Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.
about
Adverse effects of trichothiodystrophy DNA repair and transcription gene disorder on human fetal developmentNucleotide excision repair proteins rapidly accumulate but fail to persist in human XP-E (DDB2 mutant) cellsBoth XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients.XPC branch-point sequence mutations disrupt U2 snRNP binding, resulting in abnormal pre-mRNA splicing in xeroderma pigmentosum patients.XPB induces C1D expression to counteract UV-induced apoptosis.On the traces of XPD: cell cycle matters - untangling the genotype-phenotype relationship of XPD mutationsXPB and XPD helicases in TFIIH orchestrate DNA duplex opening and damage verification to coordinate repair with transcription and cell cycle via CAK kinase.Ocular manifestations of trichothiodystrophyCancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair.High-risk pregnancy and neonatal complications in the DNA repair and transcription disorder trichothiodystrophy: report of 27 affected pregnancies.Mutations in the TTDN1 gene are associated with a distinct trichothiodystrophy phenotype.Brittle hair, developmental delay, neurologic abnormalities, and photosensitivity in a 4-year-old girl.Influence of a pre-stimulation with chronic low-dose UVB on stress response mechanisms in human skin fibroblastsEffect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosumLack of CAK complex accumulation at DNA damage sites in XP-B and XP-B/CS fibroblasts reveals differential regulation of CAK anchoring to core TFIIH by XPB and XPD helicases during nucleotide excision repair.GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient TrichothiodystrophyOcular manifestations of xeroderma pigmentosum: long-term follow-up highlights the role of DNA repair in protection from sun damageAbnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.Xeroderma pigmentosum-Cockayne syndrome complex.Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene.TGF-β signaling links E-cadherin loss to suppression of nucleotide excision repair.Defective Hfp-dependent transcriptional repression of dMYC is fundamental to tissue overgrowth in Drosophila XPB models.Xeroderma Pigmentosum-Trichothiodystrophy overlap patient with novel XPD/ERCC2 mutationA novel XPD mutation in a compound heterozygote; the mutation in the second allele is present in three homozygous patients with mild sun sensitivity.Molecular genetic analysis of 16 XP-C patients from Germany: environmental factors predominately contribute to phenotype variations.A Turkish trichothiodystrophy patient with homozygous XPD mutation and genotype-phenotype relationship.A Japanese trichothiodystrophy patient with XPD mutations.
P2860
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P2860
Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2 (XPD) mutations: cancer-prone xeroderma pigmentosum vs. non-cancer-prone trichothiodystrophy.
description
2008 nî lūn-bûn
@nan
2008 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2008 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2008年の論文
@ja
2008年論文
@yue
2008年論文
@zh-hant
2008年論文
@zh-hk
2008年論文
@zh-mo
2008年論文
@zh-tw
2008年论文
@wuu
name
Persistence of repair proteins ...... cer-prone trichothiodystrophy.
@ast
Persistence of repair proteins ...... cer-prone trichothiodystrophy.
@en
Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2
@nl
type
label
Persistence of repair proteins ...... cer-prone trichothiodystrophy.
@ast
Persistence of repair proteins ...... cer-prone trichothiodystrophy.
@en
Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2
@nl
prefLabel
Persistence of repair proteins ...... cer-prone trichothiodystrophy.
@ast
Persistence of repair proteins ...... cer-prone trichothiodystrophy.
@en
Persistence of repair proteins at unrepaired DNA damage distinguishes diseases with ERCC2
@nl
P2093
P2860
P4510
P356
P1433
P1476
Persistence of repair proteins ...... cer-prone trichothiodystrophy.
@en
P2093
Carine Nadem
Deborah Tamura
Jared Jagdeo
Jennifer Boyle
John J Digiovanna
Kyoko Imoto
Kyu-Seon Oh
Takahiro Ueda
P2860
P304
P356
10.1002/HUMU.20768
P577
2008-10-01T00:00:00Z