Sökning: "BANK1"

Visar resultat 1 - 5 av 6 avhandlingar innehållade ordet BANK1.

1. 1. Lupus Nephritis – Genetic Impact on Clinical Phenotypes, Disease Severity and Renal Outcome

   Författare :Karin Bolin; Gunnel Nordmark; Lars Rönnblom; Inger Gjertsson; Uppsala universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; Systemic Lupus Erythematosus; Nephritis; Lupus Nephritis; Genetics; STAT4; BANK1; C1q Deficiency; Renal Insufficiency; End-Stage Renal Disease; Sex Differences; Medicinsk vetenskap; Medical Science;

   Sammanfattning : Systemic lupus erythematosus (SLE) is an autoimmune inflammatory disease that can affect every organ system. Lupus nephritis (LN) is one of the more serious SLE manifestations. Whilst the genetic background of SLE has been thoroughly investigated, less is known about the background of LN. LÄS MER

3. 2. 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

4. 3. Identification of candidate genes involved in Mercury Toxicokinetics and Mercury Induced Autoimmunity

   Författare :Hammoudi Alkaissi; Per Hultman; Said Havarinasab; Peter Söderkvist; Jesper Bo Nielsen; Johan Rönnelid; Linköpings universitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; NATURVETENSKAP; NATURAL SCIENCES;

   Sammanfattning : BACKGROUND: Autoimmune diseases require the involvement and activation of immune cells and occur when the body builds up an immune response against its own tissues. This process takes place due to the inability to distinguish self-antigen from foreign antigen. Systemic autoimmunity represents an important cause of morbidity and mortality in humans. LÄS MER

5. 4. 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

7. 5. Discovery of a novel pathway for an SLE-related disease complex in the canine breed Nova Scotia duck tolling retriever

   Författare :Maria Wilbe; Sveriges lantbruksuniversitet; Sveriges lantbruksuniversitet; []
   Nyckelord :MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES; NATURVETENSKAP; NATURAL SCIENCES; MEDICIN OCH HÄLSOVETENSKAP; MEDICAL AND HEALTH SCIENCES;

   Sammanfattning : The dog is an excellent model to study inherited complex diseases, due to its unique population history and haplotype structure. In this thesis, dogs from the breed Nova Scotia duck tolling retriever (NSDTR) have been used as a model for defining the genetic factors controlling a systemic lupus erythematosus (SLE)-related disorder called immune-mediated rheumatic disease (IMRD) and a steroid responsive meningitis-arteritis (SRMA). LÄS MER