نتایج جستجو برای: cockayne syndrome
تعداد نتایج: 621994 فیلتر نتایج به سال:
Kindler syndrome is a rare autosomal recessive disorder associated with skin fragility. It is characterized by blistering in infancy, photosensitivity and progressive poikiloderma. The syndrome involves the skin and mucous membrane with radiological changes. The genetic defect has been identified on the short arm of chromosome 20. This report describes an 18-year-old patient with classical feat...
The hereditary disease Cockayne syndrome (CS) is a complex clinical syndrome characterized by arrested post-natal growth as well as neurological and other defects. The CSA and CSB genes are implicated in this disease. The clinical features of CS can also accompany the excision repair-defective hereditary disorder xeroderma pigmentosum (XP) from genetic complementation groups B, D or G. The XPB ...
The Cockayne syndrome B (CSB) protein is essential for transcription-coupled DNA repair (TCR), which is dependent on RNA polymerase II elongation. TCR is required to quickly remove the cytotoxic transcription-blocking DNA lesions. Functional GFP-tagged CSB, expressed at physiological levels, was homogeneously dispersed throughout the nucleoplasm in addition to bright nuclear foci and nucleolar ...
Cockayne's Syndrome (CS) is a rare autosomal recessive disorder characterized by deficiency in the transcription-couple DNA repair pathway caused by mutations in the genes ERCC6 in 65% of individuals and ERCC8 in 35% of individuals. Here we report a rare case of Cockayne's syndrome in a girl who presented with hallmark features specific to the syndrome. Dissemination of our knowledge about clin...
KEY CLINICAL MESSAGE Cockayne syndrome (CS) is a rare autosomal recessive genetic disease characterized by growth failure and progressive neurological degeneration. Here we report a mild form of CS patient who was homozygous for the C526T transition resulting in a new nonsense mutation, which converts Arg176 to a stop codon.
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