Search for dissertations about: "KCNQ1"

Showing result 1 - 5 of 13 swedish dissertations containing the word KCNQ1.

  1. 1. Mechanisms of defective insulin secretion in type 2 diabetes

    University dissertation from Islet patophysiology

    Author : Taman Mahdi; Lund University.; Lunds universitet.; Lund University.; Lunds universitet.; [2013]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; type 2 diabetes; Insulin secretion; TCF7L2; ADRA2A; KCNQ1; SFRP4; interleukin-1B;

    Abstract : Defective insulin secretion from the pancreatic B-cells is a central feature in type 2 diabetes (T2D). There is a strong hereditary component in type T2D, but the underlying pathophysiology remains largely unknown. READ MORE

  2. 2. Long QT syndrome in Sweden founder effects and associated cardiac phenotypes

    University dissertation from Umeå : Umeå universitet

    Author : Annika Winbo; Umeå universitet.; [2012]
    Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Long QT Syndrome; Jervell and Lange-Nielsen Syndrome; inherited arrhythmia; founder effects; clinical genetics; haplotype analysis; mutation age; founder mutation; clinical phenotype; life-threatening cardiac events; mutation-specific; KCNQ1 gene; modifier genes; sequence variants; risk stratification; risk factor; gender; Pediatrics; pediatrik;

    Abstract : Background: We aimed to increase the knowledge regarding the familial arrhythmogenic disorder Long QT Syndrome (LQTS) and its recessive variant Jervell and Lange-Nielsen Syndrome (JLNS) in Sweden, including prevalences and clinical phenotypes. A specific focus was directed towards two KCNQ1 mutations –p.Y111C and p. READ MORE

  3. 3. The Functional Significance and Chromatin Organisation of the Imprinting Control Regions of the H19 and Kcnq1 Genes

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Meena Kanduri; Uppsala universitet.; [2004]
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; DNA methylation; Imprinting control region; Chromatin; Insulator; Nucleosome positioning; Genetik; NATURAL SCIENCES Biology Cell and molecular biology Genetics; NATURVETENSKAP Biologi Cell- och molekylärbiologi Genetik;

    Abstract : Genomic imprinting is a phenomenon through which a subset of genes are epigenetically marked during gemtogenisis. This mark is maintained in the soma to often manifest parent of origin-specific monoalleleic expresson patterns. READ MORE

  4. 4. Long-range Control of Gene Expression by Imprinting Control Regions During Development and Neoplasia

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Noopur Thakur; Uppsala universitet.; [2005]
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; Molecular biology; Genomic imprinting; Imprinting control region; Antisense RNA; de novo methylation; Molekylärbiologi; NATURAL SCIENCES Biology Cell and molecular biology Molecular biology; NATURVETENSKAP Biologi Cell- och molekylärbiologi Molekylärbiologi;

    Abstract : Genomic imprinting is an epigenetic phenomenon by which a subset of genes is expressed in a parent of origin specific manner. Most of the imprinted genes are located in clusters. Genetic evidences suggest that genes in imprinted clusters are regulated by Imprinting Control Regions (ICRs). READ MORE

  5. 5. Long Noncoding RNA Mediated Regulation of Imprinted Genes

    University dissertation from Uppsala : Acta Universitatis Upsaliensis

    Author : Faizaan Mohammad; Uppsala universitet.; [2010]
    Keywords : NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Genomic imprinting; noncoding RNA; epigenetics; chromatin; DNA methylation; NATURAL SCIENCES Biology Organism biology Developmental biology; NATURVETENSKAP Biologi Organismbiologi Utvecklingsbiologi; NATURAL SCIENCES Biology Cell and molecular biology Molecular biology; NATURVETENSKAP Biologi Cell- och molekylärbiologi Molekylärbiologi; Biology with specialization in Molecular Biology; Biologi med inriktning mot molekylärbiologi;

    Abstract : Genomic imprinting is an epigenetic phenomenon that causes a subset of mammalian genes to be expressed from only one allele in a parent-of-origin manner. The defects in the imprinting regulation result in disorders that affect development, growth and metabolism. READ MORE