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Page 1
Defects in KCNJ16 Cause a Novel Tubulopathy with Hypokalemia, Salt Wasting, Disturbed Acid-Base Homeostasis, and Sensorineural Deafness.
Schlingmann KP, Renigunta A, Hoorn EJ, Forst AL, Renigunta V, Atanasov V, Mahendran S, Barakat TS, Gillion V, Godefroid N, Brooks AS, Lugtenberg D, Lake J, Debaix H, Rudin C, Knebelmann B, Tellier S, Rousset-Rouvière C, Viering D, de Baaij JHF, Weber S, Palygin O, Staruschenko A, Kleta R, Houillier P, Bockenhauer D, Devuyst O, Vargas-Poussou R, Warth R, Zdebik AA, Konrad M. Schlingmann KP, et al. Among authors: houillier p. J Am Soc Nephrol. 2021 Jun 1;32(6):1498-1512. doi: 10.1681/ASN.2020111587. Epub 2021 Apr 2. J Am Soc Nephrol. 2021. PMID: 33811157 Free PMC article.
Tissue kallikrein-deficient mice display a defect in renal tubular calcium absorption.
Picard N, Van Abel M, Campone C, Seiler M, Bloch-Faure M, Hoenderop JG, Loffing J, Meneton P, Bindels RJ, Paillard M, Alhenc-Gelas F, Houillier P. Picard N, et al. Among authors: houillier p. J Am Soc Nephrol. 2005 Dec;16(12):3602-10. doi: 10.1681/ASN.2004110923. Epub 2005 Oct 26. J Am Soc Nephrol. 2005. PMID: 16251243
Genetic investigation of autosomal recessive distal renal tubular acidosis: evidence for early sensorineural hearing loss associated with mutations in the ATP6V0A4 gene.
Vargas-Poussou R, Houillier P, Le Pottier N, Strompf L, Loirat C, Baudouin V, Macher MA, Déchaux M, Ulinski T, Nobili F, Eckart P, Novo R, Cailliez M, Salomon R, Nivet H, Cochat P, Tack I, Fargeot A, Bouissou F, Kesler GR, Lorotte S, Godefroid N, Layet V, Morin G, Jeunemaître X, Blanchard A. Vargas-Poussou R, et al. Among authors: houillier p. J Am Soc Nephrol. 2006 May;17(5):1437-43. doi: 10.1681/ASN.2005121305. Epub 2006 Apr 12. J Am Soc Nephrol. 2006. PMID: 16611712
Pitfalls of measuring total blood calcium in patients with CKD.
Gauci C, Moranne O, Fouqueray B, de la Faille R, Maruani G, Haymann JP, Jacquot C, Boffa JJ, Flamant M, Rossert J, Urena P, Stengel B, Souberbielle JC, Froissart M, Houillier P; NephroTest Study Group. Gauci C, et al. Among authors: houillier p. J Am Soc Nephrol. 2008 Aug;19(8):1592-8. doi: 10.1681/ASN.2007040449. Epub 2008 Apr 9. J Am Soc Nephrol. 2008. PMID: 18400941 Free PMC article.
Spectrum of mutations in Gitelman syndrome.
Vargas-Poussou R, Dahan K, Kahila D, Venisse A, Riveira-Munoz E, Debaix H, Grisart B, Bridoux F, Unwin R, Moulin B, Haymann JP, Vantyghem MC, Rigothier C, Dussol B, Godin M, Nivet H, Dubourg L, Tack I, Gimenez-Roqueplo AP, Houillier P, Blanchard A, Devuyst O, Jeunemaitre X. Vargas-Poussou R, et al. Among authors: houillier p. J Am Soc Nephrol. 2011 Apr;22(4):693-703. doi: 10.1681/ASN.2010090907. Epub 2011 Mar 17. J Am Soc Nephrol. 2011. PMID: 21415153 Free PMC article.
Renal phenotype in mice lacking the Kir5.1 (Kcnj16) K+ channel subunit contrasts with that observed in SeSAME/EAST syndrome.
Paulais M, Bloch-Faure M, Picard N, Jacques T, Ramakrishnan SK, Keck M, Sohet F, Eladari D, Houillier P, Lourdel S, Teulon J, Tucker SJ. Paulais M, et al. Among authors: houillier p. Proc Natl Acad Sci U S A. 2011 Jun 21;108(25):10361-6. doi: 10.1073/pnas.1101400108. Epub 2011 Jun 1. Proc Natl Acad Sci U S A. 2011. PMID: 21633011 Free PMC article.
Familial hypomagnesemia with hypercalciuria and nephrocalcinosis: phenotype-genotype correlation and outcome in 32 patients with CLDN16 or CLDN19 mutations.
Godron A, Harambat J, Boccio V, Mensire A, May A, Rigothier C, Couzi L, Barrou B, Godin M, Chauveau D, Faguer S, Vallet M, Cochat P, Eckart P, Guest G, Guigonis V, Houillier P, Blanchard A, Jeunemaitre X, Vargas-Poussou R. Godron A, et al. Among authors: houillier p. Clin J Am Soc Nephrol. 2012 May;7(5):801-9. doi: 10.2215/CJN.12841211. Epub 2012 Mar 15. Clin J Am Soc Nephrol. 2012. PMID: 22422540 Free PMC article.
235 results