Sökning: "Chromosome 11"

Visar resultat 6 - 10 av 97 avhandlingar innehållade orden Chromosome 11.

1. 6. Development and Application of Microarray-Based Comparative Genomic Hybridization : Analysis of Neurofibromatosis Type-2, Schwannomatosis and Related Tumors

   Författare :Patrick Buckley; Jan Dumanski; Olivier Delattre; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Genomic microarray; Array-CGH; DNA copy number variation; Neurofibromatosis type-2; Schwannomatosis; Schwannoma; Meningioma; NF2; Chromosome 22; Genetik; Clinical genetics; Klinisk genetik;

   Sammanfattning : Neurofibromatosis type-2 (NF2) is an autosomal dominant disorder with the clinical hallmark of bilateral eighth cranial nerve schwannomas. However, the diagnostic criterion is complicated by the presence of a variable phenotype, with the severe form presenting with additional tumors such as peripheral schwannoma, meningioma and ependymoma. LÄS MER

3. 7. Cardiovascular Risk Genes in Prevention and Treatment Response

   Författare :Viktor Hamrefors; Kardiovaskulär forskning - hypertoni; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; blood pressure treatment; hypertension; statins; dyslipidemia; cardiovascular prevention; cardiovascular genetics; stroke; coronary artery disease; chromosome 9p21; pharmacogenetics; pharmacogenomics;

   Sammanfattning : GENERAL AIM: To investigate how common single-nucleotide-polymorphisms (SNPs) that associate with cardiovascular disease (CVD) could be used in prevention and treatment of CVD. SUBJECTS: Subjects from the population-based Malmö-Diet-and-Cancer-(MDC)-Study (n=30447) and hypertensives from the Nordic-Diltiazem-(NORDIL)-Study (n=10881). LÄS MER

4. 8. 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. 9. Microarray-Based Comparative Genomic Hybridization in Neurofibromatoses and DiGeorge Syndrome

   Författare :Kiran K. Mantripragada; Jan P. Dumanski; Peter Lichter; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; array-CGH; neurofibromatoses; neurofibromatosis type 1; neurofibromatosis type 2; schwannomatosis; DiGeorge syndrome; 22q11 syndrome; chromosome 22; genomic microarrays; DNA copy number; Genetik; Clinical genetics; Klinisk genetik;

   Sammanfattning : Microarray-based comparative genomic hybridization (array-CGH) has emerged as a versatile platform with a wide range of applications in molecular genetics. This thesis focuses on the development of array-CGH with a specific aim to approach disease-related questions through improved strategies in array construction and enhanced resolution of analysis. LÄS MER

7. 10. Studies of gene fusions and copy number alterations in salivary and adnexal neoplasms

   Författare :Marta Persson; Göteborgs universitet; []
   Nyckelord :cancer genetics; fusion oncogenes; chromosome translocation; MYB; NFIB; CRTC1; MAML2; salivary gland; breast; adenoid cystic carcinoma; mucoepidermoid carcinoma; hidradenoma;

   Sammanfattning : Cancer is a genetic disease caused by the accumulation of genetic changes such as mutations and chromosomal rearrangements. An increasing number of genetic studies of both hematological and solid neoplasms have shown that recurrent chromosome translocations often result in fusion oncogenes. LÄS MER