Global ETD Search
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Showing 1 to 18 of 18 for “"KCNQ1"”.
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Transcript Regulation within the Kcnq1 Domain
… being expressed. One imprinted domain is the Kcnq1 domain located on chromosome 11p15.5 in humans and chromosome 7 in the mouse. This domain is thought to be under the control of a paternally expressed long noncoding RNA (ncRNA) Kcnq1ot1. The Kcnq1ot1 ncRNA is expressed on the paternal …
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Functional and Biochemical Characterization of KCNQ1/KCNE1 Subunit Interactions in the Cardiac IKs Potassium Channel
… assembly of pore-forming alpha subunits (KCNQ1) and accessory beta (KCNE1) subunits. IKs is the slowly activating component of delayed rectifier K+ current in the heart and is a major contributor to the timing of repolarization of the cardiomyocyte membrane potential. Inherited mutations …
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Beitrag genetischer Varianten in den Genen LOT1(ZAC1/PLAGL1) und KCNQ1 zur Ätiologie des Silver-Russell-Syndroms
… alterations in the genes LOT1(ZAC1/PLAGL1) and KCNQ1 which may play a role in the etiology of the Silver-Russell syndrome (SRS). For this reason, both genes were tested for genomic variations. Furthermore, a quantitative gene-copy analysis for LOT1(ZAC1/PLAGL1) was introduced to identify genomic …
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Characterization of cardiac IKs channel gating using voltage clamp fluorometry
… the voltage gated potassium (Kv) channel family, KCNQ1 (Kv7.1). Like other members of the voltage gated potassium family, the KCNQ1 channel is made up of four subunits, each containing a voltage sensing domain and a pore-forming domain. Tetrameric channels form with a single central pore domain, …
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Die Bedeutung des Kaliumkanals KvLQT1 und seiner regulatorischen Untereinheiten für die Epithelfunktion in vivo.
… 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 seiner …
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Regulation of the Kcnq1ot1 Imprinting Domain in Mouse
… based on parental-origin of an allele. The Kcnq1ot1 imprinting cluster consists of an imprinting control region (ICR), the Kcnq1ot1 ncRNA, and maternally expressed protein-coding genes. Truncation of the Kcnq1ot1 ncRNA or deletion of the Kcnq1ot1 ICR, including the Kcnq1ot1 ncRNA promoter …
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The novel role of epidermal growth factor (EGF) in the regulation of ion channels in the calu-3 submucosal cell line
… current at one hour via a EGFR-PI3K-PKC-δ-KCNN4/KCNQ1 signalling pathway. Similarly, preincubation with EGF also decreased forskolin induced short circuit current compared to untreated monolayers at 1 to 3 hours, with a recovery at 24 hours. The decreases were found to be dependent on the …
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Charakterisierung von KCNQ-Kaliumkanälen und ihren Beta-Untereinheiten
… Im ersten Teil wurde die Expression von KCNQ1 und den beta-Untereinheiten KCNE2 und KCNE3 im Gastrointestinaltrakt mit Immunfluoreszenz und in situ Hybridisierung untersucht. Der zweite Teil der Arbeit beinhaltete die Charakterisierung einer Punktmutation im Spannungssensor von KCNQ2. …
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Simulation Of The Undiseased Human Cardiac Ventricular Action Potential: Model Formulation, Experimental Validation And Application
… the "silent" Long-QT mutation Q357R in KCNQ1.
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Explorando los canales de potasio KCNQ : una perspectiva en trastornos del neurodesarrollo y cardíacos
… cuya función es desconocida. Alteraciones en KCNQ1, presente en cardiomiocitos, causan canalopatías cardiacas como el Síndrome de QT Largo (SQTL). El capítulo 1 de esta tesis se centró en la generación de un modelo murino de autismo, inducido por la exposición prenatal al ácido valproico, a …
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Exocytosis in Type 2 Diabetes- Functional and genetic studies of hormone secretion
… of 4 SNPs in or near TCF7L2, KCNJ11, ADRA2A and KCNQ1 that successfully predict reduced exocytosis, calcium-sensitivity, granular docking and GSIS. Finally, in paper V, knock-down of rno-microRNA-335 in insulin-secreting cells was found to increase Stxbp1 expression which correlates with …
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Mechanisms of defective insulin secretion in type 2 diabetes
… susceptibility variants near ADRA2A, KCNJ11, KCNQ1, and TCF7L2 were associated with reduced depolarization-evoked insulin exocytosis. We combined our results to create a novel genetic risk score for B-cell dysfunction that includes aberrant granule docking, decreased Ca2+ sensitivity of …
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Genetic Variants and Risk in Sudden Cardiac Death Syndromes
… minor alleles of SNPs at two loci (NOS1AP and KCNQ1) increased the risk of SCD and cardiac arrest in patients with LQTS, independently of the QTc interval. 3) In patients with HCM, marked QTc prolongation was associated with an increased risk of SCD events, and the minor alleles of SNPs at the …
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Vectorcardiographic evaluation of ventricular repolarization in healthy individuals and LQTS mutation carriers
… common LQT1 mutations (R518X and Y111C in the KCNQ1 gene) with biophysically different properties and also compare the LQT1 mutation carriers with age and sex matched healthy control subjects as well as with a group of LQT2 mutation carriers. 3. Evaluate VR instability by calculating the beat …
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Vascular Kv7 (KCNQ) Potassium Channels As Therapeutic Targets in Cerebral Vasospasm
… of all five mammalian KCNQ channel subtypes (KCNQ1-5) in freshly isolated rat basilar artery myocytes. Kv currents recorded using the whole-</p><p>cell patch-clamp techniques were attributed to Kv7 channel activity based on their voltage dependence of activation, lack of inactivation, …
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Untersuchung zu (epi)genetischen Veränderungen auf Chromosom 11p15 und ihre funktionelle Relevanz bei Patienten mit Silver-Russell-Syndrom
… and imprinted factor CDKN1C and a further gene (KCNQ1) localised in the duplicated region. In addition to this case we could detect another patient with SRS showing a maternal duplication in 11p15, including both ICRs. Moreover, functional analyses on three variations of the genomic sequence in …
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Die ß-Untereinheit minK verändert die Reaktion des menschlichen Kaliumkanals KvLQT1 auf Änderungen des zytosolischen pH, seine Temperaturempfindlichkeit und seine Empfindlichkeit für Pharmaka
Seitdem bekannt ist, dass KvLQT1 und minK durch Zusammenlagerung den KvLQT1/minK-Kanal bilden, wurden einige fundamentale Unterschiede zwischen den Strömen IKv und IKs beschrieben, die durch diese Kanäle geleitet werden. Die Assoziation mit dem minK-Protein führt sowohl zu Veränderungen der …
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Muscle disorder or metabolic disorder: genomic, transcriptomic, and metabolomic insights into the pathogenesis of wooden breast and white striping in commercial broiler chickens
… voltage-gated channel subfamily Q member 1 (KCNQ1), involved in insulin secretion and cardiac electrical activity, lymphocyte-specific protein 1 (LSP1), involved in inflammation and immune response, and dynamin 2 (DNM2), involved in biphasic insulin secretion and associated with two …