Results 231 to 240 of about 140,542 (289)
ABSTRACT Arrhythmias affect approximately half of patients with Costello syndrome (CS, OMIM # 218040), with non‐reentrant atrial tachycardia being the most common. This case describes an infant with Costello syndrome carrying the pathogenic HRAS c.34G>A (p.G12S) variant who developed early‐onset, drug‐refractory multifocal atrial tachycardia (MAT ...
Vanina Taliercio +11 more
wiley +1 more source
Revising NHE‐1: From Cardiac Homeostasis to Heart Failure and Future Drug Development
ABSTRACT NHE‐1 is a Na+/H+ exchanger that receives phosphorylation signals, binds calmodulin and responds to neurohormonal input from angiotensin II, endothelin‐1, and adrenergic pathways. In cardiac myocytes, NHE‐1 maintains pH homeostasis and couples to Na+/Ca2+ exchange and mitochondrial ion handling. During heart disease sustained activation drives
Vasileios Bouratzis +8 more
wiley +1 more source
Mitochondria is the hub of apoptosis in various diseases. The disruption of mitochondrial structure (including membrane rupture, cristae remodeling, and mitochondrial membrane lipid redistribution), the imbalance of mitochondrial dynamics (including fusion and fission, autophagy), the release, disruption, and mutation of mitochondria DNA, as well as ...
Rubin Tan +9 more
wiley +1 more source
Review of Congenital Myasthenic Syndrome Caused by Pathogenic Variants in GFPT1
ABSTRACT Glutamine:fructose‐6‐phosphate transaminase 1 (GFPT1) catalyzes the first and rate‐limiting step of the hexosamine biosynthetic pathway (HBP) to generate UDP‐GlcNAc. GFPT1 exon 9 is specifically spliced in in striated muscles, which makes a long isoform of GFPT1 (GFPT1‐L).
Kinji Ohno +5 more
wiley +1 more source
Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy
ABSTRACT Myofiber regeneration and membrane repair play crucial roles in maintaining the continuous physiological functioning of the neuromuscular system. A swift and efficient repair mechanism enables the rapid restoration of sarcolemmal integrity following cellular impairment in damaged skeletal muscles.
Paul Dowling +6 more
wiley +1 more source
ABSTRACT Green tea kombucha is an antioxidant‐rich beverage with promising health benefits. However, evidence regarding its effects in physically active individuals remains limited. This study investigated the acute and chronic effects of green tea kombucha, with or without grape skin extract, on immune and oxidative stress markers in beginner runners.
Dandara Baia Bonifácio +7 more
wiley +1 more source
Findings from this study suggest that aging is accompanied by altered skeletal muscle mitochondrial redox regulation and exercise responsiveness, with decreased mtDNA copy number, increased mtDNA mutation deletion frequency, and selective redox remodeling of key mitochondrial proteins representing potential contributors to these changes. ABSTRACT Redox
Bradley A. Ruple +11 more
wiley +1 more source
ABSTRACT The white‐eared opossum (Didelphis albiventris) is a Neotropical opportunistic marsupial widely distributed in the Brazilian territory, occupying both open and forest formations. The anatomy of the marsupial female genital tract consists of two ovaries, oviducts, double uterus, two lateral vaginae, vaginal sinus and a urogenital sinus. The two
Bruno Cesar Schimming +2 more
wiley +1 more source
Proteostasis ensures proper protein folding, modification, and degradation, while its impairment triggers ER stress. Chronic ER stress and maladaptive UPR via the CHOP–ERO1 axis remodel ERMCs, altering calcium signaling and mitochondrial metabolism.
Giorgia Maria Renna +5 more
wiley +1 more source
ABSTRACT Introduction Catecholaminergic polymorphic ventricular tachycardia (CPVT) is a potentially life‐threatening arrhythmic disorder typically treated with beta‐blockers and, occasionally, with flecainide. Methods All patients underwent genetic testing, electrocardiogram, echocardiogram, and exercise testing.
Fernando Wangüemert‐Perez +9 more
wiley +1 more source

