A subset of human dermal fibroblasts overexpressing Cockayne syndrome group B protein resist UVB radiation‐mediated premature senescence [PDF]
Aging Cell, Volume 24, Issue 3, March 2025.A pre‐existing subpopulation of human dermal fibroblasts (HDFs) overexpressing Cockayne syndrome group B (CSB) protein resist ultraviolet B (UVB) radiation‐induced premature senescence and coexist in mixed cultures with UVB‐induced senescent HDFs. UVB‐resistant HDFs remain normal and form a distinct population in‐between young and senescent cells ...
Asimina Fotopoulou +4 more
wiley +2 more sources
Cockayne syndrome type: a very rare association with hemorrhagic stroke [PDF]
The Turkish Journal of Pediatrics, 2021 Background. Cockayne Syndrome (CS) is a rare autosomal recessive disorder that is mainly characterized by neurodevelopmental delay, cutaneous photosensitivity, and cachectic dwarfism.
Başak Atalay +2 more
doaj +2 more sources
A matter of delicate balance: Loss and gain of Cockayne syndrome proteins in premature aging and cancer [PDF]
Frontiers in Aging, 2022 DNA repair genes are critical for preserving genomic stability and it is well established that mutations in DNA repair genes give rise to progeroid diseases due to perturbations in different DNA metabolic activities.
Elena Paccosi +2 more
doaj +2 more sources
Hepatic Failure following Metronidazole in Children with Cockayne Syndrome [PDF]
Case Reports in Pediatrics, 2020 Cockayne syndrome is an uncommon autosomal recessive disease characterized by microcephaly, abnormal growth, and pathologic premature aging. The purpose of this report is to evaluate liver failure in children with Cockayne syndrome following ...
Pedram Ataee +2 more
doaj +2 more sources
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 ...
Sharma Nand Lal +3 more
doaj +3 more sources
Cockayne syndrome B protein is implicated in transcription and associated chromatin dynamics in homeostatic and genotoxic conditions [PDF]
Aging Cell, Volume 24, Issue 1, January 2025.Early after exposure to UV, RNAPII is released from promoter‐proximal pause sites to elongation in both normal and CS‐B fibroblasts. However, RNAPII progression speed is slower in CS‐B compared to normal fibroblasts. Additionally, UV‐exposed CS‐B cells are characterized by increased retention of nascent RNA transcripts and elongating RNAPII molecules ...
Anastasios Liakos +10 more
wiley +2 more sources
Genetic Diagnosis of Cockayne Syndrome [PDF]
Pediatric Neurology Briefs, 2020 Researchers from the University of Strasbourg investigated whether defective transcription of ATF3 responsive genes is a marker for Cockayne Syndrome (CS).
Patel R.
openaire +5 more sources
Cockayne Syndrome Linked to Elevated R-Loops Induced by Stalled RNA Polymerase II during Transcription Elongation [PDF]
Nature CommunicationsMutations in the Cockayne Syndrome group B (CSB) gene cause cancer in mice, but premature aging and severe neurodevelopmental defects in humans.
Xuan Zhang +8 more
doaj +2 more sources
Pharmacological Bypass of Cockayne Syndrome B Function in Neuronal Differentiation [PDF]
Cell Reports, 2016 Cockayne syndrome (CS) is a severe neurodevelopmental disorder characterized by growth abnormalities, premature aging, and photosensitivity. Mutation of Cockayne syndrome B (CSB) affects neuronal gene expression and differentiation, so we attempted to ...
Yuming Wang +6 more
doaj +3 more sources
A stable XPG protein is required for proper ribosome biogenesis: Insights on the phenotype of combinate Xeroderma Pigmentosum/Cockayne Syndrome patients. [PDF]
PLoS ONE, 2022 Nucleotide Excision Repair is one of the five DNA repair systems. More than 30 proteins are involved in this process, including the seven XP proteins. When mutated, the genes coding for these proteins are provoking the rare disease Xeroderma Pigmentosum,
Florent Taupelet +4 more
doaj +2 more sources