Sökning: "3 Untranslated Regions genetics"

Visar resultat 1 - 5 av 6 avhandlingar innehållade orden 3 Untranslated Regions genetics.

  1. 1. Familial amyloidosis with polyneuropathy : studies of genetic factors modifying the phenotype of the disease

    Författare :Malin Olsson; Ole B Suhr; Lisbeth Tranebjærg; Umeå universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Familial amyloid polyneuropathy; Amyloidosis; Transthyretin; Allele Frequency; Mitochondria; parent-of-origin; MicroRNA; Single Nucleotide Polymorphism; 3 Untranslated Regions genetics; Medical genetics; Medicinsk genetik; Clinical genetics; Klinisk genetik; genetik; Genetics; klinisk genetik; Clinical Genetics; medicin; Medicine;

    Sammanfattning : Background. Familial Amyloidosis with Polyneuropathy (FAP) is an autosomal dominantly inherited systemic amyloid disease. The disease is caused by mutations in the transthyretin (TTR) gene, where close to 100 different amyloidogenic mutations have been identified. LÄS MER

  3. 2. Genetic Studies of Immunological Diseases in Dogs and Humans

    Författare :Matteo Bianchi; Gerli Rosengren Pielberg; Marta Alarcón-Riquelme; Uppsala universitet; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; complex disease; immunogenetics; autoimmunity; GWAS; NGS; canine model; dog; hypothyroidism; Addison s disease; IFNA; BACH2; Medical Genetics; Medicinsk genetik;

    Sammanfattning : This thesis presents genetic studies aiming at enlarging our knowledge regarding the genetic factors underlying two immune-mediated diseases, hypothyroidism and autoimmune Addison’s disease (AAD), in dogs and humans, respectively.Genetic and environmental factors are indicated to contribute to canine hypothyroidism, which can be considered a model for human Hashimoto’s thyroiditis (HT). LÄS MER

  4. 3. CYTOGENETIC AND MOLECULAR GENETIC CHARACTERIZATION OF LIPOMAS

    Författare :Hammurabi Bartuma; Avdelningen för klinisk genetik; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; soft tissue tumors; adipocytic tumors; conventional lipomas; spindle cell lipoma; HMGA2; cytogenetic; molecular genetic; SNP array; GGE;

    Sammanfattning : The focus of this thesis was to study cytogenetic and molecular genetic aberrations in lipomas. For this purpose, chromosome banding analysis, fluorescence in situ hybridization (FISH), as well as high resolution single nucleotide polymorphism (SNP)–arrays were used to identify recurrent chromosomal aberrations in lipomas. LÄS MER

  5. 4. B cell transcriptomics and immunoglobulin genetics in rheumatoid arthritis

    Författare :Uta Hardt; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Rheumatoid Arthritis (RA) is a complex autoimmune disease characterized by inflammation of the peripheral joints. The exact disease pathology remains to be elucidated, but it has been hypothesized that autoreactive B cells and autoantibodies play a major role in the etiology. LÄS MER

  7. 5. Translational studies on bipolar disorder and anorexia nervosa

    Författare :Vincent Millischer; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Translational medicine aims at closing the gap between basic and clinical sciences in an integrative way. Psychiatry is one of the few medical specialties in which diagnosis is primarily based on clinical observation and all mental disorders are defined by abnormal behaviors and cognitions. LÄS MER