Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome
about
The ATPase domain but not the acidic region of Cockayne syndrome group B gene product is essential for DNA repairNew RAB3GAP1 mutations in patients with Warburg Micro Syndrome from different ethnic backgrounds and a possible founder effect in the DanishStructure, function and regulation of CSB: a multi-talented gymnastIdentification of two missense mutations of ERCC6 in three Chinese sisters with Cockayne syndrome by whole exome sequencingA novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotypeThe ERCC6 gene and age-related macular degenerationAn abundant evolutionarily conserved CSB-PiggyBac fusion protein expressed in Cockayne syndromeCockayne syndrome group B (Csb) and group a (Csa) deficiencies predispose to hearing loss and cochlear hair cell degeneration in mice.Secondary analysis of publicly available data reveals superoxide and oxygen radical pathways are enriched for associations between type 2 diabetes and low-frequency variants.Cockayne syndrome in adults: review with clinical and pathologic study of a new case.ERCC6L2 mutations link a distinct bone-marrow-failure syndrome to DNA repair and mitochondrial function.Differential requirement for the ATPase domain of the Cockayne syndrome group B gene in the processing of UV-induced DNA damage and 8-oxoguanine lesions in human cells.SMARCAL1 and replication stress: an explanation for SIOD?Cockayne syndrome group B cellular and biochemical functions.Manitoba aboriginal kindred with original cerebro-oculo- facio-skeletal syndrome has a mutation in the Cockayne syndrome group B (CSB) gene.Molecular bases of progeroid syndromes.The sequence-specific transcription factor c-Jun targets Cockayne syndrome protein B to regulate transcription and chromatin structure.Testicular nuclear receptor 4 (TR4) regulates UV light-induced responses via Cockayne syndrome B protein-mediated transcription-coupled DNA repairReversal of mitochondrial defects with CSB-dependent serine protease inhibitors in patient cells of the progeroid Cockayne syndromePTEN is a target of chromosome 10q loss in anaplastic oligodendrogliomas and PTEN alterations are associated with poor prognosisDysmyelination not demyelination causes neurological symptoms in preweaned mice in a murine model of Cockayne syndrome.A Chromatin-Focused siRNA Screen for Regulators of p53-Dependent Transcription.Human Cockayne syndrome B protein reciprocally communicates with mitochondrial proteins and promotes transcriptional elongation.Chromatin deregulation in disease.A possible cranio-oro-facial phenotype in Cockayne syndrome.The involvement of DNA-damage and -repair defects in neurological dysfunctionThe role of Cockayne Syndrome group B (CSB) protein in base excision repair and aging.Regulatory interplay of Cockayne syndrome B ATPase and stress-response gene ATF3 following genotoxic stressNucleic acid binding activity of human Cockayne syndrome B protein and identification of Ca(2+) as a novel metal cofactorConservation of domain structure in a fast-evolving heterochromatic SUUR protein in drosophilids.Complete absence of Cockayne syndrome group B gene product gives rise to UV-sensitive syndrome but not Cockayne syndrome.The many faces of Cockayne syndrome.Reduced XPC DNA repair gene mRNA levels in clinically normal parents of xeroderma pigmentosum patients.DNA excision repair at telomeres.UV-induced association of the CSB remodeling protein with chromatin requires ATP-dependent relief of N-terminal autorepression.Cockayne Syndrome group B protein interacts with TRF2 and regulates telomere length and stabilityMinimal ionizing radiation sensitivity in a large cohort of xeroderma pigmentosum fibroblasts.Progressive cerebellar atrophy and polyneuropathy: expanding the spectrum of PNKP mutations.Deletion of 5' sequences of the CSB gene provides insight into the pathophysiology of Cockayne syndrome.Epistatic SNP interaction of ERCC6 with ERCC8 and their joint protein expression contribute to gastric cancer/atrophic gastritis risk.
P2860
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P2860
Molecular analysis of mutations in the CSB (ERCC6) gene in patients with Cockayne syndrome
description
1998 nî lūn-bûn
@nan
1998 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
1998 թվականի հունվարին հրատարակված գիտական հոդված
@hy
1998年の論文
@ja
1998年論文
@yue
1998年論文
@zh-hant
1998年論文
@zh-hk
1998年論文
@zh-mo
1998年論文
@zh-tw
1998年论文
@wuu
name
Molecular analysis of mutation ...... atients with Cockayne syndrome
@ast
Molecular analysis of mutation ...... atients with Cockayne syndrome
@en
Molecular analysis of mutation ...... atients with Cockayne syndrome
@nl
type
label
Molecular analysis of mutation ...... atients with Cockayne syndrome
@ast
Molecular analysis of mutation ...... atients with Cockayne syndrome
@en
Molecular analysis of mutation ...... atients with Cockayne syndrome
@nl
prefLabel
Molecular analysis of mutation ...... atients with Cockayne syndrome
@ast
Molecular analysis of mutation ...... atients with Cockayne syndrome
@en
Molecular analysis of mutation ...... atients with Cockayne syndrome
@nl
P2093
P2860
P3181
P356
P1476
Molecular analysis of mutation ...... atients with Cockayne syndrome
@en
P2093
A J van Gool
A R Lehmann
B Tanganelli
C Troelstra
D L Mallery
H Steingrimsdottir
M Stefanini
P2860
P3181
P356
10.1086/301686
P407
P577
1998-01-01T00:00:00Z