Sökning: "BLK"

Visar resultat 1 - 5 av 6 avhandlingar innehållade ordet BLK.

  1. 1. 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

  3. 2. FAM167A-BLK is a susceptibility locus in autoimmune diseases : characterization of the FAM167 gene family

    Författare :Lara Mentlein; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Autoimmune diseases are complex multifactorial diseases, and their pathogenesis is only partially understood, but both genetic, as well as environmental factors, have been correlated to an increased risk for the diseases. Genome-wide association studies of Sjögren’s syndrome, systemic lupus erythematosus, and rheumatoid arthritis have identified many risk loci; most studies include associations to the FAM167A-BLK locus. LÄS MER

  4. 3. Gene regulation by Early B-cell Factor (EBF)

    Författare :Peter Åkerblad; Immunologi; []
    Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; serology; Immunology; B-lymphocytes; Differentiation; Transcription; EBF; Gene regulation; transplantation; Immunologi; serologi;

    Sammanfattning : In this study we aimed at defining genes that are controlled by Early B-cell Factor (EBF), that could explain the severe block in B-cell development observed in EBF-/- mice. The fact that EBF appears to be important for the transcriptional control of genes encoding proteins in the pre-B and B-cell receptor complex implied to us that EBF could be a common regulator of other components in the pre-B and B-cell receptor. LÄS MER

  5. 4. Susceptibility genes in systemic lupus erythematosus

    Författare :Anna Hellquist; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Systemic lupus erythematosus (SLE) is a complex autoimmune disease for which the incidence and prevalence vary between populations and also between males and females. SLE is characterized by production of pathogenic autoantibodies against nuclear antigens due to a breakdown in self-tolerance and the pathogenesis is associated with the formation of immune complexes, followed by tissue inflammation in multiple organs, such as the skin, joints, heart and kidneys. LÄS MER

  7. 5. Pathophysiological mechanisms and clinical manifestations in primary Sjögren’s syndrome and Systemic lupus erythematosus (SLE)

    Författare :Marika Kvarnström; Karolinska Institutet; Karolinska Institutet; []
    Nyckelord :;

    Sammanfattning : Primary Sjögren’s syndrome (pSS) is a systemic inflammatory autoimmune condition. The etiology of pSS is mainly unknown, but it has been suggested that environmental factors trigger an immune response in genetically susceptible individuals. LÄS MER