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Rare loss-of-function mutations of PTGIR are enriched in fibromuscular dysplasia.
Georges A, Albuisson J, Berrandou T, Dupré D, Lorthioir A, D'Escamard V, Di Narzo AF, Kadian-Dodov D, Olin JW, Warchol-Celinska E, Prejbisz A, Januszewicz A, Bruneval P, Baranowska AA, Webb TR, Hamby SE, Samani NJ, Adlam D, Fendrikova-Mahlay N, Hazen S, Wang Y, Yang ML, Hunker K, Combaret N, Motreff P, Chédid A, Fiquet B, Plouin PF, Mousseaux E, Azarine A, Amar L, Azizi M, Gornik HL, Ganesh SK, Kovacic JC, Jeunemaitre X, Bouatia-Naji N. Georges A, et al. Among authors: fiquet b. Cardiovasc Res. 2021 Mar 21;117(4):1154-1165. doi: 10.1093/cvr/cvaa161. Cardiovasc Res. 2021. PMID: 32531060 Free PMC article.
[Fibromuscular dysplasia of renal arteries].
Plouin PF, Fiquet B, Bobrie G, Jeunemaître X. Plouin PF, et al. Among authors: fiquet b. Nephrol Ther. 2016 Apr;12 Suppl 1:S135-8. doi: 10.1016/j.nephro.2016.02.011. Epub 2016 Mar 8. Nephrol Ther. 2016. PMID: 26968476 French.
Male Sex Is Associated With Cervical Artery Dissection in Patients With Fibromuscular Dysplasia.
Arnaud C, Boulanger M, Lorthioir A, Amar L, Azarine A, Boyer L, Chatellier G, Di Monaco S, Jeunemaitre X, Kastler A, Mousseaux E, Oppenheim C, Thony F, Persu A, Olin JW, Azizi M, Touzé E; ARCADIA Co‐investigators †. Arnaud C, et al. J Am Heart Assoc. 2021 Jun;10(11):e018311. doi: 10.1161/JAHA.120.018311. Epub 2021 May 17. J Am Heart Assoc. 2021. PMID: 33998257 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. Among authors: fiquet b. Nat Genet. 2012 Mar 11;44(4):456-60, S1-3. doi: 10.1038/ng.2218. Nat Genet. 2012. PMID: 22406640
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