Bleeding disorders in Lowe syndrome patients: evidence for a link between OCRL mutations and primary haemostasis disorders

Autor: Lasne, Dominique, Baujat, Geneviève, Mirault, Tristan, Lunardi, Joël, Grelac, Françoise, Egot, Marion, Salomon, Rémi, Bachelot-Loza, Christilla

Publikováno v: British Journal of Haematology
British Journal of Haematology, 2010, 150 (6), pp.685-8. ⟨10.1111/j.1365-2141.2010.08304.x⟩
British Journal of Haematology, Wiley, 2010, 150 (6), pp.685-8. 〈10.1111/j.1365-2141.2010.08304.x〉
British Journal of Haematology, Wiley, 2010, 150 (6), pp.685-8. ⟨10.1111/j.1365-2141.2010.08304.x⟩

International audience; Lowe syndrome (LS) is a rare X-linked disorder caused by mutations in the oculocerebrorenal gene (OCRL), encoding OCRL, a phosphatidylinositol 5-phosphatase with a RhoGAP domain. An abnormal rate of haemorrhagic events was fou

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::9a21b0fd6b6d90fe000bbcbe4ccfeb3a
https://www.hal.inserm.fr/inserm-00588304

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Differentiated thick ascending limb (TAL) cultured cells derived from SV40 transgenic mice express functional apical NHE2 isoform: effect of nitric oxide.

Autor: Bourgeois, Soline, Rossignol, Patrick, Grelac, Françoise, Chalumeau, Cécile, Klein, Christophe, Laghmani, Kamel, Chambrey, Régine, Bruneval, Patrick, Duong, Jean-Paul, Poggioli, Josiane, Houillier, Pascal, Paillard, Michel, Kellermann, Odile, Froissart, Marc

Publikováno v: Pflügers Archiv: European Journal of Physiology; Sep2003, Vol. 446 Issue 6, p672-683, 12p

Negative Regulation of Mitogen-activated Protein Kinase Activation by Integrin αIIbβ3in Platelets*

Autor: Nadal, Florence, Lévy-Toledano, Sylviane, Grelac, Françoise, Caen, Jacques P., Rosa, Jean-Philippe, Bryckaert, Marijke

Publikováno v: Journal of Biological Chemistry; September 1997, Vol. 272 Issue: 36 p22381-22384, 4p