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
Reads0
Chats0
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
More filters
Journal ArticleDOI
Comparison of systemic and local methotrexate treatments in cesarean scar pregnancies: time to change conventional treatment and follow-up protocols.
Semih Uludag,Mehmet Serdar Kutuk,Mehmet Ak,Mahmut Tuncay Ozgun,Mehmet Dolanbay,Ercan Aygen,Yilmaz Sahin +6 more
TL;DR: Even though treatment success and reproductive outcomes are similar, local methotrexate is superior to systemic methotRexate with regard to recovery time, side effects, and treatment costs, even in patients with unfavorable pretreatment prognostic predictors.
Journal ArticleDOI
Revisiting summer infertility in the pig: could heat stress-induced sperm DNA damage negatively affect early embryo development?
TL;DR: Whether heat stress could induce sufficient DNA damage in boar sperm to significantly contribute to the high rates of embryo loss and pregnancy failure observed in the sow during summer infertility is discussed.
Journal ArticleDOI
Systematization of analytical studies of polycythemia vera, essential thrombocythemia and primary myelofibrosis, and a meta-analysis of the frequency of JAK2 , CALR and MPL mutations: 2000–2018
TL;DR: Given the specificity and reported high frequencies of the JAK2V617F, MPL and CALR mutations in this group of neoplasms, the diagnosis of these diseases should not be made on clinical and hematological characteristics alone but should include genetic screening of patients.
Journal ArticleDOI
Paternal mixtures of urinary concentrations of phthalate metabolites, bisphenol A and parabens in relation to pregnancy outcomes among couples attending a fertility center
Lidia Mínguez-Alarcón,Andrea Bellavia,Audrey J. Gaskins,Jorge E. Chavarro,Jennifer B. Ford,Irene Souter,Antonia M. Calafat,Russ Hauser,Paige L. Williams +8 more
TL;DR: Paternal mixtures of urinary concentrations of DEHP metabolites were related to higher infertility treatment failure and the association was stronger between implantation and clinical pregnancy as well as between clinical pregnancy and live birth compared to before implantation.
Journal ArticleDOI
Mapping the past, present and future research landscape of paternal effects
TL;DR: An overview of this field using synthesis of evidence (systematic map) and influence (bibliometric analyses) finds that motivations for studies into paternal effects are diverse and helps in fostering connections between areas of knowledge that develop in parallel, but which could benefit from the lateral transfer of concepts and methods.
References
More filters
Book
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.
Related Papers (5)
Novel insights into the genetic and epigenetic paternal contribution to the human embryo
A paternal environmental legacy: Evidence for epigenetic inheritance through the male germ line
A germline JAK2 SNP is associated with predisposition to the development of JAK2V617F-positive myeloproliferative neoplasms
Outi Kilpivaara,Semanti Mukherjee,Alison M. Schram,Martha Wadleigh,Ann Mullally,Benjamin L. Ebert,Benjamin L. Ebert,Adam J. Bass,Adam J. Bass,Sachie Marubayashi,Adriana Heguy,Guillermo Garcia-Manero,Hagop M. Kantarjian,Kenneth Offit,Richard Stone,D. Gary Gilliland,Robert J. Klein,Ross L. Levine +17 more