Zobrazeno 1 - 10
of 190
pro vyhledávání: '"Jean Delaunay"'
Autor:
Faouzi Baklouti, Jean Delaunay
Publikováno v:
Haematologica, Vol 98, Iss 6 (2013)
Externí odkaz:
https://doaj.org/article/5de1b675a5634776ae66fda9e72bee24
Autor:
Dhouha Darghouth, Bérengère Koehl, Jean François Heilier, Geoffrey Madalinski, Petra Bovee, Giel Bosman, Jean Delaunay, Christophe Junot, Paul-Henri Roméo
Publikováno v:
Haematologica, Vol 96, Iss 12 (2011)
Overhydrated hereditary stomatocytosis, clinically characterized by hemolytic anemia, is a rare disorder of the erythrocyte membrane permeability to monovalent cations, associated with mutations in the Rh-associated glycoprotein gene. We assessed the
Externí odkaz:
https://doaj.org/article/ea7857c706ad415d9d266b855d846ff7
Autor:
Emile van den Akker, Timothy J. Satchwell, Stephanie Pellegrin, Joanna F. Flatt, Michel Maigre, Geoff Daniels, Jean Delaunay, Lesley J. Bruce, Ashley M. Toye
Publikováno v:
Haematologica, Vol 95, Iss 8 (2010)
Background Protein 4.2 deficiency caused by mutations in the EPB42 gene results in hereditary spherocytosis with characteristic alterations of CD47, CD44 and RhAG. We decided to investigate at which stage of erythropoiesis these hallmarks of protein
Externí odkaz:
https://doaj.org/article/e6cb6d91cc184560878bfad16c55d634
Autor:
Achille Iolascon, Roberta Russo, Maria Rosaria Esposito, Roberta Asci, Carmelo Piscopo, Silverio Perrotta, Madeleine Fénéant-Thibault, Loïc Garçon, Jean Delaunay
Publikováno v:
Haematologica, Vol 95, Iss 5 (2010)
Background The most frequent form of congenital dyserythropoietic anemia is the type II form. Recently it was shown that the vast majority of patients with congenital dyserythropoietic anemia type II carry mutations in the SEC23B gene. Here we establ
Externí odkaz:
https://doaj.org/article/6e7f62f5ed524ac38946ca07a1192494
Autor:
Kris P. Jeremy, Zoe E. Plummer, David J. Head, Tracey E. Madgett, Kelly L. Sanders, Amanda Wallington, Jill R. Storry, Florinda Gilsanz, Jean Delaunay, Neil D. Avent
Publikováno v:
Haematologica, Vol 94, Iss 10 (2009)
Background Protein 4.1R is an important component of the red cell membrane skeleton. It imparts structural integrity and has transmembrane signaling roles by direct interactions with transmembrane proteins and other membrane skeletal components, nota
Externí odkaz:
https://doaj.org/article/a5ff8d4ae988490e99660bfa5fc0fced
Autor:
Achille Iolascon, Jean Delaunay
Publikováno v:
Haematologica, Vol 94, Iss 5 (2009)
Externí odkaz:
https://doaj.org/article/693042dd55f247fd8a986c8d22bfcf24
Autor:
Aurore Crétien, Corinne Hurtaud, Hélène Moniz, Alexis Proust, Isabelle Marie, Orianne Wagner-Ballon, Valérie Choesmel, Pierre-Emmanuel Gleizes, Thierry Leblanc, Jean Delaunay, Gil Tchernia, Narla Mohandas, Lydie Da Costa
Publikováno v:
Haematologica, Vol 93, Iss 11 (2008)
Background Mutations in the ribosomal protein S19 gene (RPS19) have been found in 25% of patients with Diamond-Blackfan anemia, a rare syndrome of congenital bone marrow failure characterized by erythroblastopenia and various malformations. Mechanist
Externí odkaz:
https://doaj.org/article/0d490a285bd14b3ca396b7c208f6521b
Autor:
Christophe Corpechot, Minh Tuan Huynh, Cong Toai Tran, Véronique Barbu, Laure Muller, Jean Delaunay
Publikováno v:
Revista Española de Enfermedades Digestivas. 111
Low phospholipid-associated cholelithiasis and intrahepatic cholestasis of pregnancy are two MDR3-related inherited liver disorders caused by biallelic or monoallelic ABCB4 loss-of-function variants. Low phospholipid-associated cholelithiasis is clin
Autor:
Maria D'Armiento, Lucia De Franceschi, Seth L. Alper, Boris E. Shmukler, Stanley L. Schrier, David H. Vandorpe, Annalisa Vetro, Maria Rosaria Esposito, Bertil Glader, Achille Iolascon, Orsetta Zuffardi, Jean Delaunay, Donatella Montanaro, Carla Auriemma, Gordon W. Stewart, Immacolata Andolfo, Ivan Limongelli, Roberta Russo, Carlo Brugnara, Luigia De Falco, Rupa Narayan, Fara Vallefuoco
Publikováno v:
Blood. 121:3925-3935
Autosomal dominant dehydrated hereditary stomatocytosis (DHSt) usually presents as a compensated hemolytic anemia with macrocytosis and abnormally shaped red blood cells (RBCs). DHSt is part of a pleiotropic syndrome that may also exhibit pseudohyper
Autor:
Isabelle Mouro-Chanteloup, Yves Colin, Pierre Ripoche, Sandrine Genetet, Corinne Armari-Alla, Julien Picot, Jean Delaunay, Sylvain Bigot
Publikováno v:
American Journal of Physiology-Cell Physiology. 302:C419-C428
In red cells, Rh-associated glycoprotein (RhAG) acts as an ammonia channel, as demonstrated by stopped-flow analysis of ghost intracellular pH (pHi) changes. Recently, overhydrated hereditary stomatocytosis (OHSt), a rare dominantly inherited hemolyt