061 Premature aging in Cockayne syndrome due to a failure in ribosomal biogenesis?
نویسندگان
چکیده
منابع مشابه
Evidence for premature aging due to oxidative stress in iPSCs from Cockayne syndrome.
Cockayne syndrome (CS) is a human premature aging disorder associated with neurological and developmental abnormalities, caused by mutations mainly in the CS group B gene (ERCC6). At the molecular level, CS is characterized by a deficiency in the transcription-couple DNA repair pathway. To understand the role of this molecular pathway in a pluripotent cell and the impact of CSB mutation during ...
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Mutations in the Cockayne syndrome A (CSA) protein account for 20% of Cockayne syndrome (CS) cases, a childhood disorder of premature aging and early death. Hitherto, CSA has exclusively been described as DNA repair factor of the transcription-coupled branch of nucleotide excision repair. Here we show a novel function of CSA as transcription factor of RNA polymerase I in the nucleolus. Knockdow...
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CS is an autosomal recessive multisystem disorder, which is mainly characterized by neurologic and sensory impairment, cachectic dwarfism, and photosensitivity. We describe the neuroimaging features (MR imaging, ¹H-MR spectroscopy, and CT) in the various clinical subtypes of CS from a cohort of genetically and biochemically proved cases. Hypomyelination, calcifications, and brain atrophy were t...
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Neonatal adrenal hemorrhage is more common than previously suspected.in most cases the diagnosis is made by post-mortem autopsy.however massive hemorrhage is less common.the most important cause is trauma during birth,other contributing factors are:macrosomia,diabetic mothers,breech presentation,congenital syphilis,anoxia,hemorrhagic disease, and prematurity.clinical manifestations of the dise...
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Autoimmune polyglandular syndromes are a rare group of disorders of which Type II is the commonest. Premature ovarian failure is a minor feature of the disorder. The identification of the syndrome may take several years and different medical specialties need to be involved in the diagnosis and management of the case. The present case report describes the difficulties encountered in the diagnosi...
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ژورنال
عنوان ژورنال: Journal of Investigative Dermatology
سال: 2016
ISSN: 0022-202X
DOI: 10.1016/j.jid.2016.06.078