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Insights Into Cockayne Syndrome Type B: What Underlies Its Pathogenesis?

1 year 4 months ago
Cockayne Syndrome (CS) is an autosomal recessive disorder arising from mutations in either of two disease-associated genes, ERCC6 or ERCC8. CS patients exhibit cutaneous photosensitivity, neuropathological abnormalities, severe growth retardation, a distinctive facial appearance with pronounced sunken eyes, musculoskeletal anomalies, sensory impairment, and dental decay. Approximately 70% of all CS cases carry ERCC6 mutations; therefore, this review will focus solely on Cockayne Syndrome...
Ricardo Afonso-Reis

In Science Journals

1 year 4 months ago
Science, Volume 388, Issue 6753, Page 1286-1288, June 2025.
Michael Funk, and Keith T. Smith, Jake S. Yeston, Bianca Lopez, Phil Szuromi, Melisa Yashinski, Courtney Malo, Leslie K. Ferrarelli, Peter Stern, Jesse Smith, Mattia Maroso, Di Jiang, Corinne Simonti, Priscilla N. Kelly, and Seth Thomas Scanlon

Fool’s gold

1 year 4 months ago
Science, Volume 388, Issue 6753, Page 1245-1245, June 2025.
David Michaels and Wendy Wagner