Results 11 to 20 of about 1,738 (148)

DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia

Human Molecular Genetics, 1995
The identification of the BTK (Bruton's tyrosine kinase) gene defective in human immunoglobulin deficiency X-linked agammaglobulinaemia (XLA) and characterisation of BTK exon-intron boundaries has now allowed the analysis of mutations and polymorphisms at the level of genomic DNA.
Vorechovský, I, Vihinen, M, de Saint Basile, G, Honsová, S, Hammarström, L, Müller, S, Nilsson, L, Fischer, A, Smith, C   +8 more
openaire   +4 more sources

Bruton's tyrosine kinase is present in normal platelets and its absence identifies patients with X‐linked agammaglobulinaemia and carrier females [PDF]

British Journal of Haematology, 2001
X‐linked agammaglobulinaemia (XLA) is a primary immunodeficiency caused by mutations in the gene coding for Bruton's tyrosine kinase (Btk) and is characterized by an arrest of B‐cell development. We analysed Btk protein expression in platelets using flow cytometry and found that normal platelets express large amounts of Btk.
T, Futatani, C, Watanabe, Y, Baba, S, Tsukada, H D, Ochs   +4 more
openaire   +3 more sources

Mutations of Bruton's tyrosine kinase gene in Brazilian patients with X-linked agammaglobulinemia [PDF]

, 2010
Mutations in Bruton's tyrosine kinase (BTK) gene are responsible for X-linked agammaglobulinemia (XLA), which is characterized by recurrent bacterial infections, profound hypogammaglobulinemia, and decreased numbers of mature B cells in peripheral blood.
OLIVEIRA JÚNIOR, E.B., RAMALHO, V.D., ROXO JÚNIOR, P., TANI, S.M., VILELA, M.M.S.   +4 more
core   +6 more sources

Safety, pharmacokinetics and pharmacodynamics of BI 705564, a highly selective, covalent inhibitor of Bruton's tyrosine kinase, in Phase I clinical trials in healthy volunteers

British Journal of Clinical Pharmacology, Volume 87, Issue 4, Page 1824-1838, April 2021., 2021
Aims To evaluate the safety, pharmacokinetics and pharmacodynamics of single‐ and multiple‐rising doses (MRDs) of BI 705564 and establish proof of mechanism. Methods BI 705564 was studied in 2 placebo‐controlled, Phase I clinical trials testing single‐rising doses (1–160 mg) and MRDs (1–80 mg) of BI 705564 over 14 days in healthy male volunteers. Blood
Tobias Litzenburger, Jürgen Steffgen, Ewald Benediktus, Fabian Müller, Armin Schultz, Elliott Klein, Meera Ramanujam, Christian Harcken, Alpana Gupta, Jing Wu, Sabrina Wiebe, Xiujiang Li, Mary Flack, Steven J. Padula, Sudha Visvanathan, Andreas Hünnemeyer, Jianan Hui   +16 more
wiley   +1 more source

A novel gene mutation, c.82delC (p.Arg28 Alafs5), in a Korean family with X-linked agammaglobulinemia [PDF]

Korean Journal of Pediatrics, 2016
X-linked agammaglobulinemia (XLA) is a hereditary humoral immunodeficiency that results from Bruton’s tyrosine kinase (BTK) gene mutations. These mutations cause defects in B-cell development, resulting in the virtual absence of these lymphocytes from ...
Jeongeun Lee, Minhee Rhee, Taek Ki Min, Hae In Bang, Mi-Ae Jang, Eun-Suk Kang, Hee-Jin Kim, Hyeon-Jong Yang, Bok Yang Pyun   +8 more
doaj   +1 more source

ANKRD54 preferentially selects Bruton's Tyrosine Kinase (BTK) from a Human Src-Homology 3 (SH3) domain library [PDF]

, 2017
Bruton's Tyrosine Kinase (BTK) is a cytoplasmic protein tyrosine kinase with a fundamental role in B-lymphocyte development and activation. The nucleocytoplasmic shuttling of BTK is specifically modulated by the Ankyrin Repeat Domain 54 (ANKRD54) protein
A Ceol, a Musacchio, A Takesono, A Wilkie, AG Allgood, AJ Mohamed, AL Samuels, B Asbach, Beston F. Nore, BF Nore, BF Nore, BK Kay, C. I. Edvard Smith, CI Smith, CIE Smith, Dara K. Mohammad, DJ Rawlings, DJ Reiss, DK Mohammad, DM Berry, Erkko Ylösmäki, H Hansson, H Park, H Yu, Hyunseok Choi, I Kleino, JM Bradshaw, JM Lindvall, K Saksela, Kalle Saksela, L Mosavi, LK Mosavi, M Schwarten, Manuela Helmer-Citterich, Manuela O. Gustafsson, MO Gustafsson, Qing Wang, RG Parra, RR Bartelt, RW Hendriks, S Kärkkäinen, S Tsukada, SG Sedgwick, SME Truhlar, Subhash Shrestha, T Kurosaki   +45 more
core   +16 more sources

B cell signalling pathways—New targets for precision medicine in chronic lymphocytic leukaemia

Scandinavian Journal of Immunology, Volume 92, Issue 5, November 2020., 2020
Abstract The B cell receptor (BCR) is a master regulator of B cells, controlling cellular processes such as proliferation, migration and survival. Cell signalling downstream of the BCR is aberrantly activated in the B cell malignancy chronic lymphocytic leukaemia (CLL), supporting the pathophysiology of the disease.
Sigrid S. Skånland, Linda Karlsen, Kjetil Taskén   +2 more
wiley   +1 more source

Inhibition of Bruton's TK regulates macrophage NF‐κB and NLRP3 inflammasome activation in metabolic inflammation

British Journal of Pharmacology, Volume 177, Issue 19, Page 4416-4432, October 2020., 2020
Background and Purpose There are no medications currently available to treat metabolic inflammation. Bruton's tyrosine kinase (BTK) is highly expressed in monocytes and macrophages and regulates NF‐κB and NLRP3 inflammasome activity; both propagate metabolic inflammation in diet‐induced obesity.
Gareth S.D. Purvis, Massimo Collino, Haidee Aranda‐Tavio, Fausto Chiazza, Caroline E. O'Riordan, Lynda Zeboudj, Shireen Mohammad, Debora Collotta, Roberta Verta, Nicolas E.S. Guisot, Peter Bunyard, Magdi M. Yaqoob, David R. Greaves, Christoph Thiemermann   +13 more
wiley   +1 more source

Persisting SARS‐CoV‐2 viraemia after rituximab therapy: two cases with fatal outcome and a review of the literature

British Journal of Haematology, Volume 190, Issue 2, Page 185-188, July 2020., 2020
Summary SARS‐CoV‐2 infection can cause severe pneumonia (COVID‐19). There is evidence that patients with comorbidities are at higher risk of a severe disease course. The role of immunosuppression in the disease course is not clear. In the present report, we first describe two cases of persisting SARS‐CoV‐2 viraemia with fatal outcome in patients after ...
Phil‐Robin Tepasse, Wali Hafezi, Mathias Lutz, Joachim Kühn, Christian Wilms, Rainer Wiewrodt, Jan Sackarnd, Martin Keller, Hartmut H. Schmidt, Richard Vollenberg   +9 more
wiley   +1 more source

Autologous non‐human primate model for safety assessment of piggyBac transposon‐mediated chimeric antigen receptor T cells on granulocyte–macrophage colony‐stimulating factor receptor

Clinical &Translational Immunology, Volume 9, Issue 11, 2020., 2020
We pre‐clinically evaluated the safety of granulocyte–macrophage colony‐stimulating factor (GMCSF) receptor (GMR)–chimeric antigen receptor (CAR) T cells. For this purpose, we used a novel immunocompetent non‐human primate (NHP) model, established using bioengineered cynomolgus T cells expressing CAR‐T molecules redirected against the GMR by piggyBac ...
Hirokazu Morokawa, Shigeki Yagyu, Aiko Hasegawa, Miyuki Tanaka, Shoji Saito, Hidemi Mochizuki, Kengo Sakamoto, Akihito Shimoi, Yozo Nakazawa   +8 more
wiley   +1 more source