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Articles by Anna E. Marneth
Mutant SRSF2-associated impaired erythropoiesis is defined by increased mTORC1 signaling due to FYN missplicing - Leukemia
Abstract Somatic mutations in RNA splicing regulators, including the serine/arginine-rich protein SRSF2, are frequently observed in myeloid malignancies. Using mouse models and primary human samples, we investigated the impact of SRSF2 mutations on erythropoiesis. We found reduced erythropoiesis in Srsf2P95H versus wild-type mice upon stress-induced erythropoiesis and identified that SRSF2 mutations correlate with reduced hemoglobin in JAK2-mutant patients with myeloproliferative neoplasms (MPN).
Risk stratification of patients with TP53-mutated myeloproliferative neoplasms - Leukemia
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Abstract While TP53 mutations in myeloproliferative neoplasms (MPN) are associated with an increased risk of leukemic transformation, not all patients carrying a TP53 mutation progress. To better risk-stratify MPN patients with TP53 mutations, we analyzed data from 1540 patients treated at four specialized cancer centers. Among them, 1429 had wildtype TP53 and 111 had mutations in the TP53 gene.
By Benjamin Rolles, Nathan Fergusson, Jan Philipp Bewersdorf, Julia M Keating, Cecelia Perkins, Matthew Schwede, James England, Marlise R. Luskin, Daniel DeAngelo, Shai Shimony, Mifra Faiz, Addison C. Hillerbrand, Chulwoo Kim, Lachelle D. Weeks, Lauren Waldman, Mohammed Wazir, Joan How, Anna E. Marneth, Yiwen Liu, Martin J. Aryee, Raajit Rampal, Harrison K. Tsai, Jason Gotlib, Vikas Gupta, Maximilian Stahl, Ann Mullally
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Nature
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Mutations, inflammation and phenotype of myeloproliferative neoplasms
Sylvie Hermouet1,2* 1Nantes Université, INSERM, Immunology and New Concepts in ImmunoTherapy, INCIT, UMR 1302, Nantes, France 2Laboratoire d’Hématologie, CHU Nantes, Nantes, France Knowledge on the myeloproliferative neoplasms (MPNs) – polycythemia vera (PV), essential thrombocythemia (ET), primary myelofibrosis (PMF) – has accumulated since the discovery of the JAK/STAT-activating mutations associated with MPNs: JAK2V617F, observed in PV, ET and PMF; and the MPL and CALR mutations, found in...
CALR-mutated cells are vulnerable to combined inhibition of the proteasome and the endoplasmic reticulum stress response - Leukemia
Abstract Cancer is driven by somatic mutations that provide a fitness advantage. While targeted therapies often focus on the mutated gene or its direct downstream effectors, imbalances brought on by cell-state alterations may also confer unique vulnerabilities.
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