Results 181 to 190 of about 10,371 (225)

Spectrum of ERCC6-Related Cockayne Syndrome (Type B): From Mild to Severe Forms. [PDF]

Genes (Basel)
Sartorelli J, Travaglini L, Macchiaiolo M, Garone G, Gonfiantini MV, Vecchio D, Sinibaldi L, Frascarelli F, Ceccatelli V, Petrillo S, Piemonte F, Piccolo G, Novelli A, Longo D, Pro S, D'Amico A, Bertini ES, Nicita F.   +17 more
europepmc   +1 more source

A Cockayne-Syndrome-Like Phenotype with a Homozygous Truncating UVSSA Variant: Might This Be a New Cause? [PDF]

Mol Syndromol
Bahap Y, Kayhan G.
europepmc   +1 more source

Cockayne syndrome: case report and review. [PDF]

MedUNAB, 2007
Beatríz Blandón, Juan Carlos Serrano
doaj  

Cockayne Syndrome B protein antagonizes OGG1 in modulating CAG repeat length in vivo

, 2011
Irina V. Kovtun, Kurt O. Johnson, Cynthia T. McMurray   +2 more
openalex   +1 more source

Biallelic structural variants in three patients with ERCC8-related Cockayne syndrome and a potential pitfall of copy number variation analysis. [PDF]

Sci Rep
Watanabe D, Okamoto N, Kobayashi Y, Suzuki H, Kato M, Saitoh S, Kanemura Y, Takenouchi T, Yamada M, Nakato D, Sato M, Tsunoda T, Kosaki K, Miya F.   +13 more
europepmc   +1 more source

KIAA1530 Protein Is Recruited by Cockayne Syndrome Complementation Group Protein A (CSA) to Participate in Transcription-coupled Repair (TCR)

, 2012
Jia Fei, Junjie Chen
openalex   +1 more source

Cockayne syndrome-xeroderma pigmentosum complex with demyelination: A rare association

, 2012
UshaRani Singh, PrasanthKumar Kommu, Shujaath Asif, Philomina D′Souza   +3 more
openalex   +2 more sources

Interaction between the Cockayne syndrome B and p53 proteins: implications for aging

, 2012
Mattia Frontini, Luca Proietti‐De‐Santis   +1 more
openalex   +1 more source

A C. elegans model for neurodegeneration in Cockayne syndrome. [PDF]

Nucleic Acids Res, 2020
Lopes AFC, Bozek K, Herholz M, Trifunovic A, Rieckher M, Schumacher B.   +5 more
europepmc   +1 more source

The rem Mutations in the ATP-Binding Groove of the Rad3/XPD Helicase Lead to Xeroderma pigmentosum-Cockayne Syndrome-Like Phenotypes

, 2014
Emilia Herrera‐Moyano, María Moriel‐Carretero, Beth A. Montelone, Andrés Aguilera   +3 more
openalex   +2 more sources