A matter of delicate balance: Loss and gain of Cockayne syndrome proteins in premature aging and cancer. [PDF]
Front 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.
Paccosi E +2 more
europepmc +3 more sources
Whole-exome sequencing revealed a novel ERCC6 variant in a Vietnamese patient with Cockayne syndrome. [PDF]
Hum Genome Var, 2022 We describe a case of Cockayne syndrome without photosensitivity in a Vietnamese family. This lack of photosensitivity prevented the establishment of a confirmed medical clinical diagnosis for 16 years.
Duong NT +6 more
europepmc +3 more sources
ATP-Dependent Chromatin Remodeler CSB Couples DNA Repair Pathways to Transcription with Implications for Cockayne Syndrome and Cancer Therapy. [PDF]
CellsEfficient DNA lesion repair is crucial for cell survival, especially within actively transcribed DNA regions that contain essential genetic information.
Bilkis R, Lake RJ, Fan HY.
europepmc +3 more sources
Cockayne Syndrome Linked to Elevated R-Loops Induced by Stalled RNA Polymerase II during Transcription Elongation. [PDF]
Nat CommunMutations in the Cockayne Syndrome group B (CSB) gene cause cancer in mice, but premature aging and severe neurodevelopmental defects in humans.
Zhang X +8 more
europepmc +3 more sources
Current and emerging roles of Cockayne syndrome group B (CSB) protein [PDF]
Nucleic Acids Research, 2021 Cockayne syndrome (CS) is a segmental premature aging syndrome caused primarily by defects in the CSA or CSB genes. In addition to premature aging, CS patients typically exhibit microcephaly, progressive mental and sensorial retardation and cutaneous ...
Vinod Tiwari +2 more
exaly +3 more sources
Pseudopapilledema in Cockayne syndrome. [PDF]
Am J Ophthalmol Case Rep, 2021 Purpose: This report describes pseudopapilledema in two siblings with Cockayne syndrome and examines a structural mechanism for its development. Observations: Two siblings with genetically documented Cockayne syndrome, enophthalmos, and hyperopia were ...
Brodsky MC, Renaud DL.
europepmc +2 more sources
431 Evaluating defective Transcription Coupled-Nucleotide Excision Repair as a mechanism for sensorineural hearing loss in a zebrafish model of Cockayne Syndrome [PDF]
Journal of Clinical and Translational Science, 2023 OBJECTIVES/GOALS: The characterization of the zebrafish as an animal model for Cockayne Syndrome may guide us towards role of Transcription-Coupled Nucleotide Excision Repair (TC-NER) defects in sensorineural hearing loss.
Gabriel A. Hernandez-Herrera +4 more
openalex +3 more sources
Cockayne Syndrome Protein B Interacts with and Is Phosphorylated by c-Abl Tyrosine Kinase [PDF]
, 2011 The Cockayne Syndrome group B (CSB) protein plays important roles in transcription, transcription-coupled nucleotide excision repair and base excision DNA repair.
Bohr, Vilhelm A. +6 more
core +3 more sources
Clinical and genetic analysis of <i>ERCC8</i>-Related cockayne syndrome: hepatic dysfunction as a biomarker, anhidrosis as a rare feature, and rehabilitation outcomes for ankle contractures. [PDF]
Front GenetObjectivesCockayne syndrome (CS), a rare hereditary neurodegenerative disorder caused by pathogenic variants in ERCC6 (CSB) and ERCC8 (CSA), often clinically overlaps with cerebral palsy (CP), leading to misdiagnosis.
Chen J +8 more
europepmc +2 more sources