223 A DNA-repair independent pathomechanism in Cockayne syndrome
نویسندگان
چکیده
منابع مشابه
DNA-Repair Capacity in Down\'s Syndrome
Down's syndrome (DS) is the most common chromosomal abnormality in human. Subjects with DS are known to be peridisposed to develop leukemia. The molecular basis of the association between DS and leukemia is unknown. The unscheduled DNA synthesis (UDS) test measure the ability of DNA-repair in mammalian cells after excision of a stretch of DNA containing the region of damage induced by chemical ...
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A Novel DNA Repair Disorder With Thrombocytopenia, Nephrosis, and Features Overlapping Cockayne Syndrome Elizabeth Forsythe, Ruth Wild, Gabrielle Sellick, Richard S. Houlston, Alan R. Lehmann, and Emma Wakeling* Kennedy Galton Centre, North West Thames Regional Genetics Service, The North West London Hospitals NHS Trust, Middlesex, United Kingdom Section of Cancer Genetics, Institute of Cancer ...
متن کاملCockayne syndrome: defective repair of transcription?
In the past years, it has become increasingly evident that basal metabolic processes within the cell are intimately linked and influenced by one another. One such link that recently has attracted much attention is the close interplay between nucleotide excision DNA repair and transcription. This is illustrated both by the preferential repair of the transcribed strand of active genes (a phenomen...
متن کاملPoly(ADP-ribosyl)ation accelerates DNA repair in a pathway dependent on Cockayne syndrome B protein.
Activation of poly(ADP-ribose)polymerases 1 and 2 (PARP-1 and PARP-2) is one of the earliest responses of mammalian cells to DNA damage by numerous genotoxic agents. We have analysed the influence of PARP inhibition, either achieved by over-expression of the DNA binding domain of PARP-1 or by treatment with 3,4-dihydro-5-[4-(1-piperidinyl)butoxyl]-1(2H)-isoquinolinone, on the repair of single-s...
متن کاملA novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome.
We report on four siblings with Cockayne-like syndrome with thrombocytopenia and nephrotic syndrome. The parents were healthy and consanguineous, consistent with an autosomal recessive mode of disease inheritance. UV irradiation of fibroblasts revealed an intermediate sensitivity between normal and standard Cockayne syndrome (CS) control cells. A genome-wide linkage scan conducted using Affymet...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2017
ISSN: 0022-202X
DOI: 10.1016/j.jid.2017.07.220