نتایج جستجو برای: cockayne syndrome

تعداد نتایج: 621994  

Journal: :American Journal of Neuroradiology 2010

Journal: :Mutation research 1979
M H Wade E H Chu

The cytotoxic action of physical and chemical agents on 10 skin fibroblast strains in culture derived from individuals with Cockayne's syndrome was measured in terms of colony-forming ability. As compared to fibroblasts from normal donors, all Cockayne cell strains tested exhibited a significantly increased sensitivity to UV light and a normal sensitivity to X-rays. Cells from two sets of paren...

Journal: :Proceedings of the National Academy of Sciences of the United States of America 2014
James E Cleaver Angela M Brennan-Minnella Raymond A Swanson Ka-wing Fong Junjie Chen Kai-ming Chou Yih-wen Chen Ingrid Revet Vladimir Bezrookove

Cockayne syndrome (CS) is a human DNA repair-deficient disease that involves transcription coupled repair (TCR), in which three gene products, Cockayne syndrome A (CSA), Cockayne syndrome B (CSB), and ultraviolet stimulated scaffold protein A (UVSSA) cooperate in relieving RNA polymerase II arrest at damaged sites to permit repair of the template strand. Mutation of any of these three genes res...

Journal: :American Journal of Ophthalmology Case Reports 2021

Journal: :Oral Science International 2008

Journal: :genetics in the 3rd millennium 0
فاطمه هادی پور fatemeh hadipour medical genetics department, sarem women’s hospital. tehran, iran یوسف شفقتی yousof shafeghati 1- medical genetics department, sarem women’s hospital. tehran, iran 2-genetics research center, university of welfare science and rehabilitation, tehran. iran زهرا هادی پور zahra hadipour medical genetics department, sarem women’s hospital. tehran, iran مهرداد نوروزی نیا mehrdad noruzinia medical genetics department, sarem women’s hospital. tehran, iran.department of medical genetics, school of medical sciences, tarbiat modares university, tehran, iran فرخنده بهجتی farkhondeh behjati genetics research center, university of welfare science and rehabilitation, tehran. iran

cockayne syndrome is a very rare genetic disorder with a recessive autosomal mode of inheritance characterized by dwarfism, microcephaly, mental retardation, deafness, photosensive dermatitis and a peculiar form of retinal pigmentation. we report an iranian family with one affected child who suffers from cockayne syndrome. cardinal features are failure to thrive, short stature, premature aging,...

Journal: :Orphanet Journal of Rare Diseases 2017

Journal: :Jornal de Pediatria 1995

Journal: :Pediatric Neurology Briefs 2020

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