A novel DNA repair disorder with thrombocytopenia, nephrosis and features overlapping Cockayne syndrome
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چکیده
منابع مشابه
NEW SYNDROME A Novel DNA Repair Disorder With Thrombocytopenia, Nephrosis, and Features Overlapping Cockayne Syndrome
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 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...
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 کاملAre parents of children with Cockayne syndrome manifesting features of the disorder?
RATIONALE Postnatal growth failure and progressive neurologic dysfunction and increasing multiorgan involvement are the main clinical features of Cockayne syndrome (CS). CS is a rare autosomal recessive disorder of the group of DNA repair diseases. Usually, genetic carriers, such as parents of patients, are not at risk for developing the disease. PATIENT CONCERNS A series of 14 family subject...
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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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ژورنال
عنوان ژورنال: American Journal of Medical Genetics Part A
سال: 2009
ISSN: 1552-4825,1552-4833
DOI: 10.1002/ajmg.a.32995