Articles with "heteroplasmy" as a keyword



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Mitochondrial DNA m.13514G>A heteroplasmy is associated with depressive symptoms in the elderly

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Published in 2018 at "International Journal of Geriatric Psychiatry"

DOI: 10.1002/gps.4928

Abstract: Mitochondrial DNA (mtDNA) heteroplasmy is a mixture of normal and mutated mtDNA molecules in a cell. High levels of heteroplasmy at several mtDNA sites in complex I lead to inherited neurological neurologic diseases and brain… read more here.

Keywords: associated depressive; depressive symptoms; symptoms elderly; heteroplasmy ... See more keywords
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Impact of measuring heteroplasmy of a pathogenic mitochondrial DNA variant at the single‐cell level in individuals with mitochondrial disease

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Published in 2022 at "Journal of Inherited Metabolic Disease"

DOI: 10.1002/jimd.12547

Abstract: Pathogenic mitochondrial DNA heteroplasmy has mainly been assessed with bulk sequencing in individuals with mitochondrial disease. However, the distribution of heteroplasmy at the single‐cell level in skin fibroblasts obtained from individuals, together with detailed clinical… read more here.

Keywords: cell level; single cell; heteroplasmy; disease ... See more keywords
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Enhanced Manipulation of Human Mitochondrial DNA Heteroplasmy In Vitro Using Tunable mtZFN Technology.

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Published in 2018 at "Methods in molecular biology"

DOI: 10.1007/978-1-4939-8799-3_4

Abstract: As a platform capable of mtDNA heteroplasmy manipulation, mitochondrially targeted zinc-finger nuclease (mtZFN) technology holds significant potential for the future of mitochondrial genome engineering, in both laboratory and clinic. Recent work highlights the importance of… read more here.

Keywords: mtzfn technology; heteroplasmy; mtzfn; enhanced manipulation ... See more keywords
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Comprehensive Quantification of the Modified Proteome Reveals Oxidative Heart Damage in Mitochondrial Heteroplasmy.

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Published in 2018 at "Cell reports"

DOI: 10.1016/j.celrep.2018.05.080

Abstract: Post-translational modifications hugely increase the functional diversity of proteomes. Recent algorithms based on ultratolerant database searching are forging a path to unbiased analysis of peptide modifications by shotgun mass spectrometry. However, these approaches identify only… read more here.

Keywords: heart; heteroplasmy; quantification modified; comprehensive quantification ... See more keywords
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Detection of mitochondrial DNA variants at low level heteroplasmy in pediatric CNS and extra-CNS solid tumors with three different enrichment methods.

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Published in 2020 at "Mitochondrion"

DOI: 10.1016/j.mito.2020.01.006

Abstract: The mitochondrial genome is small, 16.5kb, and yet complex to study due to an abundance of mitochondria in any given cell or tissue. Mitochondrial DNA (mtDNA) mutations have been previously described in cancer, many of… read more here.

Keywords: enrichment; heteroplasmy; cns; cns extra ... See more keywords
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Ancient hybridization and mtDNA introgression behind current paternal leakage and heteroplasmy in hybrid zones

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Published in 2019 at "Scientific Reports"

DOI: 10.1038/s41598-019-55764-w

Abstract: Hybridization between heterospecific individuals has been documented as playing a direct role in promoting paternal leakage and mitochondrial heteroplasmy in both natural populations and laboratory conditions, by relaxing the egg-sperm recognition mechanisms. Here, we tested… read more here.

Keywords: mtdna introgression; heteroplasmy; paternal leakage;
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Population-specific signatures of intra-individual mitochondrial DNA heteroplasmy and their potential evolutionary advantages

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Published in 2020 at "Scientific Reports"

DOI: 10.1038/s41598-019-56918-6

Abstract: Heteroplasmy is the existence of more than one mitochondrial DNA (mtDNA) variant within a cell. The evolutionary mechanisms of heteroplasmy are not fully understood, despite being a very common phenomenon. Here we combined heteroplasmy measurements… read more here.

Keywords: mitochondrial dna; heteroplasmy; population; population specific ... See more keywords
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Forensic evaluation of mitochondrial DNA heteroplasmy in Gujarat population, India

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Published in 2022 at "Annals of Human Biology"

DOI: 10.1080/03014460.2022.2144447

Abstract: Abstract Background Owing to its high copy number and its small size, mtDNA analysis is the most reliable choice when biological materials from crime scenes are degraded or have mixed STR profiles. Aim To examine… read more here.

Keywords: gujarat population; heteroplasmy; mitochondrial dna; population ... See more keywords

Natural Heteroplasmy and Mitochondrial Inheritance in Bivalve Molluscs.

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Published in 2019 at "Integrative and comparative biology"

DOI: 10.1093/icb/icz061

Abstract: Heteroplasmy is the presence of more than one type of mitochondrial genome within an individual, a condition commonly reported as unfavourable and affecting mitonuclear interactions. So far, no study has investigated heteroplasmy at protein level,… read more here.

Keywords: heteroplasmy mitochondrial; heteroplasmy; inheritance; biology ... See more keywords
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Heteroplasmy and Patterns of Cytonuclear Linkage Disequilibrium in Wild Carrot.

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Published in 2019 at "Integrative and comparative biology"

DOI: 10.1093/icb/icz102

Abstract: Organellar genomes are considered to be strictly uniparentally-inherited. Uniparental inheritance allows for cytonuclear coevolution and the development of highly coordinated cytonuclear interactions. Yet, instances of biparental inheritance have been documented across eukaryotes. Biparental inheritance in… read more here.

Keywords: cytonuclear linkage; heteroplasmy; wild carrot; organellar genomes ... See more keywords
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Quantitative haplotype-resolved analysis of mitochondrial DNA heteroplasmy in Human single oocytes, blastoids, and pluripotent stem cells

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Published in 2023 at "Nucleic Acids Research"

DOI: 10.1093/nar/gkad209

Abstract: Abstract Maternal mitochondria are the sole source of mtDNA for every cell of the offspring. Heteroplasmic mtDNA mutations inherited from the oocyte are a common cause of metabolic diseases and associated with late-onset diseases. However,… read more here.

Keywords: pluripotent stem; analysis; mtdna; single oocytes ... See more keywords