Results 61 to 70 of about 20,241 (230)
Detrimental NFKB1 missense variants affecting the Rel-homology domain of p105/p50
Frontiers in Immunology, 2022 Most of the currently known heterozygous pathogenic NFKB1 (Nuclear factor kappa B subunit 1) variants comprise deleterious defects such as severe truncations, internal deletions, and frameshift variants. Collectively, these represent the most frequent monogenic cause of common variable immunodeficiency (CVID) identified so far.Manfred Fliegauf, Manfred Fliegauf, Matias Kinnunen, Sara Posadas-Cantera, Nadezhda Camacho-Ordonez, Nadezhda Camacho-Ordonez, Hassan Abolhassani, Hassan Abolhassani, Laia Alsina, Laia Alsina, Faranaz Atschekzei, Faranaz Atschekzei, Delfien J. Bogaert, Delfien J. Bogaert, Siobhan O. Burns, Siobhan O. Burns, Joseph A. Church, Gregor Dückers, Alexandra F. Freeman, Lennart Hammarström, Leif Gunnar Hanitsch, Tessa Kerre, Robin Kobbe, Svetlana O. Sharapova, Kathrin Siepermann, Carsten Speckmann, Carsten Speckmann, Sophie Steiner, Nisha Verma, Jolan E. Walter, Jolan E. Walter, Jolan E. Walter, Emma Westermann-Clark, Emma Westermann-Clark, Sigune Goldacker, Sigune Goldacker, Klaus Warnatz, Klaus Warnatz, Markku Varjosalo, Markku Varjosalo, Markku Varjosalo, Bodo Grimbacher, Bodo Grimbacher, Bodo Grimbacher, Bodo Grimbacher +44 moreopenaire +8 more sourcesGenome-wide association and HLA fine-mapping studies identify risk loci and genetic pathways underlying allergic rhinitis [PDF]
, 2018 Allergic rhinitis is the most common clinical presentation of allergy, affecting 400 million people worldwide, with increasing incidence in westernized countries1,2.A Kamburov, A Puel, A Ramasamy, A Subramanian, Abdel Abdellaoui, Adnan Custovic, Albert M. Levin, Alexessander C. Alves, Amalia Barreto-Luis, AN Greiner, Andre F. S. Amaral, Andreas Arnold, Angela Simpson, AO Lucas, AP Bento, Ashish Kumar, AV Segrè, B Björkstén, B Bulik-Sullivan, B Jahn-Schmid, B León, BM Javierre, BP Fairfax, C Fagnani, C Rückert, C Tian, Carlos Flores, Carol A. Wang, Carole Ober, Catharina E. M. van Beijsterveldt, CC Chang, CE Hamblet, Chao Tian, Christian Gieger, Craig E. Pennell, CV Rothlin, D Karolchik, D Szklarczyk, DA Hinds, Dan L. Nicolae, David A. Hinds, David P. Strachan, David Torrents, Deborah A. Meyers, Deborah L. Jarvis, DK Sethi, DM Anderson, Dorret I. Boomsma, E Kreiner, Elisabeth Thiering, Ellen A. Nohr, Erik Melén, Esteban G. Burchard, Eugene R. Bleecker, F Lundmark, Fabian Lorenzo-Diaz, Frank Gilliland, Franz Rüschendorf, G Cavalli, G Willemsen, Gardar Sveinbjornsson, Gonneke Willemsen, Göran Pershagen, H Gao, Hans Bisgaard, Hansjörg Baurecht, Herman T. den Dekker, HJ Westra, HM Berman, Hongsheng Gui, Ingileif Jónsdóttir, Ivan Curjuric, J Bousquet, J Cairns, J Kettunen, J Nicodemus-Johnson, J Yang, J Zheng, Jaakko Kaprio, JB Andersen, Joachim Heinrich, Johannes Waage, John A. Curtin, John Henderson, Jonathan Thorsen, Jordi Sunyer, Josep M. Antó, Josep M. Mercader, Joyce Y. Tung, JR Conway, Julia Dmitrieva, K Bønnelykke, Kamilla K. Jensen, Kari Stefansson, Klaus Bønnelykke, L Paternoster, L. Keoki Williams, Lavinia Paternoster, Leon E. Jessen, Liesbeth Duijts, LM Scott, M Böhme, M Hayashi, MA Ferreira, Manuel A. Ferreira, MAR Ferreira, Maria Pino-Yanes, Marie Standl, Marjo-Riitta Jarvelin, Markus J. Ege, Maties Torrent, MD Kassmeier, Medea Imboden, MF Moffatt, Michael Kabesch, Michel Georges, N Pearce, Natalia Hernandez-Pacheco, Nathan Schoettler, Nicole M. Probst-Hensch, Patrick Holt, Philip J. Thompson, PY Chan, R Mägi, R Roychoudhuri, R Shinnakasu, R Vita, Rachel Myers, Raquel Granell, S Bunyavanich, Scott Weiss, Shyamali C. Dharmage, Stephan Weidinger, Supinda Bunyavanich, Susanne Brix, Sílvia Bonàs-Guarch, T Lawrence, T Mori, Tarunveer S. Ahluwalia, Teemu Palviainen, TH Pers, Torben Hansen, TW Winkler, TYF Halim, UK10K Consortium., Vincent W. V. Jaddoe, W McLaren, W. James Gauderman, Wellcome Trust Case Control Consortium., X Jia, X Zheng, Xingnan Li, Y Momozawa, Young-Ae Lee, Zhanghua Chen +154 morecore +8 more sourcesThe NFKB1 polymorphism (rs4648068) is associated with the cell proliferation and motility in gastric cancer [PDF]
BMC Gastroenterology, 2015 We have demonstrated previously that NFKB1 single nucleotide polymorphism (SNP) rs4648068 GG homozygote was associated with the increased risk of gastric cancer in Chinese Han population. In this study, we constructed the recombinant plasmid pGL3-AA, pGL3-GG, pGL3-AA-NFKB and pGL3-GG-NFKB to investigate the function of rs4648068 by cell biology ...Hui Zheng, Xiang Gao, Ying Chen, Hongling Wang, Jingjing Feng, Renquan Lu, Ran Xiao, Lin Guo +7 moreopenaire +3 more sourcesNFKB1 -94ins/delATTG polymorphism is a novel prognostic marker in first line-treated multiple myeloma [PDF]
, 2015 Nuclear factor kappa B (NFKB) plays an important role in multiple myeloma (MM), and bortezomib affects this pathway. We retrospectively analysed the effect of the NFKB1 -94ins/delATTG polymorphism on the survival of 295 MM patients treated at a single ...Adam E, Andrikovics, Hajnalka, Balassa, Katalin, Koszarska M, Kozma A, Masszi, Tamás, Mikala, Gábor, Tordai, Attila, Varga, Gergely +8 morecore +1 more sourceThe c-Rel Subunit of NF-κB Regulates Epidermal Homeostasis and Promotes Skin Fibrosis in Mice [PDF]
, 2013 The five subunits of transcription factor NF-κB have distinct biological functions. NF-κB signaling is important for skin homeostasis and aging, but the contribution of individual subunits to normal skin biology and disease is unclear ...Diboll, Julie, Faini, David, Fullard, Nicola, Mann, Derek A., Moles, Anna, O'Reilly, Steven, Oakley, Fiona, Reichelt, Julia, Reynolds, Nick J., van Laar, Jacob M. +9 morecore +1 more sourceDendrimer Conjugates with PD‐L1‐Binding Peptides Enhance In Vivo Antitumor Immune Response
Advanced Healthcare Materials, EarlyView.In this paper, a novel nanoparticle scaffold composed of dendrimers conjugated with peptide‐based immune checkpoint inhibitors, enhancing drug delivery efficacy is introduced. By conjugating PD‐L1‐binding peptides to dendrimers, multivalent binding effects are harnessed, resulting in enhanced binding affinity, prolonged half‐life, and improved ...DaWon Kim, Jin Woong Lee, Piper A. Rawding, Mari Iida, Carter Kim, Kourtney L. Kostecki, Michael J. Poellmann, Bridget Crossman, Ashley S. Liu, YoungSoo Kim, Deric L. Wheeler, Seungpyo Hong +11 morewiley +1 more sourceExpression of the miR-9-5p, miR-125b-5p and its target gene NFKB1 and TRAF6 in childhood-onset systemic lupus erythematosus (cSLE)
Autoimmunity, 2022 Childhood- onset systemic lupus erythematosus (cSLE) is a multisystem inflammatory disease that can lead to severe clinical conditions resulting in early comorbidities.Denise de Queiroga Nascimento, Isaura Isabelle Fonseca Gomes da Silva, Camilla Albertina Dantas Lima, André de Souza Cavalcanti, Luciana Rodrigues Roberti, Rosane Gomes de Paula Queiroz, Virginia Paes Leme Ferriani, Sergio Crovella, Luciana Martins de Carvalho, Paula Sandrin-Garcia +9 moredoaj +1 more sourceThe combined absence of NF-kappa B1 and c-Rel reveals that overlapping roles for these transcription factors in the B cell lineage are restricted to the activation and function of mature cells [PDF]
, 2002 Transcription factors NF-KB1 and c-Rel, individually dispensable during embryogenesis, serve similar, yet distinct, roles in the function of mature hemopoietic cells.Baltimore, David, Gerondakis, Steve, Grumont, Raelene J., Gugasyan, Raffi, Metcalf, Donald, Pohl, Thomas, Sha, William, Strasser, Andreas, Tarlinton, David +8 morecore Regulation of NF-κB by PML and PML-RARα [PDF]
, 2017 Promyelocytic Leukemia (PML) is a nuclear protein that forms sub-nuclear structures termed nuclear bodies associated with transcriptionally active genomic regions. PML is a tumour suppressor and regulator of cell differentiation.Ahmed, Abrar, Carmody, Ruaidhri J., Chen, Youhai H., Keeshan, Karen, Lindsay, Andrew J., McCaffrey, Mary W., Mitxitorena, Izaskun, Pandolfi, Pier Paolo, Wan, Xiaochun +8 morecore +1 more sourcePresbycusis: Pathology, Signal Pathways, and Therapeutic Strategy
Advanced Science, EarlyView.In ARHL, the stria vascularis, acting as a cochlear battery, gradually loses its ability to maintain the endocochlear potential, leading to impaired hair cell function and progressive hearing loss. Single‐cell sequencing reveals age‐related cellular changes in the cochlea, providing insights into the underlying mechanisms of aging and potential ...Xiaoxu Zhao, Tian Shen, Shengda Cao, Ziyi Liu, Wendu Pang, Meixuan Li, Jingjing Liu, Wen Li, Yunhao Wu, Chengcheng Liu, Ming Xia, Xiaolong Fu, Cheng Cheng +12 morewiley +1 more source
