Results 71 to 80 of about 8,166 (199)

In‐depth analysis of osmotic gradient ektacytometry parameters across different genotypes in hereditary spherocytosis

British Journal of Haematology, EarlyView.
Summary Hereditary spherocytosis (HS) is a hereditary haemolytic anaemia, caused by pathogenic variants in genes encoding red blood cell membrane proteins. Osmotic gradient ektacytometry evaluates red cell deformability and hydration and is increasingly used in the diagnosis of HS.
Jonathan R. A. de Wilde, Geoffrey Z. L. Kuppens, Maryse E. Boesveld, Annelies J. van Vuren, Wouter W. van Solinge, Esmé Waanders, Eduard J. van Beers, Minke A. E. Rab, Marije Bartels, Richard van Wijk   +9 more
wiley   +1 more source

Molecular mechanism of Spinocerebellar Ataxia type 6: glutamine repeat disorder, channelopathy or transcriptional dysregulation. The multifaceted aspects of a single mutation.

Frontiers in Cellular Neuroscience, 2015
Spinocerebellar Ataxia type 6 is an autosomal dominant neurodegenerative disease characterized by late onset, slowly progressive, mostly pure cerebellar ataxia.
Paola eGiunti, Paola eGiunti, Elide eMantuano, Marina eFrontali, Liana eVeneziano   +4 more
doaj   +1 more source

Targeting the noncatalytic activity of GSK3β modulates neuronal excitability in medium spiny neurons via Nav1.6 interactions

British Journal of Pharmacology, EarlyView.
Abstract Background and Purpose Kinases phosphorylate ion channels, but their noncatalytic roles via protein–protein interactions (PPI) are less understood. Here, we identified the peptidomimetic ZL141 to characterize the PPI between GSK3β and Nav1.6, revealing a noncatalytic role for GSK3β in regulating Nav1.6 currents and neuronal excitability ...
Aditya K. Singh, Zahra Haghighijoo, Akanksha Gurtu, Nolan M. Dvorak, Timothy J. Baumgartner, Nana A. Goode, Jully Singh, Matteo Bernabucci, Adam T. Szafran, Michael J. Bolt, Michael A. Mancini, Natalie M. Dvorak, Marijn Lijffijt, Zhiqing Liu, Yu Xue, Alyssa K. Thomas, Alejandro Villasante‐Tezanos, Balaji Krishnan, Jia Zhou, Fernanda Laezza   +19 more
wiley   +1 more source

The Molecular Diagnosis of Myopathies: Integrating Genomic, Proteomic, and Pathological Insights Toward Precision Medicine

Clinical Genetics, EarlyView.
Advances in genomic, proteomic, and transcriptomic technologies are transforming the diagnosis of genetic myopathies. When integrated with traditional muscle pathology, multi‐omics approaches improve diagnostic yield, clarify disease mechanisms, and support more precise, mechanism‐based therapeutic strategies for patients with neuromuscular disorders ...
Ludmila Alem, Denise de Abreu Pereira, Katia Carneiro   +2 more
wiley   +1 more source

Novel Observations on the Precursor Arrhythmias of Ventricular Fibrillation in the Ambulatory Setting

Journal of Cardiovascular Electrophysiology, EarlyView.
ABSTRACT Introduction Ventricular fibrillation (VF) is a lethal arrhythmia documented on outpatient telemetry monitoring. Ambulatory ECG in arrhythmic sudden death has shown VF as the terminal arrhythmia in about 80% of cases. Studies of VF in the ambulatory setting are sparse but suggest VF is commonly preceded by monomorphic ventricular tachycardia ...
C. J. Grigoriadis, Eric N. Prystowsky, Manish K. Wadhwa   +2 more
wiley   +1 more source

Huntington's Disease‐like Syndrome as a Rare Presentation of CACNA1A‐Related Disorder

Movement Disorders Clinical Practice, EarlyView.
Petros Boumis, Constantin Potagas, Christos Koros, Vasilios Constantinides, Nikolaos Ragazos, Chrysoula Koniari, Stavroula Aristeidou, Chrisoula Kartanou, Emmanouela Linardaki, Nektarios Tavernarakis, Evangelos Anagnostou, Leonidas Stefanis, Socratis Papageorgiou, Georgia Karadima, Georgios Koutsis   +14 more
wiley   +1 more source

Energetic microdomains and the vascular control of neuronal and muscle excitability: Toward a unified model

The Journal of Physiology, EarlyView.
Abstract figure legend The capillary–mitochondria–ion channel (CMIC) axis scales structural resources to match functional workload. (Left) In settings of restricted energetic capacity (e.g. cortical neurons), sparse capillary networks and modest mitochondrial pools set a lower energetic ceiling, sufficient to support phasic, low‐workload excitability. (
L. Fernando Santana, Scott Earley
wiley   +1 more source

Potential health benefits of cold‐water immersion: the central role of PGC‐1α

The Journal of Physiology, EarlyView.
Abstract figure legend Cold‐water immersion (CWI) elicits autonomic, somato‐motoric (shivering thermogenesis), endocrine and metabolic, sensory transduction, and local biophysical effects that may converge on the transcriptional co‐activator PGC‐1α (centre).
Erich Hohenauer, Wafa Douzi, Johannes Burtscher   +2 more
wiley   +1 more source

Acquired Piezo2 Channelopathy is One Principal Gateway to Pathophysiology

Frontiers in Bioscience-Landmark
The Piezo2 transmembrane proteins were identified by Ardem Patapoutian and his team. They also found that Piezo2 is the principal mechanosensory ion channel responsible for proprioception.
Balázs Sonkodi
doaj   +1 more source

Resistance Training in a Patient With Hypokalemic Periodic Paralysis and Permanent Weakness: A Case Report

Muscle &Nerve, EarlyView.
Jeppe Moesgaard Rasmussen, Anne Lagoni, Tina Dysgaard, Linda Kannuberg, Nanna Witting, Sonja Holm‐Yildiz   +5 more
wiley   +1 more source