Molekulargenetische Diagnostik
Praxis Dr. Mato Nagel

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.

Diagnostik:

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

Krankheiten:

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

Referenzen:

1.

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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2.

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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3.

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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4.

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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5.

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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6.

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

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7.

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

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8.

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

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9.

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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10.

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

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11.

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

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12.

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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13.

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

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14.

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

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15.

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

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16.

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

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17.

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

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18.

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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19.

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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20.

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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21.

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

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22.

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

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23.

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

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24.

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

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25.

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

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26.

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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27.

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

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28.

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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29.

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

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30.

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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31.

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

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32.

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

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33.

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

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34.

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

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35.

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

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36.

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

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Update: 26. September 2018

 

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