Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients.
about
Disease-causing missense mutations in human DNA helicase disordersDynamic partnership between TFIIH, PGC-1α and SIRT1 is impaired in trichothiodystrophy.Ocular manifestations of trichothiodystrophyCancer and neurologic degeneration in xeroderma pigmentosum: long term follow-up characterises the role of DNA repair.Effect of mutations in XPD(ERCC2) on pregnancy and prenatal development in mothers of patients with trichothiodystrophy or xeroderma pigmentosumARCH domain of XPD, an anchoring platform for CAK that conditions TFIIH DNA repair and transcription activitiesDeep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defectGTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient TrichothiodystrophyAbnormal XPD-induced nuclear receptor transactivation in DNA repair disorders: trichothiodystrophy and xeroderma pigmentosum.Xeroderma Pigmentosum-Trichothiodystrophy overlap patient with novel XPD/ERCC2 mutationA Drosophila XPD model links cell cycle coordination with neuro-development and suggests links to cancer.Functional and molecular genetic analyses of nine newly identified XPD-deficient patients reveal a novel mutation resulting in TTD as well as in XP/CS complex phenotypes.Long range haplotyping of paired-homologous chromosomes by single-chromosome sequencing of a single cell.MED23 mutation links intellectual disability to dysregulation of immediate early gene expression.
P2860
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P2860
Both XPD alleles contribute to the phenotype of compound heterozygote xeroderma pigmentosum patients.
description
2009 nî lūn-bûn
@nan
2009 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2009 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
2009年の論文
@ja
2009年論文
@yue
2009年論文
@zh-hant
2009年論文
@zh-hk
2009年論文
@zh-mo
2009年論文
@zh-tw
2009年论文
@wuu
name
Both XPD alleles contribute to ...... eroderma pigmentosum patients.
@ast
Both XPD alleles contribute to ...... eroderma pigmentosum patients.
@en
type
label
Both XPD alleles contribute to ...... eroderma pigmentosum patients.
@ast
Both XPD alleles contribute to ...... eroderma pigmentosum patients.
@en
prefLabel
Both XPD alleles contribute to ...... eroderma pigmentosum patients.
@ast
Both XPD alleles contribute to ...... eroderma pigmentosum patients.
@en
P2860
P50
P356
P1476
Both XPD alleles contribute to ...... eroderma pigmentosum patients.
@en
P2093
Philippe Catez
Takahiro Ueda
P2860
P304
P356
10.1084/JEM.20091892
P407
P577
2009-11-23T00:00:00Z