| 1 | ERCC2, ERCC3, GTF2H5, TTDA, TTDP, TTDP2, XPB, XPD
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| TFIIH Subunit Alterations Causing Xeroderma Pigmentosum and Trichothiodystrophy Specifically Disturb Several Steps during Transcription.
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| Singh A, Compe E, Le May N, Egly JM.
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| Am J Hum Genet 96(2):194-207. doi: 10.1016/j.ajhg.2014.12.012. Epub 2015 Jan 22.
2015
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| 2 | CKN1, CSB, TTDA, XPB, XPD, XPG
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| Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship.
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| Kraemer KH, Patronas NJ, Schiffmann R, Brooks BP, Tamura D, DiGiovanna JJ.
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| Neuroscience 145(4):1388-96. Epub 2007 Feb 1. Review.
2007
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| 3 | ERCC3, XPB
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| Phenotypic heterogeneity in the XPB DNA helicase gene (ERCC3): xeroderma pigmentosum without and with Cockayne syndrome.
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| Oh KS, Khan SG, Jaspers NG, Raams A, Ueda T, Lehmann A, Friedmann PS, Emmert S, Gratchev A, Lachlan K, Lucassan A, Baker CC, Kraemer KH.
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| Hum Mutat 27(11):1092-103. 2006
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| 4 | ERCC3, TTDA, XPB
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| Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder.
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| Vermeulen W, Bergmann E, Auriol J, Rademakers S, Frit P, Appeldoorn E, Hoeijmakers JH, Egly JM.
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| Nat Genet 26(3):307-13. 2000
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| 5 | XPB
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| The relative expression of mutated XPB genes results in xeroderma pigmentosum/Cockayne's syndrome or trichothiodystrophy cellular phenotypes.
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| Riou L, et al.
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| Hum Mol Genet 8(6):1125-33. 1999
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| 6 | CKN1, CSB, XPA, XPB, XPC, XPD, XPE, XPF, XPG, ERCC8, ERCC6
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| A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.
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| Cleaver JE, et al.
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| Hum Mutat 14(1):9-22. 1999
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| 7 | ERCC3, XPB
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| A mutation in repB, the dictyostelium homolog of the human xeroderma pigmentosum B gene, has increased sensitivity to UV-light but normal morphogenesis.
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| Lee SK, et al.
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| Biochim Biophys Acta 1399 : 161-172. 1998
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| 8 | ERCC3, XPB
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| A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.
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| Weeda G, et al.
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| Am J Hum Genet 60 : 320-329. 1997
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| 9 | ERCC3, XPB
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| A 3'-5' XPB helicase defect in repair/transcription factor TFIIH of xeroderma pigmentosum group B affects both DNA repair and transcription.
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| Hwang JR, et al.
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| J Biol Chem 271 : 15898-15904. 1996
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| 10 | XPD, TP53, XPB
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| p53 modulation of TFIIH-associated nucleotide excision repair activity.
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| Wang XW, et al.
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| Nat Genet 10 : 188-195. 1995
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| 11 | XPB, ERCC3
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| Clinical heterogeneity within xeroderma pigmentosum associated with mutations in the DNA repair and transcription gene ERCC3.
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| Vermeulen W, et al.
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| Am J Hum Genet 54 : 191-200. 1994
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| 12 | ERCC3, XPB
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| Correction of xeroderma pigmentosum repair defect by basal transcription factor BTF2 (TFIIH).
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| Van Vuuren AJ, et al.
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| EMBO J 13 : 1645-1653. 1994
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| 13 | XPB
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| Localization of the xeroderma pigmentosum group B-correcting gene ERCC3 to human chromosome 2q21.
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| Weeda G, et al.
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| Genomics 10 : 1035-1040. 1991
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| 14 | XPB
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| Structure and expression of the human XPBC/ERCC-3 gene involved in DNA repair disorders xeroderma pigmentosum and Cockayne's syndrome.
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| Weeda G, et al.
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| Nucleic Acids Res 19 : 6301-6308. 1991
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| 15 | ERCC3, XPB
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| A presumed DNA helicase encoded by ERCC-3 is involved in the human repair disorders xeroderma pigmentosum and Cockayne's syndrome.
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| Weeda G, et al.
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| Cell 62 : 777-791. 1990
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