Results 21 to 30 of about 5,286 (150)
PLoS ONE, 2023 Breast cancer is the commonest malignancy in women and the majority occurs sporadically with no hereditary predisposition. However, sporadic breast cancer has been studied less intensively than the hereditary form and to date hardly any predictive ...
Lakshika P. Jayasekera +7 more
doaj +2 more sources
Anti-AQP4–IgG-positive Leigh syndrome: A case report and review of the literature
Frontiers in Pediatrics, 2023 BackgroundLeigh syndrome (LS; OMIM: 256000) is a progressive neurodegenerative disease caused by genetic mutations resulting in mitochondrial oxidative phosphorylation defects. The prognosis is poor, with most children dying before the age of 2 years. MT-
Jun Chen +16 more
doaj +1 more source
Expanding the clinical phenotypes of MT-ATP6 mutations [PDF]
Human Molecular Genetics, 2014 Mitochondrial DNA mutations at MT-ATP6 gene are relatively common in individuals suffering from striatal necrosis syndromes. These patients usually do not show apparent histochemical and/or biochemical signs of oxidative phosphorylation dysfunction. Because of this, MT-ATP6 is not typically analyzed in many other mitochondrial disorders that have not ...
López-Gallardo, Ester +12 more
openaire +4 more sources
Stem Cell Research, 2022 We used a non-integrative self-replicating RNA vector to establish four iPSC lines: two iPSC lines from a young male carrying the mutation m.9185 T>C in the mitochondrial gene MT-ATP6 (present at virtual homoplasmic level), and two iPSC lines from his ...
Tabea Steiner +7 more
doaj +1 more source
Stem Cell Research, 2022 We report the generation of four human iPSC lines (8993-A12, 8993-B12, 8993-C11, and 8993-D7) from fibroblasts of four patients affected by maternally inherited Leigh syndrome (MILS) carrying homoplasmic mutations m.8993T > G or m.8993T > C in the ...
Carmen Lorenz +9 more
doaj +1 more source
The mutational analysis of mitochondrial DNA in maternal inheritance of polycystic ovarian syndrome
Frontiers in Endocrinology, 2023 IntroductionPolycystic Ovarian Syndrome (PCOS) is a globally prevalent condition that leads to infertility in women. While environmental factors contribute to PCOS, maternal genetics also play a significant role.
Shaheen Bibi +10 more
doaj +1 more source
Genotype‐phenotype analysis of MT‐ATP6 ‐associated Leigh syndrome
Acta Neurologica Scandinavica, 2021 Mitochondrial DNA (mtDNA)-associated Leigh syndrome (LS) is characterized by maternal inheritance, and the heteroplasmic mutant load of mtDNA pathogenic variants is known to affect clinical phenotypes. Among mtDNA pathogenic variants, variants of the MT-ATP6 gene account for most of reported cases.
Ji‐Hoon Na, Young‐Mock Lee
openaire +3 more sources
Validation of qPCR reference genes in lymphocytes from patients with amyotrophic lateral sclerosis. [PDF]
PLoS ONE, 2017 Quantitative polymerase chain reaction (qPCR) is the most specific and reliable method for determination of mRNA gene expression. Crucial point for its accurate normalization is the choice of appropriate internal control genes (ICGs). In the present work
Ewa Usarek +4 more
doaj +1 more source
Homoplasmic deleterious MT-ATP6/8 mutations in adult patients
Mitochondrion, 2020 To address the frequency of complex V defects, we systematically sequenced MT-ATP6/8 genes in 512 consecutive patients. We performed functional analysis in muscle or fibroblasts for 12 out of 27 putative homoplasmic mutations and in cybrids for four. Fibroblasts, muscle and cybrids with known deleterious mutations underwent parallel analysis.
Rucheton, Benoit +9 more
openaire +3 more sources
Ecotoxicology and Environmental Safety, 2022 There has been extensive research on antibiotics exposure in adults by biomonitoring, but the biological mechanisms and potential risks to human health remain limited.
Jing Zhang +10 more
doaj +1 more source