Literature DB >> 8164701

Brief report: a point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia.

D C Saffran1, O Parolini, M E Fitch-Hilgenberg, D J Rawlings, D E Afar, O N Witte, M E Conley.   

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Year:  1994        PMID： 8164701     DOI： 10.1056/NEJM199405263302104

Source DB:  PubMed          Journal:  N Engl J Med        ISSN： 0028-4793            Impact factor:   91.245


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  33 in total

Review 1.  Early B cell defects.

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

Review 2.  X-linked agammaglobulinemia.

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

3.  Analysis of families with common variable immunodeficiency (CVID) and IgA deficiency suggests linkage of CVID to chromosome 16q.

Authors:  Alejandro A Schäffer; Jessica Pfannstiel; A David B Webster; Alessandro Plebani; Lennart Hammarström; Bodo Grimbacher
Journal:  Hum Genet       Date:  2005-11-22       Impact factor: 4.132

4.  A minimally hypomorphic mutation in Btk resulting in reduced B cell numbers but no clinical disease.

Authors:  M E Conley; D M Farmer; A K Dobbs; V Howard; Y Aiba; S A Shurtleff; T Kurosaki
Journal:  Clin Exp Immunol       Date:  2008-01-28       Impact factor: 4.330

5.  B-cell-specific demethylation of BTK, the defective gene in X-linked agammaglobulinemia.

Authors:  O Parolini; J Rohrer; L H Shapiro; M E Conley
Journal:  Immunogenetics       Date:  1995       Impact factor: 2.846

6.  Discordant phenotype in siblings with X-linked agammaglobulinemia.

Authors:  M J Bykowsky; R N Haire; Y Ohta; H Tang; S S Sung; E S Veksler; J M Greene; S M Fu; G W Litman; K E Sullivan
Journal:  Am J Hum Genet       Date:  1996-03       Impact factor: 11.025

Review 7.  Searching for genes involved in the pathogenesis of primary immunodeficiency diseases: lessons from mouse knockouts.

Authors:  C M Kokron; F A Bonilla; H C Oettgen; N Ramesh; R S Geha; F Pandolfi
Journal:  J Clin Immunol       Date:  1997-03       Impact factor: 8.317

8.  Bruton's tyrosine kinase expression and activity in X-linked agammaglobulinaemia (XLA): the use of protein analysis as a diagnostic indicator of XLA.

Authors:  H B Gaspar; T Lester; R J Levinsky; C Kinnon
Journal:  Clin Exp Immunol       Date:  1998-02       Impact factor: 4.330

9.  Stability and peptide binding specificity of Btk SH2 domain: molecular basis for X-linked agammaglobulinemia.

Authors:  S R Tzeng; M T Pai; F D Lung; C W Wu; P P Roller; B Lei; C J Wei; S C Tu; S H Chen; W J Soong; J W Cheng
Journal:  Protein Sci       Date:  2000-12       Impact factor: 6.725

10.  Linkage of autosomal dominant common variable immunodeficiency to chromosome 5p and evidence for locus heterogeneity.

Authors:  D U Braig; A A Schäffer; E Glocker; U Salzer; K Warnatz; H H Peter; B Grimbacher
Journal:  Hum Genet       Date:  2003-02-06       Impact factor: 4.132
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