Results 91 to 100 of about 16,999 (238)

Investigation of Known Genetic Mutations of Arabian Horses in Egyptian Arabian Foals with Juvenile Idiopathic Epilepsy. [PDF]

, 2017
BackgroundThe carrier status of lavender foal syndrome (LFS), cerebellar abiotrophy (CA), severe combined immunodeficiency (SCID), and occipitoatlantoaxial malformation (OAAM1) in foals with juvenile idiopathic epilepsy (JIE) is unknown.Hypothesis ...
Aleman, M, Finno, CJ, Penedo, MCT, Weich, K   +3 more
core   +1 more source

Proteomic Profiling of Myofiber Repair Annexins and Their Role in Duchenne Muscular Dystrophy

PROTEOMICS, EarlyView.
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, Dounia Bouragba, Elisa Negroni, Capucine Trollet, Margit Zweyer, Dieter Swandulla, Kay Ohlendieck   +6 more
wiley   +1 more source

A Case for Inclusion of Genetic Counselors in Cardiac Care [PDF]

, 2016
Recent advances in genetic testing for heritable cardiac diseases have led to an increasing involvement of the genetic counselor in cardiology practice.
Ackerman, Michael J., Arscott, Patricia, Caleshu, Colleen, Cherny, Sara, Hadi, Azam, Kotzer, Katrina, Kreykes, Sarah, Kruisselbrink, Teresa, Larsen Haidle, Joy, Mani, Arya, Marvin, Monica, Ommen, Steven, Orland, Kate, Rigelsky, Christina, Smith, Emily, Spoonamore, Katherine   +15 more
core   +1 more source

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

PTEN: A master regulator of neuronal structure, function, and plasticity. [PDF]

, 2014
PTEN (phosphatase and tensin homolog on chromosome ten) is a dual protein/lipid phosphatase that dephosphorylates PIP3, thereby inhibiting the AKT/mTOR pathway. This inhibition ultimately decreases protein translation, cell proliferation and cell growth.
Garcia-Junco-Clemente, Pablo, Golshani, Peyman   +1 more
core   +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

Intracardiac electrophysiology to characterize susceptibility to ventricular arrhythmias in murine models

Frontiers in Physiology
Introduction: Sudden cardiac death (SCD) and ventricular fibrillation are rare but severe complications of many cardiovascular diseases and represent a major health issue worldwide. Although the primary causes are often acute or chronic coronary diseases,
Marine C. Ferrand, Gauthier Giordano, Gauthier Giordano, Nathalie Mougenot, Pierre-Léo Laporte, Pierre-Léo Laporte, Nicolas Vignier, Arnaud Leclerc, Vincent Algalarrondo, Fabrice Extramiana, Fabrice Extramiana, Flavien Charpentier, Nathalie Neyroud   +12 more
doaj   +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

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, Alexis Arzimanoglou, Andreja Avbersek, Ashley R. Helseth, Bazett, Berge A. Minassian, Brian Neville, Carmen Fons, Claudio Zucca, Cyrus Boelman, Edvige Veneselli, Elijah R. Behr, Elisa De Grandis, Fatima Jaffer, Francesca Ragona, Hendrik Rosewich, Henry Houlden, Ines Carrilho, Ingrid E. Scheffer, Isabelle Gourfinkel-An, J. Helen Cross, Jan Novy, Jaume Campistol, Josemir W. Sander, Juan P. Kaski, Manju A. Kurian, Matthew Parton, Melania Gianotta, Michael G. Hanna, Michela Stagnaro, Mohamed Mikati, Nardo Nardocci, Pier D. Lambiase, Rosaria Vavassori, Rosewich, Sanjay M. Sisodiya, Sarah E. Aylett, Sarah I. Garry, Sophia Johns, Tiziana Granata, Tsveta Schyns, Vos, Weigand, Zahler   +43 more
core   +4 more sources

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