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The genetic landscape and clinical spectrum of nephronophthisis and related ciliopathies.
Petzold F, Billot K, Chen X, Henry C, Filhol E, Martin Y, Avramescu M, Douillet M, Morinière V, Krug P, Jeanpierre C, Tory K, Boyer O, Burgun A, Servais A, Salomon R, Benmerah A, Heidet L, Garcelon N, Antignac C, Zaidan M, Saunier S; INSERM–Necker Hospital NPH collaborative group. Petzold F, et al. Among authors: benmerah a. Kidney Int. 2023 Aug;104(2):378-387. doi: 10.1016/j.kint.2023.05.007. Epub 2023 May 23. Kidney Int. 2023. PMID: 37230223 Free article.
Fluid shear stress triggers cholesterol biosynthesis and uptake in inner medullary collecting duct cells, independently of nephrocystin-1 and nephrocystin-4.
Garfa Traoré M, Roccio F, Miceli C, Ferri G, Parisot M, Cagnard N, Lhomme M, Dupont N, Benmerah A, Saunier S, Delous M. Garfa Traoré M, et al. Among authors: benmerah a. Front Mol Biosci. 2023 Oct 17;10:1254691. doi: 10.3389/fmolb.2023.1254691. eCollection 2023. Front Mol Biosci. 2023. PMID: 37916190 Free PMC article.
Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia.
Reilly ML, Ain NU, Muurinen M, Tata A, Huber C, Simon M, Ishaq T, Shaw N, Rusanen S, Pekkinen M, Högler W, Knapen MFCM, van den Born M, Saunier S, Naz S, Cormier-Daire V, Benmerah A, Makitie O. Reilly ML, et al. Among authors: benmerah a. J Bone Miner Res. 2022 Sep;37(9):1642-1652. doi: 10.1002/jbmr.4639. Epub 2022 Jul 19. J Bone Miner Res. 2022. PMID: 35748595 Free PMC article.
Agonists of prostaglandin E2 receptors as potential first in class treatment for nephronophthisis and related ciliopathies.
Garcia H, Serafin AS, Silbermann F, Porée E, Viau A, Mahaut C, Billot K, Birgy É, Garfa-Traore M, Roy S, Ceccarelli S, Mehraz M, Rodriguez PC, Deleglise B, Furio L, Jabot-Hanin F, Cagnard N, Del Nery E, Fila M, Sin-Monnot S, Antignac C, Lyonnet S, Krug P, Salomon R, Annereau JP, Benmerah A, Delous M, Briseño-Roa L, Saunier S. Garcia H, et al. Among authors: benmerah a. Proc Natl Acad Sci U S A. 2022 May 3;119(18):e2115960119. doi: 10.1073/pnas.2115960119. Epub 2022 Apr 28. Proc Natl Acad Sci U S A. 2022. PMID: 35482924 Free PMC article.
EFA6A, an exchange factor for Arf6, regulates early steps in ciliogenesis.
Partisani M, Baron CL, Ghossoub R, Fayad R, Pagnotta S, Abélanet S, Macia E, Brau F, Lacas-Gervais S, Benmerah A, Luton F, Franco M. Partisani M, et al. Among authors: benmerah a. J Cell Sci. 2021 Jan 22;134(2):jcs249565. doi: 10.1242/jcs.249565. J Cell Sci. 2021. PMID: 33483367
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