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
More filters
Journal ArticleDOI
Paternal factors and embryonic development: Role in recurrent pregnancy loss
TL;DR: The present case–control study was conducted in male partners of couples experiencing recurrent pregnancy loss to assess the gene expression of spermatozoal FOXG1, SOX3, OGG1, PARP1, RPS6, RBM9, R PS17 and RPL29 and showed a significant difference between patients and controls.
Journal ArticleDOI
Tolerance to paternal genotoxic damage promotes survival during embryo development in zebrafish (Danio rerio).
TL;DR: In fish embryos, genomic instability generated by fertilization with DNA damaged sperm activates mechanisms of DNA damage tolerance, which seems to be mediated by Δ113p53 expression, promoting survival.
Book ChapterDOI
Meiotic Nondisjunction: Insights into the Origin and Significance of Aneuploidy in Human Spermatozoa.
TL;DR: The main focus of this chapter is to provide insights into the origin and clinical relevance of paternally derived aneuploidy, and how numerical and structural chromosome aberrations may lead to clinically relevant aneuPLoidy potentially resulting in pregnancy loss, congenital malformations, and cognitive impairment.
Journal ArticleDOI
Biochemical alterations in the oocyte in support of early embryonic development.
TL;DR: This review seeks to explore the intimate relationship between Ca2+ release and the suite of molecular modifications that sweep through the oocyte to ensure the successful union of the parental germlines and ensure embryogenic fidelity.
Journal ArticleDOI
The JAK2 46/1 haplotype (GGCC) in myeloproliferative neoplasms and splanchnic vein thrombosis: a pooled analysis of 26 observational studies
TL;DR: New evidence is provided supporting the conclusion that the JAK2 46/1 haplotype enrichment is significantly associated with the development of MPNs and SVT in these patients.
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