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Visar resultat 1 - 5 av 7 avhandlingar som matchar ovanstående sökkriterier.

1. 1. Murine Systemic Lupus erythematosus : cellular regulation and molecular mechanisms behind the formation of autoantibodies in autoimmune disease

   Författare :Marta E. Alarcón-Riquelme; Stockholms universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Cytologi; Cellbiologi; Immunologi;

   Sammanfattning : .... LÄS MER

3. 2. Genetic Risk Factors for Systemic Lupus Erythematosus : From Candidate Genes to Functional Variants

   Författare :Anna-Karin Abelson; Marta Alarcón-Riquelme; Holger Luthman; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Systemic Lupus Erythematosus; SLE; association study; complex disease; genetic; Medical genetics; Medicinsk genetik;

   Sammanfattning : The aim of this thesis has been to identify genetic variants that increase the susceptibility for Systemic Lupus Erythematosus (SLE), an autoimmune disease caused by a complex interplay between various genetic and environmental factors. Five different candidate genes were selected through different strategies, and were analysed for association with SLE in an attempt to distinguish some of the underlying mechanisms of this disease. LÄS MER

4. 3. 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

5. 4. Dissecting the Genetic Basis of Systemic Lupus Erythematosus : The Pursuit of Functional Variants

   Författare :Angélica María Delgado Vega; Ulf Gyllensten; Marta E. Alarcon-Riquelme; Jane Worthington; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; Systemic Lupus Erythematosus; SLE; Genetic Mapping; Association Studies; Functional Variants; TNFSF4; STAT4; IRF5; CD226; BLK; BANK1; Systemisk Lupus Erythematosus; SLE; Genetik; Genetisk Association; Funktionella Varianter; TNFSF4; STAT4; IRF5; CD226; BLK; BANK1; Lupus Eritematoso Sistémico; LES; Estudios de Asociación Genética; Variantes Funcionales; TNFSF4; STAT4; IRF5; CD226; BLK; BANK1; Medical Genetics; Medicinsk genetik; Medical Science; Medicinsk vetenskap;

   Sammanfattning : Systemic lupus erythematosus (SLE) is a chronic and systemic autoimmune disease that primarily affects women during the childbearing years. SLE is characterized by the production of autoantibodies against nucleic acids and their interacting proteins. LÄS MER

7. 5. Exploring the Genetics of SLE with Linkage and Association Analysis

   Författare :Cecilia Johansson; Marta Alarcón-Riquelme; Peter Gregersen; Uppsala universitet; []
   Nyckelord :NATURVETENSKAP; NATURAL SCIENCES; Molecular genetics; Systemic lupus erythematosus; complex disease; linkage analysis; association analysis; Genetik; Genetics; Genetik;

   Sammanfattning : The aim with this thesis has been to identify genes involved in the pathogenesis of Systemic Lupus Erythematosus (SLE). SLE is a systemic autoimmune disorder, most likely caused by both several genetic and environmental factors. LÄS MER