Results 71 to 80 of about 5,906 (214)
Somatic mosaicism for a PDHA1 mutation in a female with pyruvate dehydrogenase deficiency
Human Genetics, 2008 Somatic mosaicism for a mutation in the X-linked PDHA1 gene was found in a girl who presented with manifestations of pyruvate dehydrogenase deficiency. Mutation in the PDHA1 gene was suggested by a mosaic pattern of E1alpha subunit immunostaining; however, initial screening of cDNA and the exons and intron-exon boundaries yielded only normal sequence ...
Ridout, C, Brown, R, Walter, J, Brown, G
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Molecular Genetics & Genomic Medicine, 2021 Background Leigh syndrome, the most common mitochondrial syndrome in pediatrics, has diverse clinical manifestations and is genetically heterogeneous.
Ke Gong +5 more
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Clinical and genetic characterization of intellectual disability
Developmental Medicine &Child Neurology, EarlyView.This study examines the etiological factors and comorbidities in a large cohort of Finnish patients with intellectual disability. Genetic causes—including chromosomal abnormalities and pathogenic gene variants—were more frequently identified in individuals with moderate to profound intellectual disability.
Aarni Venetvaara +14 more
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Molecular Genetics and Metabolism Reports, 2020 Pyruvate dehydrogenase complex (PDHC) deficiencies are a group of mainly infantile onset disorders stemming from defects in pyruvate catabolism. They are characterised by severe lactic acidosis and progressive neurodegeneration.Although the PDHA1 gene is
Surita Meldau +6 more
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Scientific Reports, 2022 Chronic thromboembolic pulmonary hypertension (CTEPH) and pulmonary arterial hypertension (PAH) are two forms of pulmonary hypertension (PH) characterized by obstructive vasculopathy. Endothelial dysfunction along with metabolic changes towards increased
V. F. E. D. Smolders +18 more
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Regulation, genomics, and clinical characteristics of cuproptosis regulators in pan-cancer
Frontiers in Oncology, 2022 BackgroundCuproptosis, a copper-dependent controlled cell death, is a novel form of cell death that differs from known cell death mechanisms; however, its overall regulation in cancer remains elusive.MethodsMultiple open-source bioinformatic platforms ...
Cankun Zhou +3 more
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Differentiation-dependent Requirement of Tsix long non-coding RNA in Imprinted X-chromosome Inactivation [PDF]
, 2014 Imprinted X-inactivation is a paradigm of mammalian transgenerational epigenetic regulation resulting in silencing of genes on the paternally-inherited X-chromosome.
Buttigieg, Emily +8 more
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The Journal of Physiology, EarlyView.Abstract figure legend Sprint interval training (SIT) is a popular time‐efficient type of endurance training. Healthy young men performed nine SIT sessions (4–6 × 30 s all‐out cycling sprints) over 3 weeks while being supplemented with antioxidants (high doses of vitamins C and E) or placebo. Muscle biopsies taken before and after the first SIT session
Victoria L. Wyckelsma +12 more
wiley +1 more source
Development and validation of cuproptosis-related genes in synovitis during osteoarthritis progress
Frontiers in Immunology, 2023 Osteoarthritis (OA) is one of the most common refractory degenerative joint diseases worldwide. Synovitis is believed to drive joint cartilage destruction during OA pathogenesis. Cuproptosis is a novel form of copper-induced cell death.
Bohan Chang +4 more
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106 Diversity of clinical phenotype of patients with pyruvate dehydrogenase deficiency due to PDHA1 gene mutations [PDF]
, 2021 Katarina Šikić +14 more
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