Search for dissertations about: "Juha Kere"

Found 4 swedish dissertations containing the words Juha Kere.

2. 1. Genetic and Molecular Studies of Two Hereditary Skin Disorders

   Author : Johanna Dahlqvist; Niklas Dahl; Anders Vahlquist; Juha Kere; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Monogenic disorder; autosomal recessive congenital ichthyosis; KLICK syndrome; Ichthyin; POMP; proteasome; epidermal differentiation; Clinical genetics; Klinisk genetik; Clinical Genetics; Klinisk genetik;

   Abstract : Monogenic disorders, i.e., disorders caused by mutations in a single gene, are rare and clinically heterogeneous conditions. Identification of the genetic cause of monogenic traits can bring new insights into molecular pathways and disease mechanisms. READ MORE

4. 2. Analysis of Genetic Alterations in Patients Affected with Neurofibromatosis Type 2 and its Associated Tumors

   Author : Caisa Marie Hansson; Jan P. Dumanski; Juha Kere; Uppsala universitet; []
   Keywords : NATURVETENSKAP; NATURAL SCIENCES; Molecular biology; Neurofibromatosis type 2; schwannoma; schwannomatosis; meningioma; array-CGH; chromosome 22; DNA copy number variation; methylation; Molekylärbiologi; Molecular biology; Molekylärbiologi;

   Abstract : Neurofibromatosis type 2 (NF2) is an autosomal dominant disorder with the clinical hallmark of bilateral vestibular schwannomas (VS). Patients affected by a severe NF2 phenotype also presents with peripheral schwannomas, meningiomas and ependymomas. The closely related disorder schwannomatosis also displays multiple schwannomas, but never VS. READ MORE

5. 3. Identification of Candidate Genes in Four Human Disorders

   Author : Malin Melin; Niklas Dahl; Anders Isaksson; Juha Kere; Uppsala universitet; []
   Keywords : Genetics; Ichthyosis; Leukodystrophy; Kostmann disease; Autism; Genetic disorders; Candidate gene; Genetik;

   Abstract : The aim of this thesis has been to identify genes and gene regions underlying four different disorders. In papers I-IV, positional cloning methods, such as linkage, association and haplotype analysis have been used for the identification of genomic regions associated with the ichthyosis prematurity syndrome (IPS), adult-onset autosomal dominant leukodystrophy (ADLD) and Kostmann disease. READ MORE

6. 4. Strategies for Identification of Susceptibility Genes in Complex Autoimmune Diseases

   Author : Ludmila Prokunina; Marta Alarcon-Riquelme; Ulf Gyllensten; Juha Kere; Uppsala universitet; []
   Keywords : MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Genetics; complex diseases; autoimmune diseases; genetic mapping; functional studies; Genetik; Clinical genetics; Klinisk genetik;

   Abstract : Systemic lupus erythematosus (SLE) and rheumatoid arthritis (RA) are complex autoimmune diseases affecting 0.05-2% of the population worldwide. Genetic studies detected linkage with SLE in the 2q37 region, and intensive family-based and case-control association studies in several populations identified that allele A of the SNP PD-1. READ MORE