| 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 | ERCC2, XPD
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| Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum.
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| Tamura D, Khan SG, Merideth M, DiGiovanna JJ, Tucker MA, Goldstein AM, Oh KS, Ueda T, Boyle J, Sarihan M, Kraemer KH.
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| Eur J Hum Genet 20(12):1308-10. doi: 10.1038/ejhg.2012.90. Epub 2012 May 23.
2012
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| 3 | C7ORF11, ERCC2, GTF2H5, TTDA, TTDN1, XPD
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| Trichothiodystrophy view from the molecular basis of DNA repair/transcription factor TFIIH.
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| Hashimoto S, Egly JM.
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| Hum Mol Genet 18(R2):R224-30. Review.PMID: 19808800 2009
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| 4 | CSB, TTDA, XPC, XPD, XPE
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| Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity.
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| Cleaver JE, Lam ET, Revet I.
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| Nat Rev Genet 10(11):756-68. Epub 2009 Oct 7. Review.PMID: 19809470 2009
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| 5 | ERCC2, GTF2H5, TTDA, XPD
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| Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.
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| Boyle J, Ueda T, Oh KS, Imoto K, Tamura D, Jagdeo J, Khan SG, Nadem C, Digiovanna JJ, Kraemer KH.
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| Hum Mutat 29(10):1194-208.
2008
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| 6 | TTDA, TTDN1, XPD
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| Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.
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| Faghri S, Tamura D, Kraemer KH, Digiovanna JJ.
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| J Med Genet 45(10):609-21. Epub 2008 Jun 25. Review.
2008
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| 7 | 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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| 8 | XPD
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| Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndrome.
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| Theron T, Fousteri MI, Volker M, Harries LW, Botta E, Stefanini M, Fujimoto M, Andressoo JO, Mitchell J, Jaspers NG, McDaniel LD, Mullenders LH, Lehmann AR.
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| Mol Cell Biol 25(18):8368-78. 2005
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| 9 | XPD
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| XPD mutations prevent TFIIH-dependent transactivation by nuclear receptors and phosphorylation of RARalpha.
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| Keriel A, Stary A, Sarasin A, Rochette-Egly C, Egly JM.
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| Cell 109(1):125-35. 2002
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| 10 | 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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| 11 | ERCC2, XPD
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| Mutations in the XPD helicase gene result in Xp and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH.
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| Coin F, et al.
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| Nat Genet 20 : 184-188. 1998
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| 12 | XPD
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| Analysis of mutations in the XPD gene in Italian patients with trichothiodystrophy : site of mutation correlates with repair deficiency, but gene dosage appears to determine clinical severity.
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| Botta E, et al.
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| Am J Hum Genet 63 : 1036-1048. 1998
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| 13 | ERCC2, XPD
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| Mutations in the XPD gene leading to xeroderma pigmentosum symptoms.
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| Kobayashi T, et al.
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| Hum Mutat 9 : 322-331. 1997
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| 14 | ERCC2, XPD
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| DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.
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| Takayama K, Danks DM, Salazar EP, Cleaver JE, Weber CA.
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| Hum Mutat 9(6):519-25. 1997
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| 15 | ERCC2, XPD
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| Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.
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| Taylor EM, Broughton BC, Botta E, Stefanini M, Sarasin A, Jaspers NG, Fawcett H, Harcourt SA, Arlett CF, Lehmann AR.
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| Proc Natl Acad Sci U S A 94(16):8658-63. 1997
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| 16 | XPD, ERCC2
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| Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.
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| Takayama K, et al.
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| Am J Hum Genet 58 : 263-270. 1996
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| 17 | ERCC2, XPD
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| Five polymorphisms in the coding sequence of the xeroderma pigmentosum group D gene.
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| Broughton BC, et al.
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| Mutat Res 362 : 209-211. 1996
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| 18 | ERCC2, XPD
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| Characteristics of UV-induced mutation spectra in human XP-D/ERCC2 gene-mutated xeroderma pigmentosum and trichothiodystrophy cells.
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| Marionnet C, et al.
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| J Mol Biol 252 : 550-562. 1995
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| 19 | ERCC2, XPD
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| Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.
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| Takayama K, et al.
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| Cancer Res 55 : 5656-5663. 1995
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| 20 | 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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| 21 | XPD
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| Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.
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| Broughton BC, et al.
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| Am J Hum Genet 56 : 167-174. 1995
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| 22 | XPD, ERCC2
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| Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy.
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| Broughton BC, et al.
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| Nat Genet 7 : 189-194. 1994
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| 23 | XPD
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| Molecular analysis of the XP-D gene in Italian families with patients affected by trichothiodystrophy and xeroderma pigmentosum group D.
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| Mondello C, et al.
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| Mutat Res 314 : 159-165. 1994
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| 24 | XPD
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| Intermittent hair loss in a child with PIBI(D)S syndrome and trichothiodystrophy with defective DNA repair-xeroderma pigmentosum group D.
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| Kleijer WJ, et al.
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| Am J Med Genet 52 : 227-230. 1994
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| 25 | ERCC2, XPD
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| The human DNA repair gene, ERCC2 (XPD), corrects ultraviolet hypersentitivity and ultraviolet hypermutability of a shuttle vector replicated in xeroderma pigmentosum group D cells.
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| GšzŸkara EM, et al.
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| Cancer Res 54 : 3837-3844. 1994
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| 26 | XPD, ERCC2
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| Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.
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| Frederick GD, et al.
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| Hum Mol Genet 3 : 1783-1788. 1994
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| 27 | ERCC2, XPD
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| Correction by the ERCC2 gene of UV sensitivity and repair deficiency phenotype in a subset of trichothiodystrophy cells.
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| Mezzina M, et al.
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| Carcinogenesis 15 : 1493-1498. 1994
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| 28 | XPD
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| Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.
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| Stefanini M, et al.
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| Carcinogenesis 14 : 1101-1105. 1993
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| 29 | XPD, ERCC2
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| Human xeroderma pigmentosum group D gene encodes a DNA helicase.
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| Sung P, et al.
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| Nature 365 : 852-855. 1993
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| 30 | ERCC2, XPD
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| A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy.
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| Stefanini M, Vermeulen W, Weeda G, Giliani S, Nardo T, Mezzina M, SarasinA, Harper JI, Arlett CF, Hoeijmakers JH, et al.
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| Am J Hum Genet 53(4):817-21. 1993
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| 31 | ERCC2, XPD
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| Correction of xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer : Involvement of the human ERCC2 DNA repair gene.
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| Flejter WL, et al.
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| Proc Natl Acad Sci U S A 89 : 261-265. 1992
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| 32 | XPD
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| Characterization of a complex chromosomal rearrangement maps the locus for in vitro complementation of xeroderma pigmentosum group D to human chromosome band 19q13.
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| Flejter WL, et al.
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| Genes Chromosomes Cancer 5 : 335-342. 1992
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| 33 | XPD, ERCC2
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| Xeroderma pigmentosum complementation group H falls into complementation group D.
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| Vermeulen W, et al.
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| Mutat Res 255 : 201-208. 1991
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| 34 | XPD
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| Cytogenetic and molecular characterization of a human chromosome which corrects the cellular phenotypes of xeroderma pigmentosum complementation group D.
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| Fleiter WL, et al.
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| Am J Hum Genet 47 : A250. 1990
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