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Trichothiodystrophy, a transcription syndrome
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scholarly article
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review article
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Europe PubMed Central
title
Trichothiodystrophy, a transcription syndrome
(English)
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main subject
ERCC excision repair 3, TFIIH core complex helicase subunit
1 reference
stated in
GOA release 2020-03-11
ERCC excision repair 2, TFIIH core complex helicase subunit
1 reference
stated in
GOA release 2020-03-11
hair cell differentiation
1 reference
stated in
GOA release 2020-03-11
trichothiodystrophy
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based on heuristic
inferred from title
author
Jean-Marc Egly
series ordinal
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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page(s)
279-86
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issue
5
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cites work
Trichothiodystrophy: sulfur-deficient brittle hair as a marker for a neuroectodermal symptom complex.
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reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6
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7 January 2021
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inferred from DOI database lookup
Trichothiodystrophy: review of sulfur-deficient brittle hair syndromes and association with the ectodermal dysplasias
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6
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7 January 2021
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inferred from DOI database lookup
Xeroderma pigmentosum (complementation group D) mutation is present in patients affected by trichothiodystrophy with photosensitivity.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6
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7 January 2021
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Selective removal of transcription-blocking DNA damage from the transcribed strand of the mammalian DHFR gene
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6
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7 January 2021
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Model for XPC-independent transcription-coupled repair of pyrimidine dimers in humans
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6
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7 January 2021
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Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6
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7 January 2021
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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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reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6
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7 January 2021
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Three unusual repair deficiencies associated with transcription factor BTF2(TFIIH): evidence for the existence of a transcription syndrome
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6
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7 January 2021
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Reconstitution of the transcription factor TFIIH: assignment of functions for the three enzymatic subunits, XPB, XPD, and cdk7
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6
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7 January 2021
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Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6
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7 January 2021
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Activation of estrogen receptor alpha by S118 phosphorylation involves a ligand-dependent interaction with TFIIH and participation of CDK7
1 reference
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https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6
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7 January 2021
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TFIIH interacts with the retinoic acid receptor gamma and phosphorylates its AF-1-activating domain through cdk7
1 reference
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https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6
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7 January 2021
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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
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6
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7 January 2021
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TFIIH is negatively regulated by cdk8-containing mediator complexes
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6
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7 January 2021
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A Role for the TFIIH XPB DNA Helicase in Promoter Escape by RNA Polymerase II
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Distinct roles for the helicases of TFIIH in transcript initiation and promoter escape
1 reference
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https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6
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7 January 2021
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Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6
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7 January 2021
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Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6
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7 January 2021
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A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy
1 reference
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https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6
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7 January 2021
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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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reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6
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7 January 2021
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inferred from DOI database lookup
TFIIH with inactive XPD helicase functions in transcription initiation but is defective in DNA repair.
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6
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7 January 2021
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DNA repair. Engagement with transcription
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reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6
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7 January 2021
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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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https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6
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7 January 2021
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Nucleotide excision repair and human syndromes
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https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6
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7 January 2021
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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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reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6
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7 January 2021
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DNA repair helicase: a component of BTF2 (TFIIH) basic transcription factor
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6
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7 January 2021
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A temperature-sensitive disorder in basal transcription and DNA repair in humans
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https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6
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7 January 2021
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Striking differences in cellular catalase activity between two DNA repair-deficient diseases: xeroderma pigmentosum and trichothiodystrophy
1 reference
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reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6
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7 January 2021
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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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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Characteristics of UV-induced mutation spectra in human XP-D/ERCC2 gene-mutated xeroderma pigmentosum and trichothiodystrophy cells
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6
retrieved
7 January 2021
based on heuristic
inferred from DOI database lookup
Immune defects in families and patients with xeroderma pigmentosum and trichothiodystrophy
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6
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7 January 2021
based on heuristic
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Photocarcinogenesis and inhibition of intercellular adhesion molecule 1 expression in cells of DNA-repair-defective individuals
1 reference
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Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6
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7 January 2021
based on heuristic
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DNA repair investigations in nine Italian patients affected by trichothiodystrophy.
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6
retrieved
7 January 2021
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Stable SV40-transformation and characterisation of some DNA repair properties of fibroblasts from a trichothiodystrophy patient
1 reference
stated in
Crossref
reference URL
https://api.crossref.org/works/10.1016%2FS0168-9525%2801%2902280-6
retrieved
7 January 2021
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Identifiers
DOI
10.1016/S0168-9525(01)02280-6
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PubMed ID
11335038
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