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Germline duplication of ATG2B and GSKIP predisposes to familial myeloid malignancies
No major predisposition gene for familial myeloproliferative neoplasms (MPN) has been identified. Here we demonstrate that the autosomal dominant transmission of a 700-kb duplication in fourExpand
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Myeloproliferative neoplasms: JAK2 signaling pathway as a central target for therapy.
The discovery of the JAK2V617F mutation followed by the discovery of other genetic abnormalities allowed important progress in the understanding of the pathogenesis and management ofExpand
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TET2-mediated 5-hydroxymethylcytosine induces genetic instability and mutagenesis.
The family of Ten-Eleven Translocation (TET) proteins is implicated in the process of active DNA demethylation and thus in epigenetic regulation. TET 1, 2 and 3 proteins are oxygenases that canExpand
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Heterozygous and Homozygous JAK2V617F States Modeled by Induced Pluripotent Stem Cells from Myeloproliferative Neoplasm Patients
JAK2V617F is the predominant mutation in myeloproliferative neoplasms (MPN). Modeling MPN in a human context might be helpful for the screening of molecules targeting JAK2 and its intracellularExpand
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Protection and reversal of hepatic fibrosis by red wine polyphenols in hyperhomocysteinemic mice.
Hyperhomocysteinemia leads to several clinical manifestations and, particularly, liver disease. Lowering homocysteine through nutrition or other means might offer preventive or therapeutic benefits.Expand
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Modeling JAK2V617F Heterozygous and Homozygous Mutations by Using Induced Pluripotent Stem Cells Derived From Myeloproliferative Neoplasms Patients
Abstract 1758 During the last several years, iPS cells have been described as a new powerful tool for disease modeling and drug screening. It became possible to reprogram adult patients cells intoExpand
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Propriétés et rôles biologiques des protéines TET au cours du développement et de l’hématopoïèse
La methylation de l’ADN est associee a de nombreux processus biologiques et concerne la methylation de la cytosine en position 5 (5-mC). Un mecanisme actif de demethylation, jusqu’alors discute, aExpand
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[Properties and biological roles of TET proteins during embryogenesis and in hematopoiesis].
DNA methylation is associated with a large number of biological processes and mainly concerns the cytosine methylation at position 5 (5-mC). An active demethylation mechanism was highlighted in 2009Expand
Modélisation des néoplasmes myéloprolifératifs grâce aux cellules souches induites à la pluripotence (IPSC)
Les neoplasmes myeloproliferatifs (NMP) sont hemopathies malignes aboutissant a la surproduction d'une ou plusieurs lignees myeloides. Elles sont dues a l'acquisition de mutations sur l'axe deExpand
TET2 haploinsufficiency alters reprogramming into induced pluripotent stem cells.
The discovery of the Ten-Eleven Translocation (TET) protein family was initiated by the identification of the MLL partner TET1, and of mutations in the TET2 gene in hematological malignanciesExpand