Literature DB >> 28473624

p.Y317H is a new JAK2 gain-of-function mutation affecting the FERM domain in a myelofibrosis patient with CALR mutation.

Laura Eder-Azanza1,2, Cristina Hurtado1,2, David Navarro-Herrera1, Paula Aranaz1, Francisco J Novo1,2, José L Vizmanos3,2.   

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Year:  2017        PMID： 28473624      PMCID： PMC5541889          DOI： 10.3324/haematol.2017.166439

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


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  15 in total

1.  Type 1 vs type 2 calreticulin mutations in primary myelofibrosis: differences in phenotype and prognostic impact.

Authors:  A Tefferi; T L Lasho; C Finke; A A Belachew; E A Wassie; R P Ketterling; C A Hanson; A Pardanani
Journal:  Leukemia       Date:  2014-02-26       Impact factor: 11.528

2.  JAK2 V617F and CALR mutations are not mutually exclusive; findings from retrospective analysis of a small patient cohort.

Authors:  Gillian McGaffin; Kirsteen Harper; David Stirling; Lorna McLintock
Journal:  Br J Haematol       Date:  2014-06-17       Impact factor: 6.998

3.  A simple approach for classifying new mutations as somatic or germinal in DNA samples lacking paired tissue.

Authors:  Ignacio Erquiaga; Cristina Hurtado; Paula Aranaz; Francisco J Novo; José L Vizmanos
Journal:  Biotechniques       Date:  2014-06-01       Impact factor: 1.993

Review 4.  Myeloproliferative neoplasms: Current molecular biology and genetics.

Authors:  Kolsoum Saeidi
Journal:  Crit Rev Oncol Hematol       Date:  2015-11-28       Impact factor: 6.312

5.  Description of a novel Janus kinase 3 P132A mutation in acute megakaryoblastic leukemia and demonstration of previously reported Janus kinase 3 mutations in normal subjects.

Authors:  Ludovica Riera; Elena Lasorsa; Lisa Bonello; Francesca Sismondi; Fabrizio Tondat; Cristiana Di Bello; Paola Francia Di Celle; Roberto Chiarle; Laura Godio; Achille Pich; Fabio Facchetti; Maurilio Ponzoni; Filippo Marmont; Carlo Zanon; Alberto Bardelli; Giorgio Inghirami
Journal:  Leuk Lymphoma       Date:  2011-05-23

6.  A new potential oncogenic mutation in the FERM domain of JAK2 in BCR/ABL1-negative and V617F-negative chronic myeloproliferative neoplasms revealed by a comprehensive screening of 17 tyrosine kinase coding genes.

Authors:  Paula Aranaz; Cristina Ormazábal; Cristina Hurtado; Ignacio Erquiaga; Maria J Calasanz; Marina García-Delgado; Francisco J Novo; José L Vizmanos
Journal:  Cancer Genet Cytogenet       Date:  2010-05

7.  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

8.  Dual role of the Jak1 FERM and kinase domains in cytokine receptor binding and in stimulation-dependent Jak activation.

Authors:  Serge Haan; Christiane Margue; Arnaud Engrand; Catherine Rolvering; Hildegard Schmitz-Van de Leur; Peter C Heinrich; Iris Behrmann; Claude Haan
Journal:  J Immunol       Date:  2008-01-15       Impact factor: 5.422

9.  Regulation of Jak2 function by phosphorylation of Tyr317 and Tyr637 during cytokine signaling.

Authors:  Scott A Robertson; Rositsa I Koleva; Lawrence S Argetsinger; Christin Carter-Su; Jarrod A Marto; Edward P Feener; Martin G Myers
Journal:  Mol Cell Biol       Date:  2009-04-13       Impact factor: 4.272

10.  Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia.

Authors:  Elisabetta Flex; Valentina Petrangeli; Lorenzo Stella; Sabina Chiaretti; Tekla Hornakova; Laurent Knoops; Cristina Ariola; Valentina Fodale; Emmanuelle Clappier; Francesca Paoloni; Simone Martinelli; Alessandra Fragale; Massimo Sanchez; Simona Tavolaro; Monica Messina; Giovanni Cazzaniga; Andrea Camera; Giovanni Pizzolo; Assunta Tornesello; Marco Vignetti; Angela Battistini; Hélène Cavé; Bruce D Gelb; Jean-Christophe Renauld; Andrea Biondi; Stefan N Constantinescu; Robin Foà; Marco Tartaglia
Journal:  J Exp Med       Date:  2008-03-24       Impact factor: 14.307
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  2 in total

Review 1.  JAK2 Alterations in Acute Lymphoblastic Leukemia: Molecular Insights for Superior Precision Medicine Strategies.

Authors:  Charlotte Ej Downes; Barbara J McClure; Daniel P McDougal; Susan L Heatley; John B Bruning; Daniel Thomas; David T Yeung; Deborah L White
Journal:  Front Cell Dev Biol       Date:  2022-07-12

2.  Identification of a JAK2 FERM Domain Variant Associated With Hereditary Thrombocytosis.

Authors:  Jan Müller; Naomi Azur Porret; Axel Rüfer
Journal:  Hemasphere       Date:  2021-08-02
  2 in total

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