Search Results - "Nédélec, Audrey"
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Modulation of human thrombopoietin receptor conformations uncouples JAK2 V617F-driven activation from cytokine-induced stimulation
Published in Blood (23-11-2023)“…•JAK2 V617F and Tpo induce dimerization of hTpoR in different dimeric conformations.•Modulation of hTpoR allows specific inhibition of JAK2 V617F–driven…”
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Noonan syndrome-causing SHP2 mutants inhibit insulin-like growth factor 1 release via growth hormone-induced ERK hyperactivation, which contributes to short stature
Published in Proceedings of the National Academy of Sciences - PNAS (13-03-2012)“…Noonan syndrome (NS), a genetic disease caused in half of cases by activating mutations of the tyrosine phosphatase SHP2 (PTPN11), is characterized by…”
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LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity
Published in Proceedings of the National Academy of Sciences - PNAS (21-10-2014)“…Significance LEOPARD syndrome (multiple L entigines, E lectrocardiographic conduction abnormalities, O cular hypertelorism, P ulmonary stenosis, A bnormal…”
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4
Calreticulin del52 and ins5 knock-in mice recapitulate different myeloproliferative phenotypes observed in patients with MPN
Published in Nature communications (28-09-2020)“…Somatic mutations in the calreticulin ( CALR ) gene are associated with approximately 30% of essential thrombocythemia (ET) and primary myelofibrosis (PMF)…”
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Oncogenic CALR mutant C-terminus mediates dual binding to the thrombopoietin receptor triggering complex dimerization and activation
Published in Nature communications (05-04-2023)“…Calreticulin (CALR) frameshift mutations represent the second cause of myeloproliferative neoplasms (MPN). In healthy cells, CALR transiently and…”
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Functional Effects of PTPN11 (SHP2) Mutations Causing LEOPARD Syndrome on Epidermal Growth Factor-Induced Phosphoinositide 3-Kinase/AKT/Glycogen Synthase Kinase 3β Signaling
Published in Molecular and Cellular Biology (15-05-2010)“…Article Usage Stats Services MCB Citing Articles Google Scholar PubMed Related Content Social Bookmarking CiteULike Delicious Digg Facebook Google+ Mendeley…”
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Penttinen syndrome‐associated PDGFRB Val665Ala variant causes aberrant constitutive STAT1 signalling
Published in Journal of cellular and molecular medicine (01-07-2022)“…Penttinen syndrome is a rare progeroid disorder caused by mutations in platelet‐derived growth factor (PDGF) receptor beta (encoded by the PDGFRB…”
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Modulation of the Human Thrombopoietin Receptor Conformation Uncouples JAK2 V617F-Driven from Cytokine-Induced Activation
Published in Blood (15-11-2022)Get full text
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9
LEOPARD syndrome-associated SHP2 mutation confers leanness and protection from diet-induced obesity
Published in Proceedings of the National Academy of Sciences - PNAS (21-10-2014)Get full text
Journal Article -
10
Hematoxylin binds to mutant calreticulin and disrupts its abnormal interaction with thrombopoietin receptor
Published in Blood (08-04-2021)“…Somatic mutations of calreticulin (CALR) have been identified as a main disease driver of myeloproliferative neoplasms, suggesting that development of drugs…”
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Functional effects of PTPN11 (SHP2) mutations causing LEOPARD syndrome on epidermal growth factor-induced phosphoinositide 3-kinase/AKT/glycogen synthase kinase 3beta signaling
Published in Molecular and cellular biology (01-05-2010)“…LEOPARD syndrome (LS), a disorder with multiple developmental abnormalities, is mainly due to mutations that impair the activity of the tyrosine phosphatase…”
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