Literature DB >> 8380905

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

D Vetrie1, I Vorechovský, P Sideras, J Holland, A Davies, F Flinter, L Hammarström, C Kinnon, R Levinsky, M Bobrow.   

Abstract

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. The gene is a member of the src family of proto-oncogenes which encode protein-tyrosine kinases. This is, to our knowledge, the first evidence that mutations in a src-related gene are involved in human genetic disease.

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Year:  1993        PMID: 8380905     DOI: 10.1038/361226a0

Source DB:  PubMed          Journal:  Nature        ISSN: 0028-0836            Impact factor:   49.962


  351 in total

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Authors:  L D Wang; M R Clark
Journal:  J Clin Invest       Date:  1999-10       Impact factor: 14.808

Review 2.  Early B cell defects.

Authors:  H B Gaspar; M E Conley
Journal:  Clin Exp Immunol       Date:  2000-03       Impact factor: 4.330

3.  Kinase mutant Btk results in atypical X-linked agammaglobulinaemia phenotype.

Authors:  H B Gaspar; M Ferrando; I Caragol; M Hernandez; J M Bertran; X De Gracia; T Lester; C Kinnon; E Ashton; T Espanol
Journal:  Clin Exp Immunol       Date:  2000-05       Impact factor: 4.330

4.  Solution structure of the human BTK SH3 domain complexed with a proline-rich peptide from p120cbl.

Authors:  S R Tzeng; Y C Lou; M T Pai; M L Jain; J W Cheng
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5.  Posttranscriptional regulation of Bruton's tyrosine kinase expression in antigen receptor-stimulated splenic B cells.

Authors:  S Nisitani; A B Satterthwaite; K Akashi; I L Weissman; O N Witte; M I Wahl
Journal:  Proc Natl Acad Sci U S A       Date:  2000-03-14       Impact factor: 11.205

Review 6.  Role of antibodies in controlling viral disease: lessons from experiments of nature and gene knockouts.

Authors:  P P Sanna; D R Burton
Journal:  J Virol       Date:  2000-11       Impact factor: 5.103

Review 7.  X-linked agammaglobulinemia.

Authors:  M E Conley; J Rohrer; Y Minegishi
Journal:  Clin Rev Allergy Immunol       Date:  2000-10       Impact factor: 8.667

8.  Bruton's tyrosine kinase activity is negatively regulated by Sab, the Btk-SH3 domain-binding protein.

Authors:  T Yamadori; Y Baba; M Matsushita; S Hashimoto; M Kurosaki; T Kurosaki; T Kishimoto; S Tsukada
Journal:  Proc Natl Acad Sci U S A       Date:  1999-05-25       Impact factor: 11.205

9.  The Drosophila Bruton's tyrosine kinase (Btk) homolog is required for adult survival and male genital formation.

Authors:  K Baba; A Takeshita; K Majima; R Ueda; S Kondo; N Juni; D Yamamoto
Journal:  Mol Cell Biol       Date:  1999-06       Impact factor: 4.272

10.  X-chromosome-linked immune-deficient mice have B-1b cells.

Authors:  J Riggs; K Howell; B Matechin; R Matlack; A Pennello; R Chiasson
Journal:  Immunology       Date:  2003-04       Impact factor: 7.397

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