Sökning: "mutation"

Visar resultat 11 - 15 av 1258 avhandlingar innehållade ordet mutation.

1. 11. Genetics of diabetic subtypes

   Författare :Camilla Cervin; Diabetes - klinisk obesitasforskning; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Endocrinology; secreting systems; diabetology; Endokrinologi; Mutation; Association; Genetics; LADA; Diabetes; MODY; sekretion; diabetologi;

   Sammanfattning : There are two major types of diabetes mellitus, Type 1 Diabetes (T1D) and Type 2 Diabetes (T2D), however a number of subtypes have been defined and classified. Maternally Inherited Diabetes and Deafness (MIDD) and Maturity Onset Diabetes of the Young (MODY) are monogenic forms, whereas Latent Autoimmune Diabetes in Adults (LADA) is thought to be a polygenic subtype similar to T1D. LÄS MER

3. 12. On the genetics of hereditary breast/ovarian cancer. BRCA1, BRCA2 and beyond

   Författare :Annika Bergman; Göteborgs universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; BRCA1; BRCA2; breast cancer; hereditary cancer; founder mutation; mutation analysis; linkage analysis; genome scan; BRCAX;

   Sammanfattning : Breast cancer is the most common malignancy in women. Most of the breast cancers are sporadic with no apparent inheritance factor but about 5-10% is believed to be caused by an inherited predisposition. Aims: This thesis aimed at defining the BRCA1/2 mutation spectrum of the west Swedish population and specifically to characterize the BRCA1c. LÄS MER

4. 13. Resistance to activated protein C a novel risk factor for venous thrombosis

   Författare :Peter Svensson; Malmö Klinisk koagulationsmedicin; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; APC resistance; mutation; venous thrombosis; blood coagulation; Protein C; factor V; Haematology; extracellular fluids; Hematologi; extracellulära vätskor;

   Sammanfattning : Activated protein C resistance (APC resistance) is the most common hereditary condition associated with venous thrombosis. The syndrome known as APC resistance is perfectly linked to a mutation in the gene coding coagulation FV (FV:Q506) mutation changing Arg 506 to Gln in the APC cleavage site. LÄS MER

5. 14. Genetic and Clinical Investigation of Noonan Spectrum Disorders

   Författare :Sara Ekvall; Marie-Louise Bondeson; Göran Andersson; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; RASopathies; Noonan syndrome; neurofibromatosis type 1; neurofibromatosis-Noonan syndrome; RAS-MAPK pathway; mutation; Medical Science; Medicinsk vetenskap;

   Sammanfattning : Noonan spectrum disorders belong to the RASopathies, a group of clinically related developmental disorders caused by dysregulation of the RAS-MAPK pathway. This thesis describes genetic and clinical investigations of six families with Noonan spectrum disorders. LÄS MER

7. 15. Dynamics of the Bacterial Genome : Rates and Mechanisms of Mutation

   Författare :Sanna Koskiniemi; Dan Andersson; Diarmaid Hughes; Ivan Matic; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; bacteria; bacterial evolution; genome reduction; gene loss; serial passage; DNA homology; tranlesion DNA polymerase; stress; Microbiology; Mikrobiologi; Bacteriology; Bakteriologi; Evolutionary Genetics; Evolutionär genetik; Mikrobiologi; Microbiology;

   Sammanfattning : Bacterial chromosomes are highly dynamic, continuously changing with respect to gene content and size via a number of processes, including deletions that result in gene loss. How deletions form and at what rates has been the focus of this thesis. In paper II we investigated how chromosomal location affects chromosomal deletion rates in S. LÄS MER