Results 131 to 140 of about 10,371 (225)

Thermoconditional modulation of the pleiotropic sensitivity phenotype by the Saccharomyces cerevisiae PRP19 mutant allele pso4-1 [PDF]

, 2002
The conditionally-lethal pso4-1 mutant allele of the spliceosomal-associated PRP19 gene allowed us to study this gene’s influence on pre-mRNA processing, DNA repair and sporulation.
Bonatto, Diego, Brendel, Martin (Prof. Dr.), Cardone, Jacqueline Moraes, Feldmann, H., Grey, Martin, Henriques, Joao A. P., Revers, L. F, Saffi, Jenifer   +7 more
core  

A Case of ERCC6-Related Cockayne Syndrome Presenting with Levodopa-Responsive Tremor Syndrome. [PDF]

Mov Disord Clin Pract, 2023
Salari M, Rezaei K, Asadi S, Etemadifar M.   +3 more
europepmc   +1 more source

The Cockayne Syndrome Group B Gene Product Is Involved in Cellular Repair of 8-Hydroxyadenine in DNA [PDF]

, 2002
Jingsheng Tuo, Paweł Jaruga, Henry Rodriguez, Miral Dizdaroğlu, Vilhelm A. Bohr   +4 more
openalex   +1 more source

Cockayne Syndrome: The many challenges and approaches to understand a multifaceted disease

Genetics and Molecular Biology
The striking and complex phenotype of Cockayne syndrome (CS) patients combines progeria-like features with developmental deficits. Since the establishment of the in vitro culture of skin fibroblasts derived from patients with CS in the 1970s, significant
Alexandre Teixeira Vessoni, Camila Chaves Coelho Guerra, Gustavo Satoru Kajitani, Livia Luz Souza Nascimento, Camila Carrião Machado Garcia   +4 more
doaj   +1 more source

Differential requirement for the ATPase domain of the Cockayne syndrome group B gene in the processing of UV-induced DNA damage and 8-oxoguanine lesions in human cells [PDF]

, 2002
Rebecca R. Selzer
openalex   +1 more source

Photosensitivity Skin Disorders in Childhood [PDF]

, 2010
Photosensitivity in childhood is caused by a diverse group of diseases. A specific sensitivity of a child’s skin to ultraviolet light is often the first manifestation or a clinical symptom of photodermatosis.
Ines Sjerobabski-Masnec, Lena Kotrulja, Mirna Šitum, Sanja Poduje, Suzana Ožanić-Bulić   +4 more
core   +1 more source

Epigenomic signature of accelerated ageing in progeroid Cockayne syndrome. [PDF]

Aging Cell, 2023
Crochemore C, Chica C, Garagnani P, Lattanzi G, Horvath S, Sarasin A, Franceschi C, Bacalini MG, Ricchetti M.   +8 more
europepmc   +1 more source

Cockayne syndrome : Report of a case.

, 1986
Yoshihiro Sunaga, Kenji Era, Yoshihiro KIMIHIRA, Kazuo Yasukawa, Hajime Shibata, Takashi YANAI, Nobuo Yoshizawa   +6 more
openalex   +2 more sources

Recognition of RNA Polymerase II and Transcription Bubbles by XPG, CSB, and TFIIH: Insights for Transcription-Coupled Repair and Cockayne Syndrome [PDF]

, 2005
Altaf H. Sarker, Susan E. Tsutakawa, Seth A. Kostek, Cliff Ng, David Shin, Marian Peris, Eric Campeau, John A. Tainer, Eva Nogales, Priscilla K. Cooper   +9 more
openalex   +1 more source

Siblings with Cockayne Syndrome B Type III Presenting with Slowly Progressive Cerebellar Ataxia. [PDF]

Intern Med, 2023
Takahashi N, Mishima T, Fujioka S, Izumi K, Ando M, Higuchi Y, Takashima H, Tsuboi Y.   +7 more
europepmc   +1 more source