Sökning: "GCK"

Hittade 4 avhandlingar innehållade ordet GCK.

  1. 1. Characterization of candidate disease genes from human chromosomes 11g13 and 22q

    Författare :Darek Kedra; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :Fugu rubripes; 11q13 region; MEN1; menin; GCK; DMPKL; meningioma; clathrin; adaptin; NIPSNAP; synaptogyrin; TOM1; SMARCB1;

    Sammanfattning : Two regions of the human genome, 11q13 and 22q, have been shown to harbor numerous disease-related genes, among them tumor suppressor genes (TSGs). The aim of this project was to construct transcription maps within these chromosomal segments, and thus provide a basis for further analysis of some of the genes for their involvement in disease-related processes. LÄS MER

  3. 2. Exploring Positional and Functional Candidate Genes for Type 2 Diabetes

    Författare :Johan Holmkvist; diabetes och endokrinologi Genomik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; secreting systems; diabetology; Endokrinologi; sekretion; diabetologi; MODY; type 2 diabetes; Endocrinology; calcium channel; insulin secretion; insulin; single nucleotide polymorphism SNP glucose; linkage disequilibrium; genetic association; genetics;

    Sammanfattning : Type 2 diabetes (T2D) is a complex, metabolic disorder characterized by hyperglycaemia because of defects in insulin secretion and sensitivity. The rapid increase in T2D is likely to reflect the influence of both genetic and environmental factors in disease development. However, the genetic aetiology of T2D remains largely unknown. LÄS MER

  4. 3. Exploring the Grey Zone between Type 1 and Type 2 Diabetes

    Författare :Ekaterine Bakhtadze; diabetes och endokrinologi Genomik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

    Sammanfattning : T1D is most common in children and young adults and is characterized by autoimmune destruction of insulin producing pancreatic beta cells, presence of certain risk genotypes such as HLA-DQB1, INS VNTR, PTPN22 and need of insulin for survival. In adults the same situation is often referred to as Latent Autoimmune Diabetes in Adults (LADA), with age at onset after 35 years and non-insulin requiring at least for 6 month after diagnosis. LÄS MER

  5. 4. Genetic and immunological risk factors of gestational diabetes mellitus

    Författare :Nael Shaat; diabetes och endokrinologi Genomik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; GDM; Association; genetics; gestational diabetes mellitus metabolic syndrome; MODY; type 1 diabetes; risk factors; type 2 diabetes; Endocrinology; diabetology; secreting systems; autoimmunity; Endokrinologi; sekretion; diabetologi;

    Sammanfattning : Gestational diabetes mellitus (GDM) is a heterogeneous disorder that is defined as carbohydrate intolerance with onset or first recognition during pregnancy. Impaired beta-cell function and insulin resistance are the hallmarks of GDM. LÄS MER