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Mutations in PNPLA6 are linked to photoreceptor degeneration and various forms of childhood blindness.
Kmoch S, Majewski J, Ramamurthy V, Cao S, Fahiminiya S, Ren H, MacDonald IM, Lopez I, Sun V, Keser V, Khan A, Stránecký V, Hartmannová H, Přistoupilová A, Hodaňová K, Piherová L, Kuchař L, Baxová A, Chen R, Barsottini OG, Pyle A, Griffin H, Splitt M, Sallum J, Tolmie JL, Sampson JR, Chinnery P; Care4Rare Canada; Banin E, Sharon D, Dutta S, Grebler R, Helfrich-Foerster C, Pedroso JL, Kretzschmar D, Cayouette M, Koenekoop RK. Kmoch S, et al. Among authors: cayouette m. Nat Commun. 2015 Jan 9;6:5614. doi: 10.1038/ncomms6614. Nat Commun. 2015. PMID: 25574898 Free PMC article.
Development and disease of the photoreceptor cilium.
Ramamurthy V, Cayouette M. Ramamurthy V, et al. Among authors: cayouette m. Clin Genet. 2009 Aug;76(2):137-45. doi: 10.1111/j.1399-0004.2009.01240.x. Clin Genet. 2009. PMID: 19790290 Review.
Mutations in BCOR, a co-repressor of CRX/OTX2, are associated with early-onset retinal degeneration.
Langouët M, Jolicoeur C, Javed A, Mattar P, Gearhart MD, Daiger SP, Bertelsen M, Tranebjærg L, Rendtorff ND, Grønskov K, Jespersgaard C, Chen R, Sun Z, Li H, Alirezaie N, Majewski J, Bardwell VJ, Sui R, Koenekoop RK, Cayouette M. Langouët M, et al. Among authors: cayouette m. Sci Adv. 2022 Sep 9;8(36):eabh2868. doi: 10.1126/sciadv.abh2868. Epub 2022 Sep 7. Sci Adv. 2022. PMID: 36070393 Free PMC article.
Numb positively regulates Hedgehog signaling at the ciliary pocket.
Liu X, Yam PT, Schlienger S, Cai E, Zhang J, Chen WJ, Torres Gutierrez O, Jimenez Amilburu V, Ramamurthy V, Ting AY, Branon TC, Cayouette M, Gen R, Marks T, Kong JH, Charron F, Ge X. Liu X, et al. Among authors: cayouette m. Nat Commun. 2024 Apr 25;15(1):3365. doi: 10.1038/s41467-024-47244-1. Nat Commun. 2024. PMID: 38664376 Free PMC article.
Computational prediction of neural progenitor cell fates.
Cohen AR, Gomes FL, Roysam B, Cayouette M. Cohen AR, et al. Among authors: cayouette m. Nat Methods. 2010 Mar;7(3):213-8. doi: 10.1038/nmeth.1424. Epub 2010 Feb 7. Nat Methods. 2010. PMID: 20139969 Free article.
89 results