Associated Papers
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Plos Genetics, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Clinical and genetic analysis of ERCC8-Related cockayne syndrome: hepatic dysfunction as a biomarker, anhidrosis as a rare feature, and rehabilitation outcomes for ankle contractures.
Chen J et al.
Frontiers in Genetics, 2025
Genetic disease risks of under-represented founder populations in New York City.
Isshiki M et al.
Medrxiv : the Preprint Server for Health Sciences, 2024
Senescence, regulators of alternative splicing and effects of trametinib treatment in progeroid syndromes.
Bramwell LR et al.
Geroscience, 2024
Pathogenic variants in human DNA damage repair genes mostly arose after the latest human out-of-Africa migration.
He J et al.
Frontiers in Genetics, 2024
Single-strand mismatch and damage patterns revealed by single-molecule DNA sequencing.
Liu MH et al.
Biorxiv : the Preprint Server for Biology, 2023
Distinct landscapes of deleterious variants in DNA damage repair system in ethnic human populations.
Qin Z et al.
Life Science Alliance, 2022
Pathogenic variant-based preconception carrier screening in the Israeli Jewish population.
Davidov B et al.
Clinical Genetics, 2022
Identification and Characterization of a Novel Recurrent ERCC6 Variant in Patients with a Severe Form of Cockayne Syndrome B.
Zayoud K et al.
Genes, 2021
Cockayne syndrome group A and ferrochelatase finely tune ribosomal gene transcription and its response to UV irradiation.
Lanzafame M et al.
Nucleic Acids Research, 2021
Molecular spectrum of excision repair cross-complementation group 8 gene defects in Chinese patients with Cockayne syndrome type A.
Wang X et al.
Scientific Reports, 2017
The population genetics of human disease: The case of recessive, lethal mutations.
Amorim CEG et al.
Plos Genetics, 2017
Two Novel Heterozygous Mutations in ERCC8 Cause Cockayne Syndrome in a Chinese Patient.
Cui YP et al.
Pediatric Neurology, 2015
Disease variants in genomes of 44 centenarians.
Freudenberg-Hua Y et al.
Molecular Genetics & Genomic Medicine, 2014
Mutation update for the CSB/ERCC6 and CSA/ERCC8 genes involved in Cockayne syndrome.
Laugel V et al.
Human Mutation, 2010
A UV-sensitive syndrome patient with a specific CSA mutation reveals separable roles for CSA in response to UV and oxidative DNA damage.
Nardo T et al.
Proceedings of the National Academy of Sciences of the United States of America, 2009
The current evidence for defective repair of oxidatively damaged DNA in Cockayne syndrome.
Frosina G
Free Radical Biology & Medicine, 2007
A novel splice site mutation in the Cockayne syndrome group A gene in two siblings with Cockayne syndrome.
Kleppa L et al.
Neuroscience, 2007
Cockayne syndrome type A: novel mutations in eight typical patients.
Bertola DR et al.
Journal of Human Genetics, 2006
Characterisation of novel mutations in Cockayne syndrome type A and xeroderma pigmentosum group C subjects.
Ridley AJ et al.
Journal of Human Genetics, 2005
CKN1 (MIM 216400): mutations in Cockayne syndrome type A and a new common polymorphism.
Cao H et al.
Journal of Human Genetics, 2004
The role of Cockayne syndrome group A (CSA) protein in transcription-coupled nucleotide excision repair.
Saijo M
Mechanisms of Ageing and Development, 0
Clinical and Mutation Spectra of Cockayne Syndrome in India.
Narayanan DL et al.
Neurology India, 0