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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.

    https://www.ucl.ac.uk/mbphd/current-students-and-alumni/hartington-thomas

  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.

    https://www.ucl.ac.uk/infection-immunity/people/dr-siobhan-burns

  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

    http://iris.ucl.ac.uk/iris/publication/1777345/1

  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.

    https://www.ucl.ac.uk/immunity-transplantation/people/siobhan-burns

  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

    http://iris.ucl.ac.uk/iris/publication/1540381/1

  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

    http://iris.ucl.ac.uk/iris/publication/1405682/7

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

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

    https://www.ucl.ac.uk/cardiovascular/research/pre-clinical-and-fundamental-science
    /functional-gene-annotation/cardiovascular-gene

  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

    http://iris.ucl.ac.uk/iris/publication/1857758/7

  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

    http://iris.ucl.ac.uk/iris/publication/1561292/7

  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

    http://iris.ucl.ac.uk/iris/publication/907019/2

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