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   Articles with "mtdna" as a keyword



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Changes in genetic diversity and differentiation in Red‐cockaded woodpeckers (Dryobates borealis) over the past century

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recommendations! Published in 2019 at "Ecology and Evolution"

DOI: 10.1002/ece3.5135

Abstract: Abstract Red‐cockaded woodpeckers (RCW; Dryobates borealis) declined after human activities reduced their fire‐maintained pine ecosystem to read more here.

Keywords: dryobates borealis; mtdna; cockaded woodpeckers; genetic diversity ... See more keywords
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Mitochondrial DNA: Epigenetics and environment

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recommendations! Published in 2019 at "Environmental and Molecular Mutagenesis"

DOI: 10.1002/em.22319

Abstract: Maintenance of the mitochondrial genome is essential for proper cellular function. For this purpose, mitochondrial DNA (mtDNA) needs to be faithfully replicated, transcribed, translated, and repaired in the face of constant onslaught from endogenous and… read more here.

Keywords: epigenetics environment; methylation; mtdna; dna ... See more keywords
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Design of a digital‐PCR assay to quantify fragmented human mitochondrial DNA

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recommendations! Published in 2021 at "Environmental and Molecular Mutagenesis"

DOI: 10.1002/em.22449

Abstract: Digital PCR (dPCR) has been adapted to quantify the proportion of mitochondrial DNA (mtDNA) molecules without and with double‐strand DNA breaks (DSBs). This is based on a break‐apart approach of two differentially labeled target sequences… read more here.

Keywords: molecule; mtdna; dna; digital pcr ... See more keywords
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Double Trouble from POLG1 and CLCN1 Variants with Intrafamilial Phenotypic Heterogeneity

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recommendations! Published in 2020 at "Movement Disorders Clinical Practice"

DOI: 10.1002/mdc3.12962

Abstract: I read with interest the article by Pauly and colleagues about a family in which the father carried the variants c.844T>G in POLG1 and c.937G>A in CLCN1. The POLG1 variant manifested with ptosis, ophthalmoparesis, parkinsonism,… read more here.

Keywords: mtdna; clcn1; clcn1 variant; polg1 variant ... See more keywords
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Kearns‐Sayre syndrome case. Novel 5,9 kb mtDNA deletion

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recommendations! Published in 2022 at "Molecular Genetics & Genomic Medicine"

DOI: 10.1002/mgg3.2059

Abstract: Kearns‐Sayre syndrome (KSS) is a rare multisystem mitochondrial disorder characterized by onset before 20 years of age and a typical clinical triad: progressive external ophthalmoplegia, pigmentary retinopathy and cardiac conduction anomalies. In most cases KSS is… read more here.

Keywords: sayre syndrome; mtdna deletion; kearns sayre; mtdna ... See more keywords
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Profiling of mitochondrial heteroplasmy in single human oocytes by next‐generation sequencing

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recommendations! Published in 2022 at "Molecular Reproduction and Development"

DOI: 10.1002/mrd.23655

Abstract: Mitochondrial DNA (mtDNA) plays a crucial role in the development of a competent oocyte. Indeed, mtDNA alterations may predispose to chromosome nondisjunction, resulting in infertility due to a reduced vitality and quality of oocytes and… read more here.

Keywords: human oocytes; single human; mtdna; next generation ... See more keywords
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Accurate quantitation of circulating cell-free mitochondrial DNA in plasma by droplet digital PCR

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recommendations! Published in 2017 at "Analytical and Bioanalytical Chemistry"

DOI: 10.1007/s00216-017-0217-x

Abstract: AbstractTo establish a method for accurate quantitation of circulating cell-free mitochondrial DNA (ccf-mtDNA) in plasma by droplet digital PCR (ddPCR), we designed a ddPCR method to determine the copy number of ccf-mtDNA by amplifying mitochondrial… read more here.

Keywords: plasma; ccf mtdna; cell free; mtdna ... See more keywords
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The influence of mitochondrial dynamics on mitochondrial genome stability

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recommendations! Published in 2017 at "Current Genetics"

DOI: 10.1007/s00294-017-0717-4

Abstract: Mitochondria are dynamic organelles that fuse and divide. These changes alter the number and distribution of mitochondrial structures throughout the cell in response to developmental and metabolic cues. We have demonstrated that mitochondrial fission is… read more here.

Keywords: mtdna; dynamics mitochondrial; carbon sources; mitochondrial dynamics ... See more keywords
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Sporadic chronic progressive external ophthalmoplegia with single large mitochondrial DNA deletion and neurogenic findings

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recommendations! Published in 2017 at "Journal of Neurology"

DOI: 10.1007/s00415-017-8409-z

Abstract: The sporadic occurrence of a mitochondrial disease, including chronic progressive external ophthalmoplegia (CPEO), Kearns–Sayre syndrome (KSS, MIM 530000), and in infancy, Pearson syndrome (MIM 557000) may suggest the presence of a single, sporadic mitochondrial DNA… read more here.

Keywords: chronic progressive; ophthalmoplegia; dna; mtdna ... See more keywords
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Mitochondrial DNA Heteroplasmy as an Informational Reservoir Dynamically Linked to Metabolic and Immunological Processes Associated with COVID-19 Neurological Disorders

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recommendations! Published in 2021 at "Cellular and Molecular Neurobiology"

DOI: 10.1007/s10571-021-01117-z

Abstract: Mitochondrial DNA (mtDNA) heteroplasmy is the dynamically determined co-expression of wild type (WT) inherited polymorphisms and collective time-dependent somatic mutations within individual mtDNA genomes. The temporal expression and distribution of cell-specific and tissue-specific mtDNA heteroplasmy… read more here.

Keywords: mtdna; immunological processes; covid neurological; mitochondrial dna ... See more keywords
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Plasma mtDNA Analysis Aids in Predicting Pancreatic Necrosis in Acute Pancreatitis Patients: A Pilot Study

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recommendations! Published in 2018 at "Digestive Diseases and Sciences"

DOI: 10.1007/s10620-018-5227-9

Abstract: BackgroundSpecific plasma biomarkers in predicting pancreatic necrosis (PNec) are needed in treating acute pancreatitis (AP).AimsTo investigate the prognostic value of plasma mitochondrial DNA fragments (mtDNA) in patient with AP for PNec.MethodsAP patients with symptoms onset… read more here.

Keywords: pancreatic necrosis; mtdna; plasma mtdna; predicting pancreatic ... See more keywords