Rescue of progeria in trichothiodystrophy by homozygous lethal Xpd alleles (Q28469053)

GOA release 2020-03-11

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Frederic Coin

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Jaan-Olle Andressoo

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Jan H J Hoeijmakers

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author name string

Judith Jans

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Jan de Wit

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Marieke van de Ven

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Wendy Toussaint

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Jan Huijmans

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H Bing Thio

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Wibeke J van Leeuwen

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Jan de Boer

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Gijsbertus T J van der Horst

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James R Mitchell

Creative Commons Attribution 4.0 International

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language of work or name

English

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publication date

October 2006

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e322

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start time

3 October 2006

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April 2022 Public Data File from Crossref

copyrighted

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cites work

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A summary of mutations in the UV-sensitive disorders: xeroderma pigmentosum, Cockayne syndrome, and trichothiodystrophy

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Anti-tumour compounds illudin S and Irofulven induce DNA lesions ignored by global repair and exclusively processed by transcription- and replication-coupled repair pathways.

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Two individuals with features of both xeroderma pigmentosum and trichothiodystrophy highlight the complexity of the clinical outcomes of mutations in the XPD gene

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Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.

29 September 2017

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Basal transcription defect discriminates between xeroderma pigmentosum and trichothiodystrophy in XPD patients

29 September 2017

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Mutations in the general transcription factor TFIIH result in beta-thalassaemia in individuals with trichothiodystrophy

2 June 2018

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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

27 November 2018

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