Results 51 to 60 of about 16,999 (238)

Atrial fibrillation and electrophysiology in transgenic mice with cardiac-restricted overexpression of FKBP12 [PDF]

, 2019
Cardiomyocyte-restricted overexpression of FK506-binding protein 12 transgenic (αMyHC-FKBP12) mice develop spontaneous atrial fibrillation (AF). The aim of the present study is to explore the mechanisms underlying the occurrence of AF in αMyHC-FKBP12 ...
Ai, Tomohiko, Chang, Po-Cheng, Chen, Hanying, Chen, Peng-Sheng, Fishbein, Michael C., Homsi, Mohamed, Li, Bai-Yan, Lin, Shien-Fong, Liu, Jijia, Liu, Ying, Maruyama, Mitsunori, Pan, Zhenwei, Rubart, Michael, Shou, Weinian, Xiao, Deyong   +14 more
core   +1 more source

Further Insights in the Most Common SCN5A Mutation Causing Overlapping Phenotype of Long QT Syndrome, Brugada Syndrome, and Conduction Defect

Journal of the American Heart Association: Cardiovascular and Cerebrovascular Disease, 2016
BackgroundPhenotypic overlap of type 3 long QT syndrome (LQT3), Brugada syndrome (BrS), cardiac conduction disease (CCD), and sinus node dysfunction (SND) is observed with SCN5A mutations.
Christian Veltmann, Hector Barajas‐Martinez, Christian Wolpert, Martin Borggrefe, Rainer Schimpf, Ryan Pfeiffer, Gabriel Cáceres, Elena Burashnikov, Charles Antzelevitch, Dan Hu   +9 more
doaj   +1 more source

Epilepsy‐Associated Variants of a Single SCN1A Codon Exhibit Divergent Functional Properties

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Pathogenic variants in SCN1A, which encodes the voltage‐gated sodium channel NaV1.1, are associated with multiple epilepsy syndromes exhibiting a range of clinical severity. SCN1A variants are reported in different syndromes, including Dravet syndrome, which is associated with loss‐of‐function, whereas neonatal/infantile‐onset ...
Lanie N. Liebovitz, Christopher H. Thompson, Linda C. Laux, Alfred L. George Jr.   +3 more
wiley   +1 more source

Beyond Transconductance: Cell‐Polymer Coupling Determines Fidelity in Action Potential Recording via Electrolyte‐Gated Polymer Transistors

Advanced Science, EarlyView.
High electrical performance alone does not guarantee efficient bioelectronic signal transduction. Despite excellent mixed ionic‐electronic conduction, recordings from cardiomyocytes reveal that p(g2T‐TT)‐based OECTs predominantly transduce field potential FP‐like signals due to weak cell‐polymer coupling.
Giulia Zoe Zemignani, Elena Mancinelli, Gabriele Tullii, Aleksandr Khudiakov, Cristiano Bortolotti, Shubham Tanwar, Peter J. Schwartz, Luca Sala, Maria Rosa Antognazza, Mario Caironi, Adrica Kyndiah   +10 more
wiley   +1 more source

Next-Generation Sequencing in Post-mortem Genetic Testing of Young Sudden Cardiac Death Cases. [PDF]

, 2016
Sudden cardiac death (SCD) in the young (
Ackerman, Ackerman, Ackerman, Anderson, Antzelevitch, Antzelevitch, Bagnall, Basso, Behr, Bellocq, Bezzina, Bezzina, Brugada, Buscemi, Chugh, Creighton, Crotti, Dean, Di Paolo, Elliott, Etheridge, Farrugia, Gaita, Giudicessi, Gladding, Grantham, Gussak, Hayashi, Hedley, Hershberger, Hertz, Hertz, Jabbari, Jefferies, Kapplinger, Lahat, Laitinen, Larsen, Leenhardt, Li, Lodder, Lubitz, MacArthur, Marcus, Maron, Mazzanti, Medeiros-Domingo, Meyer, Miles, Mizusawa, Narula, Neubauer, Neyroud, Nishio, Nunn, Petretta, Plaster, Priori, Priori, Priori, Priori, Probst, Refsgaard, Richard, Richards, Risgaard, Schulze-Bahr, Schwartz, Schwartz, Schwartz, Semsarian, Skinner, Splawski, Stattin, Tester, Tester, Tester, Towbin, van der Werf, van Rijsingen, Ware, Winkel   +81 more
core   +7 more sources

Clinical applications of personalized medicine: a new paradigm and challenge [PDF]

, 2017
The personalized medicine is an emergent and rapidly developing method of clinical practice that uses new technologies to provide decisions in regard to the prediction, prevention, diagnosis and treatment of disease.
Borro, Marina, DI SANZO, Mariantonia, Fineschi, Vittorio, Frati, Paola, LA RUSSA, Raffaele, Santurro, Alessandro, Scopetti, Matteo, Simmaco, Maurizio   +7 more
core   +1 more source

Selective Nitrate Transmembrane Transport Through Adaptive Weak C─H Bonding Cyanostilbene Water Channels

Angewandte Chemie International Edition, EarlyView.
Here we demonstrate that weak HB CH donor cyanostilbenes promote water/ion transport through their ability to form less‐ordered transient water channels within the lipid bilayer with increased water permeability and NO3−/ Cl− selectivity. ABSTRACT Transmembrane water transport strongly depends on how dynamic, translocating water clusters are stabilized
Ioan Stroia, Dan‐Dan Su, Yuhao Li, Niculina Hadade, Ion Grosu, Arie van der Lee, Mihail Barboiu   +6 more
wiley   +1 more source

Sodium and chloride channelopathies with myositis:Coincidence or connection? [PDF]

, 2011
Introduction: A proximal myopathy develops in some patients with muscle channelopathies, but the causative molecular mechanisms are unknown. Methods: We reviewed retrospectively all clinical and muscle biopsy findings of 3 patients with channelopathy and
Arzel-Hezode, Becker, Bradley, Buruma, Colding-Jorgensen, Emery, Fialho, Fontaine, Fournier, George, Hilton-Jones, Links, Matthews, Miller, Nagamitsu, Plassart, Plassart, Ptacek, Ptacek, Rosenfeld, Tidball, Trip, Vicart   +22 more
core   +1 more source

The 3‐Hit Metabolic Signaling Model for Autism Spectrum Disorder: A Summary

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is a highly heritable yet environmentally sensitive neurodevelopmental condition whose biological heterogeneity has resisted a unifying causal explanation for over 100 years. The 3‐hit metabolic signaling model proposes that ASD arises from abnormal persistence of an evolutionarily conserved stress‐response ...
Robert K. Naviaux
wiley   +1 more source

Familial hemiplegic migraine with cerebellar ataxia and paroxysmal psychosis [PDF]

, 1999
Familial hemiplegic migraine is a rare autosomal dominant disorder associated with stereotypic neurologic au ra phenomena including hemiparesis, So far two chromosomal loci have been identified. Families linked to the chromosome 19 locus display missense
Benninger, C., Dichgans, Martin, Schwab, S., Spranger, Matthias, Spranger, S.   +4 more
core   +1 more source