Btk Mutation
Mostrando 1-12 de 18 artigos, teses e dissertações.
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1. Study of the BTK (Brutons Tyrosine Kinase) in patients with congenital agammaglobulinemia. / Estudo do gene btk (brutons tyrosine quinase) em pacientes com agamaglobulinemia congênita
X-linked Agammaglobulinemia (XLA) is a primary immunodeficiency characterized by the absence or decreased numbers of mature B cells in peripheral blood, and by a lack of all immunoglobulin isotypes, leading to an increased susceptibility to severe bacterial and enteroviral infections. XLA is caused by mutations in the gene encoding for Brutons tyrosine kinas
Publicado em: 2008
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2. Bruton’s tyrosine kinase regulates apoptosis and JNK/SAPK kinase activity
Mast cells derived from Bruton’s tyrosine kinase (Btk)-defective xid or btk null mice showed greater expansion in culture containing interleukin-3 (IL-3) than those from wild-type (wt) mice. Although the proliferative response to IL-3 was not significantly different between the wt and xid mast cells, xid and btk null mast cells died by apoptosis more slowl
The National Academy of Sciences of the USA.
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3. The Drosophila Bruton’s Tyrosine Kinase (Btk) Homolog Is Required for Adult Survival and Male Genital Formation
We isolated a Drosophila fickleP (ficP) mutant with a shortened copulatory duration and reduced adult-stage life span. The reduced copulatory duration is ascribable to incomplete fusion of the left and right halves of the apodeme that holds the penis during copulation. ficP is an intronic mutation occurring in the Btk gene, a gene which encodes two forms (ty
American Society for Microbiology.
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4. Regulation of Nuclear Localization and Transcriptional Activity of TFII-I by Bruton’s Tyrosine Kinase
Bruton’s tyrosine kinase (Btk) is required for normal B-cell development, as defects in Btk lead to X-linked immunodeficiency (xid) in mice and X-linked agammaglobulinemia (XLA) in humans. Here we demonstrate a functional interaction between the multifunctional transcription factor TFII-I and Btk. Ectopic expression of wild-type Btk enhances TFII-I-mediate
American Society for Microbiology.
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5. PKCβ modulates antigen receptor signaling via regulation of Btk membrane localization
Mutations in Bruton’s tyrosine kinase (Btk) result in X-linked agammaglobulinemia (XLA) in humans and X-linked immunodeficiency (xid) in mice. While targeted disruption of the protein kinase C-β (PKCβ) gene in mice results in an immunodeficiency similar to xid, the overall tyrosine phosphorylation of Btk is significantly enhanced in PKCβ-deficient B cel
Oxford University Press.
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6. Btk dosage determines sensitivity to B cell antigen receptor cross-linking
Mutations in Btk result in the B cell immunodeficiencies X-linked agammaglobulinemia (XLA) in humans and X-linked immunodeficiency (xid) in mice. Btk is a critical component of signaling pathways regulating B cell development and function. We used a genetic approach to determine whether Btk is also limiting for these processes. One allele of a murine Btk tra
The National Academy of Sciences of the USA.
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7. Phosphorylation of two regulatory tyrosine residues in the activation of Bruton’s tyrosine kinase via alternative receptors
Mutation of Bruton’s tyrosine kinase (Btk) impairs B cell maturation and function and results in a clinical phenotype of X-linked agammaglobulinemia. Activation of Btk correlates with an increase in the phosphorylation of two regulatory Btk tyrosine residues. Y551 (site 1) within the Src homology type 1 (SH1) domain is transphosphorylated by the Src family
The National Academy of Sciences of the USA.
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8. Posttranscriptional regulation of Bruton's tyrosine kinase expression in antigen receptor-stimulated splenic B cells
Mutation of Bruton's tyrosine kinase (Btk) causes human X-linked agammaglobulinemia and murine X-linked immunodeficiency syndrome (xid). Quantitative aspects of B lymphocyte development and function have been demonstrated to depend on Btk level in vivo by using a murine transgenic model system. A sensitive intracellular immunofluorescent assay was devel
The National Academy of Sciences.
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9. Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease.
X-linked agammaglobulinemia (XLA) is a hereditary defect of B-cell differentiation in man caused by deficiency of Bruton tyrosine kinase (BTK). A three-dimensional model for the BTK kinase domain, based on the core structure of cAMP-dependent protein kinase, was used to interpret the structural basis for disease in eight independent point mutations in patien
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10. BTKbase, mutation database for X-linked agammaglobulinemia (XLA).
X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton's agammaglobulinemia tyrosine kinase (BTK). A database (BTKbase) of BTK mutations has been compiled and the recent update lists 463 mutation entries from 406 unrelated families showing 303 unique molecular events. In addition to mutations, the database
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11. A new point mutation involving a highly conserved leucine in the Btk SH2 domain in a family with X linked agammaglobulinaemia.
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12. BTKbase, mutation database for X-linked agammaglobulinemia (XLA)
X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton's agammaglobulinemia tyrosine kinase (BTK). A database (BTKbase) of BTK mutations has been compiled and the recent update lists 368 entries from 318 unrelated families showing 228 unique molecular events. In addition to mutations the database lists also