Results 1 to 10 of about 23,374 (217)

The role of NFKB1 and NFKBIA in immunoglobulin A vasculitis [PDF]

open access: yesFrontiers in Immunology
IntroductionImmunoglobulin A vasculitis (IgAV) is an inflammatory disease mediated by B cells. Nuclear factor kappa B (NF-κB) is essential for B-cell development and maturation and plays a key role in autoimmunity and inflammation.
Joao Carlos Batista-Liz   +31 more
doaj   +4 more sources

Rna analysis of the regulation of expression and alternative splicing in polycystic ovarian syndrome [PDF]

open access: yesRNA Biology
Polycystic ovary syndrome (PCOS) is a complex endocrine disorder whose pathophysiological mechanisms remain incompletely understood. Alternative splicing of transcription factors (TFs) may lead to significant functional consequences in the pathogenesis ...
Qi Zhang, Shujuan Zhu, Bin Jiang
doaj   +2 more sources

Case Report: Molecular and immunological insights into primary extramedullary plasmacytoma: discovery of a novel IGH::NFKB1 fusion and its impact on disease progression and treatment [PDF]

open access: yesFrontiers in Immunology
Extramedullary Plasmacytoma (EMP) is a rare plasma cell neoplasm that originates outside the bone marrow. Primary Extramedullary Plasmacytoma with Diffuse Lymph Node Involvement (PLNEMP) is exceptionally rare.
Ziting Gao   +19 more
doaj   +2 more sources

Different genes interact with particulate matter and tobacco smoke exposure in affecting lung function decline in the general population [PDF]

open access: yes, 2012
BACKGROUND: Oxidative stress related genes modify the effects of ambient air pollution or tobacco smoking on lung function decline. The impact of interactions might be substantial, but previous studies mostly focused on main effects of single genes ...
A Comandini   +76 more
core   +23 more sources

Analytical screening of polymorphic variants of 20S proteasome genes when planning a study of pathogenetic effects of modification of NFKB1 post-translational processing

open access: yesФундаментальная и клиническая медицина, 2023
Aim. Formation of polymorphic variants panel of the proteasome genes 20S, potentially significant for the study as balance modifier factors of p105/p50 NFKB1.Materials and methods.
A. V. Meyer   +6 more
doaj   +1 more source

Common Variable Immunodeficiency and Neurodevelopmental Delay Due to a 13Mb Deletion on Chromosome 4 Including the NFKB1 Gene: A Case Report

open access: yesFrontiers in Immunology, 2022
Syndromic immunodeficiencies are a heterogeneous group of inborn errors of immunity that can affect the development of non-immune organs and systems. The genetic basis of these immunodeficiencies is highly diverse, ranging from monogenic defects to large
Clara Franco-Jarava   +27 more
doaj   +1 more source

Contribution of polymorphic variants of the NFKB1 transcription factor gene to the development of multifactorial diseases with an infammatory component

open access: yesФундаментальная и клиническая медицина, 2022
NFKB1 — a product of the same-name gene – is a transcription factor that regulates the expression of target genes which encode a wide range of proteins with properties essential for functioning of the body.
A. V. Meyer   +5 more
doaj   +1 more source

Defining the Role of Nuclear Factor (NF)-κB p105 Subunit in Human Macrophage by Transcriptomic Analysis of NFKB1 Knockout THP1 Cells

open access: yesFrontiers in Immunology, 2021
Since its discovery over 30 years ago the NF-ĸB family of transcription factors has gained the status of master regulator of the immune response. Much of what we understand of the role of NF-ĸB in immune development, homeostasis and inflammation comes ...
Domenico Somma   +4 more
doaj   +1 more source

Common variable immunodeficiency in two kindreds with heterogeneous phenotypes caused by novel heterozygous NFKB1 mutations

open access: yesFrontiers in Immunology, 2022
NFKB1 haploinsufficiengcy was first described in 2015 in three families with common variable immunodeficiency (CVID), presenting heterogeneously with symptoms of increased infectious susceptibility, skin lesions, malignant lymphoproliferation and ...
Frederik Staels   +29 more
doaj   +1 more source

Case Report: A child with NFKB1 haploinsufficiency explaining the linkage between immunodeficiency and short stature

open access: yesFrontiers in Immunology, 2023
We report the case of a patient with common variable immunodeficiency (CVID) presenting with short stature and treated with recombinant human growth hormone (rhGH).
S. Ricci   +19 more
doaj   +1 more source

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