 T4973 T4972 amod cutaneous,features
R3339 T4974 T4973 cc and,cutaneous
R3340 T4975 T4973 conj anaemic,cutaneous
R3341 T4977 T4976 punct ", ",thought
R3342 T4978 T4976 prep on,thought
R3343 T4979 T4980 det the,hand
R3344 T4980 T4978 pobj hand,on
R3345 T4981 T4980 amod other,hand
R3346 T4982 T4976 punct ", ",thought
R3347 T4983 T4976 auxpass are,thought
R3348 T4984 T4985 aux to,result
R3349 T4985 T4976 xcomp result,thought
R3350 T4986 T4985 prep from,result
R3351 T4987 T4988 det a,kind
R3352 T4988 T4986 pobj kind,from
R3353 T4989 T4988 amod specific,kind
R3354 T4990 T4988 prep of,kind
R3355 T4991 T4992 amod transcriptional,insufficiency
R3356 T4992 T4990 pobj insufficiency,of
R3357 T4993 T4988 acl caused,kind
R3358 T4994 T4993 agent by,caused
R3359 T4995 T4994 pobj depletion,by
R3360 T4996 T4995 prep of,depletion
R3361 T4997 T4998 amod unstable,TFIIH
R3362 T4998 T4996 pobj TFIIH,of
R3363 T4999 T4995 prep during,depletion
R3364 T5000 T5001 det the,differentiation
R3365 T5001 T4999 pobj differentiation,during
R3366 T5002 T5001 amod terminal,differentiation
R3367 T5003 T5001 prep of,differentiation
R3368 T5004 T5005 nmod skin,cells
R3369 T5005 T5003 pobj cells,of
R3370 T5006 T5004 punct ", ",skin
R3371 T5007 T5008 compound hair,shaft
R3372 T5008 T5004 conj shaft,skin
R3373 T5009 T5008 punct -,shaft
R3374 T5010 T5008 punct ", ",shaft
R3375 T5011 T5008 cc and,shaft
R3376 T5012 T5008 conj blood,shaft
R3377 T5013 T5014 punct [,24
R3378 T5014 T4976 parataxis 24,thought
R3379 T5015 T5014 nummod 16,24
R3380 T5016 T5014 punct ",",24
R3381 T5017 T5014 punct ],24
R3382 T5018 T4976 punct .,thought
R3383 T5020 T5021 prep In,were
R3384 T5022 T5023 nmod compound,mice
R3385 T5023 T5020 pobj mice,In
R3386 T5024 T5023 amod heterozygous,mice
R3387 T5025 T5021 punct ", ",were
R3388 T5026 T5027 det both,alleles
R3389 T5027 T5021 nsubj alleles,were
R3390 T5028 T5027 amod homozygous,alleles
R3391 T5029 T5027 amod lethal,alleles
R3392 T5030 T5027 nmod Xpd†XPCS,alleles
R3393 T5031 T5030 cc and,Xpd†XPCS
R3394 T5032 T5030 conj Xpd†XP,Xpd†XPCS
R3395 T5033 T5021 acomp able,were
R3396 T5034 T5035 aux to,alleviate
R3397 T5035 T5033 xcomp alleviate,able
R3398 T5036 T5037 npadvmod XpdTTD,specific
R3399 T5037 T5039 amod specific,features
R3400 T5038 T5037 punct -,specific
R3401 T5039 T5035 dobj features,alleviate
R3402 T5040 T5039 amod cutaneous,features
R3403 T5041 T5040 cc and,cutaneous
R3404 T5042 T5040 conj anaemic,cutaneous
R3405 T5043 T5021 cc and,were
R3406 T5044 T5045 aux can,defined
R3407 T5045 T5021 conj defined,were
R3408 T5046 T5045 advmod thus,defined
R3409 T5047 T5045 auxpass be,defined
R3410 T5048 T5045 prep as,defined
R3411 T5049 T5048 amod dominant,as
R3412 T5050 T5045 prep over,defined
R3413 T5051 T5052 det the,allele
R3414 T5052 T5050 pobj allele,over
R3415 T5053 T5052 compound XpdTTD,allele
R3416 T5054 T5045 prep with,defined
R3417 T5055 T5054 pobj respect,with
R3418 T5056 T5055 prep to,respect
R3419 T5057 T5058 det these,phenotypes
R3420 T5058 T5056 pobj phenotypes,to
R3421 T5059 T5021 punct .,were
R3422 T5061 T5062 nsubj We,conclude
R3423 T5063 T5064 mark that,represent
R3424 T5064 T5062 ccomp represent,conclude
R3425 T5065 T5066 det the,defects
R3426 T5066 T5064 nsubj defects,represent
R3427 T5067 T5066 acl leading,defects
R3428 T5068 T5067 prep to,leading
R3429 T5069 T5070 amod embryonic,lethality
R3430 T5070 T5068 pobj lethality,to
R3431 T5071 T5070 cc and,lethality
R3432 T5072 T5073 amod aberrant,differentiation
R3433 T5073 T5070 conj differentiation,lethality
R3434 T5074 T5073 amod terminal,differentiation
R3435 T5075 T5073 prep of,differentiation
R3436 T5076 T5077 det the,skin
R3437 T5077 T5075 pobj skin,of
R3438 T5078 T5077 punct ", ",skin
R3439 T5079 T5077 conj hair,skin
R3440 T5080 T5079 punct ", ",hair
R3441 T5081 T5079 cc and,hair
R3442 T5082 T5079 conj blood,hair
R3443 T5083 T5084 nummod two,deficiencies
R3444 T5084 T5064 dobj deficiencies,represent
R3445 T5085 T5086 advmod qualitatively,different
R3446 T5086 T5084 amod different,deficiencies
R3447 T5087 T5085 cc and,qualitatively
R3448 T5088 T5087 punct /,and
R3449 T5089 T5087 cc or,and
R3450 T5090 T5085 conj quantitatively,qualitatively
R3451 T5091 T5084 amod transcriptional,deficiencies
R3452 T5092 T5062 punct .,conclude
R3453 T5094 T5095 prep During,is
R3454 T5096 T5097 amod early,development
R3455 T5097 T5094 pobj development,During
R3456 T5098 T5097 amod embryonic,development
R3457 T5099 T5095 punct ", ",is
R3458 T5100 T5095 nsubj XpdTTD,is
R3459 T5101 T5095 acomp dominant,is
R3460 T5102 T5101 prep over,dominant
R3461 T5103 T5104 det the,alleles
R3462 T5104 T5102 pobj alleles,over
R3463 T5105 T5104 nmod Xpd†XPCS,alleles
R3464 T5106 T5105 cc and,Xpd†XPCS
R3465 T5107 T5105 conj Xpd†XP,Xpd†XPCS
R3466 T5108 T5095 punct ", ",is
R3467 T5109 T5110 mark whereas,reversed
R3468 T5110 T5095 advcl reversed,is
R3469 T5111 T5110 advmod later,reversed
R3470 T5112 T5111 prep in,later
R3471 T5113 T5114 det the,ontogenesis
R3472 T5114 T5112 pobj ontogenesis,in
R3473 T5115 T5114 prep of,ontogenesis
R3474 T5116 T5115 pobj skin,of
R3475 T5117 T5116 punct ", ",skin
R3476 T5118 T5119 compound hair,shaft
R3477 T5119 T5116 conj shaft,skin
R3478 T5120 T5119 punct -,shaft
R3479 T5121 T5119 punct ", ",shaft
R3480 T5122 T5119 cc and,shaft
R3481 T5123 T5124 compound blood,cells
R3482 T5124 T5119 conj cells,shaft
R3483 T5125 T5110 punct ", ",reversed
R3484 T5126 T5127 det the,situation
R3485 T5127 T5110 nsubjpass situation,reversed
R3486 T5128 T5110 auxpass is,reversed
R3487 T5129 T5095 punct .,is
R3488 T5131 T5132 prep In,imparted
R3489 T5133 T5134 poss its,role
R3490 T5134 T5131 pobj role,In
R3491 T5135 T5134 prep in,role
R3492 T5136 T5137 det the,repair
R3493 T5137 T5135 pobj repair,in
R3494 T5138 T5137 prep of,repair
R3495 T5139 T5140 compound UV,photolesions
R3496 T5140 T5138 pobj photolesions,of
R3497 T5141 T5132 punct ", ",imparted
R3498 T5142 T5143 det the,allele
R3499 T5143 T5132 nsubj allele,imparted
R3500 T5144 T5143 compound Xpd†XPCS,allele
R3501 T5145 T5146 det a,benefit
R3502 T5146 T5132 dobj benefit,imparted
R3503 T5147 T5146 amod clear,benefit
R3504 T5148 T5146 compound UV,benefit
R3505 T5149 T5146 compound survival,benefit
R3506 T5150 T5146 prep over,benefit
R3507 T5151 T5152 det a,allele
R3508 T5152 T5150 pobj allele,over
R3509 T5153 T5152 amod single,allele
R3510 T5154 T5152 compound XpdTTD,allele
R3511 T5155 T5152 cc or,allele
R3512 T5156 T5157 nummod two,alleles
R3513 T5157 T5152 conj alleles,allele
R3514 T5158 T5157 compound XpdXPCS,alleles
R3515 T5159 T5146 amod independent,benefit
R3516 T5160 T5159 prep of,independent
R3517 T5161 T5162 compound expression,levels
R3518 T5162 T5160 pobj levels,of
R3519 T5163 T5132 punct ", ",imparted
R3520 T5164 T5165 dep which,is
R3521 T5165 T5132 advcl is,imparted
R3522 T5166 T5165 acomp consistent,is
R3523 T5167 T5166 prep with,consistent
R3524 T5168 T5169 amod interallelic,complementation
R3525 T5169 T5167 pobj complementation,with
R3526 T5170 T5132 punct .,imparted
R3527 T5172 T5173 advmod However,argues
R3528 T5174 T5173 punct ", ",argues
R3529 T5175 T5176 det the,observation
R3530 T5176 T5173 nsubj observation,argues
R3531 T5177 T5178 mark that,improved
R3532 T5178 T5176 acl improved,observation
R3533 T5179 T5180 det no,parameters
R3534 T5180 T5178 nsubjpass parameters,improved
R3535 T5181 T5180 amod other,parameters
R3536 T5182 T5180 amod cellular,parameters
R3537 T5183 T5182 cc or,cellular
R3538 T5184 T5182 conj biochemical,cellular
R3539 T5185 T5186 npadvmod UV,related
R3540 T5186 T5180 amod related,parameters
R3541 T5187 T5186 punct -,related
R3542 T5188 T5178 auxpass were,improved
R3543 T5189 T5178 prep in,improved
R3544 T5190 T5191 compound XpdTTD, †XPCS
R3545 T5191 T5189 pobj  †XPCS,in
R3546 T5192 T5191 punct /, †XPCS
R3547 T5193 T5173 prep against,argues
R3548 T5194 T5193 pobj complementation,against
R3549 T5195 T5194 prep of,complementation
R3550 T5196 T5197 det this,activity
R3551 T5197 T5195 pobj activity,of
R3552 T5198 T5197 compound repair,activity
R3553 T5199 T5194 prep in,complementation
R3554 T5200 T5201 det the,rescue
R3555 T5201 T5199 pobj rescue,in
R3556 T5202 T5201 prep of,rescue
R3557 T5203 T5204 nmod TTD,symptoms
R3558 T5204 T5202 pobj symptoms,of
R3559 T5205 T5204 amod progeroid,symptoms
R3560 T5206 T5207 advmod in,vivo
R3561 T5207 T5201 advmod vivo,rescue
R3562 T5208 T5173 punct .,argues
R3565 T5295 T5296 amod Interallelic,Complementation
R3566 T5297 T5296 cc and,Complementation
R3567 T5298 T5299 compound XPD,Function
R3568 T5299 T5296 conj Function,Complementation
R3569 T5301 T5302 dep What,tell
R3570 T5303 T5302 aux does,tell
R3571 T5304 T5305 amod interallelic,complementation
R3572 T5305 T5302 nsubj complementation,tell
R3573 T5306 T5302 dobj us,tell
R3574 T5307 T5302 prep about,tell
R3575 T5308 T5309 det the,mechanism
R3576 T5309 T5307 pobj mechanism,about
R3577 T5310 T5309 prep of,mechanism
R3578 T5311 T5312 compound XPD,function
R3579 T5312 T5310 pobj function,of
R3580 T5313 T5302 punct ?,tell
R3581 T5315 T5316 amod Interallelic,complementation
R3582 T5316 T5317 nsubjpass complementation,observed
R3583 T5318 T5317 auxpass is,observed
R3584 T5319 T5320 advmod most,often
R3585 T5320 T5317 advmod often,observed
R3586 T5321 T5317 prep in,observed
R3587 T5322 T5323 amod multimeric,proteins
R3588 T5323 T5321 pobj proteins,in
R3589 T5324 T5323 prep with,proteins
R3590 T5325 T5326 amod multiple,domains
R3591 T5326 T5324 pobj domains,with
R3592 T5327 T5326 amod functional,domains
R3593 T5328 T5317 punct .,observed
R3594 T5330 T5331 advmod Unfortunately,remains
R3595 T5332 T5331 punct ", ",remains
R3596 T5333 T5334 det the,relationship
R3597 T5334 T5331 nsubj relationship,remains
R3598 T5335 T5336 compound structure,function
R3599 T5336 T5334 compound function,relationship
R3600 T5337 T5336 punct –,function
R3601 T5338 T5334 prep between,relationship
R3602 T5339 T5340 npadvmod disease,causing
R3603 T5340 T5342 amod causing,mutations
R3604 T5341 T5340 punct -,causing
R3605 T5342 T5338 pobj mutations,between
R3606 T5343 T5342 cc and,mutations
R3607 T5344 T5345 nmod XPD,domains
R3608 T5345 T5342 conj domains,mutations
R3609 T5346 T5345 amod functional,domains
R3610 T5347 T5334 punct ", ",relationship
R3611 T5348 T5334 prep including,relationship
R3612 T5349 T5350 amod detailed,information
R3613 T5350 T5348 pobj information,including
R3614 T5351 T5350 amod structural,information
R3615 T5352 T5350 prep on,information
R3616 T5353 T5352 pobj XPD,on
R3617 T5354 T5353 cc or,XPD
R3618 T5355 T5356 advmod even,stoichiometry
R3619 T5356 T5353 conj stoichiometry,XPD
R3620 T5357 T5356 poss its,stoichiometry
R3621 T5358 T5350 prep within,information
R3622 T5359 T5358 pobj TFIIH,within
R3623 T5360 T5331 punct ", ",remains
R3624 T5361 T5331 acomp unknown,remains
R3625 T5362 T5331 punct .,remains
R3626 T5364 T5365 advmod However,is
R3627 T5366 T5365 punct ", ",is
R3628 T5367 T5365 prep based,is
R3629 T5368 T5367 prep on,based
R3630 T5369 T5370 det the,ability
R3631 T5370 T5368 pobj ability,on
R3632 T5371 T5370 prep of,ability
R3633 T5372 T5373 compound cell,extracts
R3634 T5373 T5371 pobj extracts,of
R3635 T5374 T5375 dep that,are
R3636 T5375 T5373 relcl are,extracts
R3637 T5376 T5375 acomp defective,are
R3638 T5377 T5376 prep in,defective
R3639 T5378 T5379 nummod two,components
R3640 T5379 T5377 pobj components,in
R3641 T5380 T5379 amod different,components
R3642 T5381 T5379 compound TFIIH,components
R3643 T5382 T5379 punct (,components
R3644 T5383 T5379 appos XPD,components
R3645 T5384 T5383 cc and,XPD
R3646 T5385 T5383 conj XPB,XPD
R3647 T5386 T5370 punct ),ability
R3648 T5387 T5388 aux to,complement
R3649 T5388 T5370 acl complement,ability
R3650 T5389 T5390 compound NER,activity
R3651 T5390 T5388 dobj activity,complement
R3652 T5391 T5392 advmod in,vitro
R3653 T5392 T5388 advmod vitro,complement
R3654 T5393 T5394 punct [,26
R3655 T5394 T5370 parataxis 26,ability
R3656 T5395 T5394 punct ],26
R3657 T5396 T5365 punct ", ",is
R3658 T5397 T5365 nsubj it,is
R3659 T5398 T5365 acomp likely,is
R3660 T5399 T5400 mark that,multimerise
R3661 T5400 T5365 ccomp multimerise,is
R3662 T5401 T5400 nsubj TFIIH,multimerise
R3663 T5402 T5401 punct (,TFIIH
R3664 T5403 T5401 cc or,TFIIH
R3665 T5404 T5405 poss its,components
R3666 T5405 T5401 conj components,TFIIH
R3667 T5406 T5400 punct ),multimerise
R3668 T5407 T5400 aux can,multimerise
R3669 T5408 T5400 preconj either,multimerise
R3670 T5409 T5400 cc or,multimerise
R3671 T5410 T5400 conj exchange,multimerise
R3672 T5411 T5412 advmod at,least
R3673 T5412 T5413 advmod least,during
R3674 T5413 T5410 prep during,exchange
R3675 T5414 T5415 det the,reaction
R3676 T5415 T5413 pobj reaction,during
R3677 T5416 T5415 compound NER,reaction
R3678 T5417 T5365 punct .,is
R3679 T5419 T5420 advmod Furthermore,known
R3680 T5421 T5420 punct ", ",known
R3681 T5422 T5420 nsubjpass XPD,known
R3682 T5423 T5420 auxpass is,known
R3683 T5424 T5425 aux to,be
R3684 T5425 T5420 xcomp be,known
R3685 T5426 T5427 det a,subunit
R3686 T5427 T5425 attr subunit,be
R3687 T5428 T5427 advmod “,subunit
R3688 T5429 T5430 advmod loosely,bound
R3689 T5430 T5427 amod bound,subunit
R3690 T5431 T5427 punct ”,subunit
R3691 T5432 T5427 prep of,subunit
R3692 T5433 T5432 pobj TFIIH,of
R3693 T5434 T5435 punct [,27
R3694 T5435 T5420 parataxis 27,known
R3695 T5436 T5435 punct ],27
R3696 T5437 T5420 punct .,known
R3697 T5439 T5440 nsubj We,envisage
R3698 T5441 T5440 advmod thus,envisage
R3699 T5442 T5443 det the,mechanism
R3700 T5443 T5445 nsubj mechanism,involve
R3701 T5444 T5443 amod molecular,mechanism
R3702 T5445 T5440 ccomp involve,envisage
R3703 T5446 T5443 prep of,mechanism
R3704 T5447 T5448 amod interallelic,complementation
R3705 T5448 T5446 pobj complementation,of
R3706 T5449 T5445 aux to,involve
R3707 T5450 T5451 det the,exchange
R3708 T5451 T5445 dobj exchange,involve
R3709 T5452 T5451 prep of,exchange
R3710 T5453 T5454 compound XPD,molecules
R3711 T5454 T5452 pobj molecules,of
R3712 T5455 T5451 prep within,exchange
R3713 T5456 T5457 det the,complex
R3714 T5457 T5455 pobj complex,within
R3715 T5458 T5457 compound TFIIH,complex
R3716 T5459 T5451 cc or,exchange
R3717 T5460 T5451 conj turnover,exchange
R3718 T5461 T5460 prep of,turnover
R3719 T5462 T5463 compound TFIIH,complexes
R3720 T5463 T5461 pobj complexes,of
R3721 T5464 T5463 acl containing,complexes
R3722 T5465 T5466 amod different,molecules
R3723 T5466 T5464 dobj molecules,containing
R3724 T5467 T5466 compound XPD,molecules
R3725 T5468 T5460 prep at,turnover
R3726 T5469 T5470 det the,site
R3727 T5470 T5468 pobj site,at
R3728 T5471 T5470 prep of,site
R3729 T5472 T5473 compound DNA,damage
R3730 T5473 T5471 pobj damage,of
R3731 T5474 T5460 prep during,turnover
R3732 T5475 T5476 det the,course
R3733 T5476 T5474 pobj course,during
R3734 T5477 T5476 prep of,course
R3735 T5478 T5479 det the,genome
R3736 T5479 T5477 pobj genome,of
R3737 T5480 T5479 amod global,genome
R3738 T5481 T5482 advmod as,as
R3739 T5482 T5451 cc as,exchange
R3740 T5483 T5482 advmod well,as
R3741 T5484 T5485 npadvmod transcription,coupled
R3742 T5485 T5487 amod coupled,repair
R3743 T5486 T5485 punct -,coupled
R3744 T5487 T5451 conj repair,exchange
R3745 T5488 T5487 prep of,repair
R3746 T5489 T5490 preconj either,damage
R3747 T5490 T5488 pobj damage,of
R3748 T5491 T5492 npadvmod UV,induced
R3749 T5492 T5490 amod induced,damage
R3750 T5493 T5492 punct -,induced
R3751 T5494 T5492 cc or,induced
R3752 T5495 T5492 conj endogenous,induced
R3753 T5496 T5490 compound DNA,damage
R3754 T5497 T5440 punct .,envisage
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
R4100 T6042 T6041 prep of,Potential
R4101 T6043 T6044 amod Combined,Alleles
R4102 T6044 T6042 pobj Alleles,of
R4103 T6045 T6044 amod Recessive,Alleles
R4104 T6046 T6047 aux to,Affect
R4105 T6047 T6041 acl Affect,Potential
R4106 T6048 T6049 amod Phenotypic,Diversity
R4107 T6049 T6047 dobj Diversity,Affect
R4108 T6050 T6047 prep in,Affect
R4109 T6051 T6050 pobj Mammals,in
R4110 T6053 T6054 prep In,remains
R4111 T6055 T6053 pobj humans,In
R4112 T6056 T6054 punct ", ",remains
R4113 T6057 T6058 det the,relevance
R4114 T6058 T6054 nsubj relevance,remains
R4115 T6059 T6058 amod clinical,relevance
R4116 T6060 T6058 prep of,relevance
R4117 T6061 T6062 amod biallelic,effects
R4118 T6062 T6060 pobj effects,of
R4119 T6063 T6064 amod such,as
R4120 T6064 T6062 prep as,effects
R4121 T6065 T6066 amod interallelic,complementation
R4122 T6066 T6064 pobj complementation,as
R4123 T6067 T6054 acomp unknown,remains
R4124 T6068 T6054 punct .,remains
R4125 T6070 T6071 mark Although,described
R4126 T6071 T6081 advcl described,noted
R4127 T6072 T6073 amod interallelic,complementation
R4128 T6073 T6071 nsubjpass complementation,described
R4129 T6074 T6073 prep between,complementation
R4130 T6075 T6076 nummod two,alleles
R4131 T6076 T6074 pobj alleles,between
R4132 T6077 T6076 amod endogenous,alleles
R4133 T6078 T6076 amod mutant,alleles
R4134 T6079 T6071 aux has,described
R4135 T6080 T6071 auxpass been,described
R4136 T6082 T6071 prep in,described
R4137 T6083 T6082 pobj cells,in
R4138 T6084 T6083 prep from,cells
R4139 T6085 T6086 det a,patient
R4140 T6086 T6084 pobj patient,from
R4141 T6087 T6086 nmod compound,patient
R4142 T6088 T6086 amod heterozygous,patient
R4143 T6089 T6086 prep with,patient
R4144 T6090 T6091 amod methylmalonic,acidaemia
R4145 T6091 T6089 pobj acidaemia,with
R4146 T6092 T6081 punct ", ",noted
R4147 T6093 T6094 det no,effects
R4148 T6094 T6081 nsubjpass effects,noted
R4149 T6095 T6094 amod observable,effects
R4150 T6096 T6094 prep on,effects
R4151 T6097 T6098 compound disease,outcome
R4152 T6098 T6096 pobj outcome,on
R4153 T6099 T6081 auxpass were,noted
R4154 T6100 T6081 prep in,noted
R4155 T6101 T6102 det the,patient
R4156 T6102 T6100 pobj patient,in
R4157 T6103 T6104 punct [,28
R4158 T6104 T6081 parataxis 28,noted
R4159 T6105 T6104 punct ],28
R4160 T6106 T6081 punct .,noted
R4161 T6108 T6109 advmod Thus,is
R4162 T6110 T6109 punct ", ",is
R4163 T6111 T6109 prep to,is
R4164 T6112 T6113 det the,best
R4165 T6113 T6111 pobj best,to
R4166 T6114 T6113 prep of,best
R4167 T6115 T6116 poss our,knowledge
R4168 T6116 T6114 pobj knowledge,of
R4169 T6117 T6109 punct ", ",is
R4170 T6118 T6119 det the,amelioration
R4171 T6119 T6109 nsubj amelioration,is
R4172 T6120 T6119 prep of,amelioration
R4173 T6121 T6122 amod progeroid,features
R4174 T6122 T6120 pobj features,of
R4175 T6123 T6119 acl observed,amelioration
R4176 T6124 T6123 advmod here,observed
R4177 T6125 T6126 det the,demonstration
R4178 T6126 T6109 attr demonstration,is
R4179 T6127 T6126 amod first,demonstration
R4180 T6128 T6129 advmod in,vivo
R4181 T6129 T6126 amod vivo,demonstration
R4182 T6130 T6126 prep in,demonstration
R4183 T6131 T6132 nmod compound,animals
R4184 T6132 T6130 pobj animals,in
R4185 T6133 T6132 amod heterozygous,animals
R4186 T6134 T6132 prep of,animals
R4187 T6135 T6136 amod interallelic,complementation
R4188 T6136 T6134 pobj complementation,of
R4189 T6137 T6126 amod relevant,demonstration
R4190 T6138 T6137 prep to,relevant
R4191 T6139 T6140 det a,disease
R4192 T6140 T6138 pobj disease,to
R4193 T6141 T6140 amod human,disease
R4194 T6142 T6109 punct .,is
R4195 T6144 T6145 advcl Keeping,is
R4196 T6146 T6144 prep in,Keeping
R4197 T6147 T6146 pobj mind,in
R4198 T6148 T6149 mark that,result
R4199 T6149 T6144 ccomp result,Keeping
R4200 T6150 T6151 det the,alleles
R4201 T6151 T6149 nsubj alleles,result
R4202 T6152 T6153 punct ~,"1,200"
R4203 T6153 T6151 nummod "1,200",alleles
R4204 T6154 T6151 acl known,alleles
R4205 T6155 T6156 aux to,exist
R4206 T6156 T6154 xcomp exist,known
R4207 T6157 T6156 prep for,exist
R4208 T6158 T6159 det the,gene
R4209 T6159 T6157 pobj gene,for
R4210 T6160 T6159 compound CTRF,gene
R4211 T6161 T6159 acl implicated,gene
R4212 T6162 T6161 prep in,implicated
R4213 T6163 T6164 det the,disorder
R4214 T6164 T6162 pobj disorder,in
R4215 T6165 T6164 amod common,disorder
R4216 T6166 T6164 amod autosomal,disorder
R4217 T6167 T6164 amod recessive,disorder
R4218 T6168 T6169 amod cystic,fibrosis
R4219 T6169 T6164 appos fibrosis,disorder
R4220 T6170 T6161 advmod alone,implicated
R4221 T6171 T6172 punct [,29
R4222 T6172 T6154 parataxis 29,known
R4223 T6173 T6172 punct ],29
R4224 T6174 T6149 aux can,result
R4225 T6175 T6149 advmod theoretically,result
R4226 T6176 T6149 prep in,result
R4227 T6177 T6178 punct ~,"700,000"
R4228 T6178 T6179 nummod "700,000",combinations
R4229 T6179 T6176 pobj combinations,in
R4230 T6180 T6179 amod different,combinations
R4231 T6181 T6179 amod allelic,combinations
R4232 T6182 T6145 punct ", ",is
R4233 T6183 T6184 det the,number
R4234 T6184 T6145 nsubj number,is
R4235 T6185 T6184 amod potential,number
R4236 T6186 T6184 prep of,number
R4237 T6187 T6188 amod allelic,combinations
R4238 T6188 T6186 pobj combinations,of
R4239 T6189 T6188 prep of,combinations
R4240 T6190 T6191 amod different,mutations
R4241 T6191 T6189 pobj mutations,of
R4242 T6192 T6191 amod recessive,mutations
R4243 T6193 T6191 cc and,mutations
R4244 T6194 T6195 amod single,polymorphisms
R4245 T6195 T6191 conj polymorphisms,mutations
R4246 T6196 T6195 compound nucleotide,polymorphisms
R4247 T6197 T6198 npadvmod genome,wide
R4248 T6198 T6184 amod wide,number
R4249 T6199 T6198 punct -,wide
R4250 T6200 T6145 advmod currently,is
R4251 T6201 T6145 acomp incalculable,is
R4252 T6202 T6145 punct .,is
R4253 T6204 T6205 nsubj We,suggest
R4254 T6206 T6207 amod biallelic,effects
R4255 T6207 T6205 dobj effects,suggest
R4256 T6208 T6205 prep as,suggest
R4257 T6209 T6210 det a,variable
R4258 T6210 T6208 pobj variable,as
R4259 T6211 T6212 advmod previously,underestimated
R4260 T6212 T6213 amod underestimated,important
R4261 T6213 T6210 amod important,variable
R4262 T6214 T6213 advmod yet,important
R4263 T6215 T6205 prep in,suggest
R4264 T6216 T6215 pcomp considering,in
R4265 T6217 T6218 compound genotype,phenotype
R4266 T6218 T6220 compound phenotype,relationships
R4267 T6219 T6218 punct –,phenotype
R4268 T6220 T6216 dobj relationships,considering
R4269 T6221 T6216 prep from,considering
R4270 T6222 T6223 amod autosomal,disease
R4271 T6223 T6221 pobj disease,from
R4272 T6224 T6223 amod recessive,disease
R4273 T6225 T6221 prep to,from
R4274 T6226 T6227 amod normal,diversity
R4275 T6227 T6225 pobj diversity,to
R4276 T6228 T6227 amod phenotypic,diversity
R4277 T6229 T6216 prep in,considering
R4278 T6230 T6229 pobj mammals,in
R4279 T6231 T6205 punct .,suggest
R4280 T6233 T6234 nsubj Extension,implies
R4281 T6235 T6233 prep of,Extension
R4282 T6236 T6237 det the,concept
R4283 T6237 T6235 pobj concept,of
R4284 T6238 T6237 amod above,concept
R4285 T6239 T6240 mark that,enter
R4286 T6240 T6234 ccomp enter,implies
R4287 T6241 T6242 amod recessive,mutations
R4288 T6242 T6240 nsubj mutations,enter
R4289 T6243 T6240 aux can,enter
R4290 T6244 T6245 amod evolutionary,selection
R4291 T6245 T6240 dobj selection,enter
R4292 T6246 T6240 prep in,enter
R4293 T6247 T6246 pobj F1,in
R4294 T6248 T6240 prep provided,enter
R4295 T6249 T6250 mark that,carries
R4296 T6250 T6248 pcomp carries,provided
R4297 T6251 T6252 det the,allele
R4298 T6252 T6250 nsubj allele,carries
R4299 T6253 T6252 amod second,allele
R4300 T6254 T6255 det a,alteration
R4301 T6255 T6250 dobj alteration,carries
R4302 T6256 T6255 amod different,alteration
R4303 T6257 T6255 amod recessive,alteration
R4304 T6258 T6234 punct .,implies
R4305 T6260 T6261 advmod Finally,highlight
R4306 T6262 T6261 punct ", ",highlight
R4307 T6263 T6264 poss our,data
R4308 T6264 T6261 nsubj data,highlight
R4309 T6265 T6266 det the,potential
R4310 T6266 T6261 dobj potential,highlight
R4311 T6267 T6266 prep of,potential
R4312 T6268 T6269 advmod clinically,relevant
R4313 T6269 T6270 amod relevant,alleles
R4314 T6270 T6267 pobj alleles,of
R4315 T6271 T6272 advmod previously,designated
R4316 T6272 T6270 acl designated,alleles
R4317 T6273 T6272 prep as,designated
R4318 T6274 T6273 amod null,as
R4319 T6275 T6270 punct ", ",alleles
R4320 T6276 T6270 prep with,alleles
R4321 T6277 T6278 amod little,expression
R4322 T6278 T6276 pobj expression,with
R4323 T6279 T6277 cc or,little
R4324 T6280 T6277 conj no,little
R4325 T6281 T6278 amod detectable,expression
R4326 T6282 T6278 cc or,expression
R4327 T6283 T6278 conj activity,expression
R4328 T6284 T6266 punct ", ",potential
R4329 T6285 T6286 aux to,contribute
R4330 T6286 T6266 acl contribute,potential
R4331 T6287 T6286 advmod nonetheless,contribute
R4332 T6288 T6286 prep to,contribute
R4333 T6289 T6288 pobj phenotype,to
R4334 T6290 T6261 punct .,highlight
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