Results 111 to 120 of about 23,374 (217)

Cross-tissue transcriptome-wide association study reveals novel psoriasis susceptibility genes

Journal of Translational Autoimmunity
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 ...
Fei Yan, Jing Tao, Jie Liu, Yongliang Chen, Zongju Huang   +4 more
doaj   +1 more source

The immune response mediator genes polymorphic variants as predictors of the etanercept efficacy in juvenile idiopathic arthritis

Russian Open Medical Journal, 2018
Objective ― The aim of the study was to investigate the relationship of the alleles and genotypes of the immune response mediator genes polymorphic loci (rs1800629, rs909253, rs16944, rs6822844, rs2104286, rs1800795, rs1800872, rs3087243, rs755622 ...
Liliia Sh. Nazarova, Ksenia V. Danilko, Viktor A. Malievsky, Akhat B. Bakirov, Tatiana V. Viktorova   +4 more
doaj   +1 more source

Landscape of stimulation-responsive chromatin across diverse human immune cells. [PDF]

, 2019
A hallmark of the immune system is the interplay among specialized cell types transitioning between resting and stimulated states. The gene regulatory landscape of this dynamic system has not been fully characterized in human cells.
Anderson, Mark S, Blaeschke, Franziska, Burt, Trevor D, Calderon, Diego, Criswell, Lindsey A, Gao, Ziyue, Greenleaf, William J, Kathiria, Arwa, Knowles, David A, Lescano, Ninnia, Marson, Alexander, Mezger, Anja, Müller, Fabian, Nguyen, Michelle LT, Nguyen, Vinh, Parent, Audrey V, Pritchard, Jonathan K, Ribado, Jessica V, Trombetta, John, Wu, Beijing   +19 more
core  

miR-139-5p is a regulator of metastatic pathways in breast cancer [PDF]

, 2013
Metastasis is a complex, multistep process involved in the progression of cancer from a localized primary tissue to distant sites, often characteristic of the more aggressive forms of this disease.
Cloonan, Nicole, Grimmond, Sean M., Krishnan, Keerthana, Lakhani, Sunil R., Mariasegaram, Mythily, Martin, Hilary, Nones, Katia, Pattabiraman, Diwakar R., Simpson, Peter T., Steptoe, Anita, Vlassov, Alexander, Waddell, Nicola   +11 more
core   +2 more sources

Integrative single cell RNA‐sequencing and spatial transcriptomics uncovers distinct macrophage‐fibroblast cross‐talk in human hip synovium between patients with femoroacetabular impingement and osteoarthritis

Arthritis &Rheumatology, Accepted Article.
Objectives Femoroacetabular impingement (FAI) and synovitis have been recognized as essential factors for developing osteoarthritis (OA) in the hip joints. However, little is known about altered synovial cellular compositions, their associated transcriptomic profiles, and cell‐cell interactions in FAI and hip OA.
Gulzada Kulzhanova, Alexis Klee, Mina Botros, Victoria L. Hansen, John Reuter, Eliya Tazreena Tashbib, Eloise Fadial, Benjamin F. Ricciardi, Brian Giordano, Chia‐Lung Wu   +9 more
wiley   +1 more source

OGFRL1 deficiency causes CRMO via pathological osteoclastogenesis, with therapeutic response to TNF inhibitor

Arthritis &Rheumatology, Accepted Article.
Objectives To verify the pathogenesis of the OGFRL1 loss‐of‐function variant (c.30del, p. F10Ffs*110) identified in a CRMO patient and investigate the underlying mechanism. Methods Whole exome sequencing and Sanger sequencing were performed to identify and confirm the variant.
Wen Xiong, Yusha Wang, Tingyan He, Jinjian Fu, Ying Luo, Jinbo Wang, Jun Wang, Xiaomin Yu, Qing Zhou, Jun Yang   +9 more
wiley   +1 more source

A polymorphism in NFKB1 is associated with improved effect of interferon-α maintenance treatment of patients with multiple myeloma after high-dose treatment with stem cell support

Haematologica, 2009
Background Maintenance therapy with interferon-α after high-dose treatment with stem cell support in multiple myeloma has been intensively debated. In this study, we evaluated the response to treatment with interferon-α in relation to genetic variation ...
Annette J. Vangsted, Tobias W. Klausen, Peter Gimsing, Niels F. Andersen, Niels Abildgaard, Henrik Gregersen, Ulla Vogel   +6 more
doaj   +1 more source

Truncated FOS impairs osteogenic differentiation and induces prostaglandin and NFκB signalling in an in vitro cell‐of‐origin model for osteoid osteoma and osteoblastoma

The Journal of Pathology, EarlyView.
Abstract Osteoid osteoma and osteoblastoma are non‐malignant bone‐forming tumours of the skeleton, characterised by the presence of irregular trabeculae of woven bone. Rearrangements in FOS, and less frequently FOSB, have recently been identified in osteoid osteoma and osteoblastoma.
Suk Wai Lam, Tatiana Belova, Natasja Franceschini, Brendy van den Akker, David GP van IJzendoorn, Harald MM Mikkers, Hailiang Mei, Anne‐Marie Cleton‐Jansen, Marieke L Kuijjer, Karoly Szuhai, Judith VMG Bovée   +10 more
wiley   +1 more source

NFkb1 & IL-6 im interzellulären Crosstalk von Osteoblasten und Osteoklasten

, 2017
Fragestellung: Knochenauf- und Abbau sind komplex reguliert, dabei spielt der Crosstalk, die Interaktion zwischen Osteoblasten und Osteoklasten, eine wichtige Rolle. Die Mechanismen dabei sind bisher weitgehend unbekannt, und die Rolle einer gestörten Zell-Zell-Interaktion in der Pathogenese von[zum vollständigen Text gelangen Sie über die oben ...
Randau, T, Gravius, S, Wimmer, MD, Wirtz, DC, Friedrich, M, Hilgers, C, Koob, S, Haddouti, EM   +7 more
openaire   +2 more sources

IKAROS Associated Immunodeficiency and Thrombotic Thrombocytopenic Purpura

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pathogenic variants in IKZF1 (IKAROS) are linked to immunodeficiency, malignancy, and immune dysregulation. We describe a family with a rare IKZF1 variant presenting with humoral immunodeficiency and thrombotic thrombocytopenic purpura (TTP). A non‐consanguineous family was clinically monitored; clinical, immunological, and genetic data (exome
Ilia Spivak, Daniella Magen, Karin Weiss, Tamar Paperna, Suhair Hanna, Amos Etzioni, Adi Miller‐Barmak, Yonatan Butbul Aviel   +7 more
wiley   +1 more source