Articles with "whole mitochondrial" as a keyword



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Whole‐mitochondrial genomes of Nannizziopsis provide insights in evolution and detection

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Published in 2023 at "Ecology and Evolution"

DOI: 10.1002/ece3.9955

Abstract: Abstract Infectious fungal diseases can have devastating effects on wildlife health and a detailed understanding of the evolution of related emerging fungal pathogen along with the ability to detect them in the wild is considered… read more here.

Keywords: whole mitochondrial; genomes nannizziopsis; nannizziopsis provide; mitochondrial genomes ... See more keywords
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Whole mitochondrial genome analysis in South Indian patients with Leber's hereditary optic neuropathy.

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Published in 2017 at "Mitochondrion"

DOI: 10.1016/j.mito.2016.10.006

Abstract: Leber's hereditary optic neuropathy (LHON) is a mitochondrial DNA (mtDNA) associated neurodegenerative disorder of retinal ganglion cells. In this study, whole mitochondrial genome sequencing of 75 LHON patients and 40 controls was performed to identify… read more here.

Keywords: whole mitochondrial; south indian; hereditary optic; mitochondrial genome ... See more keywords
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Evaluating the suitability of current mitochondrial DNA interpretation guidelines for multigenerational whole mitochondrial genome comparisons

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Published in 2022 at "Journal of Forensic Sciences"

DOI: 10.1111/1556-4029.15097

Abstract: Sanger sequencing of the mitochondrial DNA (mtDNA) control region was previously the only method available for forensic casework involving degraded samples from skeletal remains. The introduction of Next Generation Sequencing (NGS) has transformed genetic data… read more here.

Keywords: whole mitochondrial; multigenerational whole; mitochondrial dna; interpretation ... See more keywords
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Next-generation sequencing of the whole mitochondrial genome identifies functionally deleterious mutations in patients with multiple sclerosis

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Published in 2022 at "PLoS ONE"

DOI: 10.1371/journal.pone.0263606

Abstract: Multiple sclerosis (MS) is an immune-mediated disease of the central nervous system with genetics and environmental determinants. Studies focused on the neurogenetics of MS showed that mitochondrial DNA (mtDNA) mutations that can ultimately lead to… read more here.

Keywords: whole mitochondrial; mtdna; gene; mitochondrial genome ... See more keywords
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Human whole mitochondrial genome sequencing and analysis: optimization of the experimental workflow

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Published in 2022 at "Croatian Medical Journal"

DOI: 10.3325/cmj.2022.63.224

Abstract: Aim To evaluate critical steps in Illumina® Human mtDNA Genome assay: target enrichment, limited-cycle PCR, and library normalization, in order to optimize the protocol for analysis of whole mitochondrial genomes from human reference samples. Methods… read more here.

Keywords: whole mitochondrial; genome; analysis; normalization ... See more keywords
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Whole Mitochondrial Genome Detection and Analysis of Two- to Four-Generation Maternal Pedigrees Using a New Massively Parallel Sequencing Panel

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Published in 2023 at "Genes"

DOI: 10.3390/genes14040912

Abstract: Mitochondrial DNA (mtDNA) is an effective genetic marker in forensic practice, especially for aged bones and hair shafts. Detection of the whole mitochondrial genome (mtGenome) using traditional Sanger-type sequencing is laborious and time-consuming. Additionally, its… read more here.

Keywords: whole mitochondrial; generation; detection; massively parallel ... See more keywords
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Whole Mitochondrial Genome Analysis in Turkish Patients With Mitochondrial Diseases.

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Published in 2021 at "Balkan medical journal"

DOI: 10.5152/balkanmedj.2021.21141

Abstract: BACKGROUND Mitochondrial diseases are a clinically heterogeneous group of rare hereditary disorders that are defined by a genetic defect predominantly affecting mitochondrial oxidative phosphorylation. Mitochondrial diseases are caused by mutations of genes encoded by either… read more here.

Keywords: dna; mitochondrial diseases; class; mitochondrial dna ... See more keywords
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Whole mitochondrial genome sequencing of Malaysian patients with cardiomyopathy

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Published in 2022 at "PeerJ"

DOI: 10.7717/peerj.13265

Abstract: Cardiomyopathy (CMP) constitutes a diverse group of myocardium diseases affecting the pumping ability of the heart. Genetic predisposition is among the major factors affecting the development of CMP. Globally, there are over 100 genes in… read more here.

Keywords: whole mitochondrial; genome sequencing; cmp patients; cmp ... See more keywords