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   Articles with "mutation load" as a keyword



Preimplantation genetic diagnosis for a carrier with m.3697G > A mitochondrial DNA mutation

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recommendations! 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
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A high mutation load of m.14597A>G in MT-ND6 causes Leigh syndrome

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recommendations! Published in 2021 at "Scientific Reports"

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
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Digital Polymerase Chain Reaction for Assessment of Mutant Mitochondrial Carry-over after Nuclear Transfer for In Vitro Fertilization.

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recommendations! 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

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recommendations! 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

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recommendations! 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

Genomic Evidence for the Purging of Deleterious Genetic Variation in the Endangered North Atlantic Right Whale

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recommendations! Published in 2024 at "Evolutionary Applications"

DOI: 10.1111/eva.70055

Abstract: The reduced genetic diversity and frequent inbreeding associated with small population size may underpin the accumulation and expression of deleterious mutations (mutation load) in some declining populations. However, demographic perturbations and inbreeding coupled with purifying… read more here.

Keywords: endangered north; deleterious genetic; population; mutation load ... See more keywords

Epidermal mutation accumulation in photodamaged skin is associated with skin cancer burden and can be targeted through ablative therapy

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recommendations! 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

Exploring Droplet Digtial PCR Detection of MYD88L265P mutation Burden for the Evaluation of Efficacy in Patients with WM : A Convenient and Accurate Supplementary Approach to IMWG-11 Criteria

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recommendations! Published in 2024 at "Blood"

DOI: 10.1182/blood-2024-202497

Abstract: Introduction Serum IgM concentration is a critical factor in assessing the effectiveness of Waldenstrom's macroglobulinemia (WM) treatment and currently serves as the standard for evaluating the burden of WM. IWWM-11 was tasked with evaluating a… read more here.

Keywords: myd88l265p mutation; mutation load; mutation; burden ... See more keywords
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Comprehensive genomic analysis with immunological parameters to obtain the biomarkers for immune checkpoint inhibitors (ICIs) in non-small cell lung cancer (NSCLC).

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recommendations! 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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recommendations! Published in 2017 at "PLoS Medicine"

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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recommendations! Published in 2017 at "PLoS ONE"

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