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CNGB3 Missense Variant Causes Recessive Achromatopsia in Original Braunvieh Cattle.
Häfliger IM, Marchionatti E, Stengård M, Wolf-Hofstetter S, Paris JM, Jacinto JGP, Watté C, Voelter K, Occelli LM, Komáromy AM, Oevermann A, Goepfert C, Borgo A, Roduit R, Spengeler M, Seefried FR, Drögemüller C. Häfliger IM, et al. Among authors: occelli lm. Int J Mol Sci. 2021 Nov 18;22(22):12440. doi: 10.3390/ijms222212440. Int J Mol Sci. 2021. PMID: 34830323 Free PMC article.
A large animal model for CNGB1 autosomal recessive retinitis pigmentosa.
Winkler PA, Ekenstedt KJ, Occelli LM, Frattaroli AV, Bartoe JT, Venta PJ, Petersen-Jones SM. Winkler PA, et al. Among authors: occelli lm. PLoS One. 2013 Aug 19;8(8):e72229. doi: 10.1371/journal.pone.0072229. eCollection 2013. PLoS One. 2013. PMID: 23977260 Free PMC article.
Localized alopecia and suppression of hypothalamic-pituitary-adrenal (HPA) axis in dogs following treatment with difluprednate 0.05% ophthalmic emulsion (Durezol®).
Quantz K, Anderson AL, Harman CD, Noland EL, Del Valle JM, Occelli LM, Burn JB, Petersen-Jones SM, Langlois DK, Pirie CG, Petersen AD, Komáromy AM. Quantz K, et al. Among authors: occelli lm. BMC Vet Res. 2021 Dec 1;17(1):366. doi: 10.1186/s12917-021-03072-9. BMC Vet Res. 2021. PMID: 34847929 Free PMC article.
Early-Onset Progressive Degeneration of the Area Centralis in RPE65-Deficient Dogs.
Mowat FM, Gervais KJ, Occelli LM, Annear MJ, Querubin J, Bainbridge JW, Smith AJ, Ali RR, Petersen-Jones SM. Mowat FM, et al. Among authors: occelli lm. Invest Ophthalmol Vis Sci. 2017 Jun 1;58(7):3268-3277. doi: 10.1167/iovs.17-21930. Invest Ophthalmol Vis Sci. 2017. PMID: 28662231 Free article.
Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach.
Petersen-Jones SM, Occelli LM, Winkler PA, Lee W, Sparrow JR, Tsukikawa M, Boye SL, Chiodo V, Capasso JE, Becirovic E, Schön C, Seeliger MW, Levin AV, Michalakis S, Hauswirth WW, Tsang SH. Petersen-Jones SM, et al. Among authors: occelli lm. J Clin Invest. 2018 Jan 2;128(1):190-206. doi: 10.1172/JCI95161. Epub 2017 Nov 20. J Clin Invest. 2018. PMID: 29202463 Free PMC article.
A large animal model of RDH5-associated retinopathy recapitulates important features of the human phenotype.
Occelli LM, Daruwalla A, De Silva SR, Winkler PA, Sun K, Pasmanter N, Minella A, Querubin J, Lyons LA; 99 Lives Consortium; Robson AG, Heon E, Michaelides M, Webster AR, Palczewski K, Vincent A, Mahroo OA, Kiser PD, Petersen-Jones SM. Occelli LM, et al. Hum Mol Genet. 2022 Apr 22;31(8):1263-1277. doi: 10.1093/hmg/ddab316. Hum Mol Genet. 2022. PMID: 34726233 Free PMC article.
35 results