Trichothiodystrophy, a transcription syndrome (Q24291198)

ERCC excision repair 3, TFIIH core complex helicase subunit

Europe PubMed Central

title

Trichothiodystrophy, a transcription syndrome (English)

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main subject

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ERCC excision repair 2, TFIIH core complex helicase subunit

GOA release 2020-03-11

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hair cell differentiation

GOA release 2020-03-11

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Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex.

GOA release 2020-03-11

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2

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author name string

E Bergmann

series ordinal

1

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language of work or name

English

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publication date

May 2001

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published in

Trends in Genetics

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volume

17

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issue

5

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page(s)

279-86

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cites work

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6

7 January 2021

Trichothiodystrophy: review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias

1 reference

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7 January 2021

Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6

7 January 2021

Selective removal of transcription-blocking DNA damage from the transcribed strand of the mammalian DHFR gene

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6

7 January 2021

Model for XPC-independent transcription-coupled repair of pyrimidine dimers in humans

1 reference

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7 January 2021

Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.

1 reference

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7 January 2021

Relationship between pyrimidine dimers, 6-4 photoproducts, repair synthesis and cell survival: studies using cells from patients with trichothiodystrophy

1 reference

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7 January 2021

Three Unusual Repair Deficiencies Associated with Transcription Factor BTF2(TFIIH): Evidence for the Existence of a Transcription Syndrome

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6

7 January 2021

Activation of estrogen receptor alpha by S118 phosphorylation involves a ligand-dependent interaction with TFIIH and participation of CDK7

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6

7 January 2021

TFIIH interacts with the retinoic acid receptor gamma and phosphorylates its AF-1-activating domain through cdk7

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6

7 January 2021

Mutations in the XPD helicase gene result in XP and TTD phenotypes, preventing interaction between XPD and the p44 subunit of TFIIH

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6

7 January 2021

TFIIH is negatively regulated by cdk8-containing mediator complexes

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6

7 January 2021

A Role for the TFIIH XPB DNA Helicase in Promoter Escape by RNA Polymerase II

1 reference

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7 January 2021

Distinct roles for the helicases of TFIIH in transcript initiation and promoter escape

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6

7 January 2021

Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy

1 reference

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7 January 2021

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

1 reference

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7 January 2021

A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy

1 reference

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7 January 2021

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

1 reference

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7 January 2021

TFIIH with inactive XPD helicase functions in transcription initiation but is defective in DNA repair.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6

7 January 2021

DNA repair. Engagement with transcription

1 reference

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7 January 2021

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

1 reference

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7 January 2021

Nucleotide excision repair and human syndromes

1 reference

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7 January 2021

A Drosophila model for xeroderma pigmentosum and Cockayne's syndrome: haywire encodes the fly homolog of ERCC3, a human excision repair gene

1 reference

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7 January 2021

DNA repair helicase: a component of BTF2 (TFIIH) basic transcription factor

1 reference

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7 January 2021

A temperature-sensitive disorder in basal transcription and DNA repair in humans

1 reference

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7 January 2021

Striking differences in cellular catalase activity between two DNA repair-deficient diseases: xeroderma pigmentosum and trichothiodystrophy

1 reference

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7 January 2021

UV-induced mutations in a shuttle vector replicated in repair deficient trichothiodystrophy cells differ with those in genetically-related cancer prone xeroderma pigmentosum

1 reference

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7 January 2021

Characteristics of UV-induced mutation spectra in human XP-D/ERCC2 gene-mutated xeroderma pigmentosum and trichothiodystrophy cells

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6

7 January 2021

Immune defects in families and patients with xeroderma pigmentosum and trichothiodystrophy

1 reference

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7 January 2021

Photocarcinogenesis and inhibition of intercellular adhesion molecule 1 expression in cells of DNA-repair-defective individuals

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6

7 January 2021

DNA repair investigations in nine Italian patients affected by trichothiodystrophy.

1 reference

https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6

7 January 2021

Stable SV40-transformation and characterisation of some DNA repair properties of fibroblasts from a trichothiodystrophy patient

1 reference

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7 January 2021