Sökning: "19q13"

Visar resultat 1 - 5 av 16 avhandlingar innehållade ordet 19q13.

1. 1. Genetic Studies of Alzheimer's Disease

   Författare :Elin Blom; Anna Glaser; Martin Ingelsson; Lars Lannfelt; Jan Hillert; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Alzheimer s disease; Linkage; Affected sib-pairs; APOE; APP duplication; 10q21; 19q13; Wnt signaling; Geriatrics and medical gerontology; Geriatrik och medicinsk gerontologi;

   Sammanfattning : Patients with Alzheimer's disease (AD) often have a family history of the disease, implicating genetics as a major risk factor. Three genes are currently known to cause familial early-onset AD (65 years), only the APOE gene has repeatedly been associated to AD, where the ε4 allele increases disease risk and decreases age at onset. LÄS MER

3. 2. Diamond-Blackfan anemia : Mapping and identification of the disease gene

   Författare :Peter Gustavsson; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Diamond-Blackfan anemia; erythropoiesis; positional cloning; chromosome 19q13; ribosomal protein S19 gene; Genetik; Clinical genetics; Klinisk genetik; Clinical Genetics; klinisk genetik;

   Sammanfattning : This thesis presents the positional cloning of the gene behind Diamond-Blackfan anemia. Evidence for the involvement of ribosomal protein (RP) S19 gene mutations in Diamond-Blackfan anemia is given. This is the first example of a human disease that is directly related to a ribosomal protein. LÄS MER

4. 3. Human glycogen synthase genes. Role in insulin resistance and hypoglycaemia

   Författare :Marju Orho-Melander; diabetes och endokrinologi Genomik; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; mutation; GYS2; GYS1; glycogen synthase; glycogen; insulin resistance; hypoglycaemia; liver glycogen synthase deficiency; glycogen storage disease type 0; Type 2 diabetes; metabolic syndrome; expression; chromosome 19; 19q13.3; Endocrinology; secreting systems; diabetology; Endokrinologi; sekretion; diabetologi;

   Sammanfattning : Effective insulin-stimulated storage of excess glucose after a meal, and its rapid mobilisation in the fasting state provide basis of glucose homeostasis. Glycogen is the macromolecular storage form of glucose and glycogen synthase (GS) is the rate-limiting enzyme in glycogen synthesis. Skeletal muscle and liver are the major depots of glycogen. LÄS MER

5. 4. Structure, evolution and expression of glandular kallikrein genes

   Författare :Yvonne Ceder; Malmö Klinisk kemi; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Ileum.; Clinical chemistry; Klinisk kemi; Tissue distribution; Androgen responsive element; Ortholog; Evolution; Prostate cancer; Glandular kallikreins; Prostate-specific antigen;

   Sammanfattning : Prostate-specific antigen (PSA) is a worldwide used tool for the diagnosis and monitoring of prostate cancer. It is a serine protease and belongs to the family of glandular kallikreins. Humans have three classical glandular kallikreins, but it has been reported that rodents have many more. LÄS MER

7. 5. Genetic mapping of retinal degenerations in Northern Sweden

   Författare :Linda Köhn; Irina Golovleva; Alison Hardcastle; Umeå universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Bothnia dystrophy; cone dustrophy; linkage analysis; mutation; PITPNM3; PRPF31; retinitis pigmentosa; RLBP1; Medical genetics; Medicinsk genetik; genetik; Genetics;

   Sammanfattning : Inherited retinal degenerations are a group of disorders characterised by great genetic heterogeneity. Clinically, they can be divided into two large groups of diseases, those associated with night blindness, e.g. retinitis pigmentosa (RP), and those with macular malfunction, e. LÄS MER