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Mutations of the Btk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan

Data up to Jan 2025

Published1996
Citations23
References30

Total Citations Per Year

Abstract

References (30)

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

1993 • 1,438 citations

Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia

1993 • 1,338 citations

The Primary Immunodeficiencies

1984 • 1,111 citations

Crystal structure of the phosphotyrosine recognition domain SH2 of v-src complexed with tyrosine-phosphorylated peptides

1992 • 684 citations

The PH domain: a common piece in the structural pathcwork of signalling proteins

1993 • 536 citations

Recognition of a high-affinity phosphotyrosyl peptide by the Src homology-2 domain of p56lck

1993 • 497 citations

The binding site for the beta gamma subunits of heterotrimeric G proteins on the beta-adrenergic receptor kinase.

1993 • 467 citations

Cytosine methylation and the fate of CpG dinucleotides in vertebrate genomes

1989 • 336 citations

The pleckstrin homology domain of Bruton tyrosine kinase interacts with protein kinase C.

1994 • 322 citations

Expression of Bruton's agammaglobulinemia tyrosine kinase gene, BTK, is selectively down-regulated in T lymphocytes and plasma cells.

1994 • 301 citations

itk, a T-cell-specific tyrosine kinase gene inducible by interleukin 2.

1992 • 254 citations

Binding of beta gamma subunits of heterotrimeric G proteins to the PH domain of Bruton tyrosine kinase.

1994 • 240 citations

B Lymphocyte Precursors in Human Bone Marrow: An Analysis of Normal Individuals and Patients with Antibody-Deficiency States

1978 • 236 citations

Tyrosine phosphorylation and activation of Bruton tyrosine kinase upon Fc epsilon RI cross-linking.

1994 • 221 citations

The Bruton's tyrosine kinase gene is expressed throughout B cell differentiation, from early precursor B cell stages preceding immunoglobulin gene rearrangement up to mature B cell stages

1993 • 206 citations

Bruton tyrosine kinase is tyrosine phosphorylated and activated in pre-B lymphocytes and receptor-ligated B cells.

1994 • 196 citations

Expression of a novel form of Tec kinase in hematopoietic cells and mapping of the gene to chromosome 5 near Kit.

1993 • 142 citations

Mutations of the p53 gene are involved in Ewing's sarcomas but not in neuroblastomas.

1993 • 138 citations

Genomic organization and structure of Bruton agammaglobulinemia tyrosine kinase: localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia.

1994 • 119 citations

Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis

1994 • 101 citations

Primary sequence and developmental expression of a novel Drosophila melanogaster src gene.

1987 • 98 citations

Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase

1994 • 97 citations

Carrier detection in typical and atypical X-linked agammaglobulinemia

1988 • 90 citations

Mutations of the p53 and ras genes in childhood t(1;19)-acute lymphoblastic leukemia

1995 • 86 citations

Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia

1994 • 71 citations

Clinical significance of TAL1 gene alteration in childhood T-cell acute lymphoblastic leukemia and lymphoma.

1993 • 55 citations

Structural organization of the gene for CD40 ligand: molecular analysis for diagnosis of X-linked hyper-IgM syndrome

1995 • 34 citations

Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families

1994 • 31 citations

Carrier Detection in Agammaglobulinemia by X Chromosome Inactivation Analysis

1992 • 4 citations

Deleted Work

1955 • 0 citations

Cited By (0)

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Mutations of the Btk gene in 12 unrelated families with X-linked agammaglobulinemia in… (1996) – Human Genetics | Metascience Observatory Explorer