Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene.
about
Both 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.Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.GTF2E2 Mutations Destabilize the General Transcription Factor Complex TFIIE in Individuals with DNA Repair-Proficient TrichothiodystrophyChronic oxidative damage together with genome repair deficiency in the neurons is a double whammy for neurodegeneration: Is damage response signaling a potential therapeutic target?A Drosophila XPD model links cell cycle coordination with neuro-development and suggests links to cancer.XPD mutations in trichothiodystrophy hamper collagen VI expression and reveal a role of TFIIH in transcription derepression.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
Genotype-phenotype relationships in trichothiodystrophy patients with novel splicing mutations in the XPD gene.
description
2009 nî lūn-bûn
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2009年の論文
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2009年学术文章
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2009年学术文章
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name
Genotype-phenotype relationshi ...... ing mutations in the XPD gene.
@en
Genotype-phenotype relationshi ...... ing mutations in the XPD gene.
@nl
type
label
Genotype-phenotype relationshi ...... ing mutations in the XPD gene.
@en
Genotype-phenotype relationshi ...... ing mutations in the XPD gene.
@nl
prefLabel
Genotype-phenotype relationshi ...... ing mutations in the XPD gene.
@en
Genotype-phenotype relationshi ...... ing mutations in the XPD gene.
@nl
P2093
P2860
P356
P1433
P1476
Genotype-phenotype relationshi ...... cing mutations in the XPD gene
@en
P2093
Francesco Benedicenti
Giovanna Zambruno
Miria Stefanini
Roberta Guglielmino
Roberta Ricotti
Sergio Bondanza
Tiziana Nardo
P2860
P304
P356
10.1002/HUMU.20912
P577
2009-03-01T00:00:00Z