Articles with "mitochondrial mutations" as a keyword



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Mitochondrial Mutations in Multiple Sclerosis Patients with Atypical Optic Neuropathy.

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Published in 2021 at "Multiple sclerosis and related disorders"

DOI: 10.1016/j.msard.2021.103166

Abstract: BACKGROUND Multiple sclerosis-related optic neuritis is mostly associated with good recovery. The aim of this study was to investigate the causes of progressive visual worsening in multiple sclerosis patients despite treatment. METHODS We retrospectively reviewed… read more here.

Keywords: sclerosis; mitochondrial mutations; optic neuritis; multiple sclerosis ... See more keywords
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Mitochondrial mutations alter endurance exercise response and determinants in mice

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Published in 2022 at "Proceedings of the National Academy of Sciences of the United States of America"

DOI: 10.1073/pnas.2200549119

Abstract: Significance Primary mitochondrial diseases (PMDs) are the most prevalent inborn metabolic disorders, affecting an estimated 1 in 4,200 individuals. Endurance exercise is generally known to improve mitochondrial function, but its indication in the heterogeneous group… read more here.

Keywords: mitochondrial mutations; exercise; exercise response; endurance exercise ... See more keywords
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Detecting de novo mitochondrial mutations in angiosperms with highly divergent evolutionary rates.

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Published in 2021 at "Genetics"

DOI: 10.1093/genetics/iyab039

Abstract: Although plant mitochondrial genomes typically show low rates of sequence evolution, levels of divergence in certain angiosperm lineages suggest anomalously high mitochondrial mutation rates. However, de novo mutations have never been directly analyzed in such… read more here.

Keywords: mitochondrial mutation; variant frequencies; mitochondrial mutations; sequence evolution ... See more keywords
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Abstract 228: Recurrent mitochondrial mutations in thyroid cancer

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Published in 2023 at "Cancer Research"

DOI: 10.1158/1538-7445.am2023-228

Abstract: Despite the importance of mitochondrial function on the bioenergetics and metabolism of the cell, understanding the functional impact of somatic mitochondrial mutations has been difficult. Additionally, small cohorts, as used in previous studies, lack the… read more here.

Keywords: mitochondrial mutations; thyroid cancer; cancer; mutations thyroid ... See more keywords
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Tracing of Human Tumor Cell Lineages by Mitochondrial Mutations

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Published in 2020 at "Frontiers in Oncology"

DOI: 10.3389/fonc.2020.523860

Abstract: Background Previous studies have shown the value in studying lineage tracing in slices of human tumors. However, a tumor is not a two-dimensional structure and to better understand how a tumor, and its corresponding metastasis… read more here.

Keywords: cell lineages; mitochondrial mutations; tracing human; human tumor ... See more keywords
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Mitochondrial Mutations and Genetic Factors Determining NAFLD Risk

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Published in 2021 at "International Journal of Molecular Sciences"

DOI: 10.3390/ijms22094459

Abstract: NAFLD (non-alcoholic fatty liver disease) is a widespread liver disease that is often linked with other life-threatening ailments (metabolic syndrome, insulin resistance, diabetes, cardiovascular disease, atherosclerosis, obesity, and others) and canprogress to more severe forms,… read more here.

Keywords: mutations genetic; genetic factors; factors determining; nafld risk ... See more keywords