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Mitochondrial DNA (mtDNA) encodes essential machinery for respiration and metabolic homeostasis but is paradoxically among the most common targets of somatic mutations in the cancer genome, with truncating mutations in complex I genes being over-represented1 . While mtDNA mutations have been associ...
ORGANISM(S): Mus musculus (Mouse) 
2023-11-08 | PXD044987 | Pride
Alzheimer’s disease is the most common form of dementia, and its prevalence increases exponentially with age. The patients affected gradually lose cognitive function, control over their sense of orientation, their emotions, and other aspects of behavior. Thirty-five million people are now considered...
ORGANISM(S): Homo Sapiens (ncbitaxon:9606) 
2017-04-27 | MSV000081021 | MassIVE
We report a highly-penetrant form of obesity, initially observed in 31 heterozygous carriers of a 593kb or larger deletion at 16p11.2 from amongst subjects ascertained for cognitive deficits. Nineteen similar deletions were identified from GWAS data in 16053 individuals from 8 European cohorts; such...
ORGANISM(S): Homo sapiens 
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