Cockayne syndrome: the expanding clinical and mutational spectrum.
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Mechanisms of interstrand DNA crosslink repair and human disordersCSB-PGBD3 Mutations Cause Premature Ovarian FailureIdentification of two missense mutations of ERCC6 in three Chinese sisters with Cockayne syndrome by whole exome sequencingHow Research on Human Progeroid and Antigeroid Syndromes Can Contribute to the Longevity Dividend InitiativeA novel ERCC6 splicing variant associated with a mild Cockayne syndrome phenotypeCSB interacts with SNM1A and promotes DNA interstrand crosslink processingElements That Regulate the DNA Damage Response of Proteins Defective in Cockayne SyndromeThe Nucleotide Excision Repair Pathway Limits L1 RetrotranspositionCellular sensitivity to UV-irradiation is mediated by RNA polymerase I transcription.Neuroradiologic patterns and novel imaging findings in Aicardi-Goutières syndromeThe Cockayne Syndrome Natural History (CoSyNH) study: clinical findings in 102 individuals and recommendations for care.Yeast RAD2, a homolog of human XPG, plays a key role in the regulation of the cell cycle and actin dynamics.Gearing up chromatin: A role for chromatin remodeling during the transcriptional restart upon DNA damageTwo novel mutations in ERCC6 cause Cockayne syndrome B in a Chinese family.Cockayne syndrome: Clinical features, model systems and pathways.Uncommon nucleotide excision repair phenotypes revealed by targeted high-throughput sequencing.Tracking the Cognitive, Social, and Neuroanatomical Profile in Early Neurodegeneration: Type III Cockayne Syndrome.A Drosophila XPD model links cell cycle coordination with neuro-development and suggests links to cancer.Ageing: Dietary protection for genes.Cockayne syndrome: a diffusion tensor imaging and volumetric study.FGFR2 mutations in bent bone dysplasia syndrome activate nucleolar stress and perturb cell fate determination.ERCC4 variants identified in a cohort of patients with segmental progeroid syndromes.Deep intronic variation in splicing regulatory element of the ERCC8 gene associated with severe but long-term survival Cockayne syndrome.TRiC controls transcription resumption after UV damage by regulating Cockayne syndrome protein A.Identification of one Novel complex delins mutation and one recurrent mutation of ERCC8 gene in a Chinese family with Cockayne Syndrome A.Insights into the role of somatic mosaicism in the brain.Ultraviolet radiation: DNA damage, repair, and human disordersNovel frame shift mutation in ERCC6 leads to a severe form of Cockayne syndrome with postnatal growth failure and early death: A case report and brief literature reviewERCC6 dysfunction presenting as progressive neurological decline with brain hypomyelinationFirst molecular study in Lebanese patients with Cockayne syndrome and report of a novel mutation in ERCC8 gene
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P2860
Cockayne syndrome: the expanding clinical and mutational spectrum.
description
article científic
@ca
article scientifique
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articol științific
@ro
articolo scientifico
@it
artigo científico
@gl
artigo científico
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artigo científico
@pt-br
artikel ilmiah
@id
artikull shkencor
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artículo científico
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name
Cockayne syndrome: the expanding clinical and mutational spectrum.
@en
type
label
Cockayne syndrome: the expanding clinical and mutational spectrum.
@en
prefLabel
Cockayne syndrome: the expanding clinical and mutational spectrum.
@en
P1476
Cockayne syndrome: the expanding clinical and mutational spectrum.
@en
P2093
Vincent Laugel
P304
P356
10.1016/J.MAD.2013.02.006
P577
2013-02-18T00:00:00Z