Molekulargenetisches Labor
Zentrum für Nephrologie und Stoffwechsel

Tyrosine-Proteinkinase JAK2

Das JAK2-Gen kodiert eine Tyrosine-Proteinkinase, die in der Signalkaskade verschiedener Zytokine eingebunden ist. Keimbahnmutationen führen zu Thrombozytämie 3 und somatische Mutationen zu verschiedenen anderen Bluterkrankungen und dem Budd-Chiari-Syndrom.

Gentests:

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

Verknüpfte Erkrankungen:

Somatische Erythrozytose
JAK2
Akute myeloische Leukämie
JAK2
Osteomyelofibrose
JAK2
Polycythaemia vera
JAK2
Thrombozythämie 3
JAK2
Budd-Chiari-Syndrom
JAK2

Referenzen:

1.

Chung RT et al. (2006) Case records of the Massachusetts General Hospital. Case 15-2006. A 46-year-old woman with sudden onset of abdominal distention.

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2.

Sozer S et al. (2009) The presence of JAK2V617F mutation in the liver endothelial cells of patients with Budd-Chiari syndrome.

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3.

Lee JW et al. (2006) The JAK2 V617F mutation in de novo acute myelogenous leukemias.

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4.

Ortmann CA et al. (2015) Effect of mutation order on myeloproliferative neoplasms.

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5.

Baxter EJ et al. () Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders.

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6.

Kralovics R et al. (2005) A gain-of-function mutation of JAK2 in myeloproliferative disorders.

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7.

Méndez-Ferrer S et al. (2008) Haematopoietic stem cell release is regulated by circadian oscillations.

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8.

Méndez-Ferrer S et al. (2010) Mesenchymal and haematopoietic stem cells form a unique bone marrow niche.

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9.

Arranz L et al. (2014) Neuropathy of haematopoietic stem cell niche is essential for myeloproliferative neoplasms.

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10.

James C et al. (2005) A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera.

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11.

Mead AJ et al. (2012) Germline JAK2 mutation in a family with hereditary thrombocytosis.

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12.

Pritchard MA et al. (1992) Two members of the JAK family of protein tyrosine kinases map to chromosomes 1p31.3 and 9p24.

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13.

Campbell GS et al. (1994) Activation of JAK2 tyrosine kinase by prolactin receptors in Nb2 cells and mouse mammary gland explants.

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14.

Gough NM et al. (1995) Localization of genes for two members of the JAK family of protein tyrosine kinases to murine chromosomes 4 and 19.

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15.

Watling D et al. (1993) Complementation by the protein tyrosine kinase JAK2 of a mutant cell line defective in the interferon-gamma signal transduction pathway.

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16.

Peeters P et al. (1997) Fusion of TEL, the ETS-variant gene 6 (ETV6), to the receptor-associated kinase JAK2 as a result of t(9;12) in a lymphoid and t(9;15;12) in a myeloid leukemia.

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17.

Lacronique V et al. (1997) A TEL-JAK2 fusion protein with constitutive kinase activity in human leukemia.

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18.

Parganas E et al. (1998) Jak2 is essential for signaling through a variety of cytokine receptors.

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19.

Neubauer H et al. (1998) Jak2 deficiency defines an essential developmental checkpoint in definitive hematopoiesis.

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20.

Saltzman A et al. (1998) Cloning and characterization of human Jak-2 kinase: high mRNA expression in immune cells and muscle tissue.

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21.

Schwaller J et al. (2000) Stat5 is essential for the myelo- and lymphoproliferative disease induced by TEL/JAK2.

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22.

Digicaylioglu M et al. (2001) Erythropoietin-mediated neuroprotection involves cross-talk between Jak2 and NF-kappaB signalling cascades.

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23.

Huang LJ et al. (2001) The N-terminal domain of Janus kinase 2 is required for Golgi processing and cell surface expression of erythropoietin receptor.

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24.

Tefferi A et al. (2005) JAK2 mutations in myeloproliferative disorders.

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25.

Campbell PJ et al. (2005) Definition of subtypes of essential thrombocythaemia and relation to polycythaemia vera based on JAK2 V617F mutation status: a prospective study.

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26.

Jamieson CH et al. (2006) The JAK2 V617F mutation occurs in hematopoietic stem cells in polycythemia vera and predisposes toward erythroid differentiation.

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27.

Patel RK et al. (2006) Prevalence of the activating JAK2 tyrosine kinase mutation V617F in the Budd-Chiari syndrome.

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28.

Scott LM et al. (2007) JAK2 exon 12 mutations in polycythemia vera and idiopathic erythrocytosis.

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29.

Mercier E et al. (2007) JAK2 V617F mutation in unexplained loss of first pregnancy.

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30.

Bercovich D et al. (2008) Mutations of JAK2 in acute lymphoblastic leukaemias associated with Down's syndrome.

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31.

Dahabreh IJ et al. (2009) No evidence for increased prevalence of JAK2 V617F in women with a history of recurrent miscarriage.

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32.

Jones AV et al. (2009) JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms.

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33.

Kilpivaara O et al. (2009) A germline JAK2 SNP is associated with predisposition to the development of JAK2(V617F)-positive myeloproliferative neoplasms.

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34.

Olcaydu D et al. (2009) A common JAK2 haplotype confers susceptibility to myeloproliferative neoplasms.

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35.

Dawson MA et al. (2009) JAK2 phosphorylates histone H3Y41 and excludes HP1alpha from chromatin.

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36.

Mullighan CG et al. (2009) Rearrangement of CRLF2 in B-progenitor- and Down syndrome-associated acute lymphoblastic leukemia.

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37.

NCBI article

NCBI 3717 [^]
38.

OMIM.ORG article

Omim 147796 [^]
39.

Orphanet article

Orphanet ID 122727 [^]
Update: 9. Mai 2019