Literature DB >> 24142793

A novel germline JAK2 mutation in familial myeloproliferative neoplasms.

Elisa Rumi1, Ashot S Harutyunyan, Ilaria Casetti, Daniela Pietra, Harini Nivarthi, Richard Moriggl, Ciara Cleary, Klaudia Bagienski, Cesare Astori, Marta Bellini, Tiina Berg, Francesco Passamonti, Robert Kralovics, Mario Cazzola.   

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Year:  2014        PMID： 24142793     DOI： 10.1002/ajh.23614

Source DB:  PubMed          Journal:  Am J Hematol        ISSN： 0361-8609            Impact factor:   10.047


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  12 in total

1.  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

2.  Diagnostic workflow for hereditary erythrocytosis and thrombocytosis.

Authors:  Mary Frances McMullin
Journal:  Hematology Am Soc Hematol Educ Program       Date:  2019-12-06

Review 3.  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

4.  JAK2 mutations to the fore in hereditary thrombocythemia.

Authors:  Stephen E Langabeer
Journal:  JAKSTAT       Date:  2014-10-30

5.  Molecular heterogeneity of familial myeloproliferative neoplasms revealed by analysis of the commonly acquired JAK2, CALR and MPL mutations.

Authors:  Stephen E Langabeer; Karl Haslam; Jennifer Linders; Melanie J Percy; Eibhlin Conneally; Amjad Hayat; Brian Hennessy; Maeve Leahy; Karen Murphy; Margaret Murray; Fionnuala Ni Ainle; Patrick Thornton; Jeremy Sargent
Journal:  Fam Cancer       Date:  2014-12       Impact factor: 2.375

Review 6.  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

Review 7.  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

8.  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

Review 9.  Genetic Alterations of the Thrombopoietin/MPL/JAK2 Axis Impacting Megakaryopoiesis.

Authors:  Isabelle Plo; Christine Bellanné-Chantelot; Matthieu Mosca; Stefania Mazzi; Caroline Marty; William Vainchenker
Journal:  Front Endocrinol (Lausanne)       Date:  2017-09-12       Impact factor: 5.555

Review 10.  Human growth disorders associated with impaired GH action: Defects in STAT5B and JAK2.

Authors:  Vivian Hwa
Journal:  Mol Cell Endocrinol       Date:  2020-10-27       Impact factor: 4.102
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