نتایج جستجو برای: heteroplasmy
تعداد نتایج: 700 فیلتر نتایج به سال:
Mammalian cells contain thousands of copies of mitochondrial DNA (mtDNA). At birth, these are thought to be identical in most humans. Here, we use long read length ultra-deep resequencing-by-synthesis to interrogate regions of the mtDNA genome from related and unrelated individuals at unprecedented resolution. We show that very low-level heteroplasmic variance is present in all tested healthy i...
To the Editor We read with interest the article by Tashiro et al. about a 49-year-old man carrying the m.3243A>G mutation, which manifested as hypertrophic cardiomyopathy, intellectual decline, basal-ganglia-calcification, cerebellar atrophy, elevated cerebrospinal fluid (CSF)-lactate, exophoria, and diabetes (1). We have several comments and concerns regarding this study. The previously unrepo...
Abstract The mitochondrial DNA m.3243A > G mutation is well-known to cause a variety of clinical phenotypes, including diabetes, deafness, and osteoporosis. Here, we report isolation expansion urine-derived stem cells (USCs) from patients carrying the mutation, which demonstrate bimodal heteroplasmy. USCs with high levels displayed abnormal morphology function, as well elevated ATF5-dependen...
Background: Mitochondrial DNA (mtDNA) variants have been implicated in keratoconus (KC). The present study aimed to characterize the mtDNA heteroplasmy profile KC and explore association of mitochondrial heteroplasmic levels with KC. Methods: sequencing peripheral blood samples corneal tomography were conducted 300 cases matched controls. number homoplasmic was calculated across genome. Spearma...
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