Search Results - "Chantelot, Christine Bellanné"

Congenital neutropenia in the era of genomics: classification, diagnosis, and natural history by Donadieu, Jean, Beaupain, Blandine, Fenneteau, Odile, Bellanné‐Chantelot, Christine

“…Summary This review focuses on the classification, diagnosis and natural history of congenital neutropenia (CN). CN encompasses a number of genetic disorders…”
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Presence of atypical thrombopoietin receptor (MPL) mutations in triple-negative essential thrombocythemia patients by Cabagnols, Xénia, Favale, Fabrizia, Pasquier, Florence, Messaoudi, Kahia, Defour, Jean Philippe, Ianotto, Jean Christophe, Marzac, Christophe, Le Couédic, Jean Pierre, Droin, Nathalie, Chachoua, Ilyas, Favier, Remi, Diop, M'boyba Khadija, Ugo, Valérie, Casadevall, Nicole, Debili, Najet, Raslova, Hana, Bellanné-Chantelot, Christine, Constantinescu, Stefan N., Bluteau, Olivier, Plo, Isabelle, Vainchenker, William

“…Mutations in signaling molecules of the cytokine receptor axis play a central role in myeloproliferative neoplasm (MPN) pathogenesis. Polycythemia vera is…”
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Update on mutations in glucokinase (GCK), which cause maturity-onset diabetes of the young, permanent neonatal diabetes, and hyperinsulinemic hypoglycemia by Osbak, Kara K, Colclough, Kevin, Saint-Martin, Cecile, Beer, Nicola L, Bellanné-Chantelot, Christine, Ellard, Sian, Gloyn, Anna L

“…Glucokinase is a key regulatory enzyme in the pancreatic beta-cell. It plays a crucial role in the regulation of insulin secretion and has been termed the…”
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Fertility and pregnancy outcomes in women with nonclassic 21‐hydroxylase deficiency by Carrière, Camille, Nguyen, Lee S., Courtillot, Carine, Tejedor, Isabelle, Chakhtoura, Zeina, Bellanné‐Chantelot, Christine, Tardy, Véronique, Leban, Monique, Touraine, Philippe, Bachelot, Anne

“…Introduction Overall fertility and pregnancy outcomes in patients with nonclassic congenital adrenal hyperplasia (NCCAH) have been poorly studied. It has been…”
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Post‐COVID‐19 severe neutropenia by Bouslama, Boutheina, Pierret, Clément, Khelfaoui, Fatima, Bellanné‐Chantelot, Christine, Donadieu, Jean, Héritier, Sébastien

“…To the Editor:A 5-month-old Caucasian male child presented with 36 h of persistent fever (temperature 40.2°C). The patient was very irritable, with lip…”
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CXCR4 WHIM syndrome is a cancer predisposition condition for virus‐induced malignancies by Moulin, Clémentine, Beaupain, Blandine, Suarez, Felipe, Bertrand, Yves, Beaussant, Sarah Cohen, Fischer, Alain, Durin, Julie, Ranta, Dana, Espéli, Marion, Bachelerie, Françoise, Bellanné‐Chantelot, Christine, Molina, Thierry, Emile, Jean François, Balabanian, Karl, Deback, Claire, Donadieu, Jean

“…Summary Warts, hypogammaglobulinaemia, infections and myelokathexis syndrome (WHIMS) is a rare combined primary immunodeficiency caused by the gain of function…”
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Update of variants identified in the pancreatic β-cell K ATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes by De Franco, Elisa, Saint-Martin, Cécile, Brusgaard, Klaus, Knight Johnson, Amy E, Aguilar-Bryan, Lydia, Bowman, Pamela, Arnoux, Jean-Baptiste, Larsen, Annette Rønholt, Sanyoura, May, Greeley, Siri Atma W, Calzada-León, Raúl, Harman, Bradley, Houghton, Jayne A L, Nishimura-Meguro, Elisa, Laver, Thomas W, Ellard, Sian, Del Gaudio, Daniela, Christesen, Henrik Thybo, Bellanné-Chantelot, Christine, Flanagan, Sarah E

“…The most common genetic cause of neonatal diabetes and hyperinsulinism is pathogenic variants in ABCC8 and KCNJ11. These genes encode the subunits of the…”
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Update of variants identified in the pancreatic β‐cell KATP channel genes KCNJ11 and ABCC8 in individuals with congenital hyperinsulinism and diabetes by De Franco, Elisa, Saint‐Martin, Cécile, Brusgaard, Klaus, Knight Johnson, Amy E., Aguilar‐Bryan, Lydia, Bowman, Pamela, Arnoux, Jean‐Baptiste, Larsen, Annette Rønholt, May, Sanyoura, Greeley, Siri Atma W., Calzada‐León, Raúl, Harman, Bradley, Houghton, Jayne A. L., Nishimura‐Meguro, Elisa, Laver, Thomas W., Ellard, Sian, Gaudio, Daniela, Christesen, Henrik Thybo, Bellanné‐Chantelot, Christine, Flanagan, Sarah E.

“…The most common genetic cause of neonatal diabetes and hyperinsulinism is pathogenic variants in ABCC8 and KCNJ11. These genes encode the subunits of the…”
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Leukaemic transformation in a 10‐year‐old girl with SRP54 congenital neutropenia by Calvo, Charlotte, Lainey, Elodie, Caye, Aurélie, Cuccuini, Wendy, Fenneteau, Odile, Yakouben, Karima, Bellanné‐Chantelot, Christine, Baruchel, André, Dalle, Jean‐Hugues, Leblanc, Thierry

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Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients by Donadieu, Jean, Lamant, Marie, Fieschi, Claire, de Fontbrune, Flore Sicre, Caye, Aurélie, Ouachee, Marie, Beaupain, Blandine, Bustamante, Jacinta, Poirel, Hélène A, Isidor, Bertrand, Van Den Neste, Eric, Neel, Antoine, Nimubona, Stanislas, Toutain, Fabienne, Barlogis, Vincent, Schleinitz, Nicolas, Leblanc, Thierry, Rohrlich, Pierre, Suarez, Felipe, Ranta, Dana, Chahla, Wadih Abou, Bruno, Bénédicte, Terriou, Louis, Francois, Sylvie, Lioure, Bruno, Ahle, Guido, Bachelerie, Françoise, Preudhomme, Claude, Delabesse, Eric, Cave, Hélène, Bellanné-Chantelot, Christine, Pasquet, Marlène

“…Heterozygous germline mutations strongly predispose to leukemia, immunodeficiency, and/or lymphoedema. We describe a series of 79 patients (53 families)…”
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NF1 Molecular Characterization and Neurofibromatosis Type I Genotype-Phenotype Correlation: The French Experience by Sabbagh, Audrey, Pasmant, Eric, Imbard, Apolline, Luscan, Armelle, Soares, Magali, Blanché, Hélène, Laurendeau, Ingrid, Ferkal, Salah, Vidaud, Michel, Pinson, Stéphane, Bellanné-Chantelot, Christine, Vidaud, Dominique, Parfait, Béatrice, Wolkenstein, Pierre

“…ABSTRACT Neurofibromatosis type 1 (NF1) affects about one in 3,500 people in all ethnic groups. Most NF1 patients have private loss‐of‐function mutations…”
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Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome by Bellanné-Chantelot, Christine, Schmaltz-Panneau, Barbara, Marty, Caroline, Fenneteau, Odile, Callebaut, Isabelle, Clauin, Séverine, Docet, Aurélie, Damaj, Gandhi-Laurent, Leblanc, Thierry, Pellier, Isabelle, Stoven, Cécile, Souquere, Sylvie, Antony-Debré, Iléana, Beaupain, Blandine, Aladjidi, Nathalie, Barlogis, Vincent, Bauduer, Frédéric, Bensaid, Philippe, Boespflug-Tanguy, Odile, Berger, Claire, Bertrand, Yves, Carausu, Liana, Fieschi, Claire, Galambrun, Claire, Schmidt, Aline, Journel, Hubert, Mazingue, Françoise, Nelken, Brigitte, Quah, Thuan Chong, Oksenhendler, Eric, Ouachée, Marie, Pasquet, Marlène, Saada, Véronique, Suarez, Felipe, Pierron, Gérard, Vainchenker, William, Plo, Isabelle, Donadieu, Jean

“…Congenital neutropenias (CNs) are rare heterogeneous genetic disorders, with about 25% of patients without known genetic defects. Using whole-exome sequencing,…”
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Somatic genetic rescue of a germline ribosome assembly defect by Tan, Shengjiang, Kermasson, Laëtitia, Hilcenko, Christine, Kargas, Vasileios, Traynor, David, Boukerrou, Ahmed Z., Escudero-Urquijo, Norberto, Faille, Alexandre, Bertrand, Alexis, Rossmann, Maxim, Goyenechea, Beatriz, Jin, Li, Moreil, Jonathan, Alibeu, Olivier, Beaupain, Blandine, Bôle-Feysot, Christine, Fumagalli, Stefano, Kaltenbach, Sophie, Martignoles, Jean-Alain, Masson, Cécile, Nitschké, Patrick, Parisot, Mélanie, Pouliet, Aurore, Radford-Weiss, Isabelle, Tores, Frédéric, de Villartay, Jean-Pierre, Zarhrate, Mohammed, Koh, Ai Ling, Phua, Kong Boo, Reversade, Bruno, Bond, Peter J., Bellanné-Chantelot, Christine, Callebaut, Isabelle, Delhommeau, François, Donadieu, Jean, Warren, Alan J., Revy, Patrick

“…Indirect somatic genetic rescue (SGR) of a germline mutation is thought to be rare in inherited Mendelian disorders. Here, we establish that acquired mutations…”
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Congenital hyperinsulinism: current trends in diagnosis and therapy by Arnoux, Jean-Baptiste, Verkarre, Virginie, Saint-Martin, Cécile, Montravers, Françoise, Brassier, Anaïs, Valayannopoulos, Vassili, Brunelle, Francis, Fournet, Jean-Christophe, Robert, Jean-Jacques, Aigrain, Yves, Bellanné-Chantelot, Christine, de Lonlay, Pascale

“…Congenital hyperinsulinism (HI) is an inappropriate insulin secretion by the pancreatic β-cells secondary to various genetic disorders. The incidence is…”
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Functional characterization of ABCC8 variants of unknown significance based on bioinformatics predictions, splicing assays, and protein analyses: Benefits for the accurate diagnosis of congenital hyperinsulinism by Saint‐Martin, Cécile, Cauchois‐Le Mière, Marine, Rex, Emily, Soukarieh, Omar, Arnoux, Jean‐Baptiste, Buratti, Julien, Bouvet, Delphine, Frébourg, Thierry, Gaildrat, Pascaline, Shyng, Show‐Ling, Bellanné‐Chantelot, Christine, Martins, Alexandra

“…ABCC8 encodes the SUR1 subunit of the β‐cell ATP‐sensitive potassium channel whose loss of function causes congenital hyperinsulinism (CHI). Molecular…”
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Heterozygous variants of CLPB are a cause of severe congenital neutropenia by Warren, Julia T., Cupo, Ryan R., Wattanasirakul, Peeradol, Spencer, David H., Locke, Adam E., Makaryan, Vahagn, Bolyard, Audrey Anna, Kelley, Merideth L., Kingston, Natalie L., Shorter, James, Bellanné-Chantelot, Christine, Donadieu, Jean, Dale, David C., Link, Daniel C.

“…Severe congenital neutropenia is an inborn disorder of granulopoiesis. Approximately one third of cases do not have a known genetic cause. Exome sequencing of…”
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Neutrophil depletion impairs natural killer cell maturation, function, and homeostasis by Jaeger, Baptiste N, Donadieu, Jean, Cognet, Céline, Bernat, Claire, Ordoñez-Rueda, Diana, Barlogis, Vincent, Mahlaoui, Nizar, Fenis, Aurore, Narni-Mancinelli, Emilie, Beaupain, Blandine, Bellanné-Chantelot, Christine, Bajénoff, Marc, Malissen, Bernard, Malissen, Marie, Vivier, Eric, Ugolini, Sophie

“…Natural killer (NK) cells are bone marrow (BM)-derived granular lymphocytes involved in immune defense against microbial infections and tumors. In an N-ethyl…”
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Next-generation sequencing identifies monogenic diabetes in 16% of patients with late adolescence/adult-onset diabetes selected on a clinical basis: a cross-sectional analysis by Donath, Xavier, Saint-Martin, Cécile, Dubois-Laforgue, Danièle, Rajasingham, Ramanan, Mifsud, François, Ciangura, Cécile, Timsit, José, Bellanné-Chantelot, Christine

“…Monogenic diabetes (MgD) accounts for 1-2% of all diabetes cases. In adults, MgD is difficult to distinguish from common diabetes causes. We assessed the…”
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Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome by Finch, Andrew J, Hilcenko, Christine, Basse, Nicolas, Drynan, Lesley F, Goyenechea, Beatriz, Menne, Tobias F, González Fernández, Africa, Simpson, Paul, D'Santos, Clive S, Arends, Mark J, Donadieu, Jean, Bellanné-Chantelot, Christine, Costanzo, Michael, Boone, Charles, McKenzie, Andrew N, Freund, Stefan M V, Warren, Alan J

“…Removal of the assembly factor eukaryotic initiation factor 6 (eIF6) is critical for late cytoplasmic maturation of 60S ribosomal subunits. In mammalian cells,…”
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Identification of biallelic germline variants of SRP68 in a sporadic case with severe congenital neutropenia by Schmaltz-Panneau, Barbara, Pagnier, Anne, Clauin, Séverine, Buratti, Julien, Marty, Caroline, Fenneteau, Odile, Dieterich, Klaus, Beaupain, Blandine, Donadieu, Jean, Plo, Isabelle, Bellanné-Chantelot, Christine

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