Sökning: "chromosome 19q13"

Visar resultat 1 - 5 av 9 avhandlingar innehållade orden chromosome 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. Investigation of immunological preconditions in MS patients "MS immunopathic trait"

   Författare :Sara Haghighi; Göteborgs universitet; []
   Nyckelord :multiple sclerosis; siblings; CSF; oligoclonal; cytokine; sulfatide; genetics; trait;

   Sammanfattning : We examined 47 MS patients, 47 healthy siblings and 50 healthy unrelated individuals with blood and CSF analysis and found that 19 % (9/47) of healthy siblings of clinically definite multiple sclerosis patients had an intrathecal immunological reaction to ¡Ý 2 CSF-enriched OCB, in contrast to 4% (2/50) of the unrelated healthy controls. We termed this condition ¡°MS immunopathic trait¡±. LÄS MER

7. 5. Gene expression profiles at the myotonic dystrophy 1 locus : possible role in disease mechanisms

   Författare :Maria Eriksson; Karolinska Institutet; Karolinska Institutet; []
   Nyckelord :;

   Sammanfattning : Myotonic dystrophy 1 (DM1) is the commonest adult onset muscular dystrophy, (prevalence 1/8000). The disorder is characterized by anticipation (earlier onset in successive generations, which is accompanied in this disorder by an increase in severity of symptoms) and variable multisystemic symptom presentation. LÄS MER