Sökning: "KCNQ1 gene"

Visar resultat 1 - 5 av 12 avhandlingar innehållade orden KCNQ1 gene.

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

    Författare :Taman Mahdi; Diabetes - öpatofysiologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; type 2 diabetes; Insulin secretion; TCF7L2; ADRA2A; KCNQ1; SFRP4; interleukin-1B;

    Sammanfattning : 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. LÄS MER

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

    Författare :Annika Winbo; Annika Rydberg; Eric Schulze-Bahr; Umeå universitet; []
    Nyckelord :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; pediatrik; Pediatrics;

    Sammanfattning : 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. LÄS MER

  4. 3. Molecular Insights into Kcnq1ot1 Noncoding Antisense RNA Mediated Long Range Transcriptional Gene Silencing

    Författare :Radha Raman Pandey; Chandrasekhar Kanduri; Karl Ekwall; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; epigenetics; gene silencing; noncoding RNA; genomic imprinting; Kcnq1ot1; Medical genetics; Medicinsk genetik;

    Sammanfattning : Non-coding antisense RNAs have been implicated in the epigenetic silencing of individual gene as well as chromosomal domains. While silencing of the overlapping gene by antisense RNAs has been well investigated, their functional role in silencing of chromosomal domains remains enigmatic. LÄS MER

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

    Författare :Noopur Thakur; Chandrasekhar Kanduri; Thomas Ekstrom; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular biology; Genomic imprinting; Imprinting control region; Antisense RNA; de novo methylation; Molekylärbiologi; Molecular biology; Molekylärbiologi;

    Sammanfattning : 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). LÄS MER

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

    Författare :Meena Kanduri; Rolf Ohlsson; Karl Ekwall; Uppsala universitet; []
    Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; DNA methylation; Imprinting control region; Chromatin; Insulator; Nucleosome positioning; Genetik; Genetics; Genetik;

    Sammanfattning : 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. LÄS MER