A new, tenth subunit of TFIIH is responsible for the DNA repair syndrome trichothiodystrophy group A (Q28268795)

1

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Nils Wijgers

6

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Deborah Hoogstraten

4

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Wim Vermeulen

16

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Jean-Marc Egly

13

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Elena Botta

Elena Botta

11

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Frédéric Coin

Frederic Coin

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Ruedi Aebersold

14

Ruedi Aebersold

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Arjan F Theil

5

Arjan Theil

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Jan Hoeijmakers

15

Jan H J Hoeijmakers

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Miria Stefanini

12

Miria Stefanini

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author name string

Jeffrey A Ranish

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Nicolaas G J Jaspers

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Anja Raams

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Manuela Argentini

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P J van der Spek

Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder

10

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language of work or name

English

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publication date

July 2004

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published in

Nature Genetics

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volume

36

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page(s)

714-9

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issue

7

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cites work

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The xeroderma pigmentosum group D (XPD) gene: one gene, two functions, three diseases

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Genome maintenance mechanisms for preventing cancer

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Premature aging in mice deficient in DNA repair and transcription

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Molecular structure of human TFIIH

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Sequential assembly of the nucleotide excision repair factors in vivo

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Novel subunits of the TATA binding protein free TAFII-containing transcription complex identified by matrix-assisted laser desorption/ionization-time of flight mass spectrometry following one-dimensional gel electrophoresis

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Mutational analysis of the human nucleotide excision repair gene ERCC1

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The comings and goings of nucleotide excision repair factors on damaged DNA

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Identification of TFB5, a new component of general transcription and DNA repair factor IIH.

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The 14th Datta Lecture. TFIIH: from transcription to clinic

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Transcription-coupled repair of 8-oxoguanine: requirement for XPG, TFIIH, and CSB and implications for Cockayne syndrome

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1 reference

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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1 reference

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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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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Three unusual repair deficiencies associated with transcription factor BTF2(TFIIH): evidence for the existence of a transcription syndrome

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Electron crystal structure of the transcription factor and DNA repair complex, core TFIIH.

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REX1, a Novel Gene Required for DNA Repair

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Local UV-induced DNA damage in cell nuclei results in local transcription inhibition

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Rapid switching of TFIIH between RNA polymerase I and II transcription and DNA repair in vivo.

21 January 2018

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Xeroderma pigmentosum group A protein loads as a separate factor onto DNA lesions

21 January 2018

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Reconstitution of the transcription factor TFIIH: assignment of functions for the three enzymatic subunits, XPB, XPD, and cdk7

21 January 2018

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The Cockayne syndrome B protein, involved in transcription-coupled DNA repair, resides in an RNA polymerase II-containing complex

21 January 2018

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