Matches in SemOpenAlex for { <https://semopenalex.org/work/W1555556881> ?p ?o ?g. }
- W1555556881 endingPage "70" @default.
- W1555556881 startingPage "263" @default.
- W1555556881 abstract "Trichothiodystrophy (TTD) is a rare autosomal recessive disorder characterized by brittle hair with reduced sulfur content, ichthyosis, peculiar face, and mental and growth retardation. Clinical photosensitivity is present in approximately 50% of TTD patients but is not associated with an elevated frequency of cancers. Previous complementation studies show that the photosensitivity in nearly all of the studied patients is due to a defect in the same genetic locus that underlies the cancer-prone genetic disorder xeroderma pigmentosum group D (XP-D). Nucleotide-sequence analysis of the ERCC2 cDNA from three TTD cell strains (TTD1V1, TTD3VI, and TTD1RO) revealed mutations within the region from amino acid 713-730 and within previously identified helicase functional domains. The various clinical presentations and DNA repair characteristics of the cell strains can be correlated with the particular mutations found in the ERCC2 locus. Mutations of Arg658 to either His or Cys correlate with TTD cell strains with intermediate UV-sensitivity, mutation of Arg722 to Trp correlates with highly UV-sensitive TTD cell strains, and mutation of Arg683 to Trp correlates with XP-D. Alleles with mutation of Arg616 to Pro or with the combined mutation of Leu461 to Val and deletion of 716-730 are found in both XP-D and TTD cell strains." @default.
- W1555556881 created "2016-06-24" @default.
- W1555556881 creator A5002293130 @default.
- W1555556881 creator A5002451432 @default.
- W1555556881 creator A5006645327 @default.
- W1555556881 creator A5031401027 @default.
- W1555556881 creator A5038628219 @default.
- W1555556881 creator A5042937819 @default.
- W1555556881 creator A5048471316 @default.
- W1555556881 date "1996-02-01" @default.
- W1555556881 modified "2023-09-29" @default.
- W1555556881 title "Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy." @default.
- W1555556881 cites W1490481077 @default.
- W1555556881 cites W1499179356 @default.
- W1555556881 cites W1536083173 @default.
- W1555556881 cites W1541218357 @default.
- W1555556881 cites W1560653563 @default.
- W1555556881 cites W1604801834 @default.
- W1555556881 cites W1789004025 @default.
- W1555556881 cites W1846876036 @default.
- W1555556881 cites W1979760101 @default.
- W1555556881 cites W1990974875 @default.
- W1555556881 cites W1991502560 @default.
- W1555556881 cites W1995190661 @default.
- W1555556881 cites W2001296184 @default.
- W1555556881 cites W2005463252 @default.
- W1555556881 cites W2007615635 @default.
- W1555556881 cites W2028909880 @default.
- W1555556881 cites W2029277005 @default.
- W1555556881 cites W2033975105 @default.
- W1555556881 cites W2036300999 @default.
- W1555556881 cites W2042026460 @default.
- W1555556881 cites W2045066891 @default.
- W1555556881 cites W2067016636 @default.
- W1555556881 cites W2070010984 @default.
- W1555556881 cites W2086826197 @default.
- W1555556881 cites W2093267013 @default.
- W1555556881 cites W2102760916 @default.
- W1555556881 cites W2106743145 @default.
- W1555556881 cites W2108519282 @default.
- W1555556881 cites W2120244560 @default.
- W1555556881 cites W2120434953 @default.
- W1555556881 cites W2126830955 @default.
- W1555556881 cites W2132640465 @default.
- W1555556881 cites W2135040817 @default.
- W1555556881 cites W2147348907 @default.
- W1555556881 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/1914548" @default.
- W1555556881 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/8571952" @default.
- W1555556881 hasPublicationYear "1996" @default.
- W1555556881 type Work @default.
- W1555556881 sameAs 1555556881 @default.
- W1555556881 citedByCount "27" @default.
- W1555556881 countsByYear W15555568812014 @default.
- W1555556881 countsByYear W15555568812015 @default.
- W1555556881 countsByYear W15555568812018 @default.
- W1555556881 countsByYear W15555568812019 @default.
- W1555556881 countsByYear W15555568812020 @default.
- W1555556881 countsByYear W15555568812023 @default.
- W1555556881 crossrefType "journal-article" @default.
- W1555556881 hasAuthorship W1555556881A5002293130 @default.
- W1555556881 hasAuthorship W1555556881A5002451432 @default.
- W1555556881 hasAuthorship W1555556881A5006645327 @default.
- W1555556881 hasAuthorship W1555556881A5031401027 @default.
- W1555556881 hasAuthorship W1555556881A5038628219 @default.
- W1555556881 hasAuthorship W1555556881A5042937819 @default.
- W1555556881 hasAuthorship W1555556881A5048471316 @default.
- W1555556881 hasConcept C104317684 @default.
- W1555556881 hasConcept C104451858 @default.
- W1555556881 hasConcept C134935766 @default.
- W1555556881 hasConcept C153911025 @default.
- W1555556881 hasConcept C2776292323 @default.
- W1555556881 hasConcept C2778378917 @default.
- W1555556881 hasConcept C2778883343 @default.
- W1555556881 hasConcept C2779371275 @default.
- W1555556881 hasConcept C54355233 @default.
- W1555556881 hasConcept C84597430 @default.
- W1555556881 hasConcept C86803240 @default.
- W1555556881 hasConceptScore W1555556881C104317684 @default.
- W1555556881 hasConceptScore W1555556881C104451858 @default.
- W1555556881 hasConceptScore W1555556881C134935766 @default.
- W1555556881 hasConceptScore W1555556881C153911025 @default.
- W1555556881 hasConceptScore W1555556881C2776292323 @default.
- W1555556881 hasConceptScore W1555556881C2778378917 @default.
- W1555556881 hasConceptScore W1555556881C2778883343 @default.
- W1555556881 hasConceptScore W1555556881C2779371275 @default.
- W1555556881 hasConceptScore W1555556881C54355233 @default.
- W1555556881 hasConceptScore W1555556881C84597430 @default.
- W1555556881 hasConceptScore W1555556881C86803240 @default.
- W1555556881 hasIssue "2" @default.
- W1555556881 hasLocation W15555568811 @default.
- W1555556881 hasOpenAccess W1555556881 @default.
- W1555556881 hasPrimaryLocation W15555568811 @default.
- W1555556881 hasRelatedWork W1555556881 @default.
- W1555556881 hasRelatedWork W1608304464 @default.
- W1555556881 hasRelatedWork W1973141926 @default.
- W1555556881 hasRelatedWork W2010787386 @default.
- W1555556881 hasRelatedWork W2040289024 @default.
- W1555556881 hasRelatedWork W2040337006 @default.