Cockayne Syndrome

Cockayne syndrome is a rare multisystem autosomal recessive disorder characterized by severe photosensitive genodermatosis that is associated with premature aging caused by defects in the UV-induced DNA damage repair system. Follow the latest research with this feed.

February 17, 2021
Open Access

Current and emerging roles of Cockayne syndrome group B (CSB) protein.

Nucleic Acids Research
Vinod TiwariVilhelm A Bohr
February 5, 2021
Open Access

Diagnostic and severity scores for Cockayne syndrome.

Orphanet Journal of Rare Diseases
M A SpitzVincent Laugel
February 5, 2021
Open Access

Genetic etiologic analysis in 74 Chinese Han women with idiopathic premature ovarian insufficiency by combined molecular genetic testing.

Journal of Assisted Reproduction and Genetics
Jiandong ShenFeiyang Diao
January 7, 2021
Open Access

Short-term NAD+ supplementation prevents hearing loss in mouse models of Cockayne syndrome

Npj Aging and Mechanisms of Disease
Mustafa N OkurVilhelm A Bohr
December 15, 2020

ERCC1 mutations impede DNA damage repair and cause liver and kidney dysfunction in patients

The Journal of Experimental Medicine
Katja ApeltMartijn S Luijsterburg
December 8, 2020
Comment / Editorial
Open Access

Genetic Diagnosis of Cockayne Syndrome

Pediatric Neurology Briefs
Rifali Patel
December 6, 2020
Open Access

Integrative genomic analysis implicates ERCC6 and its interaction with ERCC8 in susceptibility to breast cancer

Scientific Reports
Roxana MoslehiAmiran Dzutsev
November 25, 2020

Transcription blockage by DNA damage in nucleotide excision repair-related neurological dysfunctions

Seminars in Cell & Developmental Biology
Gustavo Satoru KajitaniCarlos Frederico Martins Menck
November 24, 2020

Growth charts in Cockayne syndrome type 1 and type 2

European Journal of Medical Genetics
Sarah BaerVincent Laugel
November 22, 2020
Case Report

COFS type 3 in an Indian family with antenatally detected arthrogryposis.

American Journal of Medical Genetics. Part a
Inusha PanigrahiJasvinder Kalra
November 18, 2020

The Cockayne syndrome group A and B proteins are part of a ubiquitin-proteasome degradation complex regulating cell division

Proceedings of the National Academy of Sciences of the United States of America
Elena PaccosiLuca Proietti-De-Santis
November 10, 2020
Open Access

Cockayne syndrome proteins CSA and CSB maintain mitochondrial homeostasis through NAD+ signaling

Aging Cell
Mustafa N OkurVilhelm A Bohr
October 7, 2020
Open Access

A C. elegans model for neurodegeneration in Cockayne syndrome

Nucleic Acids Research
Amanda F C LopesBjörn Schumacher
September 30, 2020

Cockayne syndrome B protein acts as an ATP-dependent processivity factor that helps RNA polymerase II overcome nucleosome barriers

Proceedings of the National Academy of Sciences of the United States of America
Jun XuDong Wang
September 18, 2020
Open Access

Adult diagnosis of Cockayne syndrome


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