Atypical features in two adult patients with Cockayne syndrome and analysis of genotype-phenotype correlation. [PDF]
Chin Med J (Engl), 2023 Cheng H, Chen D, Wu Z, Wang N.
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LEO1 is a partner for Cockayne syndrome protein B (CSB) in response to transcription-blocking DNA damage [PDF]
Nucleic Acids Research, 2021 Cockayne syndrome (CS) is an autosomal recessive genetic disorder characterized by photosensitivity, developmental defects, neurological abnormalities, and premature aging.
Vinod Tiwari +3 more
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Indian Journal of Dermatology, 2003 Cockayne syndrome is a rare autosomal recessive disease of complex clinical phenotype that usually presents in early childhood. Characteristically the child presents with delayed milestones, growth and mental retardation associated with typical facies, photosensitivity, retinitis pigmentosa, deafness and ataxia.
Sharma Nand Lal +3 more
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TRiC controls transcription resumption after UV damage by regulating Cockayne syndrome protein A [PDF]
Nature Communications, 2018 Transcription-blocking DNA lesions are removed by transcription-coupled nucleotide excision repair (TC-NER) to preserve cell viability. TC-NER is triggered by the stalling of RNA polymerase II at DNA lesions, leading to the recruitment of TC-NER-specific
Yana van der Weegen +2 more
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A mild case of Cockayne syndrome with a novel start-loss variant of ERCC8. [PDF]
Hum Genome VarCockayne syndrome (CS) is a progressive multisystem disorder characterized by growth failure, microcephaly, developmental delay, and photosensitivity. The characteristic symptoms appear during early childhood in most patients with CS. Herein, we report a
Matsuoka T +8 more
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Cockayne syndrome type 3 with dystonia-ataxia and clicking blinks. [PDF]
Mov Disord Clin Pract, 2023 Cockayne Syndrome (CS), a rare autosomal recessive progressive neurodegenerative disease, was fi rst described by Edward Cockayne in 1936. 1 CS is caused by ERCC8 (OMIM# 609412) and ERCC6 (OMIM# 609413) biallelic mutations leading to Cockayne syndrome ...
Gültekin-Zaim ÖB +5 more
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Functional and clinical relevance of novel mutations in a large cohort of patients with Cockayne syndrome [PDF]
Journal of Medical Genetics, 2018 BACKGROUND: Cockayne syndrome (CS) is a rare, autosomal recessive multisystem disorder characterised by prenatal or postnatal growth failure, progressive neurological dysfunction, ocular and skeletal abnormalities and premature ageing.
Botta, Elena +16 more
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Clinical and molecular genetic analysis of a Chinese patient with Cockayne syndrome caused by ERCC8 gene synonymous variant at splicing site and exon 1 deletion. [PDF]
Orphanet J Rare DisBie X +8 more
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Epigenomic signature of accelerated ageing in progeroid Cockayne syndrome. [PDF]
Aging Cell, 2023 Cockayne syndrome (CS) and UV‐sensitive syndrome (UVSS) are rare genetic disorders caused by mutation of the DNA repair and multifunctional CSA or CSB protein, but only CS patients display a progeroid and neurodegenerative phenotype, providing a unique ...
Crochemore C +8 more
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Cockayne syndrome - A Clinical, Radiological, Audiological And Chromosomal Study
Annals of Indian Academy of Neurology, 2004 We report two brothers of Cockayne syndrome (CS) with progressive growth retardation, microcephaly, bird headed facies with sunken eyes, cutaneous photosensitivity, retinits pigmentosa, sensorineural deafness, spasticity ataxia, neuropathy and ...
V V Ashraff +5 more
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