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Page 1
KLHL3 mutations cause familial hyperkalemic hypertension by impairing ion transport in the distal nephron.
Louis-Dit-Picard H, Barc J, Trujillano D, Miserey-Lenkei S, Bouatia-Naji N, Pylypenko O, Beaurain G, Bonnefond A, Sand O, Simian C, Vidal-Petiot E, Soukaseum C, Mandet C, Broux F, Chabre O, Delahousse M, Esnault V, Fiquet B, Houillier P, Bagnis CI, Koenig J, Konrad M, Landais P, Mourani C, Niaudet P, Probst V, Thauvin C, Unwin RJ, Soroka SD, Ehret G, Ossowski S, Caulfield M; International Consortium for Blood Pressure (ICBP); Bruneval P, Estivill X, Froguel P, Hadchouel J, Schott JJ, Jeunemaitre X. Louis-Dit-Picard H, et al. Among authors: jeunemaitre x. Nat Genet. 2012 Mar 11;44(4):456-60, S1-3. doi: 10.1038/ng.2218. Nat Genet. 2012. PMID: 22406640
Regulation of ion transport by microRNAs.
Elvira-Matelot E, Jeunemaitre X, Hadchouel J. Elvira-Matelot E, et al. Among authors: jeunemaitre x. Curr Opin Nephrol Hypertens. 2011 Sep;20(5):541-6. doi: 10.1097/MNH.0b013e328348b4aa. Curr Opin Nephrol Hypertens. 2011. PMID: 21670673 Review.
Pathogenesis of pseudohypoaldosteronism type 2 by WNK1 mutations.
Bergaya S, Vidal-Petiot E, Jeunemaitre X, Hadchouel J. Bergaya S, et al. Among authors: jeunemaitre x. Curr Opin Nephrol Hypertens. 2012 Jan;21(1):39-45. doi: 10.1097/MNH.0b013e32834d2fde. Curr Opin Nephrol Hypertens. 2012. PMID: 22080857 Review.
[KLHL3 and CULLIN-3: new genes involved in familial hypertension].
Louis-Dit-Picard H, Hadchouel J, Jeunemaitre X. Louis-Dit-Picard H, et al. Among authors: jeunemaitre x. Med Sci (Paris). 2012 Aug-Sep;28(8-9):703-6. doi: 10.1051/medsci/2012288010. Epub 2012 Aug 22. Med Sci (Paris). 2012. PMID: 22920870 Free article. French. No abstract available.
WNK1-related Familial Hyperkalemic Hypertension results from an increased expression of L-WNK1 specifically in the distal nephron.
Vidal-Petiot E, Elvira-Matelot E, Mutig K, Soukaseum C, Baudrie V, Wu S, Cheval L, Huc E, Cambillau M, Bachmann S, Doucet A, Jeunemaitre X, Hadchouel J. Vidal-Petiot E, et al. Among authors: jeunemaitre x. Proc Natl Acad Sci U S A. 2013 Aug 27;110(35):14366-71. doi: 10.1073/pnas.1304230110. Epub 2013 Aug 12. Proc Natl Acad Sci U S A. 2013. PMID: 23940364 Free PMC article.
Decreased ENaC expression compensates the increased NCC activity following inactivation of the kidney-specific isoform of WNK1 and prevents hypertension.
Hadchouel J, Soukaseum C, Büsst C, Zhou XO, Baudrie V, Zürrer T, Cambillau M, Elghozi JL, Lifton RP, Loffing J, Jeunemaitre X. Hadchouel J, et al. Among authors: jeunemaitre x. Proc Natl Acad Sci U S A. 2010 Oct 19;107(42):18109-14. doi: 10.1073/pnas.1006128107. Epub 2010 Oct 4. Proc Natl Acad Sci U S A. 2010. PMID: 20921400 Free PMC article.
Dehydrated hereditary stomatocytosis linked to gain-of-function mutations in mechanically activated PIEZO1 ion channels.
Albuisson J, Murthy SE, Bandell M, Coste B, Louis-Dit-Picard H, Mathur J, Fénéant-Thibault M, Tertian G, de Jaureguiberry JP, Syfuss PY, Cahalan S, Garçon L, Toutain F, Simon Rohrlich P, Delaunay J, Picard V, Jeunemaitre X, Patapoutian A. Albuisson J, et al. Among authors: jeunemaitre x. Nat Commun. 2013;4:1884. doi: 10.1038/ncomms2899. Nat Commun. 2013. PMID: 23695678 Free PMC article.
Mutations in DCHS1 cause mitral valve prolapse.
Durst R, Sauls K, Peal DS, deVlaming A, Toomer K, Leyne M, Salani M, Talkowski ME, Brand H, Perrocheau M, Simpson C, Jett C, Stone MR, Charles F, Chiang C, Lynch SN, Bouatia-Naji N, Delling FN, Freed LA, Tribouilloy C, Le Tourneau T, LeMarec H, Fernandez-Friera L, Solis J, Trujillano D, Ossowski S, Estivill X, Dina C, Bruneval P, Chester A, Schott JJ, Irvine KD, Mao Y, Wessels A, Motiwala T, Puceat M, Tsukasaki Y, Menick DR, Kasiganesan H, Nie X, Broome AM, Williams K, Johnson A, Markwald RR, Jeunemaitre X, Hagege A, Levine RA, Milan DJ, Norris RA, Slaugenhaupt SA. Durst R, et al. Among authors: jeunemaitre x. Nature. 2015 Sep 3;525(7567):109-13. doi: 10.1038/nature14670. Epub 2015 Aug 10. Nature. 2015. PMID: 26258302 Free PMC article.
WNK-SPAK-NCC cascade revisited: WNK1 stimulates the activity of the Na-Cl cotransporter via SPAK, an effect antagonized by WNK4.
Chávez-Canales M, Zhang C, Soukaseum C, Moreno E, Pacheco-Alvarez D, Vidal-Petiot E, Castañeda-Bueno M, Vázquez N, Rojas-Vega L, Meermeier NP, Rogers S, Jeunemaitre X, Yang CL, Ellison DH, Gamba G, Hadchouel J. Chávez-Canales M, et al. Among authors: jeunemaitre x. Hypertension. 2014 Nov;64(5):1047-53. doi: 10.1161/HYPERTENSIONAHA.114.04036. Epub 2014 Aug 11. Hypertension. 2014. PMID: 25113964 Free PMC article.
379 results