Search for dissertations about: "deafness gene"

Showing result 1 - 5 of 8 swedish dissertations containing the words deafness gene.

2. 1. Targeting the hematopoietic stem cell to correct osteopetrosis

   Author : Carmen Flores Bjurström; Avdelningen för molekylärmedicin och genterapi; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Hematopoietic stem cells; bone marrow transplantation; gene therapy; osteoclasts; infantile malignant osteopetrosis;

   Abstract : This thesis focuses on developing stem cell targeted gene therapy for the severe hereditary disorder Infantile Malignant Osteopetrosis (IMO) as well as increasing the understanding of how the genetic defect present in IMO affects the hematopoietic stem cells and hematopoiesis in general. IMO is a rare congenital disorder associated with an increased number of non-functional osteoclasts and the absence of bone resorption results in accumulation of sclerotic bone leading to abnormal bone marrow cavity formation insufficient to support hematopoiesis. READ MORE

4. 2. Foxi1, an important gene for hearing, kidney function and male fertility

   Author : Hilmar Vidarsson; Göteborgs universitet; []
   Keywords : ;

   Abstract : Aim: In this study we focused on the biological importance of the forkhead transcription factor Foxi1. The overall aim was to elucidate the functional role of Foxi1 in the inner ear, kidney and epididymis. READ MORE

5. 3. Characterization of cochlear degeneration in the inner ear of the German waltzing guinea pig : a morphological, cellular, and molecular study

   Author : Zhe Jin; Karolinska Institutet; Karolinska Institutet; []
   Keywords : Cochlea; Deafness; Embryonic development; Inner ear; Melanocyte; Phenotype; Recessive genes; Recycling; Stria vascularis.;

   Abstract : The German waltzing guinea pig is a new strain of animals with yet unknown gene mutation(s) displaying recessively inherited cochleovestibular impairment. The homozygous animals (gw/gw) are deaf already at birth and display Wpical waltzing behavior throughout life. READ MORE

6. 4. Genetics of diabetic subtypes

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

   Abstract : 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. READ MORE

7. 5. Quantitative analysis of disease associated mutations and sequence variants

   Author : Charlotta Olsson; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; Kvantifiering; PCR-metoder; SNP; mutation; Genetik; Clinical genetics; Klinisk genetik; Molecular Medicine; molekylär medicin genetik och patologi ;

   Abstract : A solid-phase sequencing technique was applied to quantify the mitochondrial A3243G mutation in three families with maternally inherited diabetes and deafness. A correlation between the level of heteroplasmy and age at onset was found. READ MORE