Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 17 of 17 for “"long QT syndrome"”.
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The role of the perinexus in Long QT Syndrome Type 3
… voltage-gated sodium channel (Nav1.5) leads to Long QT Syndrome Type 3 (LQT3). LQT3 phenotype can be exacerbated by expanding the perinexus, which is an intercellular nanodomain with high density of Nav1.5 in the intercalated disc. Following this finding, we found that elevating extracellular …
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Human Nav1.5 F1486 deletion associated with long-QT syndrome leads to deficiency in inactivation and reduces lidocaine sensitivity
… Nav1.5, have been well documented to cause long-QT syndrome (LQTs) by disrupting channel inactivation and increasing late sodium current. Previous studies have revealed the importance of the intracellular loop region between transmembrane domain III and IV of sodium channel α subunit in …
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“Am I going to die today?” An investigation into the psychosocial impact of Long QT Syndrome, healthcare experiences and the genetic testing process
Background: LQTS is an inherited cardiac condition that imposes serious risks, including sudden death, and a restricted lifestyle. The limited international research on psychosocial responses to the condition, and to the genetic testing process, indicates high levels of anxiety and depression, …
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Investigating the novel interaction between hERG and the Fc region of IgG and its consequences
… function is responsible for the form of acquired long QT syndrome (LQTS) observed in certain autoimmune patients. Previously, our lab identified the autoantibody anti-Ro52 to interact with hERG and reduce its expression on the cell surface, however the exact mechanism for this is not well …
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Mapping Ligand Binding Sites in hERG1 Channel with Biomolecular Simulations
… of various classes of drugs which can cause QT interval prolongation. The consequent cardiac arrhythmia, known as acquired long QT syndrome, has led to the withdrawal of several approved drugs and a mandatory preclinical stage safety assessment for hERG1 blockade. However, cardiotoxicity …
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Febrile Temperature Facilitates Degradation of Human Ether-a-Go-Go-Related Gene (hERG) Channels
… mutations or drug-mediated effects can lead to long QT syndrome (LQTS), predisposing affected individuals to cardiac arrhythmias, syncope, and sudden death. Recently, studies have reported roles for fever in triggering QT prolongation and life-threatening cardiac arrhythmias in patients with …
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Trafficking motifs in potassium channels
… Decreased hERG channel function causes the Long QT syndrome 2 (LQTS2) and life threatening cardiac arrhythmias. Several mutations in these two clinically important potassium ion channels alter their surface density leading to disease. Therefore, it is of fundamental importance to investigate …
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Referral Patterns and Utilization of Clinical Genetic Testing For Patients With Inherited Cardiac Disease
… known as hypertrophic cardiomyopathy (HCM) and long QT syndrome (LQTS). The majority of participants in this study responded that they never or rarely utilize genetic testing (81%, n = 17) and they felt that uncertainties concerning where and how to obtain genetic testing coupled with cost and …
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Genetic Variants and Risk in Sudden Cardiac Death Syndromes
… a known genetic basis, including for example long QT syndrome (LQTS) and hypertrophic cardiomyopathy (HCM), and clinicians strive to identify the patients at highest risk of SCD events. Incomplete penetrance and variable expressivity even amongst individuals with the same diseasecausing …
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Athletes heart and exercise related sudden cardiac death: Across the age span
… of exercise are well known, the impact of life-long endurance exercise is less well understood. Long term high-intensity endurance exercise is associated with changes in cardiac morphology together with electrocardiographic alterations that are believed to be physiologic in nature. Recent data …
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Characterization of cardiac IKs channel gating using voltage clamp fluorometry
… that result in cardiac arrhythmia, most notably Long QT syndrome, which results from loss of IKs current and an associated prolongation of the cardiac action potential. In addition, gain-of-function IKs mutations have been implicated in Short QT Syndrome and an inherited form of atrial …
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Assessing the Relationship Between Electronic Medical Record (EMR) Generated QTc Alerts and Cancer Patient Mortality
BACKGROUND: EMR generated drug associated QTc alerts are generated frequently in cancer patient populations and in the last few years their annual frequency has outgrown the number of unique patient visits at our institution. Anecdotally, they are largely ignored by providers, contributing to …
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Functional and Biochemical Characterization of KCNQ1/KCNE1 Subunit Interactions in the Cardiac IKs Potassium Channel
… subunit are associated with cardiac arrhythmia syndromes, including long QT syndrome (LQTS), short QT syndrome (SQTS) and familial atrial fibrillation (FAF). The biophysical properties of IKs channel current are dramatically altered when KCNE1 associates with the KCNQ1 channel. Functional …
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Die Bedeutung des Kaliumkanals KvLQT1 und seiner regulatorischen Untereinheiten für die Epithelfunktion in vivo.
Der kardiale Kaliumkanal KvLQT1, der auch unter dem Namen KCNQ1 bekannt ist, ist in einer Vielzahl von epithelialen Organen exprimiert. Unter anderem konnte er im Gewebe von Niere, Magen und Lunge nachgewiesen werden. Die vorliegende Arbeit beschäftigt sich mit der Funktion dieses Kaliumkanals und …
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Adenylyl Cyclase Type 9: Regulation and Cardiac Function
<p>Abnormalities in cardiac stress signaling underlie a number of cardiovascular diseases (e.g. arrhythmias and heart failure). Cardiac stress signaling pathways normally integrate signals from the sympathetic nervous system to promote efficient contraction and relaxation under stress. Sympathetic …