Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

Bruton Agammaglobulinemie-Tyrosinkinase

Das Gen kodiert ein Schlüsselprotein für die Entwicklung der B-Lymphozyten. Mutationen sind für die x-chromosomale Agammablobulinämie Typ 1 verantwortlich.

Diagnostik:

Clinic Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5
Probentyp genomic DNA
Clinic Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 20
Probentyp genomic DNA
Clinic Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25
Probentyp genomic DNA
Clinic Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25
Probentyp genomic DNA

Krankheiten:

Isolierter x-chromosomaler Wachstumshormonmangel
BTK
Agammaglobulinämie, x-chromosomal
BTK

Referenzen:

1.

Vihinen M et al. (1999) Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia.

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2.

Curtis SK et al. (2000) Twin carriers of X-linked agammaglobulinemia (XLA) due to germline mutation in the Btk gene.

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3.

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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4.

Sakamoto M et al. (2001) Maternal germinal mosaicism of X-linked agammaglobulinemia.

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5.

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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6.

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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7.

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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8.

Martin S et al. (2001) Development of type 1 diabetes despite severe hereditary B-lymphocyte deficiency.

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9.

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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10.

Ng YS et al. (2004) Bruton's tyrosine kinase is essential for human B cell tolerance.

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11.

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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12.

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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13.

Hantschel O et al. (2007) The Btk tyrosine kinase is a major target of the Bcr-Abl inhibitor dasatinib.

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14.

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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15.

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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16.

Shinohara M et al. (2008) Tyrosine kinases Btk and Tec regulate osteoclast differentiation by linking RANK and ITAM signals.

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17.

Conley ME et al. (1988) Carrier detection in typical and atypical X-linked agammaglobulinemia.

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18.

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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19.

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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20.

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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21.

Buckley RH et al. (1973) Agammaglobulinemia, neutropenia, fever, and abdominal pain.

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22.

Berning AK et al. (1980) Mapping of the X-linked immune deficiency mutation (xid) of CBA/N mice.

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23.

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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24.

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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25.

Desiderio S et al. (1993) Human genetics. Becoming B cells.

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26.

Kornfeld SJ et al. (1995) X-linked agammaglobulinemia presenting as transient hypogammaglobulinemia of infancy.

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27.

Vihinen M et al. (1994) Structural basis for chromosome X-linked agammaglobulinemia: a tyrosine kinase disease.

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28.

Conley ME et al. (1994) Screening of genomic DNA to identify mutations in the gene for Bruton's tyrosine kinase.

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29.

Zhu Q et al. (1994) Unique mutations of Bruton's tyrosine kinase in fourteen unrelated X-linked agammaglobulinemia families.

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30.

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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31.

Rohrer J et al. (1994) The genomic structure of human BTK, the defective gene in X-linked agammaglobulinemia.

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32.

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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33.

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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34.

Rawlings DJ et al. (1994) Bruton's tyrosine kinase is a key regulator in B-cell development.

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35.

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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36.

Vorechovsky I et al. (1993) Molecular diagnosis of X-linked agammaglobulinaemia.

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37.

Vorechovsky I et al. (1993) Absence of xid mutation in X-linked agammaglobulinaemia.

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38.

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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39.

Bradley LA et al. (1994) Mutation detection in the X-linked agammaglobulinemia gene, BTK, using single strand conformation polymorphism analysis.

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40.

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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41.

Buckley RH et al. (1994) Assessing inheritance of agammaglobulinemia.

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42.

Thomas JD et al. (1993) Colocalization of X-linked agammaglobulinemia and X-linked immunodeficiency genes.

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43.

Rawlings DJ et al. (1993) Mutation of unique region of Bruton's tyrosine kinase in immunodeficient XID mice.

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44.

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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45.

Tsukada S et al. (1993) Deficient expression of a B cell cytoplasmic tyrosine kinase in human X-linked agammaglobulinemia.

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46.

Parolini O et al. (1993) Linkage analysis and physical mapping near the gene for X-linked agammaglobulinemia at Xq22.

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47.

Vihinen M et al. (1996) BTKbase, mutation database for X-linked agammaglobulinemia (XLA).

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48.

Bykowsky MJ et al. (1996) Discordant phenotype in siblings with X-linked agammaglobulinemia.

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49.

Uckun FM et al. (1996) BTK as a mediator of radiation-induced apoptosis in DT-40 lymphoma B cells.

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50.

Jones A et al. (1996) X linked agammaglobulinaemia with a 'leaky' phenotype.

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51.

Kobayashi S et al. (1996) Mutations of the Btk gene in 12 unrelated families with X-linked agammaglobulinemia in Japan.

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52.

Yel L et al. (1996) Mutations in the mu heavy-chain gene in patients with agammaglobulinemia.

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53.

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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54.

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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55.

Minegishi Y et al. (1998) Mutations in the human lambda5/14.1 gene result in B cell deficiency and agammaglobulinemia.

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56.

Conley ME et al. (1998) Mutations in btk in patients with presumed X-linked agammaglobulinemia.

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