Results 1 to 10 of about 20,241 (230)

Late-Onset Antibody Deficiency Due to Monoallelic Alterations in NFKB1 [PDF]

Frontiers in Immunology, 2019
Adult-onset primary immunodeficiency is characterized by recurrent infections, hypogammaglobulinemia, and poor antibody response to vaccines. In this study, we have analyzed targeted gene panel sequencing results of 270 patients diagnosed with antibody ...
Claudia Schröder, Claudia Schröder, Georgios Sogkas, Manfred Fliegauf, Manfred Fliegauf, Thilo Dörk, Di Liu, Leif G. Hanitsch, Sophie Steiner, Carmen Scheibenbogen, Roland Jacobs, Bodo Grimbacher, Bodo Grimbacher, Bodo Grimbacher, Bodo Grimbacher, Reinhold E. Schmidt, Reinhold E. Schmidt, Reinhold E. Schmidt, Reinhold E. Schmidt, Faranaz Atschekzei, Faranaz Atschekzei   +20 more
doaj   +5 more sources

The regulation of NFKB1 on CD200R1 expression and their potential roles in Parkinson's disease. [PDF]

J Neuroinflammation
Background Overactivated microglia are a key contributor to Parkinson’s disease (PD) by inducing neuroinflammation. CD200R1, a membrane glycoprotein mainly found on microglia, is crucial for maintaining quiescence with its dysregulation linked to ...
Lin S, Shu Y, Shen R, Zhou Y, Pan H, He L, Fang F, Zhu X, Wang X, Wang Y, Xu W, Ding J.   +11 more
europepmc   +4 more sources

Alternatively spliced NFKB1 transcripts enriched in Andean Aymara modulate inflammation, HIF and hemoglobin. [PDF]

Nat Commun
The molecular basis of increased hemoglobin in Andean Aymara highlanders is unknown. We conducted an integrative analysis of whole-genome-sequencing and granulocytes transcriptomics from Aymara and Europeans in Bolivia to explore genetic basis of the ...
Song J, Han S, Amaru R, Lanikova L, Quispe T, Kim D, Crawford JE, Kim SJ, Lee Y, Prchal JT.   +9 more
europepmc   +3 more sources

Transcription factor NFKB1 mediates TUBB6 to promote the proliferation and suppress apoptosis in glioma via Wnt/β-catenin signaling pathway. [PDF]

Discov Oncol
Glioma remains one of the most challenging brain tumors with poor prognosis. In this study, we aimed to elucidate the role of TUBB6 in glioma and its potential as a diagnostic and prognostic biomarker.
Li Y, Shao Z, Jiang J, Wang H, Zhang M.
europepmc   +3 more sources

NFKB1 regulates human NK cell maturation and effector functions [PDF]

Clinical Immunology, 2017
12siopenopenLougaris, Vassilios; Patrizi, Ornella; Baronio, Manuela; Tabellini, Giovanna; Tampella, Giacomo; Damiati, Eufemia; Frede, Natalie; van der Meer, Jos W.M.; Fliegauf, Manfred; Grimbacher, Bodo; Parolini, Silvia; Plebani, AlessandroLougaris ...
Baronio, M., Damiati, E., Fliegauf, M., Frede, N., Grimbacher, B., Lougaris, V., Meer, J.W.M. van der, Parolini, S., Patrizi, O., Plebani, A., Tabellini, G., Tampella, G.   +11 more
core   +8 more sources

NFKB1 and Cancer: Friend or Foe? [PDF]

Cells, 2018
Current evidence strongly suggests that aberrant activation of the NF-κB signalling pathway is associated with carcinogenesis. A number of key cellular processes are governed by the effectors of this pathway, including immune responses and ...
Julia Concetti, Caroline L. Wilson
doaj   +5 more sources

Cross-tissue transcriptome-wide association study reveals novel psoriasis susceptibility genes. [PDF]

J Transl Autoimmun
Background: Psoriasis is a chronic, immune-mediated inflammatory skin disorder with a strong genetic component. Although numerous GWAS have identified risk loci, many associated variants lie in non-coding regions, complicating functional interpretation ...
Yan F, Tao J, Liu J, Chen Y, Huang Z.
europepmc   +2 more sources

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

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   +4 more sources

A novel NFKB1 variant in a Japanese pedigree with common variable immunodeficiency

Human Genome Variation
Recently, heterozygous loss-of-function NFKB1 variants were identified as the primary cause of common variable immunodeficiency (CVID) in the European population. However, pathogenic NFKB1 variants have never been reported in the Japanese population.
Naoko Nakatani, Akihiro Tamura, Hiroaki Hanafusa, Nanako Nino, Nobuyuki Yamamoto, Hiroyuki Awano, Yasuhiro Tanaka, Naoya Morisada, Suguru Uemura, Atsuro Saito, Daiichiro Hasegawa, Kandai Nozu, Yoshiyuki Kosaka   +12 more
doaj   +3 more sources

Identification and construction of prognostic clusters and risk-prognosis model based on aging-immune related genes in bladder cancer. [PDF]

Discov Oncol
Background Faced with the current global ageing situation, advanced age has become a risk factor for bladder carcinogenesis progression and immunotherapy.
Cao N, Cheng F, Zhou J, Liu N.
europepmc   +2 more sources