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Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.
Gribouval O, Morinière V, Pawtowski A, Arrondel C, Sallinen SL, Saloranta C, Clericuzio C, Viot G, Tantau J, Blesson S, Cloarec S, Machet MC, Chitayat D, Thauvin C, Laurent N, Sampson JR, Bernstein JA, Clemenson A, Prieur F, Daniel L, Levy-Mozziconacci A, Lachlan K, Alessandri JL, Cartault F, Rivière JP, Picard N, Baumann C, Delezoide AL, Belar Ortega M, Chassaing N, Labrune P, Yu S, Firth H, Wellesley D, Bitzan M, Alfares A, Braverman N, Krogh L, Tolmie J, Gaspar H, Doray B, Majore S, Bonneau D, Triau S, Loirat C, David A, Bartholdi D, Peleg A, Brackman D, Stone R, DeBerardinis R, Corvol P, Michaud A, Antignac C, Gubler MC. Gribouval O, et al. Among authors: corvol p. Hum Mutat. 2012 Feb;33(2):316-26. doi: 10.1002/humu.21661. Epub 2011 Dec 22. Hum Mutat. 2012. PMID: 22095942 Review.
Can we live without a functional renin-angiotensin system?
Corvol P, Michaud A, Gribouval O, Gasc JM, Gubler MC. Corvol P, et al. Clin Exp Pharmacol Physiol. 2008 Apr;35(4):431-3. doi: 10.1111/j.1440-1681.2008.04891.x. Clin Exp Pharmacol Physiol. 2008. PMID: 18307735
Absence of cell surface expression of human ACE leads to perinatal death.
Michaud A, Acharya KR, Masuyer G, Quenech'du N, Gribouval O, Morinière V, Gubler MC, Corvol P. Michaud A, et al. Among authors: corvol p. Hum Mol Genet. 2014 Mar 15;23(6):1479-91. doi: 10.1093/hmg/ddt535. Epub 2013 Oct 24. Hum Mol Genet. 2014. PMID: 24163131 Free PMC article.
Renal tubular dysgenesis, a not uncommon autosomal recessive disorder leading to oligohydramnios: Role of the Renin-Angiotensin system.
Lacoste M, Cai Y, Guicharnaud L, Mounier F, Dumez Y, Bouvier R, Dijoud F, Gonzales M, Chatten J, Delezoide AL, Daniel L, Joubert M, Laurent N, Aziza J, Sellami T, Amar HB, Jarnet C, Frances AM, Daïkha-Dahmane F, Coulomb A, Neuhaus TJ, Foliguet B, Chenal P, Marcorelles P, Gasc JM, Corvol P, Gubler MC. Lacoste M, et al. Among authors: corvol p. J Am Soc Nephrol. 2006 Aug;17(8):2253-63. doi: 10.1681/ASN.2005121303. Epub 2006 Jun 21. J Am Soc Nephrol. 2006. PMID: 16790508
746 results