Evaluation of the association between the JAK2 46/1 haplotype and chronic myeloproliferative neoplasms in a Brazilian population
Sarah Pagliarini-e-Silva,Bruna Cunha Santos,Elizangela Mendes de Figueiredo Pereira,Mari Ellen Ferreira,Elaine Cristina Baraldi,Ana Maria Sell,Jeane Eliete Laguila Visentainer +6 more
TLDR
The JAK2 46/1 haplotype, represented in this study by the presence of the G allele, is an important predisposing factor in the oncogenetic development of these neoplasms in the studied population.About:
This article is published in Clinics.The article was published on 2013-01-01 and is currently open access. It has received 41 citations till now. The article focuses on the topics: Myeloproliferative neoplasm & Population.read more
Citations
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Study of the p.V617F and Exon 12 Mutations in JAK2 Gene Among Iranian Chronic Myeloproliferative Patients
Sara Khatamianfar,Mohammad Esmaeil Akbari,Shohre Zare Karizi,Faravareh Khordadpoor Deilamani +3 more
TL;DR: In this paper, the authors investigated the p.V617F (c.1849G > T) mutation as well as exon 12 mutations in JAK2 gene in the CMPD patients.
References
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WHO Classification of Tumours of Haematopoietic and Lymphoid Tissues
TL;DR: Thank you very much for reading who classification of tumours of haematopoietic and lymphoid tissues, and maybe you have knowledge that, people have look hundreds of times for their chosen readings like this, but end up in malicious downloads.
Journal ArticleDOI
A Gain-of-Function Mutation of JAK2 in Myeloproliferative Disorders
Robert Kralovics,Francesco Passamonti,Andreas Buser,Soon Siong Teo,Ralph Tiedt,Jakob Passweg,André Tichelli,Mario Cazzola,Radek C. Skoda +8 more
TL;DR: Genetic evidence and in vitro functional studies indicate that V617F gives hematopoietic precursors proliferative and survival advantages and a high proportion of patients with myeloproliferative disorders carry a dominant gain-of-function mutation of JAK2.
Journal ArticleDOI
Acquired mutation of the tyrosine kinase JAK2 in human myeloproliferative disorders.
E. Joanna Baxter,Linda M. Scott,Peter J. Campbell,Clare L. East,Nasios Fourouclas,Soheila Swanton,George S. Vassiliou,Anthony J. Bench,Elaine M. Boyd,Natasha Curtin,Michael A. Scott,Wendy N. Erber,Anthony R. Green,Anthony R. Green +13 more
TL;DR: A single acquired mutation of JAK2 was noted in more than half of patients with a myeloproliferative disorder and its presence in all erythropoietin-independent erythroid colonies demonstrates a link with growth factor hypersensitivity, a key biological feature of these disorders.
Journal ArticleDOI
A unique clonal JAK2 mutation leading to constitutive signalling causes polycythaemia vera
Chloé James,Valérie Ugo,Jean-Pierre Le Couedic,Judith Staerk,François Delhommeau,Catherine Lacout,Loïc Garçon,Hana Raslova,Roland Berger,Annelise Bennaceur-Griscelli,Jean-Luc Villeval,Stefan N. Constantinescu,Nicole Casadevall,William Vainchenker +13 more
TL;DR: A clonal and recurrent mutation in the JH2 pseudo-kinase domain of the Janus kinase 2 (JAK2) gene in most (> 80%) polycythaemia vera patients leads to constitutive tyrosine phosphorylation activity that promotes cytokine hypersensitivity and induces erythrocytosis in a mouse model.
Journal ArticleDOI
Widespread occurrence of the JAK2 V617F mutation in chronic myeloproliferative disorders
Amy V. Jones,Sebastian Kreil,Katerina Zoi,Katherine Waghorn,Claire Curtis,Lingyan Zhang,Joannah Score,Rachel Seear,Andrew Chase,Francis H. Grand,Helen E. White,Christine Zoi,Dimitris Loukopoulos,Evangelos Terpos,Elisavet-Christine Vervessou,Beate Schultheis,Michael Emig,Thomas Ernst,Eva Lengfelder,Rüdiger Hehlmann,Andreas Hochhaus,David Oscier,Richard T. Silver,Andreas Reiter,Nicholas C.P. Cross +24 more
TL;DR: It is concluded that V617F is widespread in MPDs and detection of this acquired mutation is likely to have a major impact on the way patients with MPD are diagnosed, as well as serving as an obvious target for signal transduction therapy.
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