Identification of Bruton's tyrosine kinase (Btk) gene mutations and characterization of the derived proteins in 35 X-linked agammaglobulinemia families: a nationwide study of Btk deficiency in Japan

The Protein Kinase Family: Conserved Features and Deduced Phylogeny of the Catalytic Domains

1988 • 5,115 citations

Protein kinases 6. The eukaryotic protein kinase superfamily: kinase (catalytic) domain structure and classification.

1995 • 2,534 citations

Analysis of cytokine mRNA and DNA: detection and quantitation by competitive polymerase chain reaction.

1990 • 1,484 citations

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

Crystal structure of the tyrosine kinase domain of the human insulin receptor

1994 • 1,071 citations

Mutation of Unique Region of Bruton's Tyrosine Kinase in Immunodeficient XID Mice

1993 • 868 citations

Colocalization of X-Linked Agammaglobulinemia and X-Linked Immunodeficiency Genes

1993 • 631 citations

Intron sequences involved in lariat formation during pre-mRNA splicing

1985 • 402 citations

Impaired expansion of mouse B cell progenitors lacking Btk

1995 • 314 citations

Crystal structure at 2.2 Å resolution of the pleckstrin homology domain from human dynamin

1994 • 268 citations

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

1992 • 254 citations

Signals for the selection of a splice site in pre-mRNA

1987 • 247 citations

BMX, a novel nonreceptor tyrosine kinase gene of the BTK/ITK/TEC/TXK family located in chromosome Xp22.2.

1994 • 169 citations

Phenotypic features and proliferative activity of B cell progenitors in X-linked agammaglobulinemia.

1990 • 152 citations

Mutations which alter splicing in the human hypoxanthine-guanine phosphoribosyltransferase gene

1992 • 150 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

Molecular Approaches to Analysis of X-Linked Immunodeficiencies

1992 • 139 citations

Mutation analysis of the Bruton's tyrosine kinase gene in X-linked agammaglobulinemia: identification of a mutation which affects the same codon as is altered in immunodeficient xid mice

1994 • 131 citations

A Point Mutation in the SH2 Domain of Bruton's Tyrosine Kinase in Atypical X-Linked Agammaglobulinemia

1994 • 129 citations

X-Linked Immune Deficiency (xid) of CBA/N Mice

1986 • 123 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

Exon mutations that affect the choice of splice sites used in processing the SV40 late transcripts

1985 • 103 citations

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

1994 • 101 citations

Genomic organization of mouse and human Bruton's agammaglobulinemia tyrosine kinase (Btk) loci.

1994 • 100 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

Identification of Rlk, a Novel Protein Tyrosine Kinase with Predominant Expression in the T Cell Lineage

1995 • 92 citations

BTKbase: a database of XLA-causing mutations

1995 • 90 citations

Molecular characterization of inherited medium-chain acyl-CoA dehydrogenase deficiency.

1990 • 89 citations

Deletion within the Src homology domain 3 of Bruton's tyrosine kinase resulting in X-linked agammaglobulinemia (XLA).

1994 • 87 citations

DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia

1995 • 85 citations

Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease.

1994 • 85 citations

The molecular defect of ferrochelatase in a patient with erythropoietic protoporphyria.

1992 • 83 citations

A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger.

1993 • 78 citations

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

1994 • 71 citations

Structural Basis for Pleckstrin Homology Domain Mutations in X-Linked Agammaglobulinemia

1995 • 61 citations

Identification of Btk mutations in 20 unrelated patients with X-Iinked agammaglobulinaemia (XLA)

1995 • 58 citations

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

1994 • 31 citations

A nonsense mutation causes human hereditary congenital goiter with preferential production of a 171-nucleotide-deleted thyroglobulin ribonucleic acid messenger

1993 • 31 citations

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

1996 • 23 citations

Agammaglobulinemia, neutropenia, fever, and abdominal pain

1973 • 22 citations

Abnormalities in DNA rearrangements of immunoglobulin gene loci in precursor B cells derived from X-linked agammaglobulinemia patient and a severe combined immunodeficiency patient

1988 • 17 citations

THE GENE INVOLVED IN X-LINKED AGAMMAGLOBULINEMIA IS A MEMBER OF THE SRC FAMILY OF PROTEIN-TYROSINE KINASES

1994 • 14 citations

Nonsense mutation in the phosphofructokinase muscle subunit gene associated with retention of intron 10 in one of the isolated transcripts in Ashkenazi Jewish patients with Tarui disease.

1995 • 14 citations

Molecular Approaches To Analysis Of X-Linked Immunodeficiencies

1992 • 12 citations

Maple syrup urine disease: Domain structure, mutations and exon skipping in the dihydrolipoyl transacylase (E2) component of the branched-chain α-keto acid dehydrogenase complex

1991 • 11 citations

X chromosome inactivation analysis to distinguish sporadic cases of X-linked agammaglobulinaemia from common variable immunodeficiency

1993 • 5 citations

Quantitation of Absolute Numbers of mRNA Copies in a cDNA Sample by Competitive PCR

1995 • 3 citations