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  1. HARTINGTON, Thomas | MBPhD Programme - UCL – University College London

    PhD title:. Investigating how genetic changes in the NFKB1 gene cause primary immunodeficiency. ... This project aims to explore the mechanism by which NFKB1 gene mutations cause PID.

  2. Dr Siobhan Burns | Division of Infection and Immunity - UCL –...

    Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans.

  3. Characterization of the clinical and immunological phenotype and management of 157...

    BACKGROUND: An increasing number of NFKB1 variants are being identified in patients with heterogeneous immunological phenotypes. OBJECTIVE: We set out to characterize the clinical and cellular phenotype as well as the management of patients with

  4. Siobhan Burns | Institute of Immunity and Transplantation - UCL –...

    Loss-of-function nuclear factor κB subunit 1 (NFKB1) variants are the most common monogenic cause of common variable immunodeficiency in Europeans.

  5. Loss of function NFKB1 variants are the most common monogenic cause of CVID in Europeans.

    The genetic etiology of primary immunodeficiency disease (PID) carries prognostic information.We conducted a whole-genome sequencing study assessing a large proportion of the NIHR-BioResource - Rare Disease cohort.In the predominantly European study

  6. Proteolysis of NF-κB1 p105 is essential for T cell antigen receptor-induced proliferation

    To investigate the importance of proteolysis of NF-κB1 p105 induced by the kinase IKK in activation of the transcription factor NF-κB, we generated 'Nfkb1 ' mice, in which the IKK-target serine residues of p105 were substituted with alanine. Nfkb1

  7. Cardiovascular Gene Annotation | UCL Institute of Cardiovascular...

    P21757. 16. NFKB1. nuclear factor kappa B subunit 1. P19838. 17.

  8. Transcriptomic Analysis of Inflammatory Cardiomyopathy Identifies Molecular Signatures of...

    Inflammatory cardiomyopathy covers a group of diseases characterized by inflammation and dysfunction of the heart muscle. The immunosuppressive agents such as prednisolone, azathioprine and cyclosporine are modestly effective treatments, but a

  9. Identification of CSK as a systemic sclerosis genetic risk factor through genome wide...

    Systemic sclerosis (SSc) is complex autoimmune disease affecting the connective tissue; influenced by genetic and environmental components. Recently, we performed the first successful genome-wide association study (GWAS) of SSc. Here, we perform a

  10. Association of genes in the NF-κB pathway with antibody-positive primary Sjögren's...

    Primary Sjögren's syndrome (SS) is a systemic autoimmune inflammatory disease characterized by focal lymphocytic infiltrates in the lachrymal and salivary glands and autoantibodies against the SSA/Ro and SSB/La antigens. Experimental studies have

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