Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient
about
Conserved residues of human XPG protein important for nuclease activity and function in nucleotide excision repairHuman exonuclease 1 functionally complements its yeast homologues in DNA recombination, RNA primer removal, and mutation avoidanceA common mutational pattern in Cockayne syndrome patients from xeroderma pigmentosum group G: implications for a second XPG functionMechanisms of interstrand DNA crosslink repair and human disordersA novel homozygous ERCC5 truncating mutation in a family with prenatal arthrogryposis--further evidence of genotype-phenotype correlationLoss of heterozygosity and lack of mutations of the XPG/ERCC5 DNA repair gene at 13q33 in prostate cancer.Xeroderma pigmentosum group G with severe neurological involvement and features of Cockayne syndrome in infancy.Transcription-coupled repair of DNA damage: unanticipated players, unexpected complexities.Deficiency in the nuclease activity of xeroderma pigmentosum G in mice leads to hypersensitivity to UV irradiation.The human XPG gene: gene architecture, alternative splicing and single nucleotide polymorphisms.Transcription domain-associated repair in human cells.Polymorphisms of XPG/ERCC5 and risk of squamous cell carcinoma of the head and neck.An XPG DNA repair defect causing mutagen hypersensitivity in mouse leukemia L1210 cells.Deep phenotyping of 89 xeroderma pigmentosum patients reveals unexpected heterogeneity dependent on the precise molecular defectMechanism of open complex and dual incision formation by human nucleotide excision repair factors.XPG: its products and biological roles.Definition of a short region of XPG necessary for TFIIH interaction and stable recruitment to sites of UV damage.Novel XPG (ERCC5) mutations affect DNA repair and cell survival after ultraviolet but not oxidative stress.Minimal ionizing radiation sensitivity in a large cohort of xeroderma pigmentosum fibroblasts.Xeroderma pigmentosum--Cockayne syndrome complex: a further case.Characterization of a putative helix-loop-helix motif in nucleotide excision repair endonuclease, XPG.Single nucleotide polymorphisms in theXPGgene: Determination of role in DNA repair and breast cancer risk
P2860
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P2860
Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient
description
1994 nî lūn-bûn
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1994 թուականի Յունիսին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի հունիսին հրատարակված գիտական հոդված
@hy
1994年の論文
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1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
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name
Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient
@ast
Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient
@en
Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient
@nl
type
label
Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient
@ast
Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient
@en
Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient
@nl
prefLabel
Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient
@ast
Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient
@en
Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient
@nl
P3181
P356
P1476
Mutations that disable the DNA repair gene XPG in a xeroderma pigmentosum group G patient
@en
P2093
S G Clarkson
T Nouspikel
P3181
P356
10.1093/HMG/3.6.963
P407
P577
1994-06-01T00:00:00Z