Results 21 to 30 of about 21,043 (239)

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   +19 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

Aplastic anemia in a patient with CVID due to NFKB1 haploinsufficiency [PDF]

open access: yesMolecular Case Studies, 2020
Acquired aplastic anemia (AA) is a life-threatening bone marrow failure caused by an autoimmune cytotoxic T lymphocyte attack on hematopoietic stem and progenitor cells. Factors contributing to aberrant autoimmune activation in AA include a deficit of T regulatory cells and high levels of inflammatory cytokines.
Daria V. Babushok   +8 more
openaire   +2 more sources

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

A novel NFkB1 mutation linking pyoderma gangrenosum and common variable immunodeficiency [PDF]

open access: yesJAAD Case Reports, 2021
Pyoderma gangrenosum (PG) is a sterile neutrophilic dermatosis manifesting as painful inflammatory plaques and ulcers, frequently associated with inflammatory bowel disease, rheumatoid arthritis, myelodysplastic syndrome, and acute myeloid leukemia.1 We present a case of a young woman with a novel mutation in NFkB1 who experienced common variable ...
Ian D. Odell   +8 more
openaire   +4 more sources

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

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