DNA repair investigations in nine Italian patients affected by trichothiodystrophy.
about
A yeast four-hybrid system identifies Cdk-activating kinase as a regulator of the XPD helicase, a subunit of transcription factor IIHIdentification of C7orf11 (TTDN1) gene mutations and genetic heterogeneity in nonphotosensitive trichothiodystrophy.Correction of the DNA repair defect in xeroderma pigmentosum group E by injection of a DNA damage-binding proteinTrichothiodystrophy: 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 syndromeMutations in the C7orf11 (TTDN1) gene in six nonphotosensitive trichothiodystrophy patients: no obvious genotype-phenotype relationshipsA UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damageRelationship of the xeroderma pigmentosum group E DNA repair defect to the chromatin and DNA binding proteins UV-DDB and replication protein A.A novel mutation in the XPA gene associated with unusually mild clinical features in a patient who developed a spindle cell melanoma.Ectodermal dysplasias: not only 'skin' deep.Mutations in XPA that prevent association with ERCC1 are defective in nucleotide excision repair.Histone methyltransferase DOT1L drives recovery of gene expression after a genotoxic attack.TFIIH subunit alterations causing xeroderma pigmentosum and trichothiodystrophy specifically disturb several steps during transcription.Defects in the DNA repair and transcription gene ERCC2(XPD) in trichothiodystrophy.Xeroderma pigmentosum and trichothiodystrophy are associated with different mutations in the XPD (ERCC2) repair/transcription gene.GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient TrichothiodystrophyA new nucleotide-excision-repair gene associated with the disorder trichothiodystrophy.Evidence for a repair enzyme complex involving ERCC1 and complementing activities of ERCC4, ERCC11 and xeroderma pigmentosum group F.Genes controlling nucleotide excision repair in eukaryotic cells.UVs syndrome, a new general category of photosensitive disorder with defective DNA repair, is distinct from xeroderma pigmentosum variant and rodent complementation group I.Immune defects in families and patients with xeroderma pigmentosum and trichothiodystrophy.A rapid non-radioactive technique for measurement of repair synthesis in primary human fibroblasts by incorporation of ethynyl deoxyuridine (EdU).Intermittent hair loss in a child with PIBI(D)S syndrome and trichothiodystrophy with defective DNA repair-xeroderma pigmentosum group D.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.A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship.New clinico-genetic classification of trichothiodystrophy.
P2860
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P2860
DNA repair investigations in nine Italian patients affected by trichothiodystrophy.
description
1992 nî lūn-bûn
@nan
1992 թուականի Մարտին հրատարակուած գիտական յօդուած
@hyw
1992 թվականի մարտին հրատարակված գիտական հոդված
@hy
1992年の論文
@ja
1992年論文
@yue
1992年論文
@zh-hant
1992年論文
@zh-hk
1992年論文
@zh-mo
1992年論文
@zh-tw
1992年论文
@wuu
name
DNA repair investigations in nine Italian patients affected by trichothiodystrophy.
@ast
DNA repair investigations in nine Italian patients affected by trichothiodystrophy.
@en
type
label
DNA repair investigations in nine Italian patients affected by trichothiodystrophy.
@ast
DNA repair investigations in nine Italian patients affected by trichothiodystrophy.
@en
prefLabel
DNA repair investigations in nine Italian patients affected by trichothiodystrophy.
@ast
DNA repair investigations in nine Italian patients affected by trichothiodystrophy.
@en
P2093
P1433
P1476
DNA repair investigations in nine Italian patients affected by trichothiodystrophy
@en
P2093
P304
P356
10.1016/0921-8777(92)90073-C
P407
P50
P577
1992-03-01T00:00:00Z