Results 11 to 20 of about 174,156 (175)

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
semanticscholar   +6 more sources

Delayed diagnosis of X-linked agammaglobulinaemia in a boy with recurrent meningitis

BMC Neurology, 2019
Background X-linked agammaglobulinaemia (XLA) is a rare inherited primary immunodeficiency disease characterized by the B cell developmental defect, caused by mutations in the gene coding for Bruton’s tyrosine kinase (BTK), which may cause serious ...
Ya-Ni Zhang, Yuan-Yuan Gao, Si-Da Yang, Bin-Bin Cao, Ke-Lu Zheng, Ping Wei, Lian-Feng Chen, Wen-Xiong Chen   +7 more
doaj   +2 more sources

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

Journal of Medical Genetics, 1993
Andrew O.M. Wilkie
openaire   +4 more sources

A new case of autosomal recessive agammaglobulinaemia with impaired pre-B cell differentiation due to a large deletion of the IGH locus [PDF]

European Journal of Pediatrics, 2002
Males with X-linked agammaglobulinaemia (XLA) due to mutations in the Bruton tyrosine kinase gene constitute the major group of congenital hypogammaglobulinaemia with absence of peripheral B cells.
Antunes, H, Blanco-Betancourt, C, Castro e Melo, J, Milili, M, Nogueiras, A, Santos, E, Schiff, C, Vasconcelos, J   +7 more
core   +3 more sources

Erratum

Clinical and Experimental Immunology, 2003
Plinio Rossi, Viviana Moschese, Caterina Cancrini, Andrea Finocchi, Maria Cristina Gagliardi, L. Cursi, Paola Orlandi, T. Miyawaki   +7 more
openaire   +4 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

Clinical characteristics and prenatal diagnosis for 22 families in Henan Province of China with X-linked agammaglobulinemia (XLA) related to Bruton’s tyrosine kinase (BTK) gene mutations

BMC Medical Genetics, 2020
Background X-linked agammaglobulinaemia (XLA) is a rare immunodeficiency disease for which recurrent severe infection is the major clinical symptom. BTK is the main causative gene, with X chromosome recessive inheritance.
Shanshan Gao, Shuang Hu, H. Duan, Li Wang, X. Kong   +4 more
semanticscholar   +1 more source