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There are 13032 results for: content related to: Genotype–phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene

  1. Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy

    Human Mutation

    Volume 29, Issue 10, October 2008, Pages: 1194–1208, Jennifer Boyle, Takahiro Ueda, Kyu-Seon Oh, Kyoko Imoto, Deborah Tamura, Jared Jagdeo, Sikandar G. Khan, Carine Nadem, John J. DiGiovanna and Kenneth H. Kraemer

    Version of Record online : 9 MAY 2008, DOI: 10.1002/humu.20768

  2. You have free access to this content
    New clinico-genetic classification of trichothiodystrophy

    American Journal of Medical Genetics Part A

    Volume 149A, Issue 9, September 2009, Pages: 2020–2030, Fanny Morice-Picard, Muriel Cario-André, Hamid Rezvani, Didier Lacombe, Alain Sarasin and Alain Taïeb

    Version of Record online : 13 AUG 2009, DOI: 10.1002/ajmg.a.32902

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    TFIIH: from transcription to clinic

    FEBS Letters

    Volume 498, Issue 2-3, June 08, 2001, Pages: 124–128, Jean-Marc Egly

    Version of Record online : 12 JUN 2001, DOI: 10.1016/S0014-5793(01)02458-9

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    A novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity

    Environmental and Molecular Mutagenesis

    Volume 53, Issue 7, August 2012, Pages: 505–514, Tzipora C. Falik-Zaccai, Reut Erel-Segal, Liran Horev, Ora Bitterman-Deutsch, Sivan Koka, Sara Chaim, Zohar Keren, Limor Kalfon, Bella Gross, Zvi Segal, Shlomi Orgal, Yishay Shoval, Hanoch Slor, Graciela Spivak and Philip C. Hanawalt

    Version of Record online : 23 JUL 2012, DOI: 10.1002/em.21716

  5. Xeroderma Pigmentosum, Cockayne Syndrome and Trichothiodystrophy

    Harper's Textbook of Pediatric Dermatology, Volume 1, 2, Third Edition

    Alan D. Irvine, Peter H. Hoeger, Albert C. Yan, Pages: 135.1–135.24, 2011

    Published Online : 24 MAY 2011, DOI: 10.1002/9781444345384.ch135

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    Trypanosoma brucei harbours a divergent XPB helicase paralogue that is specialized in nucleotide excision repair and conserved among kinetoplastid organisms

    Molecular Microbiology

    Volume 90, Issue 6, December 2013, Pages: 1293–1308, Nitika Badjatia, Tu N. Nguyen, Ju Huck Lee and Arthur Günzl

    Version of Record online : 8 NOV 2013, DOI: 10.1111/mmi.12435

  7. The Transcription/DNA Repair Factor TFIIH

    Standard Article


    Laura Radu, Anne Maglott-Roth and Arnaud Poterszman

    Published Online : 15 FEB 2013, DOI: 10.1002/9780470015902.a0024192

  8. Identification of ICR170-induced XPD mutations in UV-sensitive CHO cells

    Environmental and Molecular Mutagenesis

    Volume 38, Issue 2-3, 2001, Pages: 111–117, Robert S. Tebbs, Edmund P. Salazar and Larry H. Thompson

    Version of Record online : 26 OCT 2001, DOI: 10.1002/em.1060

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    Mutations in XPB and XPD helicases found in xeroderma pigmentosum patients impair the transcription function of TFIIH

    The EMBO Journal

    Volume 18, Issue 5, March 1, 1999, Pages: 1357–1366, Frédéric Coin, Etienne Bergmann, Alexandre Tremeau-Bravard and Jean-Marc Egly

    Version of Record online : 1 MAR 1999, DOI: 10.1093/emboj/18.5.1357

  10. Mutations in the XPD gene leading to xeroderma pigmentosum symptoms

    Human Mutation

    Volume 9, Issue 4, 1997, Pages: 322–331, Takehiro Kobayashi, Isao Kuraoka, Masafumi Saijo, Yoshimichi Nakatsu, Akemi Tanaka, Yukiko Someda, Shuhei Fukuro and Kiyoji Tanaka

    Version of Record online : 7 JAN 1999, DOI: 10.1002/(SICI)1098-1004(1997)9:4<322::AID-HUMU4>3.0.CO;2-7

  11. Mutations in the XPD gene in xeroderma pigmentosum group D cell strains: Confirmation of genotype-phenotype correlation

    American Journal of Medical Genetics

    Volume 110, Issue 3, 1 July 2002, Pages: 248–252, Takehiro Kobayashi, Makoto Uchiyama, Shuhei Fukuro and Kiyoji Tanaka

    Version of Record online : 10 MAY 2002, DOI: 10.1002/ajmg.10465

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    Trichothiodystrophy group A: A first Japanese patient with a novel homozygous nonsense mutation in the GTF2H5 gene

    The Journal of Dermatology

    Volume 41, Issue 8, August 2014, Pages: 705–708, Shinichi Moriwaki, Hiroshi Saruwatari, Tamotsu Kanzaki, Takuro Kanekura and Shinsei Minoshima

    Version of Record online : 2 JUL 2014, DOI: 10.1111/1346-8138.12549

  13. High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies

    Prenatal Diagnosis

    Volume 31, Issue 11, November 2011, Pages: 1046–1053, Deborah Tamura, Melissa Merideth, John J. DiGiovanna, Xiaolong Zhou, Margaret A. Tucker, Alisa M. Goldstein, Brian P. Brooks, Sikandar G. Khan, Kyu-Seon Oh, Takahiro Ueda, Jennifer Boyle, Roxana Moslehi and Kenneth H. Kraemer

    Version of Record online : 29 JUL 2011, DOI: 10.1002/pd.2829

  14. Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal development

    Clinical Genetics

    Volume 77, Issue 4, April 2010, Pages: 365–373, R Moslehi, C Signore, D Tamura, JL Mills, JJ DiGiovanna, MA Tucker, J Troendle, T Ueda, J Boyle, SG Khan, K-S Oh, AM Goldstein and KH Kraemer

    Version of Record online : 10 DEC 2009, DOI: 10.1111/j.1399-0004.2009.01336.x

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    The phosphorylation of the androgen receptor by TFIIH directs the ubiquitin/proteasome process

    The EMBO Journal

    Volume 30, Issue 3, February 2, 2011, Pages: 468–479, Pierre Chymkowitch, Nicolas Le May, Pierre Charneau, Emmanuel Compe and Jean-Marc Egly

    Version of Record online : 14 DEC 2010, DOI: 10.1038/emboj.2010.337

  16. Hot news: temperature-sensitive humans explain hereditary disease


    Volume 23, Issue 8, August 2001, Pages: 671–673, Errol C. Friedberg

    Version of Record online : 25 JUL 2001, DOI: 10.1002/bies.1094

  17. Repair and processing of DNA damage

    Journal of Cellular Biochemistry

    Volume 59, Issue S21A, 10 March 1995, Pages: 265–351,

    Version of Record online : 19 FEB 2004, DOI: 10.1002/jcb.240590607

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    Generation of DNA single-strand displacement by compromised nucleotide excision repair

    The EMBO Journal

    Volume 31, Issue 17, August 29, 2012, Pages: 3550–3563, Camille Godon, Sophie Mourgues, Julie Nonnekens, Amandine Mourcet, Fréderic Coin, Wim Vermeulen, Pierre-Olivier Mari and Giuseppina Giglia-Mari

    Version of Record online : 3 AUG 2012, DOI: 10.1038/emboj.2012.193

  19. Genetic polymorphisms in DNA repair genes XPC, XPD, and XRCC4, and susceptibility to Helicobacter pylori infection-related gastric antrum adenocarcinoma in Guangxi population, China

    Molecular Carcinogenesis

    Volume 49, Issue 6, June 2010, Pages: 611–618, Xi-Dai Long, Yun Ma, Yong-Zhi Huang, Yun Yi, Qiu-Xiang Liang, Ai-Min Ma, Li-Ping Zeng and Guo-Hui Fu

    Version of Record online : 15 MAR 2010, DOI: 10.1002/mc.20630

  20. Polymorphisms in GSTM1 and XPD genes predict clinical outcome in advanced oral cancer patients treated with postoperative radiotherapy

    Molecular Carcinogenesis

    Volume 51, Issue S1, October 2012, Pages: E94–E103, Manoj B. Mahimkar, Tanuja A. Samant, Sadhana Kannan, Jatin Tulsulkar, Prathamesh S. Pai and Devasena Anantharaman

    Version of Record online : 28 DEC 2011, DOI: 10.1002/mc.21868