Preimplantation genetic diagnosis for a carrier with m.3697G > A mitochondrial DNA mutation
Sign Up to like & getrecommendations! Published in 2021 at "Journal of Assisted Reproduction and Genetics"
DOI: 10.1007/s10815-021-02354-3
Abstract: To explore inheritance of the m.3697G > A mitochondrial DNA (mtDNA) mutation and the effectiveness of preimplantation genetic diagnosis (PGD) for the carrier. The study encompassed a pedigree of m.3697G > A mtDNA mutation, including one asymptomatic patient who… read more here.
Keywords: mutation load; preimplantation genetic; 3697g mitochondrial; mitochondrial dna ... See more keywords
A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome
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DOI: 10.1038/s41598-021-90196-5
Abstract: Leigh syndrome (LS) is an early-onset progressive neurodegenerative disorder associated with mitochondrial deficiency. m.14597A>G (p.Ile26Thr) in the MT-ND6 gene was reported to cause Leberʼs hereditary optic neuropathy (LHON) or dementia/dysarthria. In previous reports, less than… read more here.
Keywords: high mutation; leigh syndrome; load 14597a; mutation load ... See more keywords
Digital Polymerase Chain Reaction for Assessment of Mutant Mitochondrial Carry-over after Nuclear Transfer for In Vitro Fertilization.
Sign Up to like & getrecommendations! Published in 2021 at "Clinical chemistry"
DOI: 10.1093/clinchem/hvab021
Abstract: BACKGROUND The quantification of mitochondrial DNA heteroplasmy for the diagnosis of mitochondrial disease or after mitochondrial donation, is performed mainly using next-generation sequencing strategies (NGS). Digital PCR (dPCR) has the potential to offer an accurate… read more here.
Keywords: mutation load; chain reaction; polymerase chain; digital polymerase ... See more keywords
Parental care results in a greater mutation load, for which it is also a phenotypic antidote
Sign Up to like & getrecommendations! Published in 2023 at "Proceedings of the Royal Society B: Biological Sciences"
DOI: 10.1098/rspb.2023.0115
Abstract: Benevolent social behaviours, such as parental care, are thought to enable mildly deleterious mutations to persist. We tested this prediction experimentally using the burying beetle Nicrophorus vespilloides, an insect with biparental care. For 20 generations,… read more here.
Keywords: greater mutation; mutation load; care; parental care ... See more keywords
Conservation management strategy impacts inbreeding and mutation load in scimitar-horned oryx
Sign Up to like & getrecommendations! Published in 2023 at "Proceedings of the National Academy of Sciences of the United States of America"
DOI: 10.1101/2022.06.19.496717
Abstract: In an age of habitat loss and overexploitation, small populations, both captive and wild, are increasingly facing the effects of isolation and inbreeding. Genetic management has therefore become a vital tool for ensuring population viability.… read more here.
Keywords: inbreeding mutation; management; mutation load; scimitar horned ... See more keywords
Epidermal mutation accumulation in photodamaged skin is associated with skin cancer burden and can be targeted through ablative therapy
Sign Up to like & getrecommendations! Published in 2023 at "Science Advances"
DOI: 10.1126/sciadv.adf2384
Abstract: The main carcinogen for keratinocyte skin cancers (KCs) such as basal and squamous cell carcinomas is ultraviolet (UV) radiation. There is growing evidence that accumulation of mutations and clonal expansion play a key role in… read more here.
Keywords: mutation load; accumulation; epidermal mutation; mutation ... See more keywords
Comprehensive genomic analysis with immunological parameters to obtain the biomarkers for immune checkpoint inhibitors (ICIs) in non-small cell lung cancer (NSCLC).
Sign Up to like & getrecommendations! Published in 2017 at "Journal of Clinical Oncology"
DOI: 10.1200/jco.2017.35.7_suppl.107
Abstract: 107Background: Several kinds of predictors of ICIs efficacy in NSCLC have been analyzed. PD-L1 expression of tumor, frequency of tumor infiltrating lymphocytes (TIL) and microsatellite instability are cited as potential predictors of treatment efficacy of… read more here.
Keywords: immunological parameters; comprehensive genomic; mutation load; analysis immunological ... See more keywords
Contribution of systemic and somatic factors to clinical response and resistance to PD-L1 blockade in urothelial cancer: An exploratory multi-omic analysis
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DOI: 10.1371/journal.pmed.1002309
Abstract: Background Inhibition of programmed death-ligand 1 (PD-L1) with atezolizumab can induce durable clinical benefit (DCB) in patients with metastatic urothelial cancers, including complete remissions in patients with chemotherapy refractory disease. Although mutation load and PD-L1… read more here.
Keywords: response; mutation load; peripheral blood; load ... See more keywords
Whole exome sequencing for determination of tumor mutation load in liquid biopsy from advanced cancer patients
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DOI: 10.1371/journal.pone.0188174
Abstract: Tumor mutation load (TML) has been proposed as a biomarker of patient response to immunotherapy in several studies. TML is usually determined by tumor biopsy DNA (tDNA) whole exome sequencing (WES), therefore TML evaluation is… read more here.
Keywords: mutation load; biopsy; tumor mutation; tumor ... See more keywords
Mitochondrial diabetes and mitochondrial DNA mutation load in MELAS syndrome.
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DOI: 10.1530/eje-20-0189
Abstract: Objective Mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome is a very rare condition; it encompasses a diverse group of disorders including diabetes. Phenotypic variability can be attributed to heteroplasmy along with varying… read more here.
Keywords: melas syndrome; mutation load; load; mitochondrial diabetes ... See more keywords
Fusion of Wild-Type Mesoangioblasts with Myotubes of mtDNA Mutation Carriers Leads to a Proportional Reduction in mtDNA Mutation Load
Sign Up to like & getrecommendations! Published in 2023 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms24032679
Abstract: In 25% of patients with mitochondrial myopathies, pathogenic mitochondrial DNA (mtDNA) mutation are the cause. For heteroplasmic mtDNA mutations, symptoms manifest when the mutation load exceeds a tissue-specific threshold. Therefore, lowering the mutation load is… read more here.
Keywords: mutation load; mtdna mutation; type mesoangioblasts; mutation ... See more keywords