Citations for
1ERCC2, ERCC3, GTF2H5, TTDA, TTDP, TTDP2, XPB, XPD
TFIIH Subunit Alterations Causing Xeroderma Pigmentosum and Trichothiodystrophy Specifically Disturb Several Steps during Transcription.
Singh A, Compe E, Le May N, Egly JM.
Am J Hum Genet 96(2):194-207. doi: 10.1016/j.ajhg.2014.12.012. Epub 2015 Jan 22. 2015
2ERCC2, XPD
Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosum.
Tamura D, Khan SG, Merideth M, DiGiovanna JJ, Tucker MA, Goldstein AM, Oh KS, Ueda T, Boyle J, Sarihan M, Kraemer KH.
Eur J Hum Genet 20(12):1308-10. doi: 10.1038/ejhg.2012.90. Epub 2012 May 23. 2012
3C7ORF11, ERCC2, GTF2H5, TTDA, TTDN1, XPD
Trichothiodystrophy view from the molecular basis of DNA repair/transcription factor TFIIH.
Hashimoto S, Egly JM.
Hum Mol Genet 18(R2):R224-30. Review.PMID: 19808800 2009
4CSB, TTDA, XPC, XPD, XPE
Disorders of nucleotide excision repair: the genetic and molecular basis of heterogeneity.
Cleaver JE, Lam ET, Revet I.
Nat Rev Genet 10(11):756-68. Epub 2009 Oct 7. Review.PMID: 19809470 2009
5ERCC2, GTF2H5, TTDA, XPD
Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.
Boyle J, Ueda T, Oh KS, Imoto K, Tamura D, Jagdeo J, Khan SG, Nadem C, Digiovanna JJ, Kraemer KH.
Hum Mutat 29(10):1194-208. 2008
6TTDA, TTDN1, XPD
Trichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestations.
Faghri S, Tamura D, Kraemer KH, Digiovanna JJ.
J Med Genet 45(10):609-21. Epub 2008 Jun 25. Review. 2008
7CKN1, CSB, TTDA, XPB, XPD, XPG
Xeroderma pigmentosum, trichothiodystrophy and Cockayne syndrome: a complex genotype-phenotype relationship.
Kraemer KH, Patronas NJ, Schiffmann R, Brooks BP, Tamura D, DiGiovanna JJ.
Neuroscience 145(4):1388-96. Epub 2007 Feb 1. Review. 2007
8XPD
Transcription-associated breaks in xeroderma pigmentosum group D cells from patients with combined features of xeroderma pigmentosum and Cockayne syndrome.
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.
Mol Cell Biol 25(18):8368-78. 2005
9XPD
XPD mutations prevent TFIIH-dependent transactivation by nuclear receptors and phosphorylation of RARalpha.
Keriel A, Stary A, Sarasin A, Rochette-Egly C, Egly JM.
Cell 109(1):125-35. 2002
10CKN1, CSB, XPA, XPB, XPC, XPD, XPE, XPF, XPG, ERCC8, ERCC6
A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy.
Cleaver JE, et al.
Hum Mutat 14(1):9-22. 1999
11ERCC2, XPD
Mutations in the XPD helicase gene result in Xp and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH.
Coin F, et al.
Nat Genet 20 : 184-188. 1998
12XPD
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.
Botta E, et al.
Am J Hum Genet 63 : 1036-1048. 1998
13ERCC2, XPD
Mutations in the XPD gene leading to xeroderma pigmentosum symptoms.
Kobayashi T, et al.
Hum Mutat 9 : 322-331. 1997
14ERCC2, XPD
DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient.
Takayama K, Danks DM, Salazar EP, Cleaver JE, Weber CA.
Hum Mutat 9(6):519-25. 1997
15ERCC2, XPD
Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.
Taylor EM, Broughton BC, Botta E, Stefanini M, Sarasin A, Jaspers NG, Fawcett H, Harcourt SA, Arlett CF, Lehmann AR.
Proc Natl Acad Sci U S A 94(16):8658-63. 1997
16XPD, ERCC2
Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.
Takayama K, et al.
Am J Hum Genet 58 : 263-270. 1996
17ERCC2, XPD
Five polymorphisms in the coding sequence of the xeroderma pigmentosum group D gene.
Broughton BC, et al.
Mutat Res 362 : 209-211. 1996
18ERCC2, XPD
Characteristics of UV-induced mutation spectra in human XP-D/ERCC2 gene-mutated xeroderma pigmentosum and trichothiodystrophy cells.
Marionnet C, et al.
J Mol Biol 252 : 550-562. 1995
19ERCC2, XPD
Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.
Takayama K, et al.
Cancer Res 55 : 5656-5663. 1995
20XPD, TP53, XPB
p53 modulation of TFIIH-associated nucleotide excision repair activity.
Wang XW, et al.
Nat Genet 10 : 188-195. 1995
21XPD
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.
Broughton BC, et al.
Am J Hum Genet 56 : 167-174. 1995
22XPD, ERCC2
Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy.
Broughton BC, et al.
Nat Genet 7 : 189-194. 1994
23XPD
Molecular analysis of the XP-D gene in Italian families with patients affected by trichothiodystrophy and xeroderma pigmentosum group D.
Mondello C, et al.
Mutat Res 314 : 159-165. 1994
24XPD
Intermittent hair loss in a child with PIBI(D)S syndrome and trichothiodystrophy with defective DNA repair-xeroderma pigmentosum group D.
Kleijer WJ, et al.
Am J Med Genet 52 : 227-230. 1994
25ERCC2, XPD
The human DNA repair gene, ERCC2 (XPD), corrects ultraviolet hypersentitivity and ultraviolet hypermutability of a shuttle vector replicated in xeroderma pigmentosum group D cells.
Gzkara EM, et al.
Cancer Res 54 : 3837-3844. 1994
26XPD, ERCC2
Structural and mutational analysis of the xeroderma pigmentosum group D (XPD) gene.
Frederick GD, et al.
Hum Mol Genet 3 : 1783-1788. 1994
27ERCC2, XPD
Correction by the ERCC2 gene of UV sensitivity and repair deficiency phenotype in a subset of trichothiodystrophy cells.
Mezzina M, et al.
Carcinogenesis 15 : 1493-1498. 1994
28XPD
Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.
Stefanini M, et al.
Carcinogenesis 14 : 1101-1105. 1993
29XPD, ERCC2
Human xeroderma pigmentosum group D gene encodes a DNA helicase.
Sung P, et al.
Nature 365 : 852-855. 1993
30ERCC2, XPD
A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy.
Stefanini M, Vermeulen W, Weeda G, Giliani S, Nardo T, Mezzina M, SarasinA, Harper JI, Arlett CF, Hoeijmakers JH, et al.
Am J Hum Genet 53(4):817-21. 1993
31ERCC2, XPD
Correction of xeroderma pigmentosum complementation group D mutant cell phenotypes by chromosome and gene transfer : Involvement of the human ERCC2 DNA repair gene.
Flejter WL, et al.
Proc Natl Acad Sci U S A 89 : 261-265. 1992
32XPD
Characterization of a complex chromosomal rearrangement maps the locus for in vitro complementation of xeroderma pigmentosum group D to human chromosome band 19q13.
Flejter WL, et al.
Genes Chromosomes Cancer 5 : 335-342. 1992
33XPD, ERCC2
Xeroderma pigmentosum complementation group H falls into complementation group D.
Vermeulen W, et al.
Mutat Res 255 : 201-208. 1991
34XPD
Cytogenetic and molecular characterization of a human chromosome which corrects the cellular phenotypes of xeroderma pigmentosum complementation group D.
Fleiter WL, et al.
Am J Hum Genet 47 : A250. 1990