Results 81 to 90 of about 4,495 (156)

Case report: neuroimaging in Cockayne syndrome. [PDF]

Radiol Case Rep
Mittal S, Jain KK, Arora S, Jajodia N.
europepmc   +1 more source

Cockayne syndrome mutation in XPG activate the integrated stress response. [PDF]

Hum Genet
Zhang D, Hartmann M, Cao Z, Zhu G, Najjar G, Günes C, Emmert S, Scharffetter-Kochanek K, Iben S.   +8 more
europepmc   +1 more source

Assessing the Formation of Purine Lesions in Mitochondrial DNA of Cockayne Syndrome Cells. [PDF]

Biomolecules, 2022
Chatgilialoglu C, Krokidis MG, Masi A, Barata-Vallejo S, Ferreri C, Pascucci B, D'Errico M.   +6 more
europepmc   +1 more source

[Cockayne syndrome: peculiarities of clinical manifestations and algorithm of observation in childhood]. [PDF]

Probl Endokrinol (Mosk)
Kungurtseva AL, Popovich AV, Tikhonovich YV, Ivannikova TE, Kovalskaia VA, Vasiliev PA, Vitebskaya AV.   +6 more
europepmc   +1 more source

Cockayne syndrome without UV-sensitivity in Vietnamese siblings with novel ERCC8 variants. [PDF]

Aging (Albany NY), 2022
Duong NT, Dinh TH, Möhl BS, Hintze S, Quynh DH, Ha DTT, Ngoc ND, Dung VC, Miyake N, Hai NV, Matsumoto N, Meinke P.   +11 more
europepmc   +1 more source

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

Aging Cell
Afonso-Reis R, Madeira CR, Brito DVC, Nóbrega C.   +3 more
europepmc   +1 more source

Clinical and molecular genetic analysis of a Chinese patient with Cockayne syndrome caused by ERCC8 gene synonymous variant at splicing site and exon 1 deletion. [PDF]

Orphanet J Rare Dis
Bie X, Liu L, Liu L, Zhang Z, Guo M, Xie Z, Zhang Y, Su J, Li D.   +8 more
europepmc   +1 more source

A rare variation of ERCC8 gene cause Cockayne syndrome in a Chinese family. [PDF]

Front Genet
Ding F, Hou F, Zhao B, Jin H.
europepmc   +1 more source

Role of Cockayne Syndrome Group B Protein in Replication Stress: Implications for Cancer Therapy. [PDF]

Int J Mol Sci, 2022
Walker JR, Zhu XD.
europepmc   +1 more source

Neurovascular dysfunction and neuroinflammation in a Cockayne syndrome mouse model. [PDF]

Aging (Albany NY), 2021
Kajitani GS, Brace L, Trevino-Villarreal JH, Trocha K, MacArthur MR, Vose S, Vargas D, Bronson R, Mitchell SJ, Menck CFM, Mitchell JR.   +10 more
europepmc   +1 more source