Trichothiodystrophy, a transcription syndrome

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

1987 • 1,235 citations

DNA Repair Helicase: a Component of BTF2 (TFIIH) Basic Transcription Factor

1993 • 795 citations

Nucleotide excision repair and human syndromes

2000 • 663 citations

Formation of disulphide bonds in the nucleus and accessory structures of mammalian spermatozoa during maturation in the epididymis.

1971 • 400 citations

TFIIH is negatively regulated by cdk8-containing mediator complexes

2000 • 381 citations

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

1998 • 346 citations

Reconstitution of the Transcription Factor TFIIH

1999 • 296 citations

Activation of Estrogen Receptor α by S118 Phosphorylation Involves a Ligand-Dependent Interaction with TFIIH and Participation of CDK7

2000 • 286 citations

RETRACTED: Transcription-Coupled Repair of 8-oxoGuanine

2000 • 279 citations

Transcription-Coupled Repair of 8-oxoguanine: Requirement for XPG, TFIIH, and CSB and Implications for Cockayne Syndrome

2005 • 275 citations

Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD ( ERCC 2) repair/transcription gene

1997 • 257 citations

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

1980 • 197 citations

A Mouse Model for the Basal Transcription/DNA Repair Syndrome Trichothiodystrophy

1998 • 193 citations

TFIIH with Inactive XPD Helicase Functions in Transcription Initiation but Is Defective in DNA Repair

2000 • 175 citations

A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.

1997 • 162 citations

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

1994 • 144 citations

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

1990 • 143 citations

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

1992 • 139 citations

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

1986 • 135 citations

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

1994 • 134 citations

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

2000 • 128 citations

Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy

1993 • 117 citations

Molecular and cellular analysis of the DNA repair defect in a patient in xeroderma pigmentosum complementation group D who has the clinical features of xeroderma pigmentosum and Cockayne syndrome.

1995 • 114 citations

Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.

1996 • 112 citations

Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D.

1995 • 110 citations

Disruption of the mouse xeroderma pigmentosum group D DNA repair/basal transcription gene results in preimplantation lethality.

1998 • 108 citations

TFIIH Interacts with the Retinoic Acid Receptor γ and Phosphorylates Its AF-1-activating Domain through cdk7

2000 • 106 citations

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

2001 • 105 citations

Trichothiodystrophy, a human DNA repair disorder with heterogeneity in the cellular response to ultraviolet light.

1988 • 104 citations

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

1998 • 102 citations

Model for XPC-independent Transcription-coupled Repair of Pyrimidine Dimers in Humans

1997 • 101 citations

Different removal of ultraviolet photoproducts in genetically related xeroderma pigmentosum and trichothiodystrophy diseases.

1995 • 91 citations

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

1999 • 89 citations

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

1990 • 76 citations

Distinct Roles for the Helicases of TFIIH in Transcript Initiation and Promoter Escape

2000 • 73 citations

DNA repair investigations in nine Italian patients affected by trichothiodystrophy

1992 • 73 citations

Differential behaviors toward ultraviolet A and B radiation of fibroblasts and keratinocytes from normal and DNA-repair-deficient patients.

1999 • 70 citations

Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition.

1999 • 68 citations

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

1992 • 67 citations

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

1997 • 64 citations

Immune defects in families and patients with xeroderma pigmentosum and trichothiodystrophy

1992 • 56 citations

Activation of Estrogen Receptor ? by S118 Phosphorylation Involves a Ligand-Dependent Interaction with TFIIH and Participation of CDK7

2000 • 50 citations

The cancer-free phenotype in trichothiodystrophy is unrelated to its repair defect.

2000 • 40 citations

DNA repair characteristics and mutations in theERCC2 DNA repair and transcription gene in a trichothiodystrophy patient

1997 • 39 citations

Syndromes associate with trichotodystrophy

1994 • 39 citations

Characteristics of UV-induced Mutation Spectra in Human XP-D/ERCC2 Gene-mutated Xeroderma Pigmentosum and Trichothiodystrophy Cells

1995 • 32 citations

Cyclobutane pyrimidine dimers are the main mutagenic DNA photoproducts in DNA repair-deficient trichothiodystrophy cells.

1998 • 28 citations

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

1993 • 16 citations

A lack of radiation-induced ornithine decarboxylase activity prevents enhanced reactivation of herpes simplex virus and is linked to non-cancer proneness in xeroderma pigmentosum patients.

1997 • 10 citations

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

1995 • 8 citations