Results 41 to 50 of about 2,256,617 (260)
Role of Cockayne Syndrome Group B Protein in Replication Stress: Implications for Cancer Therapy. [PDF]
Int J Mol Sci, 2022 A variety of endogenous and exogenous insults are capable of impeding replication fork progression, leading to replication stress. Several SNF2 fork remodelers have been shown to play critical roles in resolving this replication stress, utilizing ...
Walker JR, Zhu XD.
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Heterogeneous clinical features in Cockayne syndrome patients and siblings carrying the same CSA mutations. [PDF]
Orphanet J Rare Dis, 2022 Background Cockayne syndrome (CS) is a rare autosomal recessive disorder caused by mutations in ERCC6/CSB or ERCC8/CSA that participate in the transcription-coupled nucleotide excision repair (TC-NER) of UV-induced DNA damage. CS patients display a large
Chikhaoui A +12 more
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Cockayne syndrome group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation [PDF]
Nucleic Acids Research, 2021 CSA and CSB proteins are key players in transcription-coupled nucleotide excision repair (TC-NER) pathway that removes UV-induced DNA lesions from the transcribed strands of expressed genes. Additionally, CS proteins play relevant but still elusive roles
Manuela Lanzafame +12 more
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Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B [PDF]
Genes, 2021 Cockayne syndrome (CS) is a rare disease caused by mutations in ERCC6/CSB or ERCC8/CSA. We report here the clinical, genetic, and functional analyses of three unrelated patients mutated in ERCC6/CSB with a severe phenotype.
Khouloud Zayoud +13 more
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bioRxiv, 2023 Cockayne syndrome is a rare hereditary autosomal recessive disorder characterized by diverse neurological afflictions. However, little is known about the cerebral development in CS patients.
Leon-Phillip Szepanowski +6 more
semanticscholar +1 more source
Definitions, 2020 Cockayne syndrome is a rare disorder characterized by an abnormally small head size (microcephaly), a failure to gain weight and grow at the expected rate (failure to thrive) leading to very short stature, and delayed development.
K. Weidenheim, P. J. Brooks
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Neurovascular dysfunction and neuroinflammation in a Cockayne syndrome mouse model. [PDF]
Aging (Albany NY), 2021 Cockayne syndrome (CS) is a rare, autosomal genetic disorder characterized by premature aging-like features, such as cachectic dwarfism, retinal atrophy, and progressive neurodegeneration.
Kajitani GS +10 more
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A case of Cockayne syndrome with unusually mild clinical manifestations
Journal of dermatology (Print), 2023 We present a mild case of Cockayne syndrome that was referred to us with an extreme sunburn at the age of 3. In early teens, although her cutaneous symptoms alleviated without any medications, she developed tremor and dysarthria. Neurological examination
Mariko Tsujimoto +6 more
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American Journal of Roentgenology, 1972 Cockayne’s syndrome is a specific roentgenologic entity as well as a specific clinical entity, the radiologist being able to first suggest the diagnosis.The earliest roentgen findings, usually becoming noticeable during the 2nd and 3rd years of life, are microcephaly, posterior tapering of thoracic vertebral bodies, and steepening of the iliac angle in
W, Riggs, J, Seibert
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Xeroderma pigmentosum-Cockayne syndrome complex. [PDF]
Indian J Med Res, 2020 Dev N, Aggarwal P.
europepmc +3 more sources