Literature DB >> 29567786

Germline JAK2 L611S mutation in a child with thrombocytosis.

Bernard Aral1, Martine Courtois2, Sylviane Ragot1, Valentin Bourgeois2, Elodie Bottolier-Lemallaz3, Claire Briandet3, François Girodon4,5.   

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Year:  2018        PMID： 29567786      PMCID： PMC6068025          DOI： 10.3324/haematol.2018.188995

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


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  11 in total

1.  Detection of JAK2 mutations in paraffin marrow biopsies by high resolution melting analysis: identification of L611S alone and in cis with V617F in polycythemia vera.

Authors:  Roberto H Nussenzveig; Tatiana Burjanivova; Mohamed E Salama; Natalie W Ogilvie; Juraj Marcinek; Lukas Plank; Archana M Agarwal; Sherrie L Perkins; Josef T Prchal
Journal:  Leuk Lymphoma       Date:  2012-07-09

2.  Mutational screen reveals a novel JAK2 mutation, L611S, in a child with acute lymphoblastic leukemia.

Authors:  C P Kratz; S Böll; U Kontny; M Schrappe; C M Niemeyer; M Stanulla
Journal:  Leukemia       Date:  2006-02       Impact factor: 11.528

3.  JAK2 mutation and disease phenotype: a double L611V/V617F in cis mutation of JAK2 is associated with isolated erythrocytosis and increased activation of AKT and ERK1/2 rather than STAT5.

Authors:  C Cleyrat; J Jelinek; F Girodon; M Boissinot; T Ponge; J-L Harousseau; J-P Issa; S Hermouet
Journal:  Leukemia       Date:  2010-02-25       Impact factor: 11.528

Review 4.  Hereditary erythrocytosis, thrombocytosis and neutrophilia.

Authors:  Wan-Jen Hong; Jason Gotlib
Journal:  Best Pract Res Clin Haematol       Date:  2014-07-18       Impact factor: 3.020

5.  Whole-exome sequencing identifies novel MPL and JAK2 mutations in triple-negative myeloproliferative neoplasms.

Authors:  Jelena D Milosevic Feenstra; Harini Nivarthi; Heinz Gisslinger; Emilie Leroy; Elisa Rumi; Ilyas Chachoua; Klaudia Bagienski; Blanka Kubesova; Daniela Pietra; Bettina Gisslinger; Chiara Milanesi; Roland Jäger; Doris Chen; Tiina Berg; Martin Schalling; Michael Schuster; Christoph Bock; Stefan N Constantinescu; Mario Cazzola; Robert Kralovics
Journal:  Blood       Date:  2015-09-30       Impact factor: 22.113

6.  The acute lymphoblastic leukemia-associated JAK2 L611S mutant induces tumorigenesis in nude mice.

Authors:  Megumi Funakoshi-Tago; Kenji Tago; Kazuya Sumi; Miyuki Abe; Eriko Aizu-Yokota; Tomoyuki Oshio; Yoshiko Sonoda; Tadashi Kasahara
Journal:  J Biol Chem       Date:  2009-03-16       Impact factor: 5.157

7.  JAK mutations in high-risk childhood acute lymphoblastic leukemia.

Authors:  Charles G Mullighan; Jinghui Zhang; Richard C Harvey; J Racquel Collins-Underwood; Brenda A Schulman; Letha A Phillips; Sarah K Tasian; Mignon L Loh; Xiaoping Su; Wei Liu; Meenakshi Devidas; Susan R Atlas; I-Ming Chen; Robert J Clifford; Daniela S Gerhard; William L Carroll; Gregory H Reaman; Malcolm Smith; James R Downing; Stephen P Hunger; Cheryl L Willman
Journal:  Proc Natl Acad Sci U S A       Date:  2009-05-22       Impact factor: 11.205

Review 8.  Back to biology: new insights on inheritance in myeloproliferative disorders.

Authors:  Evan M Braunstein; Alison R Moliterno
Journal:  Curr Hematol Malig Rep       Date:  2014-12       Impact factor: 3.952

9.  Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors.

Authors:  Caroline Marty; Cécile Saint-Martin; Christian Pecquet; Sarah Grosjean; Joseph Saliba; Céline Mouton; Emilie Leroy; Ashot S Harutyunyan; Jean-François Abgrall; Rémi Favier; Aurélie Toussaint; Eric Solary; Robert Kralovics; Stefan N Constantinescu; Albert Najman; William Vainchenker; Isabelle Plo; Christine Bellanné-Chantelot
Journal:  Blood       Date:  2014-01-07       Impact factor: 22.113

10.  Calreticulin Mutations in Myeloproliferative Neoplasms: Comparison of Three Diagnostic Methods.

Authors:  Ji-Hye Park; Margaux Sevin; Selim Ramla; Aurélie Truffot; Tiffany Verrier; Dominique Bouchot; Martine Courtois; Mathilde Bas; Sonia Benali; François Bailly; Bernardine Favre; Julien Guy; Laurent Martin; Marc Maynadié; Serge Carillo; François Girodon
Journal:  PLoS One       Date:  2015-10-26       Impact factor: 3.240
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  2 in total

Review 1.  Genetic Background of Polycythemia Vera.

Authors:  Mathilde Regimbeau; Romain Mary; François Hermetet; François Girodon
Journal:  Genes (Basel)       Date:  2022-04-02       Impact factor: 4.141

Review 2.  Thrombocytosis in children and adolescents-classification, diagnostic approach, and clinical management.

Authors:  Clemens Stockklausner; C M Duffert; H Cario; R Knöfler; W Streif; A E Kulozik
Journal:  Ann Hematol       Date:  2021-03-12       Impact factor: 3.673
  2 in total

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