نتایج جستجو برای: cockayne syndrome

تعداد نتایج: 621994  

Journal: :Japanese Journal of Oral & Maxillofacial Surgery 1986

Journal: :Proceedings of the National Academy of Sciences 2004

Journal: :Nucleic acids research 2016
Robert J Lake Erica L Boetefuer Kyoung-Jae Won Hua-Ying Fan

Cockayne syndrome is a premature aging disease associated with numerous developmental and neurological abnormalities, and elevated levels of reactive oxygen species have been found in cells derived from Cockayne syndrome patients. The majority of Cockayne syndrome cases contain mutations in the ATP-dependent chromatin remodeler CSB; however, how CSB protects cells from oxidative stress remains ...

2011
Tawhida Y Abdel Ghaffar Ezzat S Elsobky Solaf M Elsayed

BACKGROUND Cockayne syndrome is a rare autosomal recessive neurodegenerative disease characterized by low-to-normal birth weight; growth failure; brain dysmyelination with calcium deposits, cutaneous photosensitivity; pigmentary retinopathy, cataract, and sensorineural hearing loss. To the best of our knowledge, cholestatic liver disease was not previously reported in these patients. AIM To h...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2015
Leizhen Wei Satoshi Nakajima Stefanie Böhm Kara A Bernstein Zhiyuan Shen Michael Tsang Arthur S Levine Li Lan

Damage repair mechanisms at transcriptionally active sites during the G0/G1 phase are largely unknown. To elucidate these mechanisms, we introduced genome site-specific oxidative DNA damage and determined the role of transcription in repair factor assembly. We find that KU and NBS1 are recruited to damage sites independent of transcription. However, assembly of RPA1, RAD51C, RAD51, and RAD52 at...

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