Results 11 to 20 of about 1,738 (143)

The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases [PDF]

Nature, 1993
X-linked agammaglobulinaemia (XLA) is a human immunodeficiency caused by failure of pre-B cells in the bone marrow to develop into circulating mature B cells. A novel gene has been isolated which maps to the XLA locus, is expressed in B cells, and shows mutations in families with the disorder.
Vetrie, David, Vorechovsky, Igor, Sideras, Paschalis, Holland, Jill, Davies, Angela, Flinter, Frances, Hammarström, Lennart, Kinnon, Christine, Levinsky, Roland, Bobrow, Martin, Smith, C. I. Edvard, Bentley, David R.   +11 more
exaly   +6 more sources

Structure of the PH domain and Btk motif from Bruton's tyrosine kinase: molecular explanations for X-linked agammaglobulinaemia [PDF]

The EMBO Journal, 1997
Bruton's tyrosine kinase (Btk) is an enzyme which is involved in maturation of B cells. It is a target for mutations causing X-linked agammaglobulinaemia (XLA) in man. We have determined the structure of the N-terminal part of Btk by X-ray crystallography at 1.6 A resolution.
M, Hyvönen, M, Saraste
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   +4 more sources

Naturally occurring Bruton's tyrosine kinase mutations have no dominant negative effect in an X-linked agammaglobulinaemia cellular model

Clinical and Experimental Immunology, 2008
Summary X-linked agammaglobulinaemia (XLA) is characterized by absence of mature B cells because of mutations in the Bruton's tyrosine kinase (Btk) gene. Btk-deficient early B cell precursors experience a block in their differentiation potentially reversible by the addition of an intact Btk gene.
R, Pérez de Diego, E, López-Granados, J, Rivera, A, Ferreira, G, Fontán, J, Bravo, M C, García Rodríguez, S, Bolland   +7 more
openaire   +5 more sources

Bruton's tyrosine kinase defect in dendritic cells from X-linked agammaglobulinaemia patients does not influence their differentiation, maturation and antigen-presenting cell function [PDF]

Clinical and Experimental Immunology, 2003
SUMMARYX-linked agammaglobulinaemia (XLA) is a primary immunodeficiency disease characterized by very low levels or even absence of circulating antibodies. The immunological defect is caused by deletions or mutations of Bruton's tyrosine kinase gene (Btk), whose product is critically involved in the maturation of pre-B lymphocytes into mature B cells ...
Gagliardi, MC, FINOCCHI, ANDREA, Orlandi, P, Cursi, L, CANCRINI, CATERINA, MOSCHESE, VIVIANA, Miyawaki, T, ROSSI, PAOLO   +7 more
openaire   +6 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

Identification of novel Bruton's tyrosine kinase mutations in 10 unrelated subjects with X linked agammaglobulinaemia. [PDF]

Journal of Medical Genetics, 1997
Mutations of the Bruton's tyrosine kinase (Btk) gene cause X linked agammaglobulinaemia (XLA). This inherited immunodeficiency disease causes an arrest in B cell differentiation of pre-B cells to mature B cells. In this study we report the characterisation of mutations in the Btk gene in 10 unrelated XLA families.
Brooimans, R.A., Berg, A.J.A.M. van den, Rijkers, G.T., Sanders, L.A.M., Ploos van Amstel, J.K., Tilanus, M.G.J., Grubben, M.J.A.L., Zegers, B.   +7 more
openaire   +4 more sources

Identification of nine novel mutations in the Bruton's tyrosine kinase gene in X-linked agammaglobulinaemia patients [PDF]

Human Mutation, 2000
Mutations in the Bruton's tyrosine kinase (BTK ) gene are responsible for X-linked Agammaglobulinemia (XLA), an immunodeficiency caused by a block in B cell differentiation. Non Isotopic RNAse Cleavage Assay (NIRCA), followed by sequencing was used to screen for BTK mutations in 11 Italian XLA patients. Nine novel mutations were identified: 6 missense (
Orlandi, P, Ritis, K, MOSCHESE, VIVIANA, ANGELINI, FEDERICA, Arvanitidis, K, Speletas, M, Sideras, P, Plebani, A, ROSSI, PAOLO   +8 more
openaire   +3 more sources

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