Results 81 to 90 of about 2,073 (179)
Türk Kardiyoloji Derneği Arşivi, 2018 Andersen-Tawil syndrome (ATS) is a disorder that causes episodes of muscle weakness (periodic paralysis), changes in heart rhythm, and developmental abnormalities.
Yakup Ergül +3 more
doaj +1 more source
Inheritance and genetics in idiopathic scoliosis [PDF]
, 2015 Idiopathic scoliosis is the most common spine deformity, affecting approximately 3% of children and adolescents. Its aetiology is still unknown. However, relatives of individuals with idiopathic scoliosis have a higher risk of developing scoliosis ...
Grauers, Anna
core +1 more source
Hypokalemic Paralysis Is Not Always Periodic: A Case Series
Case Reports in Medicine, Volume 2025, Issue 1, 2025.Potassium is vital for cellular function, particularly in excitable tissues like nerves and muscles, which rely on potassium gradients to function normally. Hypokalemia can lead to severe issues such as muscle weakness and irregular heart rhythms. This case series presents four instances of hypokalemic paralysis, a neuromuscular condition that can be ...
Mohak Jain +8 more
wiley +1 more source
Local overexpression of the myostatin propeptide increases glucose transporter expression and enhances skeletal muscle glucose disposal [PDF]
, 2014 Insulin resistance (IR) in skeletal muscle is a prerequisite for type 2 diabetes and is often associated with obesity. IR also develops alongside muscle atrophy in older individuals in sarcopenic obesity. The molecular defects that underpin this syndrome
Andersen, D K +8 more
core +3 more sources
Italian Journal of Pediatrics, 2022 Background Hypokalemic periodic paralysis is a rare neuromuscular genetic disorder due to defect of ion channels and subsequent function impairment. It belongs to a periodic paralyses group including hyperkalemic periodic paralysis (HEKPP), hypokalemic ...
Maria Carolina Colucci +10 more
doaj +1 more source
The FASEB Journal, Volume 38, Issue 21, 15 November 2024.In this work, we were able to identify the molecular mechanisms by which two ATS‐causing mutations (C154Y and R312H) affect the function of these channels. Both mutants impair the channel function, even though they can bind to the lipid activator PIP2. Notably, they hinder the channel function by different mechanisms. Our data support that C154Y exerts
Dania Zuniga +12 more
wiley +1 more source
Secondary anionic phospholipid binding site and gating mechanism in Kir2.1 inward rectifier channels [PDF]
, 2013 Inwardly rectifying potassium (Kir) channels regulate multiple tissues. All Kir channels require interaction of phosphatidyl-4,5-bisphosphate (PIP(2)) at a crystallographically identified binding site, but an additional nonspecific secondary anionic ...
Borschel, William +5 more
core +2 more sources
Identification of a novel loss-of-function calcium channel gene mutation in short QT syndrome (SQTS6) [PDF]
, 2017 Aims Short QT syndrome (SQTS) is a genetically determined ion-channel disorder, which may cause malignant tachyarrhythmias and sudden cardiac death. Thus far, mutations in five different genes encoding potassium and calcium channel subunits have been ...
Abriel, Hugues +14 more
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Faulty cardiac repolarization reserve in alternating hemiplegia of childhood broadens the phenotype [PDF]
, 2015 Alternating hemiplegia of childhood is a rare disorder caused by de novo mutations in the ATP1A3 gene, expressed in neurons and cardiomyocytes. As affected individuals may survive into adulthood, we use the term 'alternating hemiplegia'.
Aicardi +43 more
core +4 more sources
Skeletal muscle: molecular structure, myogenesis, biological functions, and diseases
MedComm, Volume 5, Issue 7, July 2024.The article systematically and comprehensively reviews the physiological and pathological processes associated with skeletal muscles from five perspectives: molecule basis, myogenesis, biological function, poststimulation response, and myopathy. We primarily focus on nuclei‐related behaviors of skeletal muscle, cell–cell fusion, and nuclei migration in
Lan‐Ting Feng +2 more
wiley +1 more source