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22 results on '"Toussaint, Aurélie"'

1. Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors

Author

Marty, Caroline, Saint-Martin, Cécile, Pecquet, Christian, Grosjean, Sarah, Saliba, Joseph, Mouton, Céline, Leroy, Emilie, Harutyunyan, Ashot S., Abgrall, Jean-François, Favier, Rémi, Toussaint, Aurélie, Solary, Eric, Kralovics, Robert, Constantinescu, Stefan N., Najman, Albert, Vainchenker, William, Plo, Isabelle, and Bellanné-Chantelot, Christine

Published
2014
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2. Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1 Pathogenic Splicing Variant

Author

Huby, Thomas, primary, Le Guillou, Edouard, additional, Burin des Roziers, Cyril, additional, Pacot, Laurence, additional, Briand-Suleau, Audrey, additional, Chansavang, Albain, additional, Toussaint, Aurélie, additional, Duchossoy, Véronique, additional, Vaucouleur, Nicolas, additional, Benoit, Virginie, additional, Lodé, Laurence, additional, Molac, Clémence, additional, North, Marie-Odile, additional, Grotto, Sarah, additional, Tsatsaris, Vassilis, additional, Jouinot, Anne, additional, Cochand-Priollet, Béatrix, additional, Paepegaey, Anne-Cécile, additional, Nectoux, Juliette, additional, Groussin, Lionel, additional, and Pasmant, Eric, additional

Published
2021
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3. Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1 Pathogenic Splicing Variant.

Author

Huby, Thomas, Guillou, Edouard Le, des Roziers, Cyril Burin, Pacot, Laurence, Briand-Suleau, Audrey, Chansavang, Albain, Toussaint, Aurélie, Duchossoy, Véronique, Vaucouleur, Nicolas, Benoit, Virginie, Lodé, Laurence, Molac, Clémence, North, Marie-Odile, Grotto, Sarah, Tsatsaris, Vassilis, Jouinot, Anne, Cochand-Priollet, Béatrix, Paepegaey, Anne-Cécile, Nectoux, Juliette, and Groussin, Lionel

Abstract

Context: Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant disease caused by mutations in the tumor suppressor gene MEN1. The uncertainty of pathogenicity of MEN1 variants complexifies the selection of the patients likely to benefit from specific care. Objective: MEN1-mutated patients should be offered tailored tumor screening and genetic counseling. We present a patient with hyperparathyroidism for whom genetic analysis identified a variant of uncertain significance in the MEN1 gene (NM_130799.2): c.654G > T p.(Arg218=). Additional functional genetic tests were performed to classify the variant as pathogenic and allowed prenatal testing. Design: Targeted next generation sequencing identified a synonymous variant in the MEN1 gene in a 26-year-old male with symptomatic primary hyperparathyroidism. In silico and in vitro genetic tests were performed to assess variant pathogenicity. Results: Genetic testing of the proband’s unaffected parents showed the variant occurred de novo. Transcript study showed a splicing defect leading to an in-frame deletion. The classification of the MEN1 variant as pathogenic confirmed the diagnosis of MEN1 and recommended an adapted medical care and follow-up. Pathogenic classification also allowed to propose a genetic counseling to the proband and his wife. Noninvasive prenatal diagnosis was performed with a personalized medicine-based protocol by detection of the paternally inherited variant in maternal plasmatic cell free DNA, using digital PCR. Conclusion: We showed that functional genetic analysis can help to assess the pathogenicity of a MEN1 variant with crucial consequences for medical care and genetic counseling decisions. [ABSTRACT FROM AUTHOR]

Published
2022
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4. Noninvasive Prenatal Diagnosis of a Paternally Inherited MEN1Pathogenic Splicing Variant

Author

Huby, Thomas, Le Guillou, Edouard, Burin des Roziers, Cyril, Pacot, Laurence, Briand-Suleau, Audrey, Chansavang, Albain, Toussaint, Aurélie, Duchossoy, Véronique, Vaucouleur, Nicolas, Benoit, Virginie, Lodé, Laurence, Molac, Clémence, North, Marie-Odile, Grotto, Sarah, Tsatsaris, Vassilis, Jouinot, Anne, Cochand-Priollet, Béatrix, Paepegaey, Anne-Cécile, Nectoux, Juliette, Groussin, Lionel, and Pasmant, Eric

Published
2022
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6. The Case | Epistasis and urolithiasis

Author

Tabibzadeh, Nathalie, primary, Cheddani, Lynda, additional, Daudon, Michel, additional, Haymann, Jean-Philippe, additional, Toussaint, Aurélie, additional, Silve, Caroline, additional, and Letavernier, Emmanuel, additional

Published
2017
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7. Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets

Author

Ben Ameur, Salma, primary, Silve, Caroline, additional, Chabchoub, Imene, additional, Damak, Fatma, additional, Kamoun, Fatma, additional, Toussaint, Aurélie, additional, Kmiha, Sana, additional, Sfaihi, Lamia, additional, Maaloul, Ines, additional, Kamoun, Thouraya, additional, Aloulou, Hajer, additional, and Hachicha, Mongia, additional

Published
2016
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8. Germ-line JAK2 mutations in the kinase domain are responsible for hereditary thrombocytosis and are resistant to JAK2 and HSP90 inhibitors.

Author

UCL - SSS/DDUV - Institut de Duve, Marty, Caroline, Saint-Martin, Cécile, Pecquet, Christian, Grosjean, Sarah, Saliba, Joseph, Mouton, Céline, Leroy, Emilie, Harutyunyan, Ashot S, Abgrall, Jean-François, Favier, Rémi, Toussaint, Aurélie, Solary, Eric, Kralovics, Robert, Constantinescu, Stefan N., Najman, Albert, Vainchenker, William, Plo, Isabelle, Bellanné-Chantelot, Christine, UCL - SSS/DDUV - Institut de Duve, Marty, Caroline, Saint-Martin, Cécile, Pecquet, Christian, Grosjean, Sarah, Saliba, Joseph, Mouton, Céline, Leroy, Emilie, Harutyunyan, Ashot S, Abgrall, Jean-François, Favier, Rémi, Toussaint, Aurélie, Solary, Eric, Kralovics, Robert, Constantinescu, Stefan N., Najman, Albert, Vainchenker, William, Plo, Isabelle, and Bellanné-Chantelot, Christine

Abstract

The main molecular basis of essential thrombocythemia and hereditary thrombocytosis is acquired, and germ-line-activating mutations affect the thrombopoietin signaling axis. We have identified 2 families with hereditary thrombocytosis presenting novel heterozygous germ-line mutations of JAK2. One family carries the JAK2 R867Q mutation located in the kinase domain, whereas the other presents 2 JAK2 mutations, S755R/R938Q, located in cis in both the pseudokinase and kinase domains. Expression of Janus kinase 2 (JAK2) R867Q and S755R/R938Q induced spontaneous growth of Ba/F3-thrombopoietin receptor (MPL) but not of Ba/F3-human receptor of erythropoietin cells. Interestingly, both Ba/F3-MPL cells expressing the mutants and platelets from patients displayed thrombopoietin-independent phosphorylation of signal transducer and activator of transcription 1. The JAK2 R867Q and S755R/R938Q proteins had significantly longer half-lives compared with JAK2 V617F. The longer half-lives correlated with increased binding to the heat shock protein 90 (HSP90) chaperone and with higher MPL cell-surface expression. Moreover, these mutants were less sensitive to JAK2 and HSP90 inhibitors than JAK2 V617F. Our results suggest that the mutations in the kinase domain of JAK2 may confer a weak activation of signaling specifically dependent on MPL while inducing a decreased sensitivity to clinically available JAK2 inhibitors.

Published
2014

10. Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets.

Author

Ben ameur, Salma, Silve, Caroline, Chabchoub, Imene, Damak, Fatma, Kamoun, Fatma, Toussaint, aurélie, Kmiha, Sana, Sfaihi, Lamia, Maaloul, Ines, Kamoun, Thouraya, aloulou, Hajer, and Hachicha, Mongia

Subjects
VITAMIN D, VITAMIN D receptors, DNA-binding proteins
Abstract

Background: Hereditary vitamin D-resistant rickets (HVDRR) is an autosomal recessive disorder characterized by the early onset of rickets and is caused by mutations in the vitamin D receptor ( VDR ) gene. Some HVDRR patients also have alopecia. Patients and Methods: We retrospectively studied the clinical features, laboratory findings, genetic defects, as well as responses to treatment in a series of children with HVDRR. Results: Eight patients from 7 families met the inclusion criteria. Alopecia was noted in 7 patients. Two different homozygous mutations in the VDR gene were identified in 6 patients: the p.K45E mutation located in the DNA-binding domain (5 patients with alopecia) and a novel p.T415R mutation located in the ligand-binding domain. A p.E143del CYP24A1 mutation, in the gene encoding the 25-hydroxyvitamin D3-24-hydroxylase, was identified in 2 brothers carrying the VDR gene mutation p.K45E. Six patients were treated with intermittent intravenous calcium treatment via the peripheral route with a clear improvement in 5 cases. Conclusion: To the best of our knowledge, this is the first major series reporting on HVDRR in Tunisia. The same mutation (p.K45E) was found in 5 apparently unrelated affected individuals. We have also extended the mutation spectrum by studying 1 novel VDR mutation. [ABSTRACT FROM AUTHOR]

Published
2017
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11. Mutations in tubulin genes are frequent causes of various foetal malformations of cortical development including microlissencephaly

Author

Fallet-Bianco, Catherine, primary, Laquerrière, Annie, additional, Poirier, Karine, additional, Razavi, Ferechte, additional, Guimiot, Fabien, additional, Dias, Patricia, additional, Loeuillet, Laurence, additional, Lascelles, Karine, additional, Beldjord, Cherif, additional, Carion, Nathalie, additional, Toussaint, Aurélie, additional, Revencu, Nicole, additional, Addor, Marie-Claude, additional, Lhermitte, Benoit, additional, Gonzales, Marie, additional, Martinovich, Jelena, additional, Bessieres, Bettina, additional, Marcy-Bonnière, Maryse, additional, Jossic, Frédérique, additional, Marcorelles, Pascale, additional, Loget, Philippe, additional, Chelly, Jamel, additional, and Bahi-Buisson, Nadia, additional

Published
2014
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12. Erratum: Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

Author

Mercier, Sandra, primary, Toutain, Annick, additional, Toussaint, Aurélie, additional, Raynaud, Martine, additional, de Barace, Claire, additional, Marcorelles, Pascale, additional, Pasquier, Laurent, additional, Blayau, Martine, additional, Pénisson-Besnier, Isabelle, additional, Romero, Norma, additional, Espil, Caroline, additional, Parent, Philippe, additional, Journel, Hubert, additional, Lazaro, Leila, additional, Andoni Urtizberea, Jon, additional, Moerman, Alexandre, additional, Faivre, Laurence, additional, Eymard, Bruno, additional, Maincent, Kim, additional, Gherardi, Romain, additional, Chaigne, Denys, additional, Ben Yaou, Rabah, additional, Leturcq, France, additional, Chelly, Jamel, additional, and Desguerre, Isabelle, additional

Published
2013
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13. Custom oligonucleotide array-based CGH: a reliable diagnostic tool for detection of exonic copy-number changes in multiple targeted genes

Author

Vasson, Aurélie, primary, Leroux, Céline, additional, Orhant, Lucie, additional, Boimard, Mathieu, additional, Toussaint, Aurélie, additional, Leroy, Chrystel, additional, Commere, Virginie, additional, Ghiotti, Tiffany, additional, Deburgrave, Nathalie, additional, Saillour, Yoann, additional, Atlan, Isabelle, additional, Fouveaut, Corinne, additional, Beldjord, Cherif, additional, Valleix, Sophie, additional, Leturcq, France, additional, Dodé, Catherine, additional, Bienvenu, Thierry, additional, Chelly, Jamel, additional, and Cossée, Mireille, additional

Published
2013
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14. Genetic and clinical specificity of 26 symptomatic carriers for dystrophinopathies at pediatric age

Author

Mercier, Sandra, primary, Toutain, Annick, additional, Toussaint, Aurélie, additional, Raynaud, Martine, additional, de Barace, Claire, additional, Marcorelles, Pascale, additional, Pasquier, Laurent, additional, Blayau, Martine, additional, Espil, Caroline, additional, Parent, Philippe, additional, Journel, Hubert, additional, Lazaro, Leila, additional, Andoni Urtizberea, Jon, additional, Moerman, Alexandre, additional, Faivre, Laurence, additional, Eymard, Bruno, additional, Maincent, Kim, additional, Gherardi, Romain, additional, Chaigne, Denys, additional, Ben Yaou, Rabah, additional, Leturcq, France, additional, Chelly, Jamel, additional, and Desguerre, Isabelle, additional

Published
2013
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20. Asymmetric Henry Reactions Catalyzed by Metal Complexes of Chiral BoronBridged Bisoxazoline borabox Ligands

Author

Toussaint, Aurélie and Pfaltz, Andreas

Abstract

Metal complexes of boronbridged bisoxazolines borabox ligands were evaluated as catalysts for the Henry reaction. CopperII complexes induced high enantio and diastereoselectivity in reactions with nitroethane and nitropropane. The amount of base added had a strong influence on the formation of the chiral complex and the enantioselectivity. Comparison with the corresponding dimethylmethylenebridged bisoxazoline and other privileged ligands showed that borabox was the most suitable ligand system for the enantio and diastereoselective formation of nitroalcohols derived from nitropropane and aliphatic aldehydes.© WileyVCH Verlag GmbH & Co. KGaA, 69451 Weinheim, Germany, 2008

Published
2008
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21. Improved Method for the Iodine(III)-Mediated Preparation of Aryl Sulfonimidates

Author

Felim, Anne, Toussaint, Aurélie, R. Phillips, Courtney, Leca, Dominique, Vagstad, Anna, Fensterbank, Louis, Lacôte, Emmanuel, and Malacria, Max

Abstract

One-pot hypervalent iodine-mediated oxidations of arylsulfinamides to arylsulfonimidates is reported. Contrary to the case of alkylsulfinamides, use of iodosobenzene was not satisfactory. The reaction worked best with diacetoxyiodosobenzene (DIB) and a mild base (MgO). The influence of substituents on the iodine(III) reagent arene has been examined.

Published
2006

22. Chiral boron-bridged bisoxazoline (borabox) ligands: structures and reactivities of Pd and Cu complexes.

Author

Köhler V, Mazet C, Toussaint A, Kulicke K, Häussinger D, Neuburger M, Schaffner S, Kaiser S, and Pfaltz A

Abstract

Anionic boron-bridged bisoxazolines (borabox ligands) have been synthesized and characterized in their protonated forms. The ligands are tuneable over a wide range, allowing either alkyl or aryl substituents at the oxazoline rings and the central bridging boron atom. The structural parameters of this new ligand type have been investigated by X-ray analyses of palladium and copper complexes. Electronic properties have been studied by (13)C NMR spectroscopy and by DFT calculations on palladium allyl complexes and compared to those of analogous bisoxazoline (box) complexes. Borabox complexes are more electron-rich at the metal center than their neutral box congeners, and as a consequence of the longer bonds between the bridging atom and the oxazoline rings, their bite angles are larger. Palladium(II) complexes bearing an unsubstituted allyl ligand and homoleptic copper(II) complexes each possess an almost flat chelate ring. NMR analysis of a (1,3-diphenylallyl)(borabox)palladium complex showed a 92:8 mixture of (syn,syn) and (anti,syn) allyl isomers, in contrast with a previously reported box analogue that existed exclusively in the (syn,syn) form. Comparison of the corresponding crystal structures revealed that the distance between the bisoxazoline and the allyl ligand in the borabox complex is shorter. In the copper-catalyzed allylic oxidation of cyclohexene and cyclopentene with tert-butyl perbenzoate, borabox ligands gave results similar-and in some cases superior-to those obtained with analogous box ligands.

Published
2008
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