Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene
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چکیده
منابع مشابه
Germline DNA copy number variation in individuals with Argyrophilic grain disease reveals CTNS as a plausible candidate gene
Argyrophilic grain disease (AGD) is a progressive neurodegenerative disease of the human brain that has never been associated to a particular gene locus. In the present study, we report the results of a CNV investigation in 29 individuals whose anatomopathologic investigation of the brain showed AGD. Rare CNVs were identified in six patients (21%), in particular a 40 kb deletion at 17p13.2 enco...
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Background: Based on the studies, variation in the mitochondrial DNA (mtDNA) copy number in peripheral blood leukocytes is associated with increased susceptibility to diseases including cancer. Opiate abusers are at high risk for diseases. In this study, we measured the mtDNA copy number in peripheral blood leukocytes in a group of opiate abusers compared with those in healthy individuals. Met...
متن کاملArgyrophilic grain disease.
Argyrophilic grain disease (AGD) is a common sporadic neurodegenerative disease of old age characterized by the presence of argyrophilic grains (AGs)--dendritic-derived appendages as revealed with the Golgi method--together with pre-tangle neurons in the limbic system, which accounts for about 5% of all demented cases. AGs and pre-tangle neurons contain hyperphosphorylated 4R tau. This is assoc...
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PHACE syndrome is the association of large segmental facial hemangiomas and congenital anomalies, such as posterior fossa malformations, cerebral arterial anomalies, coarctation of the aorta, eye anomalies, and sternal defects. To date, the reported cases of PHACE syndrome have been sporadic, suggesting that PHACE may have a complex pathogenesis. We report here genomic copy number variation (CN...
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OBJECTIVES The rapid fatality of pancreatic cancer is, in large part, the result of diagnosis at an advanced stage in the majority of patients. Identification of individuals at risk of developing pancreatic adenocarcinoma would be useful to improve the prognosis of this disease. There is presently no biological or genetic indicator allowing the detection of patients at risk. Our main goal was t...
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ژورنال
عنوان ژورنال: Genetics and Molecular Biology
سال: 2013
ISSN: 1415-4757
DOI: 10.1590/s1415-47572013000400006