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Page 1
Multiplex epithelium dysfunction due to CLDN10 mutation: the HELIX syndrome.
Hadj-Rabia S, Brideau G, Al-Sarraj Y, Maroun RC, Figueres ML, Leclerc-Mercier S, Olinger E, Baron S, Chaussain C, Nochy D, Taha RZ, Knebelmann B, Joshi V, Curmi PA, Kambouris M, Vargas-Poussou R, Bodemer C, Devuyst O, Houillier P, El-Shanti H. Hadj-Rabia S, et al. Among authors: figueres ml. Genet Med. 2018 Feb;20(2):190-201. doi: 10.1038/gim.2017.71. Epub 2017 Aug 3. Genet Med. 2018. PMID: 28771254 Free article.
Claudin-16 Deficiency Impairs Tight Junction Function in Ameloblasts, Leading to Abnormal Enamel Formation.
Bardet C, Courson F, Wu Y, Khaddam M, Salmon B, Ribes S, Thumfart J, Yamaguti PM, Rochefort GY, Figueres ML, Breiderhoff T, Garcia-Castaño A, Vallée B, Le Denmat D, Baroukh B, Guilbert T, Schmitt A, Massé JM, Bazin D, Lorenz G, Morawietz M, Hou J, Carvalho-Lobato P, Manzanares MC, Fricain JC, Talmud D, Demontis R, Neves F, Zenaty D, Berdal A, Kiesow A, Petzold M, Menashi S, Linglart A, Acevedo AC, Vargas-Poussou R, Müller D, Houillier P, Chaussain C. Bardet C, et al. Among authors: figueres ml. J Bone Miner Res. 2016 Mar;31(3):498-513. doi: 10.1002/jbmr.2726. Epub 2015 Oct 20. J Bone Miner Res. 2016. PMID: 26426912 Free article.
Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations.
Yamaguti PM, Neves FA, Hotton D, Bardet C, de La Dure-Molla M, Castro LC, Scher MD, Barbosa ME, Ditsch C, Fricain JC, de La Faille R, Figueres ML, Vargas-Poussou R, Houillier P, Chaussain C, Babajko S, Berdal A, Acevedo AC. Yamaguti PM, et al. Among authors: figueres ml. J Med Genet. 2017 Jan;54(1):26-37. doi: 10.1136/jmedgenet-2016-103956. Epub 2016 Aug 16. J Med Genet. 2017. PMID: 27530400
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations.
Jaureguiberry G, De la Dure-Molla M, Parry D, Quentric M, Himmerkus N, Koike T, Poulter J, Klootwijk E, Robinette SL, Howie AJ, Patel V, Figueres ML, Stanescu HC, Issler N, Nicholson JK, Bockenhauer D, Laing C, Walsh SB, McCredie DA, Povey S, Asselin A, Picard A, Coulomb A, Medlar AJ, Bailleul-Forestier I, Verloes A, Le Caignec C, Roussey G, Guiol J, Isidor B, Logan C, Shore R, Johnson C, Inglehearn C, Al-Bahlani S, Schmittbuhl M, Clauss F, Huckert M, Laugel V, Ginglinger E, Pajarola S, Spartà G, Bartholdi D, Rauch A, Addor MC, Yamaguti PM, Safatle HP, Acevedo AC, Martelli-Júnior H, dos Santos Netos PE, Coletta RD, Gruessel S, Sandmann C, Ruehmann D, Langman CB, Scheinman SJ, Ozdemir-Ozenen D, Hart TC, Hart PS, Neugebauer U, Schlatter E, Houillier P, Gahl WA, Vikkula M, Bloch-Zupan A, Bleich M, Kitagawa H, Unwin RJ, Mighell A, Berdal A, Kleta R. Jaureguiberry G, et al. Among authors: figueres ml. Nephron Physiol. 2012;122(1-2):1-6. doi: 10.1159/000349989. Epub 2013 Feb 23. Nephron Physiol. 2012. PMID: 23434854 Free PMC article.
Characterization of Renal Injury and Inflammation in an Experimental Model of Intravascular Hemolysis.
Merle NS, Grunenwald A, Figueres ML, Chauvet S, Daugan M, Knockaert S, Robe-Rybkine T, Noe R, May O, Frimat M, Brinkman N, Gentinetta T, Miescher S, Houillier P, Legros V, Gonnet F, Blanc-Brude OP, Rabant M, Daniel R, Dimitrov JD, Roumenina LT. Merle NS, et al. Among authors: figueres ml. Front Immunol. 2018 Mar 1;9:179. doi: 10.3389/fimmu.2018.00179. eCollection 2018. Front Immunol. 2018. PMID: 29545789 Free PMC article.
Intravascular hemolysis activates complement via cell-free heme and heme-loaded microvesicles.
Merle NS, Grunenwald A, Rajaratnam H, Gnemmi V, Frimat M, Figueres ML, Knockaert S, Bouzekri S, Charue D, Noe R, Robe-Rybkine T, Le-Hoang M, Brinkman N, Gentinetta T, Edler M, Petrillo S, Tolosano E, Miescher S, Le Jeune S, Houillier P, Chauvet S, Rabant M, Dimitrov JD, Fremeaux-Bacchi V, Blanc-Brude OP, Roumenina LT. Merle NS, et al. Among authors: figueres ml. JCI Insight. 2018 Jun 21;3(12):e96910. doi: 10.1172/jci.insight.96910. eCollection 2018 Jun 21. JCI Insight. 2018. PMID: 29925688 Free PMC article.
12 results