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Page 1
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: louis dit picard h. Nat Commun. 2013;4:1884. doi: 10.1038/ncomms2899. Nat Commun. 2013. PMID: 23695678 Free PMC article.
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. Nat Genet. 2012 Mar 11;44(4):456-60, S1-3. doi: 10.1038/ng.2218. Nat Genet. 2012. PMID: 22406640
[KLHL3 and CULLIN-3: new genes involved in familial hypertension].
Louis-Dit-Picard H, Hadchouel J, Jeunemaitre X. Louis-Dit-Picard H, et al. 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.
Mutation affecting the conserved acidic WNK1 motif causes inherited hyperkalemic hyperchloremic acidosis.
Louis-Dit-Picard H, Kouranti I, Rafael C, Loisel-Ferreira I, Chavez-Canales M, Abdel-Khalek W, Argaiz ER, Baron S, Vacle S, Migeon T, Coleman R, Do Cruzeiro M, Hureaux M, Thurairajasingam N, Decramer S, Girerd X, O'Shaugnessy K, Mulatero P, Roussey G, Tack I, Unwin R, Vargas-Poussou R, Staub O, Grimm R, Welling PA, Gamba G, Clauser E, Hadchouel J, Jeunemaitre X. Louis-Dit-Picard H, et al. J Clin Invest. 2020 Dec 1;130(12):6379-6394. doi: 10.1172/JCI94171. J Clin Invest. 2020. PMID: 32790646 Free PMC article.
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
Malan V, Rajan D, Thomas S, Shaw AC, Louis Dit Picard H, Layet V, Till M, van Haeringen A, Mortier G, Nampoothiri S, Puseljić S, Legeai-Mallet L, Carter NP, Vekemans M, Munnich A, Hennekam RC, Colleaux L, Cormier-Daire V. Malan V, et al. Among authors: louis dit picard h. Am J Hum Genet. 2010 Aug 13;87(2):189-98. doi: 10.1016/j.ajhg.2010.07.001. Epub 2010 Jul 30. Am J Hum Genet. 2010. PMID: 20673863 Free PMC article.
Investigating iRHOM2-Associated Transcriptional Changes in Tylosis With Esophageal Cancer.
Murtough S, Babu D, Webb CM, Louis Dit Picard H, McGinty LA, Chao-Chu J, Pink R, Silver AR, Smart HL, Field JK, Woodland P, Risk JM, Blaydon DC, Pennington DJ, Kelsell DP. Murtough S, et al. Among authors: louis dit picard h. Gastro Hep Adv. 2023 Dec 26;3(3):385-395. doi: 10.1016/j.gastha.2023.12.007. eCollection 2024. Gastro Hep Adv. 2023. PMID: 39131151 Free PMC article.