Trichothiodystrophy, a transcription syndrome

Trends in Genetics

Volumn 17, Issue 5, 2001, Pages 279-286

  Bergmann, Etienne ^a   Egly, Jean Marc ^a  

^a INSTITUT DE GÉNÉTIQUE ET DE BIOLOGIE MOLÉCULAIRE ET CELLULAIRE   (France)

Author keywords

[No Author keywords available]

Indexed keywords

HELICASE;

CLINICAL FEATURE; ENZYME SUBUNIT; EXCISION REPAIR; GENETIC TRANSCRIPTION; HUMAN; NEUROECTODERM; PHOTOSENSITIVITY; PRIORITY JOURNAL; REVIEW; TRICHOTHIODYSTROPHY;

ABNORMALITIES, MULTIPLE; DNA HELICASES; DNA REPAIR; DNA-BINDING PROTEINS; HAIR DISEASES; HUMANS; ICHTHYOSIS; NEUROCUTANEOUS SYNDROMES; PHENOTYPE; PHOTOSENSITIVITY DISORDERS; PROTEINS; TRANSCRIPTION FACTOR TFIIH; TRANSCRIPTION FACTORS; TRANSCRIPTION FACTORS, TFII; TRANSCRIPTION, GENETIC; ULTRAVIOLET RAYS; XERODERMA PIGMENTOSUM GROUP D PROTEIN;

EID: 0035340869     PISSN: 01689525     EISSN: None     Source Type: Journal    
DOI: 10.1016/S0168-9525(01)02280-6     Document Type: Review

References (49)

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3. Formation of disulphide bonds in the nucleus and accessory structures of mammalian spermatozoa during maturation in the epididymis
4. Xeroderma pigmentosum (complementation group D) mutation is present in patients affected with trichothiodystrophy with photosensitivity
5. Selective removal of transcription-blocking DNA damage from the transcribed strand of the mammalian DHFR gene
6. Model for XPC-independent transcription-coupled repair of pyrimidine dimers in humans
7. Trichothiodystrophy, a human DNA repair disorder with heterogeneity in the cellular response to ultraviolet light
8. Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy
9. Relationship between pyrimidine dimers, 6-4 photoproducts, repair synthesis and cell survival: Studies using cells from patients with trichothiodystrophy
10. Different removal of ultraviolet photoproducts in genetically related xeroderma pigmentosum and trichothiodystrophy diseases
11. Cyclobutane pyrimidine dimers are the main mutagenic DNA photoproduct in DNA repair-deficient trichothiodystrophy cells
12. Three unusual repair deficiencies associated with transcription factor BTF2 (TFIIH). Evidence for the existence of a transcription syndrome
13. Reconstitution of the transcription factor TFIIH: Assignment of the functions for the three enzymatic subunits, XPB, XPD and cdk7
14. Sublimiting concentration of TFIIH transcription/DNA repair factor causes TTD-A trichothiodystrophy disorder
15. Activation of estrogen receptor α by S118 phosphorylation involves a ligand-dependent interaction with TFIIH and participation of CDK7
16. TFIIH interacts with the retinoic acid receptor γ and phosphorylates its AF-1-activating domain through cdk7
17. Mutations in the XPD helicase result in XP and TTD phenotypes, preventing the interaction of XPD with the p44 subunit of TFIIH
18. TFIIH is negatively regulated by cdk8-containing mediator complexes
19. A role for the TFIIH XPB DNA helicase in promoter escape by RNA polymerase II
20. Distinct roles for the helicases of TFIIH in transcript initiation and promoter escape
21. Mutations in the xeroderma pigmentosum group D DNA repair/transcription gene in patients with trichothiodystrophy
22. Molecular and cellular analysis of the DNA repair defect in a patient with xeroderma pigmentosum complementation group D with the clinical features of xeroderma pigmentosum and Cockayne syndrome
23. Defects in the DNA repair and transcription gene ERCC2 in the cancer-prone disorder xeroderma pigmentosum group D
24. Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy
25. Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene
26. A mouse model for the basal transcription/DNA repair syndrome trichothiodystrophy
27. 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
28. DNA repair characteristics and mutations in the ERCC2 DNA repair and transcription gene in a trichothiodystrophy patient
29. The cancer-free phenotype in trichothiodystrophy is unrelated to its repair defect
30. TFIIH with inactive XPD helicase functions in transcription initiation but is defective in DNA repair
31. A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy
32. DNA repair. Engagement with transcription
33. Transcription-coupled repair of 8-oxoGuanine requirement for XPG, TFIIH, and CSB and implications for Cockayne syndrome
34. Nucleotide excision repair and human syndromes
35. Disruption of the mouse xeroderma pigmentosum group D DNA repair/basal transcription gene results in preimplantation lethality
36. A Drosophila model for xeroderma pigmentosum and Cockayne's syndrome: Haywire encodes the fly homolog of ERCC3, a human excision repair gene
37. DNA repair helicase: A component of BTF2 (TFIIH) basic transcription factor
38. A temperature-sensitive disorder in basal transcription and DNA repair in humans
39. Differential behaviors toward ultraviolet A and B radiation of fibroblasts and keratinocytes from normal and DNA-repair-deficient patients
40. 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
41. Striking differences in cellular catalase activity between two DNA repair-deficient diseases: Xeroderma pigmentosum and trichothiodystrophy
42. UV-induced mutations in a shuttle vector replicated in repair deficient trichothiodystrophy cells differ with those in genetically-related cancer prone xeroderma pigmentosum
43. Characteristics of UV-induced mutation spectra in human XP-D/ERCC2 gene-mutated xeroderma pigmentosum and trichothiodystrophy cells
44. Immune defects in families and patients with xeroderma pigmentosum and trichothiodystrophy
45. Photocarcinogenesis and inhibition of intercellular adhesion molecule 1 expression in cells of DNA-repair-defective individuals
46. Mouse model for the DNA repair/basal transcription disorder trichothiodystrophy reveals cancer predisposition
47. Syndromes associated with trichothiodystrophy
48. DNA repair investigations in nine Italian patients affected by trichothiodystrophy
49. Stable SV40-transformation and characterixation of some DNA repair properties of fibroblasts from a trichothiodystrophy patient