Results 81 to 90 of about 10,371 (225)
Defective transcription-coupled repair in Cockayne syndrome B mice is associated with skin cancer predisposition. [PDF]
, 1997 A mouse model for the nucleotide excision repair disorder Cockayne syndrome (CS) was generated by mimicking a truncation in the CSB(ERCC6) gene of a CS-B patient.
Beems, R.B. (Rudolf) +11 more
core +1 more source
Paediatric Hypotrichosis: A Clinical and Algorithmic Approach to Diagnosis
Australasian Journal of Dermatology, Volume 66, Issue 3, Page e109-e119, May 2025.ABSTRACT Paediatric hypotrichosis is the clinical feature of paucity of hair arising congenitally or in early life with the presentation being that of the child whose hair is growing insufficiently. It is a hallmark finding of a diverse group of genodermatoses and sporadic disorders, presenting as either an isolated symptom or in association with ...
Neda So, Leona Yip, David Orchard
wiley +1 more source
Photocarcinogenesis of the skin: Current status and future trends
The Kaohsiung Journal of Medical Sciences, Volume 41, Issue 4, April 2025.Abstract Solar radiation is essential for life on Earth but is also a major contributor to skin carcinogenesis. Solar radiation, particularly ultraviolet (UV) B (280–320 nm) and UVA (320–400 nm), induces photocarcinogenesis via various pathways. UV light can directly cause DNA damage, resulting in genetic mutations if not repaired correctly.
Ting‐Ting Yang, Cheng‐Che E. Lan
wiley +1 more source
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 Hernandez-Herrera +4 more
doaj +1 more source
The Ercc1−/Δ mouse model of XFE progeroid syndrome undergoes accelerated retinal degeneration
Aging Cell, Volume 24, Issue 3, March 2025.Spontaneous endogenous DNA damage drives key hallmarks of age‐related retinal degeneration, including visual impairment, photoreceptor cell loss, dysmorphic RPE, mitochondrial dysfunction, and cellular senescence. Therefore, Ercc1−/Δ mice represent a valuable model for further mechanistic studies on age‐related retinal degeneration and for rapid ...
Akilavalli Narasimhan +14 more
wiley +1 more source
Rat Model of Cockayne Syndrome Neurological Disease
Cell Reports, 2019 Summary: Cockayne syndrome (CS) is a rare genetic neurodevelopmental disorder, characterized by a deficiency in transcription-coupled subpathway of nucleotide excision DNA repair (TC-NER).
Yingying Xu +4 more
doaj
Calling the shots: the Old English remedy Gif hors ofscoten sie and Anglo-Saxon "Elf-Shot" [PDF]
, 2005 No abstract ...
Hall, Alaric
core +1 more source
Expanded carrier screening: A current perspective [PDF]
, 2018 Prenatal carrier screening has expanded to include a large number of genes offered to all couples considering pregnancy or with an ongoing pregnancy.
Al-Kouatly, Hb +12 more
core +1 more source
Molecular Genetics &Genomic Medicine, Volume 13, Issue 2, February 2025.This study reports a novel case of trichothiodystrophy (TTD) linked to compound heterozygous ERCC2 variants, presenting with progressive cerebral hypomyelination. The findings highlight a rare association between ERCC2 mutations and hypomyelinating leukodystrophy, expanding the current understanding of TTD‐related neurodevelopmental disorders. ABSTRACT
Ali Reza Tavasoli +8 more
wiley +1 more source
European Journal of Cell Biology, 2023 Mutations in CSA and CSB proteins cause Cockayne syndrome, a rare genetic neurodevelopment disorder. Alongside their demonstrated roles in DNA repair and transcription, these two proteins have recently been discovered to regulate cytokinesis, the final ...
Elena Paccosi +7 more
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