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Literature DB >> 18056003

JAK2 exon 12 mutations in polycythemia vera or idiopathic erythrocytosis.

Luz Martínez-Avilés¹, Carles Besses, Alberto Alvarez-Larrán, Francisco Cervantes, Juan Carlos Hernández-Boluda, Beatriz Bellosillo.

Abstract

JAK2 exon 12 mutations were detected in 4 out of 20 polycythemia vera and idiopathic erythrocytosis V617F-negative patients and were only present in the myeloid lineage. Initial hematologic data of these patients differ from those of V617F-positive patients, but there is no difference in thrombotic development and myelofibrotic transformation.

Entities: Disease Gene Species

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Year: 2007 PMID： 18056003 DOI： 10.3324/haematol.12011

Source DB: PubMed Journal: Haematologica ISSN： 0390-6078 Impact factor: 9.941

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Cited

11 in total

1. Nested high-resolution melting curve analysis a highly sensitive, reliable, and simple method for detection of JAK2 exon 12 mutations--clinical relevance in the monitoring of polycythemia.

Authors: Serge Carillo; Laurent Henry; Eric Lippert; François Girodon; Isabelle Guiraud; Céline Richard; Frédérique Dubois Galopin; Cedric Cleyrat; Eric Jourdan; Robert Kralovics; Sylvie Hermouet; Thierry Lavabre-Bertrand
Journal: J Mol Diagn Date: 2011-05 Impact factor: 5.568

2. Detection of exon 12 Mutations in the JAK2 gene: enhanced analytical sensitivity using clamped PCR and nucleotide sequencing.

Authors: Todd S Laughlin; Alison R Moliterno; Brady L Stein; Paul G Rothberg
Journal: J Mol Diagn Date: 2010-03-04 Impact factor: 5.568

3. Mechanistic insights into activation and SOCS3-mediated inhibition of myeloproliferative neoplasm-associated JAK2 mutants from biochemical and structural analyses.

Authors: Leila N Varghese; Daniela Ungureanu; Nicholas P D Liau; Samuel N Young; Artem Laktyushin; Henrik Hammaren; Isabelle S Lucet; Nicos A Nicola; Olli Silvennoinen; Jeffrey J Babon; James M Murphy
Journal: Biochem J Date: 2014-03-01 Impact factor: 3.857

4. JAK2 V617F, MPL W515L and JAK2 Exon 12 Mutations in Chinese Patients with Primary Myelofibrosis.

Authors: Jun Xia; Mi-Ze Lu; Yuan-Qiang Jiang; Guo-Hua Yang; Yun Zhuang; Hong-Li Sun; Yun-Feng Shen
Journal: Chin J Cancer Res Date: 2012-03 Impact factor: 5.087

Review 5. Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1.

Authors: A Tefferi
Journal: Leukemia Date: 2010-04-29 Impact factor: 11.528

JAK2 exon 12 mutations in polycythemia vera or idiopathic erythrocytosis.

1. Nested high-resolution melting curve analysis a highly sensitive, reliable, and simple method for detection of JAK2 exon 12 mutations--clinical relevance in the monitoring of polycythemia.

2. Detection of exon 12 Mutations in the JAK2 gene: enhanced analytical sensitivity using clamped PCR and nucleotide sequencing.

3. Mechanistic insights into activation and SOCS3-mediated inhibition of myeloproliferative neoplasm-associated JAK2 mutants from biochemical and structural analyses.

4. JAK2 V617F, MPL W515L and JAK2 Exon 12 Mutations in Chinese Patients with Primary Myelofibrosis.

Review 5. Novel mutations and their functional and clinical relevance in myeloproliferative neoplasms: JAK2, MPL, TET2, ASXL1, CBL, IDH and IKZF1.

6. Enzymatic Characterization of Wild-Type and Mutant Janus Kinase 1.

7. [Clinical and laboratory features compared between JAK2 exon12 and JAK2 V617F mutated polycythemia vera].

8. Molecular biology of Philadelphia-negative myeloproliferative neoplasms.

Review 9. Molecular drug targets in myeloproliferative neoplasms: mutant ABL1, JAK2, MPL, KIT, PDGFRA, PDGFRB and FGFR1.

10. The Polymorphisms in LNK Gene Correlated to the Clinical Type of Myeloproliferative Neoplasms.