Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.
about
Cloning of a human homolog of the yeast nucleotide excision repair gene MMS19 and interaction with transcription repair factor TFIIH via the XPB and XPD helicasesMutations in UVSSA cause UV-sensitive syndrome and impair RNA polymerase IIo processing in transcription-coupled nucleotide-excision repairDNA nucleotide excision repair-dependent signaling to checkpoint activationDisruption of TTDA results in complete nucleotide excision repair deficiency and embryonic lethalityTrichothiodystrophy: a systematic review of 112 published cases characterises a wide spectrum of clinical manifestationsMolecular 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 syndromePIBI(D)S: clinical and molecular characterization of a new case.Slowly progressing nucleotide excision repair in trichothiodystrophy group A patient fibroblasts.Cockayne syndrome and xeroderma pigmentosum.A mutation in the XPB/ERCC3 DNA repair transcription gene, associated with trichothiodystrophy.Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.Photocarcinogenesis and inhibition of intercellular adhesion molecule 1 expression in cells of DNA-repair-defective individualsXeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.Recruitment of the nucleotide excision repair endonuclease XPG to sites of UV-induced dna damage depends on functional TFIIH.Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene.Restoring DNA repair capacity of cells from three distinct diseases by XPD gene-recombinant adenovirus.A new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy.Use of the alkaline comet assay to detect DNA repair deficiencies in human fibroblasts exposed to UVC, UVB, UVA and gamma-rays.UVs syndrome, a new general category of photosensitive disorder with defective DNA repair, is distinct from xeroderma pigmentosum variant and rodent complementation group I.A rapid, comprehensive system for assaying DNA repair activity and cytotoxic effects of DNA-damaging reagents.UV mutation signature in tumor suppressor genes involved in skin carcinogenesis in xeroderma pigmentosum patients.Defective dendritic cell maturation in a child with nucleotide excision repair deficiency and CD4 lymphopenia.Mutations in the XPD gene in xeroderma pigmentosum group D cell strains: confirmation of genotype-phenotype correlation.A rapid non-radioactive technique for measurement of repair synthesis in primary human fibroblasts by incorporation of ethynyl deoxyuridine (EdU).XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression.Proneness to UV-induced apoptosis in human fibroblasts defective in transcription coupled repair is associated with the lack of Mdm2 transactivation.From proteomics to disease.A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship.Chromosomal fragility in the cancer-prone disease xeroderma pigmentosum preferentially involves bands relevant for cutaneous carcinogenesis.
P2860
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P2860
Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.
description
1993 nî lūn-bûn
@nan
1993年の論文
@ja
1993年学术文章
@wuu
1993年学术文章
@zh
1993年学术文章
@zh-cn
1993年学术文章
@zh-hans
1993年学术文章
@zh-my
1993年学术文章
@zh-sg
1993年學術文章
@yue
1993年學術文章
@zh-hant
name
Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.
@en
Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.
@nl
type
label
Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.
@en
Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.
@nl
prefLabel
Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.
@en
Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy.
@nl
P2093
P356
P1433
P1476
Genetic heterogeneity of the excision repair defect associated with trichothiodystrophy
@en
P2093
A Peserico
A R Lehmann
M Stefanini
P Lagomarsini
W J Kleijer
P304
P356
10.1093/CARCIN/14.6.1101
P407
P50
P577
1993-06-01T00:00:00Z