Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel
Moldiag Erkrankungen Gene Support Kontakt

Bruton Agammaglobulinemie-Tyrosinkinase

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

Gentests:

Klinisch Untersuchungsmethoden Familienuntersuchung
Bearbeitungszeit 5 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Hochdurchsatz-Sequenzierung
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
Bearbeitungszeit 25 Tage
Probentyp genomische DNS
Klinisch Untersuchungsmethoden Multiplex ligationsabhängige Amplifikation
Bearbeitungszeit 20 Tage
Probentyp genomische DNS

Verknüpfte Erkrankungen:

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

Referenzen:

1.

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

external link
2.

None (1993) Human genetics. Becoming B cells.

external link
3.

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

external link
4.

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

external link
5.

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

external link
6.

Hagemann TL et al. (1994) Genomic organization of the Btk gene and exon scanning for mutations in patients with X-linked agammaglobulinemia.

external link
7.

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

external link
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.

external link
9.

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

external link
10.

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

external link
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.

external link
12.

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

external link
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.

external link
14.

None (1994) Assessing inheritance of agammaglobulinemia.

external link
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.

external link
16.

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

external link
17.

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

external link
18.

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

external link
19.

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

external link
20.

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

external link
21.

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

external link
22.

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

external link
23.

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

external link
24.

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

external link
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.

external link
26.

Vorechovský I et al. (1997) Mutation pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia.

external link
27.

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

external link
28.

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

external link
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.

external link
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.

external link
31.

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

external link
32.

Wood PM et al. (2001) A mutation in Bruton's tyrosine kinase as a cause of selective anti-polysaccharide antibody deficiency.

external link
33.

van der Meer JW et al. (1986) Campylobacter jejuni bacteraemia as a cause of recurrent fever in a patient with hypogammaglobulinaemia.

external link
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.

external link
35.

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

external link
36.

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

external link
37.

Vetrie D et al. (1993) The gene involved in X-linked agammaglobulinaemia is a member of the src family of protein-tyrosine kinases.

external link
38.

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

external link
39.

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

external link
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.

external link
41.

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.

external link
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.

external link
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.

external link
44.

Hagemann TL et al. (1995) Characterization of germline mutations of the gene encoding Bruton's tyrosine kinase in families with X-linked agammaglobulinemia.

external link
45.

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

external link
46.

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

external link
47.

Marshall-Clarke S et al. (1979) Deficient production of anti-red cell autoantibodies by mice with an X-linked B lymphocyte defect.

external link
48.

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

external link
49.

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

external link
50.

van Zelm MC et al. (2008) Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements.

external link
51.

Hasan M et al. (2008) Defective Toll-like receptor 9-mediated cytokine production in B cells from Bruton's tyrosine kinase-deficient mice.

external link
52.

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

external link
53.

Wattanasirichaigoon D et al. (2006) Four novel and three recurrent mutations of the BTK gene and pathogenic effects of putative splice mutations.

external link
54.

Kawakami Y et al. (2006) Regulation of dendritic cell maturation and function by Bruton's tyrosine kinase via IL-10 and Stat3.

external link
55.

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

external link
56.

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

external link
57.

NCBI article

NCBI 695 external link
58.

OMIM.ORG article

Omim 300300 external link
59.

Orphanet article

Orphanet ID 119094 external link
60.

Wikipedia Artikel

Wikipedia DE (Bruton-Tyrosinkinase) external link
Update: 14. August 2020
Copyright © 2005-2020 Zentrum für Nephrologie und Stoffwechsel, Dr. Mato Nagel
Albert-Schweitzer-Ring 32, D-02943 Weißwasser, Deutschland, Tel.: +49-3576-287922, Fax: +49-3576-287944
Seitenüberblick | Webmail | Haftungsausschluss | Datenschutz