Results 41 to 50 of about 23,374 (217)

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

Molecular 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.
Tammarah Sklarz, Stephanie N. Hurwitz, Natasha L. Stanley, Jane Juusola, Adam Bagg, Daria Babushok   +5 more
openaire   +2 more sources

A Pathogenic Missense Variant in NFKB1 Causes Common Variable Immunodeficiency Due to Detrimental Protein Damage

Frontiers in Immunology, 2021
In common variable immunodeficiency (CVID), heterozygous damaging NFKB1 variants represent the most frequent monogenic cause. NFKB1 encodes the precursor p105, which undergoes proteasomal processing to generate the mature NF-κB transcription factor ...
Manfred Fliegauf, Manfred Fliegauf, Renate Krüger, Sophie Steiner, Leif Gunnar Hanitsch, Sarah Büchel, Volker Wahn, Horst von Bernuth, Horst von Bernuth, Horst von Bernuth, Bodo Grimbacher, Bodo Grimbacher, Bodo Grimbacher, Bodo Grimbacher   +13 more
doaj   +1 more source

NFKB1 Promoter DNA from nt+402 to nt+99 Is Hypomethylated in Different Human Immune Cells. [PDF]

PLoS ONE, 2016
Sepsis, with a persistently high 90-day mortality of about 46%, is the third most frequent cause of death in intensive care units worldwide. Further understanding of the inflammatory signaling pathways occurring in sepsis is important for new efficient ...
Matthias Unterberg, Maxmiliane Julia Kreuzer, Simon Thomas Schäfer, Zainab Bazzi, Michael Adamzik, Katharina Rump   +5 more
doaj   +1 more source

RNA Sequencing Reveals a Role of TonEBP Transcription Factor in Regulation of Pro-inflammatory Genes in Response to Hyperosmolarity in Healthy Nucleus Pulposus Cells: A HOMEOSTATIC RESPONSE? [PDF]

, 2016
Transcription factor tonicity-responsive enhancer-binding protein (TonEBP/NFAT5) is critical for osmo-adaptation and extracellular matrix homeostasis of nucleus pulposus (NP) cells in their hypertonic tissue niche.
Johnson, Zariel I., Risbud, Makarand V., Shapiro, Irving M.   +2 more
core   +2 more sources

Functional promoter -94 ins/del ATTG polymorphism in NFKB1 gene is associated with bladder cancer risk in a Chinese population. [PDF]

PLoS ONE, 2013
BACKGROUND: A functional -94 insertion/deletion polymorphism (rs28362491) in the promoter of the NFKB1 gene was reported to influence NFKB1 expression and confer susceptibility to different types of cancer.
Pengchao Li, Jinbao Gu, Xiao Yang, Hongzhou Cai, Jun Tao, Xuejian Yang, Qiang Lu, Zengjun Wang, Changjun Yin, Min Gu   +9 more
doaj   +1 more source

Ebola virus VP35 induces high-level production of recombinant TPL-2–ABIN-2–NF-κB1 p105 complex in co-transfected HEK-293 cells [PDF]

, 2013
Activation of PKR (double-stranded-RNA-dependent protein kinase) by DNA plasmids decreases translation, and limits the amount of recombinant protein produced by transiently transfected HEK (human embryonic kidney)-293 cells.
Apostolaki, Baldi, Beinke, Beinke, Beinke, Beinke, Beinke, Belich, Bouwmeester, Ciechanover, Cohen, Coope, Costa, Dauber, Dumitru, Durocher, Elke MÜHLBERGER, Feng, Gantke, Geisse, George, Gray, Jia, Jia, Julia Janzen, Kabouridis, Kaufman, Lang, Liu, Nicholas A. Morrice, Papoutsopoulou, Pomerantz, Robinson, Roget, Sabrina Boussouf, Salmeron, Salmeron, Savinova, Schlaeger, Schumann, Steven Howell, Steven C. Ley, Thorsten Gantke, Waterfield, Waterfield, Wu, Yang, Zhao   +47 more
core   +1 more source

Functional polymorphism of the NFKB1 gene promoter is related to the risk of dilated cardiomyopathy

BMC Medical Genetics, 2009
Background Previous studies in experimental and human heart failure showed that nuclear factor kappa B (NF-κB) is chronically activated in cardiac myocytes, suggesting an important involvement of NF-κB in the cardiac remodeling process.
Song Yaping, Xue Hui, Chen Yu, Gao Linbo, Li Yi, Wang Yanyun, Peng Ying, Rao Li, Zhou Bin, Liao Miao, Zhang Lin   +10 more
doaj   +1 more source

The promoter regions of intellectual disability-associated genes are uniquely enriched in LTR sequences of the MEr41 primate-specific endogenous retrovirus: An evolutionary connection between immunity and cognition [PDF]

, 2019
The Supplementary Material for this article can be found online at: https://www.frontiersin.org/articles/10.3389/fgene.2019.00321/full#supplementary-materialSocial behavior and neuronal connectivity in rodents have been shown to be shaped by the ...
Benítez Burraco, Antonio, Nataf, Serge, Uriagereka, Juan   +2 more
core   +5 more sources

NFKB1 and MANBA Confer Disease Susceptibility to Primary Biliary Cholangitis via Independent Putative Primary Functional VariantsSummary

Cellular and Molecular Gastroenterology and Hepatology, 2019
Background & Aims: Primary biliary cholangitis (PBC) is a chronic and cholestatic liver disease that eventually leads to cirrhosis and hepatic failure. We recently identified several susceptibility genes included NFKB1 and MANBA for PBC in the Japanese ...
Yuki Hitomi, Ken Nakatani, Kaname Kojima, Nao Nishida, Yosuke Kawai, Minae Kawashima, Yoshihiro Aiba, Masao Nagasaki, Minoru Nakamura, Katsushi Tokunaga   +9 more
doaj   +1 more source

Transcription Factor Binding Site Enrichment Analysis In Co-Expression Modules In Celiac Disease [PDF]

, 2018
The aim of this study was to construct celiac co-expression patterns at a whole genome level and to identify transcription factors (TFs) that could drive the gliadin-related changes in coordination of gene expression observed in celiac disease (CD ...
Bilbao Catalá, José Ramón, Cros, Marie-Pierre, Fernández Jiménez, Nora, García Etxebarria, Koldo, Herceg, Zdenko, Hernández Vargas, Hector, Irastorza Terradillos, Iñaki Xarles, Jauregi Miguel, Amaia, Legarda Tamara, María, Plaza Izurieta, Leticia, Romero Garmendia, Irati, Santín Gómez, Izortze   +11 more
core   +3 more sources