Search Results - "Kline, Crystal F."
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SCN5A variant that blocks fibroblast growth factor homologous factor regulation causes human arrhythmia
Published in Proceedings of the National Academy of Sciences - PNAS (06-10-2015)“…Nav channels are essential for metazoan membrane depolarization, and Nav channel dysfunction is directly linked with epilepsy, ataxia, pain, arrhythmia,…”
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2
βIV-Spectrin and CaMKII facilitate Kir6.2 regulation in pancreatic beta cells
Published in Proceedings of the National Academy of Sciences - PNAS (22-10-2013)“…Identified over a dozen years ago in the brain and pancreatic islet, β IV-spectrin is critical for the local organization of protein complexes throughout the…”
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3
Common human ANK2 variant confers in vivo arrhythmia phenotypes
Published in Heart rhythm (01-09-2016)“…Background Human ANK2 (ankyrin-B) loss-of-function variants are directly linked with arrhythmia phenotypes. However, in atypical non–ion channel arrhythmia…”
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Dual role of KATP channel C-terminal motif in membrane targeting and metabolic regulation
Published in Proceedings of the National Academy of Sciences - PNAS (29-09-2009)“…The coordinated sorting of ion channels to specific plasma membrane domains is necessary for excitable cell physiology. KATP channels, assembled from…”
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Altered Expression of Zonula occludens-1 Affects Cardiac Na + Channels and Increases Susceptibility to Ventricular Arrhythmias
Published in Cells (Basel, Switzerland) (14-02-2022)“…Zonula occludens-1 (ZO-1) is an intracellular scaffolding protein that orchestrates the anchoring of membrane proteins to the cytoskeleton in epithelial and…”
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6
Regulation of Cardiac ATP-sensitive Potassium Channel Surface Expression by Calcium/Calmodulin-dependent Protein Kinase II
Published in The Journal of biological chemistry (18-01-2013)“…Cardiac ATP-sensitive potassium (KATP) channels are key sensors and effectors of the metabolic status of cardiomyocytes. Alteration in their expression impacts…”
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Use of Whole Exome Sequencing for the Identification of Ito‐Based Arrhythmia Mechanism and Therapy
Published in Journal of the American Heart Association (01-05-2015)“…Background Identified genetic variants are insufficient to explain all cases of inherited arrhythmia. We tested whether the integration of whole exome…”
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Ankyrin-B syndrome: enhanced cardiac function balanced by risk of cardiac death and premature senescence
Published in PloS one (17-10-2007)“…Here we report the unexpected finding that specific human ANK2 variants represent a new example of balanced human variants. The prevalence of certain ANK2…”
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A β(IV)-spectrin/CaMKII signaling complex is essential for membrane excitability in mice
Published in The Journal of clinical investigation (01-10-2010)“…Ion channel function is fundamental to the existence of life. In metazoans, the coordinate activities of voltage-gated Na(+) channels underlie cellular…”
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10
Ankyrin regulates KATP channel membrane trafficking and gating in excitable cells
Published in Channels (Austin, Tex.) (01-01-2010)“…KATP channels play critical roles in many cellular functions by coupling cell metabolic status to electrical activity. First discovered in cardiomyocytes 1,…”
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Defining the molecular signatures of human right heart failure
Published in Life sciences (1973) (01-03-2018)“…Right ventricular failure (RVF) varies significantly from the more common left ventricular failure (LVF). This study was undertaken to determine potential…”
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Ankyrin-B Regulates Cav2.1 and Cav2.2 Channel Expression and Targeting
Published in The Journal of biological chemistry (21-02-2014)“…N-type and P/Q-type calcium channels are documented players in the regulation of synaptic function; however, the mechanisms underlying their expression and…”
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13
Dysfunction in the βII spectrin-dependent cytoskeleton underlies human arrhythmia
Published in Circulation (New York, N.Y.) (24-02-2015)“…The cardiac cytoskeleton plays key roles in maintaining myocyte structural integrity in health and disease. In fact, human mutations in cardiac cytoskeletal…”
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Novel Variant in the ANK2 Membrane-Binding Domain Is Associated With Ankyrin-B Syndrome and Structural Heart Disease in a First Nations Population With a High Rate of Long QT Syndrome
Published in Circulation. Cardiovascular genetics (01-01-2017)“…BACKGROUND—Long QT syndrome confers susceptibility to ventricular arrhythmia, predisposing to syncope, seizures, and sudden death. While rare globally, long QT…”
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Protein phosphatase 2A regulatory subunit B56α limits phosphatase activity in the heart
Published in Science signaling (21-07-2015)“…Protein phosphatase 2A (PP2A) is a serine/threonine-selective holoenzyme composed of a catalytic, scaffolding, and regulatory subunit. In the heart, PP2A…”
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Defective interactions of protein partner with ion channels and transporters as alternative mechanisms of membrane channelopathies
Published in Biochimica et biophysica acta (01-02-2014)“…The past twenty years have revealed the existence of numerous ion channel mutations resulting in human pathology. Ion channels provide the basis of diverse…”
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Ankyrin-B Regulates Kir6.2 Membrane Expression and Function in Heart
Published in The Journal of biological chemistry (10-09-2010)“…Ankyrin polypeptides are critical for normal membrane protein expression in diverse cell types, including neurons, myocytes, epithelia, and erythrocytes…”
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Ranolazine inhibits voltage-gated mechanosensitive sodium channels in human colon circular smooth muscle cells
Published in American journal of physiology: Gastrointestinal and liver physiology (15-09-2015)“…Human jejunum smooth muscle cells (SMCs) and interstitial cells of Cajal (ICCs) express the SCN5A-encoded voltage-gated, mechanosensitive sodium channel…”
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Dysfunction of the β2-spectrin-based pathway in human heart failure
Published in American journal of physiology. Heart and circulatory physiology (01-06-2016)“…β2-Spectrin is critical for integrating membrane and cytoskeletal domains in excitable and nonexcitable cells. The role of β2-spectrin for vertebrate function…”
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Eps15 Homology Domain-containing Protein 3 Regulates Cardiac T-type Ca2+ Channel Targeting and Function in the Atria
Published in The Journal of biological chemistry (08-05-2015)“…Proper trafficking of membrane-bound ion channels and transporters is requisite for normal cardiac function. Endosome-based protein trafficking of…”
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