Results 81 to 90 of about 6,552 (164)
Early adversity and the comorbidity between metabolic disease and psychopathology
The Journal of Physiology, Volume 604, Issue 11, Page 4338-4377, 1 June 2026.Abstract figure legend Hierarchical diagram representing the interplay between the genetic background and early life adversities and its effect on multiple physiological processes that ultimately impact on the risk for the comorbdity between psychopathology and cardiometabolic disorders.
Ameyalli Gómez‐Ilescas +1 more
wiley +1 more source
Health Science Reports, Volume 9, Issue 5, May 2026.ABSTRACT Background Cardiomyopathies encompass a spectrum of myocardial disorders often attributed to underlying genetic mutations. However, genotype–phenotype discordance where the genetic profile does not align with the expected clinical presentation poses significant diagnostic, prognostic, and therapeutic challenges.
Abubakar Nazir +9 more
wiley +1 more source
Pregnancy, Volume 2, Issue 3, May 2026.Abstract Carrier screening for genetic conditions performed preconception or during pregnancy allows identification of fetal risk for inherited autosomal recessive and X‐linked conditions. The goal is to identify at‐risk patients/couples and offer them reproductive options such as preimplantation genetic diagnosis, prenatal testing, or targeted newborn
Emily B. Rosenfeld +5 more
wiley +1 more source
Molecular Therapy: Methods & Clinical Development, 2019 Barth syndrome (BTHS) is a rare mitochondrial disease that causes severe cardiomyopathy and has no disease-modifying therapy. It is caused by recessive mutations in the gene tafazzin (TAZ), which encodes tafazzin—an acyltransferase that remodels the ...
Silveli Suzuki-Hatano +6 more
doaj +1 more source
Phospholipid abnormalities in children with Barth syndrome
Journal of the American College of Cardiology, 2003 We sought to identify characteristic lipid abnormalities in patients with Barth syndrome (BTHS) and to correlate the lipid profile to phenotype and genotype.Barth syndrome typically includes cardiomyopathy, skeletal myopathy, neutropenia, growth retardation, and 3-methylglutaconic aciduria, and it is commonly associated with mutations in the tafazzin ...
Schlame, Michael +8 more
openaire +3 more sources
Emerging roles of pyruvate dehydrogenase phosphatase 1: a key player in metabolic health
Frontiers in PhysiologyPyruvate dehydrogenase phosphatase (PDP), a structurally conserved member of the protein phosphatase C family (PP2C) of proteins, is a key regulatory enzyme responsible for reactivation of the mitochondrial gate-keeper, pyruvate dehydrogenase (PDH ...
Vikalp Kumar, Miriam L. Greenberg
doaj +1 more source
Balkan Journal of Medical Genetics, 2016 Barth syndrome (BTHS) is a rare X-linked disease characterized by dilated cardiomyopathy, proximal skeletal myopathy and cyclic neutropenia. It is caused by various mutations in the tafazzin (TAZ) gene located on Xq28 that results in remodeling of ...
Bakšienė M +5 more
doaj +1 more source
Role of Cardiolipin in Mitochondrial Signaling Pathways
Frontiers in Cell and Developmental Biology, 2017 The phospholipid cardiolipin (CL) is an essential constituent of mitochondrial membranes and plays a role in many mitochondrial processes, including respiration and energy conversion.
Jan Dudek
doaj +1 more source
The B-lymphoblastoid model in Barth syndrome
Biochimica et Biophysica Acta (BBA) - Molecular and Cell Biology of LipidsBarth Syndrome (BTHS) is an ultra-rare, X-linked mitochondrial disorder caused by a variety of different mutations in the cardiolipin remodeling gene TAFAZZIN that results in cardiac and skeletal myopathy, as well as immunological deficits. Epstein-Barr virus-mediated transformation of B-lymphocytes has been used to generate B-lymphoblastoid cells that
John Z, Chan +3 more
openaire +2 more sources