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Rare variants in ANO1, encoding a calcium-activated chloride channel, predispose to moyamoya disease.
Pinard A, Ye W, Fraser SM, Rosenfeld JA, Pichurin P, Hickey SE, Guo D, Cecchi AC, Boerio ML, Guey S, Aloui C, Lee K, Kraemer M, Alyemni SO; University of Washington Center for Mendelian Genomics; Bamshad MJ, Nickerson DA, Tournier-Lasserve E, Haider S, Jin SC, Smith ER, Kahle KT, Jan LY, He M, Milewicz DM. Pinard A, et al. Among authors: he m. Brain. 2023 Sep 1;146(9):3616-3623. doi: 10.1093/brain/awad172. Brain. 2023. PMID: 37253099 Free PMC article.
Ageing hallmarks exhibit organ-specific temporal signatures.
Schaum N, Lehallier B, Hahn O, Pálovics R, Hosseinzadeh S, Lee SE, Sit R, Lee DP, Losada PM, Zardeneta ME, Fehlmann T, Webber JT, McGeever A, Calcuttawala K, Zhang H, Berdnik D, Mathur V, Tan W, Zee A, Tan M; Tabula Muris Consortium; Pisco AO, Karkanias J, Neff NF, Keller A, Darmanis S, Quake SR, Wyss-Coray T. Schaum N, et al. Nature. 2020 Jul;583(7817):596-602. doi: 10.1038/s41586-020-2499-y. Epub 2020 Jul 15. Nature. 2020. PMID: 32669715 Free PMC article.
Effect of intraocular pressure reduction on progressive high myopia (PHM study): study protocol of a randomised controlled trial.
Jiang J, Lin T, Lin F, Kong K, Wang P, Song Y, Zhou F, Wang Z, Jin L, Liu Y, Gao X, Chen J, Chen M, Lam DSC, Jonas JB, Chen S, Zhang X; Glaucoma Suspects with High Myopia Study Group. Jiang J, et al. BMJ Open. 2024 Jun 5;14(6):e084068. doi: 10.1136/bmjopen-2024-084068. BMJ Open. 2024. PMID: 38839388 Free article. Clinical Trial.
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