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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What is a paternal effect
TL;DR: Three basic types of paternal effect are distinguished and key questions that can serve as a road map for research on the proximate basis and evolutionary implications of paternal effects are outlined.
Journal ArticleDOI
Intracytoplasmic sperm injection for male infertility and consequences for offspring
Sandro C. Esteves,Sandro C. Esteves,Matheus Roque,Giuliano Bedoschi,Thor Haahr,Peter Humaidan +5 more
TL;DR: Existing evidence does not support ICSI in preference over in vitro fertilization (IVF) in the general non-male factor ART population; however, in couples with unexplained infertility, I CSI is associated with lower fertilization failure rates than IVF.
Journal ArticleDOI
Paternal factors contributing to embryo quality
Stacy Colaco,Denny Sakkas +1 more
TL;DR: It is proposed that careful assessment of spermatozoal parameters is essential to achieve embryo development and a healthy live birth and the need for more research and the development of standardized protocols to assess the role of sperm factors affecting embryo quality.
Journal ArticleDOI
JAK2V617F somatic mutation in the general population: myeloproliferative neoplasm development and progression rate.
TL;DR: Level of JAK2V617F mutation burden was associated with myeloproliferative neoplasm progression rate, consistent with a biological continuum of increasing JAK 2V617f mutation burden across increasing severity of myeloplasm from no disease to primary myelofibrosis.
Journal ArticleDOI
Genetic and epigenetic alterations induced by bisphenol A exposure during different periods of spermatogenesis: from spermatozoa to the progeny
TL;DR: BPA male exposure jeopardizes embryonic survival and development due to the transmission of a paternal damaged genome and of a hyper-acetylated histone profile, both alterations depending on the dose of the toxicant and the temporal window of exposure.
References
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Journal ArticleDOI
Janus kinases: components of multiple signaling pathways
Sushil G. Rane,E P Reddy +1 more
TL;DR: It has been found that JAK kinase function is required for optimal activation of the Src-kinase cascade, the Ras-MAP kinase pathway, the PI3K-AKT pathway and STAT signaling following the interaction of cytokine/interferon receptors with their ligands.
Journal ArticleDOI
JAK2 haplotype is a major risk factor for the development of myeloproliferative neoplasms.
Amy V. Jones,Andrew Chase,Richard T. Silver,David Oscier,Katerina Zoi,Y. Lynn Wang,Holger Cario,Heike L. Pahl,Andrew Collins,Andreas Reiter,Francis H. Grand,Nicholas C.P. Cross +11 more
TL;DR: It is reported here that JAK2V617F-associated disease is strongly associated with a specific constitutional Jak2 haplotype, designated 46/1, in all three disease entities compared to healthy controls and provides a model whereby a constitutional genetic factor is associated with an increased risk of acquiring a specific somatic mutation.
Journal ArticleDOI
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
TL;DR: Genome-wide analysis identified an allele in the JAK2 locus that predisposes to the development ofJAK2V617F-positive MPN, as well as three previously unknown MPN modifier loci, which suggest that germline variation is an important contributor to MPN phenotype and predisposition.
Journal ArticleDOI
Genetic and clinical implications of the Val617Phe JAK2 mutation in 72 families with myeloproliferative disorders
Christine Bellanné-Chantelot,Isabelle Chaumarel,Myriam Labopin,Florence Bellanger,Véronique Barbu,Claudia de Toma,François Delhommeau,Nicole Casadevall,William Vainchenker,Gilles Thomas,Albert Najman +10 more
TL;DR: The analysis of the hematologic profile showed that the homozygous JAK2 mutation confers a proliferative advantage and is associated with the progression of thehematologic disease.
Journal Article
Increased risks of polycythemia vera, essential thrombocythemia, and myelofibrosis among 24 577 first-degree relatives of 11 039 patients with myeloproliferative neoplasms in Sweden. Commentary
Jerry L. Spivak,Ola Landgren,Lynn R. Goldin,Sigurdur Y. Kristinsson,Elin A. Helgadottir,Jan Samuelsson,Magnus Björkholm +6 more
TL;DR: In this article, the relative risks of myeloproliferative neoplasms (MPNs), including polycythemia vera (PV), essential thrombocythemia (ET), and myelofibrosis (MF), were calculated using a marginal survival model and 95% confidence intervals as measures of familial aggregation.
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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