Close to unraveling the secrets of congenital dyserythropoietic anemia types I and II

Por Iolascon, Achille, Delaunay, Jean
Publicado em 2009

Unusual low sickle cell hemoglobin level

Por Baklouti, Faouzi, Delaunay, Jean
Publicado em 2013

Prion Infection of Epithelial Rov Cells Is a Polarized Event

Por Paquet, Sophie, Sabuncu, Elifsu, Delaunay, Jean-Louis, Laude, Hubert, Vilette, Didier
Publicado em 2004

Characterization of a rat liver factor that inhibits initiation of protein synthesis in rabbit reticulocyte lysates

Por Delaunay, Jean, Ranu, Rajinder Singh, Levin, Daniel H., Ernst, Vivian, London, Irving M.
Publicado em 1977

A PDZ-Like Motif in the Biliary Transporter ABCB4 Interacts with the Scaffold Protein EBP50 and Regulates ABCB4 Cell Surface Expression

Por Venot, Quitterie, Delaunay, Jean-Louis, Fouassier, Laura, Delautier, Danièle, Falguières, Thomas, Housset, Chantal, Maurice, Michèle, Aït-Slimane, Tounsia
Publicado no PLoS One (2016)

Molecular analysis of 42 patients with congenital dyserythropoietic anemia type II: new mutations in the SEC23B gene and a search for a genotype-phenotype relationship

Por Iolascon, Achille, Russo, Roberta, Esposito, Maria Rosaria, Asci, Roberta, Piscopo, Carmelo, Perrotta, Silverio, Fénéant-Thibault, Madeleine, Garçon, Loïc, Delaunay, Jean
Publicado em 2010

Alterations of red blood cell metabolome in overhydrated hereditary stomatocytosis

Por Darghouth, Dhouha, Koehl, Bérengère, Heilier, Jean François, Madalinski, Geoffrey, Bovee, Petra, Bosman, Giel, Delaunay, Jean, Junot, Christophe, Roméo, Paul-Henri
Publicado em 2011

Mutational spectrum in congenital dyserythropoietic anemia type II: Identification of 19 novel variants in SEC23B gene

Por Russo, Roberta, Esposito, Maria Rosaria, Asci, Roberta, Gambale, Antonella, Perrotta, Silverio, Ramenghi, Ugo, Forni, Gian Luca, Uygun, Vedat, Delaunay, Jean, Iolascon, Achille
Publicado em 2010

Effects of Cellular, Chemical, and Pharmacological Chaperones on the Rescue of a Trafficking-defective Mutant of the ATP-binding Cassette Transporter Proteins ABCB1/ABCB4

Por Gautherot, Julien, Durand-Schneider, Anne-Marie, Delautier, Danièle, Delaunay, Jean-Louis, Rada, Alegna, Gabillet, Julie, Housset, Chantal, Maurice, Michèle, Aït-Slimane, Tounsia
Publicado em 2012

Band 3 Courcouronnes (Ser667Phe): a trafficking mutant differentially rescued by wild-type band 3 and glycophorin A

Por Toye, Ashley M., Williamson, Rosalind C., Khanfar, Moudji, Bader-Meunier, Brigitte, Cynober, Thérèse, Thibault, Madeleine, Tchernia, Gil, Déchaux, Michèle, Delaunay, Jean, Bruce, Lesley J.
Publicado em 2008

Investigating the key membrane protein changes during in vitro erythropoiesis of protein 4.2 (−) cells (mutations Chartres 1 and 2)

Por van den Akker, Emile, Satchwell, Timothy J., Pellegrin, Stephanie, Flatt, Joanna F., Maigre, Michel, Daniels, Geoff, Delaunay, Jean, Bruce, Lesley J., Toye, Ashley M.
Publicado em 2010

Two founder mutations in the SEC23B gene account for the relatively high frequency of CDA II in the Italian population

Por Russo, Roberta, Gambale, Antonella, Esposito, Maria Rosaria, Serra, Maria Luisa, Troiano, Annaelena, De Maggio, Ilaria, Capasso, Mario, Luzzatto, Lucio, Delaunay, Jean, Tamary, Hannah, Iolascon, Achille
Publicado em 2011

4.1R-deficient human red blood cells have altered phosphatidylserine exposure pathways and are deficient in CD44 and CD47 glycoproteins

Por Jeremy, Kris P., Plummer, Zoe E., Head, David J., Madgett, Tracey E., Sanders, Kelly L., Wallington, Amanda, Storry, Jill R., Gilsanz, Florinda, Delaunay, Jean, Avent, Neil D.
Publicado em 2009

Dehydrated Hereditary Stomatocytosislinked to gain-of-function mutations in mechanically activated PIEZO1 ion channels

Por Albuisson, Juliette, Murthy, Swetha E., Bandell, Michael, Coste, Bertrand, Louis-dit-Picard, Hélène, Mathur, Jayanti, Fénéant-Thibault, Madeleine, Tertian, Gérard, de Jaureguiberry, Jean-Pierre, Syfuss, Pierre-Yves, Cahalan, Stuart, Garçon, Loic, Toutain, Fabienne, Rohrlich, Pierre Simon, Delaunay, Jean, Picard, Véronique, Jeunemaitre, Xavier, Patapoutian, Ardem
Publicado em 2013

A Dominant Mutation in the Gene Encoding the Erythroid Transcription Factor KLF1 Causes a Congenital Dyserythropoietic Anemia

Por Arnaud, Lionel, Saison, Carole, Helias, Virginie, Lucien, Nicole, Steschenko, Dominique, Giarratana, Marie-Catherine, Prehu, Claude, Foliguet, Bernard, Montout, Lory, de Brevern, Alexandre G., Francina, Alain, Ripoche, Pierre, Fenneteau, Odile, Da Costa, Lydie, Peyrard, Thierry, Coghlan, Gail, Illum, Niels, Birgens, Henrik, Tamary, Hannah, Iolascon, Achille, Delaunay, Jean, Tchernia, Gil, Cartron, Jean-Pierre
Publicado em 2010

Congenital Dyserythropoietic Anemia Type I Is Caused by Mutations in Codanin-1

Por Dgany, Orly, Avidan, Nili, Delaunay, Jean, Krasnov, Tatyana, Shalmon, Lea, Shalev, Hanna, Eidelitz-Markus, Tal, Kapelushnik, Joseph, Cattan, Daniel, Pariente, Alexandre, Tulliez, Michel, Crétien, Aurore, Schischmanoff, Pierre-Olivier, Iolascon, Achille, Fibach, Eithan, Koren, Ariel, Rössler, Jochen, Le Merrer, Martine, Yaniv, Isaac, Zaizov, Rina, Ben-Asher, Edna, Olender, Tsvyia, Lancet, Doron, Beckmann, Jacques S., Tamary, Hannah
Publicado em 2002