Germline RBBP6 mutations in familial myeloproliferative neoplasms.
نویسندگان
چکیده
Ashot S. Harutyunyan, Roberto Giambruno, Christian Krendl, Alexey Stukalov, Thorsten Klampfl, Tiina Berg, Doris Chen, Jelena D. Milosevic Feenstra, Roland Jäger, Bettina Gisslinger, Heinz Gisslinger, Elisa Rumi, Francesco Passamonti, Daniela Pietra, André C. Müller, Katja Parapatics, Florian P. Breitwieser, Richard Herrmann, Jacques Colinge, Keiryn L. Bennett, Giulio Superti-Furga, Mario Cazzola, Emma Hammond, Robert Kralovics
منابع مشابه
The role of the JAK2 GGCC haplotype and the TET2 gene in familial myeloproliferative neoplasms.
BACKGROUND Myeloproliferative neoplasms constitute a group of diverse chronic myeloid malignancies that share pathogenic features such as acquired mutations in the JAK2, TET2, CBL and MPL genes. There are recent reports that a JAK2 gene haplotype (GGCC or 46/1) confers susceptibility to JAK2 mutation-positive myeloproliferative neoplasms. The aim of this study was to examine the role of the JAK...
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Myeloid neoplasms include myelodysplastic/ myeloproliferative neoplasms (MDS/MPN) and acute myeloid leukemia (AML). While majority of these disorders are still sporadic, it is becoming clear that a subset of them have a germline predisposition and is familial in nature. With the advancement and integration of molecular studies, it has been recognized that approximately 5-10% of hematological ma...
متن کاملA novel activating, germline JAK2 mutation, JAK2R564Q, causes familial essential thrombocytosis.
Along with the most common mutation, JAK2V617F, several other acquired JAK2 mutations have now been shown to contribute to the pathogenesis of myeloproliferative neoplasms (MPNs). However, here we describe for the first time a germline mutation that leads to familial thrombocytosis that involves a residue other than Val617. The novel mutation JAK2R564Q, identified in a family with autosomal dom...
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The human retinoblastoma binding protein 6 (RBBP6) is implicated in esophageal, lung, hepatocellular and colon cancers. Furthermore, RBBP6 was identified as a strong marker for colon cancer prognosis and as a predisposing factor in familial myeloproliferative neoplasms. Functionally, the mammalian protein interacts with p53 and enhances the activity of Mdm2, the prototypical negative regulator ...
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RBBP6 (retinoblastoma binding protein 6, also known as PACT or P2P-R in humans) is a multi-domain protein that functions in multiple processes, such as mitosis, cell differentiation, and cell apoptosis. RBBP6 is evolutionarily conserved and is present in unicellular organisms to mammals. Studies of RBBP6 have mostly focused on its RB- and p53-binding domains, which are found exclusively in mamm...
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ورودعنوان ژورنال:
- Blood
دوره 127 3 شماره
صفحات -
تاریخ انتشار 2016