Relevant bibliographies by topics / JAK2 46

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  1. Journal articles
  2. Dissertations / Theses
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  4. Conference papers

Academic literature on the topic 'JAK2 46'

Author: Grafiati
Published: 10 March 2023
Last updated: 31 July 2025

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Journal articles on the topic "JAK2 46"

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Xu, Lichao, Ding Zhang, Guoqiang Wang, et al. "Correlation between JAK1/2 expression and immune-related genes and JAK2 gene variants: A pan-cancer analysis." Journal of Clinical Oncology 38, no. 15_suppl (2020): e15057-e15057. http://dx.doi.org/10.1200/jco.2020.38.15_suppl.e15057.

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e15057 Background: Loss of function mutations for Janus kinases 1/2 (JAK1/2) have shown to be the underling mechanism of primary resistance to immune checkpoint inhibitors (ICIs). However, the correlation between JAK1/2 expression and immune-related genes have not been studied. Methods: Survival, mRNA expression and whole-exome sequencing data from 32 pan-cancer atlas studies were obtained from The Cancer Genome Atlas (TCGA). Correlations between JAK1/2 expression and immune-related genes were depicted in heatmaps. We also analyzed the association between JAK2 gene variants and JAK2 expression
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Pacilli, Annalisa, Paola Guglielmelli, Tiziana Fanelli, et al. "JAK2V617F Clonal Architecture in MPNs during JAK2 Inhibitor Treatment." Blood 126, no. 23 (2015): 1630. http://dx.doi.org/10.1182/blood.v126.23.1630.1630.

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Abstract Introduction The Myeloproliferative Neoplasms (MPNs) are characterized by a recurrent point mutation of JAK2 gene (JAK2 V617F). This mutation, which usually affects only one of the JAK2 gene alleles in Essential Thrombocythemia (ET), frequently becomes homozygous in Polycythemia Vera (PV) and Myelofibrosis (MF) due to homologous mitotic recombination. A JAK2 V617F-mutated disease is strongly associated with a specific constitutional JAK2 haplotype, designated 46/1(GGCC), (Nat Genet 2009; 41:446) with complete linkage disequilibrium although the risk of developing MPNs is independent o
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Cross, Nicholas C. P., Peter Campbell, Philip A. Beer, et al. "The JAK2 46/1 Haplotype Predisposes to Myeloproliferative Neoplasms Characterized by Diverse Mutations." Blood 114, no. 22 (2009): 433. http://dx.doi.org/10.1182/blood.v114.22.433.433.

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Abstract Abstract 433 A common constitutional JAK2 haplotype termed 46/1 (also known as GGCC) predisposes to V617F JAK2-positive myeloproliferative neoplasms (MPN) but the underlying mechanism is obscure. Two hypotheses have been postulated: (i) ‘hypermutability' of JAK2 on 46/1 compared to other haplotypes and (ii) a functional difference of JAK2 on 46/1 that positively interacts with V617F and thus provides ‘fertile ground' for development of an MPN. To investigate these possibilities we analyzed patients with essential thrombocythemia entered into the PT-1 studies. As expected, 46/1 was hig
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Vilaine, Mathias, Damla Olcaydu, Ashot Harutyunyan, et al. "Homologous Recombination of Wild TYPE JAK2, A NOVEL EARLY STEP In the DEVELOPMENT of Myeloproliferative Neoplasm." Blood 118, no. 21 (2011): 2805. http://dx.doi.org/10.1182/blood.v118.21.2805.2805.

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Abstract Abstract 2805 Background: Adequate expression and function of Jak2 in hematopoietic progenitors is critical for normal myelopoiesis. The JAK2 46/1 (GGCC) haplotype, a congenital particularity, predisposes to myeloproliferative neoplasm (MPN) both independently and through mutation of the JAK2 gene. The JAK2 V617F mutation and acquired homozygous status for JAK2 V617F are frequent in MPN. JAK2 V617F homozygosity is currently explained acquisition of the JAK2 V617F mutation followed by mitotic homologous recombination (HR) of JAK2 occurred between wild-type and mutant alleles, leading t
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Jones, Amy V., Peter J. Campbell, Philip A. Beer, et al. "The JAK2 46/1 haplotype predisposes to MPL-mutated myeloproliferative neoplasms." Blood 115, no. 22 (2010): 4517–23. http://dx.doi.org/10.1182/blood-2009-08-236448.

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Abstract The 46/1 JAK2 haplotype predisposes to V617F-positive myeloproliferative neoplasms, but the underlying mechanism is obscure. We analyzed essential thrombocythemia patients entered into the PT-1 studies and, as expected, found that 46/1 was overrepresented in V617F-positive cases (n = 404) versus controls (n = 1492, P = 3.9 × 10−11). The 46/1 haplotype was also overrepresented in cases without V617F (n = 347, P = .009), with an excess seen for both MPL exon 10 mutated and V617F, MPL exon 10 nonmutated cases. Analysis of further MPL-positive, V617F-negative cases confirmed an excess of
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Olkhovskiy, I. А., M. A. Stolyar, Yu Yu Komarovskiy, et al. "Study of the Janus kinase 2 (JAK2) gene haplotype 46/1 association with driver mutations of chronic Ph-negative myeloproliferative neoplasms." Russian journal of hematology and transfusiology 67, no. 3 (2022): 377–87. http://dx.doi.org/10.35754/0234-5730-2022-67-3-377-387.

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Introduction. Haplotype JAK2 46/1 is associated with more frequent development of Ph-negative myeloproliferative neoplasms (MPN) and with an increased detection rate of the JAK2 V617F mutation. At the same time, the molecular mechanisms of such associations remain unclear. Previously, there were no studies of regional, age and gender aspects of the predictive value of carriage of the 46/1 JAK2 haplotype, which could assess this relationship in some observations.Aim — to analyze the degree of association between 46/1 haplotype and the V617F mutation of the JAK2 gene depending on the sex, age, a
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Al-Ammari, Maged, Abdul Ali Peer Zada, Ibraheem H. Motabi, et al. "JAK2 GGCC (46/1) Haplotype in Unprovoked Venous Thrombotic Events." Blood 138, Supplement 1 (2021): 4258. http://dx.doi.org/10.1182/blood-2021-149560.

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Abstract Background: JAK2 GGCC 46/1 haplotype can be represented by four main SNPs (rs3780367, rs10974944, rs12343867, and rs1159782) which replace one cytosine and three thymidines by two guanosines and two cytosines, generating a "GGCC" combination. These four SNPs located on JAK2 introns 10, 12, 14, and 15, respectively, and are always inherited together, being in complete linkage disequilibrium. The 46/1 component of the name came from Jones et al. study where the haplotype structure of the JAK2 gene was mapped using 14 SNPs genotyped by the Wellcome Trust Case Control Consortium (WTCCC) i
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Smalberg, Jasper, Edith Koehler, Sarwa Darwish Murad, et al. "JAK2 Germline Genetic Variation In Budd-Chiari Syndrome and Portal Vein Thrombosis." Blood 116, no. 21 (2010): 4212. http://dx.doi.org/10.1182/blood.v116.21.4212.4212.

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Abstract Abstract 4212 Primary Budd-Chiari syndrome (BCS) and non-malignant, non-cirrhotic portal vein thrombosis (PVT) are rare disorders with a considerable overlap in etiology. Myeloproliferative neoplasms (MPN) are the most frequent underlying prothrombotic factor in both entities. The JAK2 V617F mutation (VF) has been identified in over half of the individuals with MPN. Recently, a JAK2 haplotype, designated ‘46/1’, has been described. Previous studies suggest that the JAK2 46/1 haplotype represents a disease susceptibility to MPN, independent of VF status. The aim of this study was to de
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Tefferi, Ayalew, Terra L. Lasho, Christy Finke, et al. "The Germline JAK2 GGCC (46/1) Haplotype and Survival Among 414 Molecularly-Annotated Patients with Primary Myelofibrosis." Blood 132, Supplement 1 (2018): 1761. http://dx.doi.org/10.1182/blood-2018-99-110046.

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Abstract Background: We have long introduced the concept of host genetic variations in the phenotypic diversity of myeloproliferative neoplasms (MPN) (Blood 2008;111:2785). Previous studies have established an association between JAK2 mutations in myeloproliferative neoplasms (MPN) and the germline GGCC (46/1) haplotype, which constitutes a string of single nucleotide polymorphisms (SNPs) near the JAK2 gene that are inherited together on chromosome 9p (reviewed recently;Int J Mol Sci. 2018; 19: 1152). In 2010, we reported an association between shortened survival in primary myelofibrosis (PMF)
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Yahya Belmokhtar, Karam, Mounia Elidrissi Errahhali, Saida Lhousni, et al. "JAK2 mutational status and the contribution of TERT and JAK2 polymorphisms to the occurrence of myeloproliferative neoplasms in Eastern Morocco." African Health Sciences 24, no. 3 (2024): 138–46. http://dx.doi.org/10.4314/ahs.v24i3.18.

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Background: The JAK2 V617F somatic mutation is a hallmark of myeloproliferative neoplasms (MPN) and is present in some patients with splanchnic venous thrombosis (SVT). Objectives: We investigated for the first time in Eastern Morocco the JAK2 mutational status and germline risk factors, such as the TERT and JAK2 polymorphisms, in MPN and SVT patients. Methods: This study included 38 patients with MPN, 24 patients presenting with SVT and 60 healthy donors from the BRO Biobank. JAK2 mutations were analyzed using qPCR and Sanger sequencing. Predisposing polymorphisms to MPN were evaluated using
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Dissertations / Theses on the topic "JAK2 46"

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SPOLVERINI, AMBRA. "Analysis of polymorphic variants and new mutations in patients with Chronic Myeloporiliferative Neoplasms." Doctoral thesis, 2013. http://hdl.handle.net/2158/796256.

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Studio del possibile ruolo dell'aplotipo 46/1 del gene JAK2 nella predisposizione allo sviluppo di leucemia mieloide cronica. Studio della frequenza di casi di LMC che presentano oltre al trascritto di fusione BCR/ABL la mutazione JAK2V617F. Studio del possibile ruolo di un aplotipo della regione 12q24 nella predisposizione genetica allo sviluppo di neoplasie mieloproliferative. Studio dell'incidenza di mutazioni di LNK in pazienti con eritrocitosi idiopatica. Studio del possibile ruolo delle proteine 14-3-3 nella patogenesi delle neoplasie mieloproliferative
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Book chapters on the topic "JAK2 46"

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Zatorska, Agnieszka. "O strukturach z czasownikami cogitandi i sentiendi oraz ich funkcjach w powieści Bez dogmatu Henryka Sienkiewicza." In Filologia jako porządkowanie chaosu. Wydawnictwo Uniwersytetu Łódzkiego, 2018. https://doi.org/10.18778/8142-402-8.21.

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Artykuł dotyczy zbioru czasowników cogitandi i sentiendi, wyekscerpowanych z powieści Bez dogmatu H. Sienkiewicza. Analiza obejmuje 500 okurencji 118 leksemów czasownikowych — 46 cogitandi oraz 72 sentiendi. Melodramatyczna fabuła powieści i forma pamiętnika pozwalały spodziewać się wysokiej frekwencji tychże czasowników. Czasowniki cogitandi są częstsze, ale zbiór czasowników uczuć w analizowanych fragmentach powieści jest bogatszy i bardziej zróżnicowany. Analiza językoznawcza pokazała, w jaki sposób pisarz poprzez stylistyczne wybory ukazał wewnętrzny świat (myśli, wspomnień i uczuć) główne
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Klimkowski, Marceli. "Profesor Danuta Kądzielawa a kształtowanie się neuropsychologii jako dziedziny neuronauk..." In Studia z neuropsychologii klinicznej. Na 45-lecie pracy zawodowej Profesor Danuty Kądzielawy. Warsaw University Press, 2014. http://dx.doi.org/10.31338/uw.9788323514442.pp.46-50.

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Cegiełka, Anna. "Słownik jako tekst kultury określonego czasu – na przykładzie wybranych słowników języka angielskiego." In Leksykografia w różnych kontekstach. Tom 2. Warsaw University Press, 2020. http://dx.doi.org/10.31338/uw.9788323541677.pp.35-46.

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Kozioł, Kamila. "Traktat Naehun jako kanon nauk moralnych dla kobiet i jego znaczenie w XV-wiecznej Korei." In Koreańskie światy kobiet – między dziedzictwem konfucjanizmu a wyzwaniami współczesności. University of Warsaw Press, 2019. http://dx.doi.org/10.31338/uw.9788323539001.pp.13-46.

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Conference papers on the topic "JAK2 46"

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Queiroz, Vitor Carvalho de, Perla Vicari, Bruna Borrego Perez, et al. "Síndrome hipereosinofílica e t(5; 15): relato de caso e revisão da literatura." In Resumos do 56º Congresso Brasileiro de Patologia Clínica/Medicina Laboratorial. Zeppelini Editorial e Comunicação, 2024. https://doi.org/10.5327/1516-3180.142s1.11399.

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Objetivo: A síndrome hipereosinofílica é uma desordem mieloproliferativa caracterizada por eosinofilia persistente, classificada em primária/clonal, reagente e idiopática. Após descartadas causas secundárias de eosinofilia, as principais hipóteses passam a ser doenças onco-hematológicas, por exemplo, as neoplasias mieloides/linfoides associadas à eosinofilia e o rearranjo de PDGFRA, FDGFRB, FGFR1 ou PCM1-JAK2 e a leucemia eosinofílica crônica. O objetivo deste estudo foi descrever um relato de caso raro de síndrome hipereosinofílica com t(5;15) (q33;q22) e suas implicações. Método: Paciente do
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Murgaš, František. "Kvalita místa jako vyjádření objektivní dimenze kvality života." In XXI. mezinárodní kolokvium o regionálních vědách. Masarykova univerzita, 2018. http://dx.doi.org/10.5817/cz.muni.p210-8970-2018-46.

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