Disruption of SMIM1 causes the Vel− blood type

Autor: Bryan A. Ballif, Virginie Helias, Thierry Peyrard, Cécile Menanteau, Carole Saison, Nicole Lucien, Sébastien Bourgouin, Maude Le Gall, Jean‐Pierre Cartron, Lionel Arnaud

Publikováno v: EMBO Molecular Medicine, Vol 5, Iss 5, Pp 751-761 (2013)

Abstract Here, we report the biochemical and genetic basis of the Vel blood group antigen, which has been a vexing mystery for decades, especially as anti‐Vel regularly causes severe haemolytic transfusion reactions. The protein carrying the Vel bl

Externí odkaz: https://doaj.org/article/8b9d47796748457db93dc5efed533970

Identification and characterization of a novelXKsplice site mutation in a patient with McLeod syndrome

Autor: Jean-Pierre Cartron, Pierre-Yves Le Pennec, François Salachas, Thierry Maisonobe, Nicole Lucien, Lionel Arnaud, Jérôme Babinet

Publikováno v: Transfusion. 49:479-484

BACKGROUND: McLeod syndrome is a rare X-linked neuroacanthocytosis syndrome with hematologic, muscular, and neurologic manifestations. McLeod syndrome is caused by mutations in the XK gene whose product is expressed at the red blood cell (RBC) surfac

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::aa2ff807b73346f5e7ef807f65ab0350
https://doi.org/10.1111/j.1537-2995.2008.02003.x

Erythroid Expression and Oligomeric State of the AQP3 Protein

Autor: Pierre Gane, Nicole Lucien, Renée Gobin, Pierre Ripoche, Jean-Pierre Cartron, Nathalie Roudier, Pascal Bailly

Publikováno v: Journal of Biological Chemistry. 277:7664-7669

Biochemical and biophysical studies have shown that the strictly water-permeable aquaporins have a tetrameric structure, whereas results concerning the oligomeric state of GlpF, the glycerol facilitator of Escherichia coli, are dependent upon the ana

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0b9409f38fc629b1be7596b63de7f0cd
https://doi.org/10.1074/jbc.m105411200

Characterization of the Gene Encoding the Human Kidd Blood Group/Urea Transporter Protein

Autor: Frederic Sidoux-Walter, Joann M. Moulds, Jean-Pierre Cartron, Nicole Lucien, Pierre-Yves Le Pennec, Pascal Bailly, Bernadette Olivès

Publikováno v: Journal of Biological Chemistry. 273:12973-12980

The Kidd (JK) blood group is carried by an integral membrane glycoprotein which transports urea through the red cell membrane and is also present on endothelial cells of the vasa recta in the kidney. The exon-intron structure of the human blood group

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::359616c1ac506e64e4e64dddd311a274
https://doi.org/10.1074/jbc.273.21.12973

A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia

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

Publikováno v: American Journal of Human Genetics
American Journal of Human Genetics, 2010, 87 (5), pp.721-7. ⟨10.1016/j.ajhg.2010.10.010⟩
American Journal of Human Genetics, Elsevier (Cell Press), 2010, 87 (5), pp.721-7. ⟨10.1016/j.ajhg.2010.10.010⟩
Arnaud, L, Saison, C, Helias, V, Lucien, N, Steschenko, D, Giarratana, M-C, Prehu, C, Foliguet, B, Montout, L, de Brevern, A G, Francina, A, Ripoche, P, Fenneteau, O, Da Costa, L, Peyrard, T, Coghlan, G, Illum, N, Birgens, H, Tamary, H, Iolascon, A, Delaunay, J, Tchernia, G & Cartron, J-P 2010, ' A dominant mutation in the gene encoding the erythroid transcription factor KLF1 causes a congenital dyserythropoietic anemia ', American Journal of Human Genetics, vol. 87, no. 5, pp. 721-7 . https://doi.org/10.1016/j.ajhg.2010.10.010

International audience; The congenital dyserythropoietic anemias (CDAs) are inherited red blood cell disorders whose hallmarks are ineffective erythropoiesis, hemolysis, and morphological abnormalities of erythroblasts in bone marrow. We have identif

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0edc15352e3059f6bc1860cfcb3889ff
https://www.hal.inserm.fr/inserm-00550723/document