Bruton agammaglobulinemia tyrosine kinase
The protein encoded by this gene plays a crucial role in B-cell development. Mutations in this gene cause X-linked agammaglobulinemia type 1
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References:
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Thomas JD et al. (1993) Colocalization of X-linked agammaglobulinemia and X-linked immunodeficiency genes.
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None (1993) Human genetics. Becoming B cells.
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3. |
Vihinen M et al. (1994) Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease.
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4. |
Conley ME et al. (1994) Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase.
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5. |
Zhu Q et al. (1994) Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families.
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6. |
Hagemann TL et al. (1994) Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia.
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7. |
Rohrer J et al. (1994) The genomic structure of human BTK, the defective gene in X-linked agammaglobulinemia.
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8. |
Ohta Y et al. (1994) Genomic organization and structure of Bruton agammaglobulinemia tyrosine kinase: localization of mutations associated with varied clinical presentations and course in X chromosome-linked agammaglobulinemia.
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9. |
Vorechovsky I et al. (1993) Molecular diagnosis of X-linked agammaglobulinaemia.
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10. |
Vorechovsky I et al. (1993) Absence of xid mutation in X-linked agammaglobulinaemia.
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11. |
de Weers M et al. (1994) 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.
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12. |
Bradley LA et al. (1994) Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis.
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13. |
Saffran DC et al. (1994) Brief report: a point mutation in the SH2 domain of Bruton's tyrosine kinase in atypical X-linked agammaglobulinemia.
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14. |
None (1994) Assessing inheritance of agammaglobulinemia.
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15. |
Duriez B et al. (1994) An exon-skipping mutation in the btk gene of a patient with X-linked agammaglobulinemia and isolated growth hormone deficiency.
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16. |
Rawlings DJ et al. (1993) Mutation of unique region of Bruton's tyrosine kinase in immunodeficient XID mice.
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17. |
Tsukada S et al. (1993) Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia.
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18. |
Parolini O et al. (1993) Linkage analysis and physical mapping near the gene for X-linked agammaglobulinemia at Xq22.
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19. |
Vihinen M et al. (1996) BTKbase, mutation database for X-linked agammaglobulinemia (XLA).
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20. |
Bykowsky MJ et al. (1996) Discordant phenotype in siblings with X-linked agammaglobulinemia.
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21. |
Uckun FM et al. (1996) BTK as a mediator of radiation-induced apoptosis in DT-40 lymphoma B cells.
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22. |
Jones A et al. (1996) X linked agammaglobulinaemia with a 'leaky' phenotype.
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23. |
Kobayashi S et al. (1996) Mutations of the Btk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan.
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24. |
Yel L et al. (1996) Mutations in the mu heavy-chain gene in patients with agammaglobulinemia.
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25. |
Drabek D et al. (1997) Correction of the X-linked immunodeficiency phenotype by transgenic expression of human Bruton tyrosine kinase under the control of the class II major histocompatibility complex Ea locus control region.
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26. |
Vorechovský I et al. (1997) Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia.
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27. |
Minegishi Y et al. (1998) Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia.
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28. |
Conley ME et al. (1998) Mutations in btk in patients with presumed X-linked agammaglobulinemia.
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29. |
Oeltjen JC et al. (1995) Sixty-nine kilobases of contiguous human genomic sequence containing the alpha-galactosidase A and Bruton's tyrosine kinase loci.
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30. |
Cheng G et al. (1994) Binding of Bruton's tyrosine kinase to Fyn, Lyn, or Hck through a Src homology 3 domain-mediated interaction.
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31. |
Sakamoto M et al. (2001) Maternal germinal mosaicism of X-linked agammaglobulinemia.
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32. |
Wood PM et al. (2001) A mutation in Bruton's tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency.
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33. |
van der Meer JW et al. (1986) Campylobacter jejuni bacteraemia as a cause of recurrent fever in a patient with hypogammaglobulinaemia.
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34. |
Cohen DI et al. () Expression of an X-linked gene family (XLR) in late-stage B cells and its alteration by the xid mutation.
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35. |
Kornfeld SJ et al. (1995) X-linked agammaglobulinemia presenting as transient hypogammaglobulinemia of infancy.
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36. |
Rawlings DJ et al. (1994) Bruton's tyrosine kinase is a key regulator in B-cell development.
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37. |
Vetrie D et al. (1993) The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases.
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38. |
Vihinen M et al. (1999) Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia.
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39. |
Curtis SK et al. (2000) Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene.
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40. |
Scher I et al. (1975) X-linked B-lymphocyte immune defect in CBA/N mice. II. Studies of the mechanisms underlying the immune defect.
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Mao C et al. (2001) Crystal structure of Bruton's tyrosine kinase domain suggests a novel pathway for activation and provides insights into the molecular basis of X-linked agammaglobulinemia.
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42. |
Jo EK et al. (2001) Characterization of mutations, including a novel regulatory defect in the first intron, in Bruton's tyrosine kinase gene from seven Korean X-linked agammaglobulinemia families.
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43. |
Jo EK et al. (2003) Identification of mutations in the Bruton's tyrosine kinase gene, including a novel genomic rearrangements resulting in large deletion, in Korean X-linked agammaglobulinemia patients.
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44. |
Hagemann TL et al. (1995) Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia.
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45. |
Berning AK et al. (1980) Mapping of the X-linked immune deficiency mutation (xid) of CBA/N mice.
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46. |
Buckley RH et al. (1973) Agammaglobulinemia, neutropenia, fever, and abdominal pain.
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47. |
Marshall-Clarke S et al. (1979) Deficient production of anti-red cell autoantibodies by mice with an X-linked B lymphocyte defect.
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48. |
Conley ME et al. (1988) Carrier detection in typical and atypical X-linked agammaglobulinemia.
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49. |
Shinohara M et al. (2008) Tyrosine kinases Btk and Tec regulate osteoclast differentiation by linking RANK and ITAM signals.
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van Zelm MC et al. (2008) Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements.
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51. |
Hasan M et al. (2008) Defective Toll-like receptor 9-mediated cytokine production in B cells from Bruton's tyrosine kinase-deficient mice.
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Hantschel O et al. (2007) The Btk tyrosine kinase is a major target of the Bcr-Abl inhibitor dasatinib.
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53. |
Wattanasirichaigoon D et al. (2006) Four novel and three recurrent mutations of the BTK gene and pathogenic effects of putative splice mutations.
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54. |
Kawakami Y et al. (2006) Regulation of dendritic cell maturation and function by Bruton's tyrosine kinase via IL-10 and Stat3.
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55. |
Ng YS et al. (2004) Bruton's tyrosine kinase is essential for human B cell tolerance.
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56. |
Martin S et al. (2001) Development of type 1 diabetes despite severe hereditary B-lymphocyte deficiency.
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57. |
NCBI article
NCBI 695
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58. |
OMIM.ORG article
Omim 300300
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59. |
Orphanet article
Orphanet ID 119094
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Wikipedia article
Wikipedia EN (Bruton's_tyrosine_kinase)
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Update: Aug. 14, 2020