| 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 | ERCC2, XRCC1
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| XRCC1 and XPD DNA repair gene polymorphisms: a potential risk factor for glaucoma in the Pakistani population.
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| Yousaf S, Khan MI, Micheal S, Akhtar F, Ali SH, Riaz M, Ali M, Lall P, Waheed NK, den Hollander AI, Ahmed A, Qamar R.
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| Mol Vis. 17:1153-63. 2011
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| 4 | ERCC2, ERCC3
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| The phosphorylation of the androgen receptor by TFIIH directs the ubiquitin/proteasome process.
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| Chymkowitch P, Le May N, Charneau P, Compe E, Egly JM.
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| EMBO J 30(3):468-79. doi: 10.1038/emboj.2010.337. Epub 2010 Dec 14.
2011
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| 5 | ERCC2
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| Genetic variations of DNA repair genes and their prognostic significance in patients with acute myeloid leukemia.
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| Shi JY, Ren ZH, Jiao B, Xiao R, Yun HY, Chen B, Zhao WL, Zhu Q, Chen Z, Chen SJ.
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| Int J Cancer nt J Cancer. 2010 Mar 15. [Epub ahead of print]PMID: 20232390 2010
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| 6 | CIAO2B, ERCC2, MMS19
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| MMXD, a TFIIH-independent XPD-MMS19 protein complex involved in chromosome segregation.
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| Ito S, Tan LJ, Andoh D, Narita T, Seki M, Hirano Y, Narita K, Kuraoka I, Hiraoka Y, Tanaka K.
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| Mol Cell 39(4):632-40. doi: 10.1016/j.molcel.2010.07.029. 2010
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| 7 | ERCC2, ERCC3
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| Molecular insights into the recruitment of TFIIH to sites of DNA damage.
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| Oksenych V, de Jesus BB, Zhovmer A, Egly JM, Coin F.
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| EMBO J 28(19):2971-80. Epub 2009 Aug 27.
2009
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| 8 | 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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| 9 | ERCC2
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| XPD helicase structures and activities: insights into the cancer and aging phenotypes from XPD mutations.
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| Fan L, Fuss JO, Cheng QJ, Arvai AS, Hammel M, Roberts VA, Cooper PK, Tainer JA.
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| Cell 133(5):789-800. 2008
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| 10 | ERCC2
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| Structure of the DNA repair helicase XPD.
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| Liu H, Rudolf J, Johnson KA, McMahon SA, Oke M, Carter L, McRobbie AM, Brown SE, Naismith JH, White MF.
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| Cell 133(5):801-12. 2008
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| 11 | 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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| 12 | ERCC2
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| The investigation of DNA repair polymorphisms with histopathological characteristics and hormone receptors in a group of Brazilian women with breast cancer.
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| Dufloth RM, Arruda A, Heinrich JK, Schmitt F, Zeferino LC.
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| Genet Mol Res 7(3):574-82.PMID: 18752184 2008
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| 13 | ERCC2
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| Common XPD (ERCC2) polymorphisms have no measurable effect on nucleotide excision repair and basal transcription.
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| Lainé JP, Mocquet V, Bonfanti M, Braun C, Egly JM, Brousset P.
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| DNA Repair (Amst) 6(9):1264-70. Epub 2007 Apr 2.PMID: 17403617 2007
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| 14 | DDB1, DDB2, ERCC2, ERCC3, ERCC4, ERCC5, XPA, XPC
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| Clusters of transcription-coupled repair in the human genome.
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| Surralles J, Ramirez MJ, Marcos R, Natarajan AT, Mullenders LH.
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| Proc Natl Acad Sci U S A 99(16):10571-4. 2002
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| 15 | ERCC1, ERCC2
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| DNA repair gene ERCC1 and ERCC2/XPD polymorphisms and risk of squamous cell carcinoma of the head and neck.
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| Sturgis EM, Dahlstrom KR, Spitz MR, Wei Q.
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| Arch Otolaryngol Head Neck Surg 128(9):1084-8. 2002
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| 16 | ERCC2
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| Regulation of cisplatin resistance and homologous recombinational repair by the TFIIH subunit XPD.
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| Aloyz R, Xu ZY, Bello V, Bergeron J, Han FY, Yan Y, Malapetsa A, Alaoui-Jamali MA, Duncan AM, Panasci L.
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| Cancer Res. 62(19):5457-62. 2002
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| 17 | ERCC2
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| Association of human RAD52 protein with transcription factors.
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| Liu J, Meng X, Shen Z.
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| Biochem Biophys Res Commun. 297(5):1191-6. 2002
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| 18 | ERCC2
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| Premature aging in mice deficient in DNA repair and transcription.
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| de Boer J, Andressoo JO, de Wit J, Huijmans J, Beems RB, van Steeg H, Weeda G, van der Horst GT, van Leeuwen W, Themmen AP, Meradji M, Hoeijmakers JH.
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| Science. 296(5571):1276-9. 2002
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| 19 | COFS1, ERCC2, ERCC5, ERCC6, COFS3
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| Cerebro-oculo-facio-skeletal syndrome with a nucleotide excision-repair defect and a mutated XPD gene, with prenatal diagnosis in a triplet pregnancy.
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| Graham JM Jr, Anyane-Yeboa K, Raams A, Appeldoorn E, Kleijer WJ, Garritsen VH, Busch D, Edersheim TG, Jaspers NG.
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| Am J Hum Genet 69(2):291-300. 2001
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| 20 | ERCC2
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| Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy.
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| Viprakasit V, Gibbons RJ, Broughton BC, Tolmie JL, Brown D, Lunt P, Winter RM, Marinoni S, Stefanini M, Brueton L, Lehmann AR, Higgs DR.
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| Hum Mol Genet 10(24):2797-802. 2001
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| 21 | ERCC2
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| Nucleotide excision repair gene XPD polymorphisms and genetic predisposition to melanoma.
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| Tomescu D, Kavanagh G, Ha T, Campbell H, Melton DW.
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| Carcinogenesis 22(3):403-8. 2001
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| 22 | ERCC2
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| Genetic polymorphisms in DNA repair genes and risk of lung cancer.
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| Butkiewicz D, Rusin M, Enewold L, Shields PG, Chorazy M, Harris CC.
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| Carcinogenesis 22(4):593-7. 2001
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| 23 | ERCC2
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| A yeast four-hybrid system identifies Cdk-activating kinase as a regulator of the XPD helicase, a subunit of transcription factor IIH.
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| Sandrock B, Egly JM.
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| J Biol Chem. 276(38):35328-33. 2001
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| 24 | ERCC2, XRCC1
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| Polymorphisms in the DNA repair genes XRCC1 and ERCC2 and biomarkers of DNA damage in human blood mononuclear cells.
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| Duell EJ, Wiencke JK, Cheng TJ, Varkonyi A, Zuo ZF, Ashok TD, Mark EJ, Wain JC, Christiani DC, Kelsey KT.
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| Carcinogenesis 21(5):965-71. 2000
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| 25 | ERCC2, ERCC3
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| Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH.
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| Coin F, et al.
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| EMBO J 18(5):1357-1366. 1999
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| 26 | 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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| 27 | ERCC2
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| A mouse model for the basal transcription/DNA repair syndrome trichothiodystroph
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| de Boer J, de Wit J, van Steeg H, Berg RJ, Morreau H, Visser P, Lehmann AR, Duran M, Hoeijmakers JH, Weeda G.
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| Mol Cell. 1(7):981-90. 1998
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| 28 | 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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| 29 | 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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| 30 | 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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| 31 | 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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| 32 | 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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| 33 | CCG, KLC3, ERCC2
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| Sequence analysis of the ERCC2 gene regions in human, mouse, and hamster reveals three linked genes.
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| Lamerdin JE, Stilwagen SA, Ramirez MH, Stubbs L, Carrano AV.
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| Genomics 34(3):399-409. 1996
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| 34 | ERCC2, ERCC3
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| Reconstitution of TFIIH and requirement of its DNA helicase subunits, Rad3 and Rad25, in the incision step of nucleotide excision repair.
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| Sung P, et al.
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| J Biol Chem 271 : 10821-10826. 1996
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| 35 | 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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| 36 | 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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| 37 | ERCC2
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| Stimulation of human monocytes with macrophage colony-stimulating factor induces a Grb2-mediated association of the focal adhesion kinase pp125FAK and dynamin.
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| Kharbanda S, Saleem A, Yuan Z, Emoto Y, Prasad KV, Kufe D.
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| Proc Natl Acad Sci U S A. 92(13):6132-6. 1995
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| 38 | ERCC2
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| The ERCC2/DNA repair protein is associated with the class II BTF2/TFIIH transcription factor.
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| Schaeffer L, et al.
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| EMBO J 13 : 2388-2392. 1994
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| 39 | 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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| 40 | 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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| Gzkara EM, et al.
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| Cancer Res 54 : 3837-3844. 1994
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| 41 | 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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| 42 | 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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| 43 | 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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| 44 | 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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| 45 | 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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| 46 | ERCC2
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| A RsaI polymorphism in the ERCC2 locus.
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| von Deimling A, et al.
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| Hum Mol Genet 1 : 355. 1992
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| 47 | 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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| 48 | CKM, ERCC1, ERCC2
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| A long-range restriction map of the human chromosome 19q13 region: close physical linkage between CKMM and the ERCCI and ERCC2 genes.
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| Smeets H, et al.
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| Am J Hum Genet 46 : 492-501. 1990
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| 49 | ERCC2
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| ERCC2: cDNA cloning and molecular characterization of a human nucleotideexcision repair gene with high homology to yeast RAD3.
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| Weber CA, et al.
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| EMBO J 9 : 1437-1447. 1990
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| 50 | ERCC1, ERCC2, D19S38, D19S39
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| Physical and genetic mapping of loci around the myotonic dystrophy (DM) mutation at 19q13.
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| Smeets H, et al.
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| (HGM10) Cytogenet Cell Genet 51 : 1081. 1989
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| 51 | ERCC2
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| Conservation of linkage between human chromosome 19 and chinese hamster chromosome 9.
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| Bachinski LL, et al.
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| (HGM10) Cytogenet Cell Genet 51 : 954-955. 1989
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| 52 | ERCC1, ERCC2, XRCC1
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| Complementation of repair gene mutations on the hemizygous chromosome 9 in CHO : a third repair gene on human chromosome 19.
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| Thompson LH, et al.
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| Genomics 5 : 670-679. 1989
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| 53 | ERCC1, ERCC2, XRCC1
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| Refined mapping ofthe three DNA repair genes, ERCC1, ERCC2, and XRCC1, on? human chromosome 19.
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| Mohrenweiser HW, et al.
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| Cytogenet Cell Genet 52 : 11-14. 1989
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| 54 | ERCC2
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| Molecular cloning and biological characterization of a human gene, ERCC2, that corrects the nucleotide excision repair defect in CHO UV5 cells.
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| Weber CA, et al.
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| Mol Cell Biol 8 : 1137-1146. 1988
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| 55 | ERCC1, ERCC2, XRCC1
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| Regional assignment of DNA repair genes and a gene order for human chromosome 19.
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| Bachinski LL, et al.
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| Am J Hum Genet 43 : A135. 1988
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| 56 | ERCC2
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| The assignment of a gene (CERC) complementing a DNA repair defect in Chinese hamster cells to human chromosome 1.
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| de Wit J, et al.
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| (HGM7) Cytogenet Cell Genet 37 : 611-612. 1984
|