Literature DB >> 27647865

Coexistence of gain-of-function JAK2 germ line mutations with JAK2V617F in polycythemia vera.

Lucie Lanikova1,2,3, Olga Babosova3, Sabina Swierczek1,2, Linghua Wang4, David A Wheeler4, Vladimir Divoky5,6, Vladimir Korinek3, Josef T Prchal1,2,7.   

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Year:  2016        PMID： 27647865      PMCID： PMC5095759          DOI： 10.1182/blood-2016-04-711283

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


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  25 in total

1.  Characterization of the promoter of the human gene encoding the high-affinity IgG receptor: transcriptional induction by gamma-interferon is mediated through common DNA response elements.

Authors:  R N Pearse; R Feinman; J V Ravetch
Journal:  Proc Natl Acad Sci U S A       Date:  1991-12-15       Impact factor: 11.205

2.  Activating mutation in the tyrosine kinase JAK2 in polycythemia vera, essential thrombocythemia, and myeloid metaplasia with myelofibrosis.

Authors:  Ross L Levine; Martha Wadleigh; Jan Cools; Benjamin L Ebert; Gerlinde Wernig; Brian J P Huntly; Titus J Boggon; Iwona Wlodarska; Jennifer J Clark; Sandra Moore; Jennifer Adelsperger; Sumin Koo; Jeffrey C Lee; Stacey Gabriel; Thomas Mercher; Alan D'Andrea; Stefan Fröhling; Konstanze Döhner; Peter Marynen; Peter Vandenberghe; Ruben A Mesa; Ayalew Tefferi; James D Griffin; Michael J Eck; William R Sellers; Matthew Meyerson; Todd R Golub; Stephanie J Lee; D Gary Gilliland
Journal:  Cancer Cell       Date:  2005-04       Impact factor: 31.743

3.  Acquisition of the V617F mutation of JAK2 is a late genetic event in a subset of patients with myeloproliferative disorders.

Authors:  Robert Kralovics; Soon-Siong Teo; Sai Li; Alexandre Theocharides; Andreas S Buser; Andre Tichelli; Radek C Skoda
Journal:  Blood       Date:  2006-05-04       Impact factor: 22.113

4.  The relationship of JAK2(V617F) and acquired UPD at chromosome 9p in polycythemia vera.

Authors:  L Wang; S I Swierczek; L Lanikova; S J Kim; K Hickman; K Walker; K Wang; J Drummond; H Doddapaneni; J G Reid; D M Muzny; R A Gibbs; D A Wheeler; J T Prchal
Journal:  Leukemia       Date:  2014-01-27       Impact factor: 11.528

5.  Jak2 FERM domain interaction with the erythropoietin receptor regulates Jak2 kinase activity.

Authors:  Megumi Funakoshi-Tago; Stéphane Pelletier; Hiroshi Moritake; Evan Parganas; James N Ihle
Journal:  Mol Cell Biol       Date:  2007-12-26       Impact factor: 4.272

6.  A regulating role of the JAK2 FERM domain in hyperactivation of JAK2(V617F).

Authors:  Lequn Zhao; Yue Ma; Joachim Seemann; Lily Jun-shen Huang
Journal:  Biochem J       Date:  2010-01-27       Impact factor: 3.857

7.  Clonal analysis of TET2 and JAK2 mutations suggests that TET2 can be a late event in the progression of myeloproliferative neoplasms.

Authors:  Franz X Schaub; Renate Looser; Sai Li; Hui Hao-Shen; Thomas Lehmann; Andre Tichelli; Radek C Skoda
Journal:  Blood       Date:  2010-01-08       Impact factor: 22.113

8.  Cooperation of germ line JAK2 mutations E846D and R1063H in hereditary erythrocytosis with megakaryocytic atypia.

Authors:  Katarina Kapralova; Monika Horvathova; Christian Pecquet; Jana Fialova Kucerova; Dagmar Pospisilova; Emilie Leroy; Barbora Kralova; Jelena D Milosevic Feenstra; Fiorella Schischlik; Robert Kralovics; Stefan N Constantinescu; Vladimir Divoky
Journal:  Blood       Date:  2016-07-07       Impact factor: 22.113

9.  Germline JAK2 mutation in a family with hereditary thrombocytosis.

Authors:  Adam J Mead; Michelle J Rugless; Sten Eirik W Jacobsen; Anna Schuh
Journal:  N Engl J Med       Date:  2012-03-08       Impact factor: 91.245

10.  Discrepancies in cancer genomic sequencing highlight opportunities for driver mutation discovery.

Authors:  Yaoyong Li; Eleanor W Trotter; Andrew M Hudson; Tim Yates; Shameem Fawdar; Phil Chapman; Paul Lorigan; Andrew Biankin; Crispin J Miller; John Brognard
Journal:  Cancer Res       Date:  2014-09-25       Impact factor: 12.701
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  11 in total

Review 1.  Familial MPN Predisposition.

Authors:  Tsewang Tashi; Sabina Swierczek; Josef T Prchal
Journal:  Curr Hematol Malig Rep       Date:  2017-10       Impact factor: 3.952

Review 2.  Diagnosis, risk stratification, and response evaluation in classical myeloproliferative neoplasms.

Authors:  Elisa Rumi; Mario Cazzola
Journal:  Blood       Date:  2016-12-27       Impact factor: 22.113

3.  Whole-Exome Sequencing in 22 Young Ischemic Stroke Patients With Familial Clustering of Stroke.

Authors:  Andreea Ilinca; Nicolas Martinez-Majander; Sofie Samuelsson; Paul Piccinelli; Katarina Truvé; John Cole; Steven Kittner; Maria Soller; Ulf Kristoffersson; Turgut Tatlisumak; Andreas Puschmann; Jukka Putaala; Arne Lindgren
Journal:  Stroke       Date:  2020-03-16       Impact factor: 7.914

4.  JAK2 ex13InDel drives oncogenic transformation and is associated with chronic eosinophilic leukemia and polycythemia vera.

Authors:  Ami B Patel; Anca Franzini; Emilie Leroy; Soo Jin Kim; Anthony D Pomicter; Lidvine Genet; Michael Xiao; Dongqing Yan; Jonathan M Ahmann; Archana M Agarwal; Phillip Clair; Juanah Addada; Jonathan Lambert; Matthew Salmon; Gerald J Gleich; Nicholas C P Cross; Stefan N Constantinescu; Thomas O'Hare; Josef T Prchal; Michael W Deininger
Journal:  Blood       Date:  2019-12-26       Impact factor: 25.476

5.  Whole-exome sequencing identifies novel candidate predisposition genes for familial polycythemia vera.

Authors:  Elina A M Hirvonen; Esa Pitkänen; Kari Hemminki; Lauri A Aaltonen; Outi Kilpivaara
Journal:  Hum Genomics       Date:  2017-04-20       Impact factor: 4.639

Review 6.  Challenges in the introduction of next-generation sequencing (NGS) for diagnostics of myeloid malignancies into clinical routine use.

Authors:  Ulrike Bacher; Evgenii Shumilov; Johanna Flach; Naomi Porret; Raphael Joncourt; Gertrud Wiedemann; Martin Fiedler; Urban Novak; Ursula Amstutz; Thomas Pabst
Journal:  Blood Cancer J       Date:  2018-11-12       Impact factor: 11.037

Review 7.  Experimental Modeling of Myeloproliferative Neoplasms.

Authors:  Lucie Lanikova; Olga Babosova; Josef T Prchal
Journal:  Genes (Basel)       Date:  2019-10-15       Impact factor: 4.096

Review 8.  Recent insights regarding the molecular basis of myeloproliferative neoplasms.

Authors:  Mi-Ae Jang; Chul Won Choi
Journal:  Korean J Intern Med       Date:  2019-11-29       Impact factor: 2.884

Review 9.  Recent Advances in the Use of Molecular Analyses to Inform the Diagnosis and Prognosis of Patients with Polycythaemia Vera.

Authors:  Ruth Stuckey; María Teresa Gómez-Casares
Journal:  Int J Mol Sci       Date:  2021-05-10       Impact factor: 5.923

10.  Deregulation of JAK2 signaling underlies primary cutaneous CD8+ aggressive epidermotropic cytotoxic T-cell lymphoma.

Authors:  Armando N Bastidas Torres; Davy Cats; Jacoba J Out-Luiting; Daniele Fanoni; Hailiang Mei; Luigia Venegoni; Rein Willemze; Maarten H Vermeer; Emilio Berti; Cornelis P Tensen
Journal:  Haematologica       Date:  2022-03-01       Impact factor: 9.941
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