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CEP162 deficiency causes human retinal degeneration and reveals a dual role in ciliogenesis and neurogenesis.
Nuzhat N, Van Schil K, Liakopoulos S, Bauwens M, Rey AD, Käseberg S, Jäger M, Willer JR, Winter J, Truong HM, Gruartmoner N, Van Heetvelde M, Wolf J, Merget R, Grasshoff-Derr S, Van Dorpe J, Hoorens A, Stöhr H, Mansard L, Roux AF, Langmann T, Dannhausen K, Rosenkranz D, Wissing KM, Van Lint M, Rossmann H, Häuser F, Nürnberg P, Thiele H, Zechner U, Pearring JN, De Baere E, Bolz HJ. Nuzhat N, et al. Among authors: pearring jn. J Clin Invest. 2023 Apr 17;133(8):e161156. doi: 10.1172/JCI161156. J Clin Invest. 2023. PMID: 36862503 Free PMC article.
PRCD is essential for high-fidelity photoreceptor disc formation.
Spencer WJ, Ding JD, Lewis TR, Yu C, Phan S, Pearring JN, Kim KY, Thor A, Mathew R, Kalnitsky J, Hao Y, Travis AM, Biswas SK, Lo WK, Besharse JC, Ellisman MH, Saban DR, Burns ME, Arshavsky VY. Spencer WJ, et al. Among authors: pearring jn. Proc Natl Acad Sci U S A. 2019 Jun 25;116(26):13087-13096. doi: 10.1073/pnas.1906421116. Epub 2019 Jun 12. Proc Natl Acad Sci U S A. 2019. PMID: 31189593 Free PMC article.
Protein sorting, targeting and trafficking in photoreceptor cells.
Pearring JN, Salinas RY, Baker SA, Arshavsky VY. Pearring JN, et al. Prog Retin Eye Res. 2013 Sep;36:24-51. doi: 10.1016/j.preteyeres.2013.03.002. Epub 2013 Apr 3. Prog Retin Eye Res. 2013. PMID: 23562855 Free PMC article. Review.
Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.
van Genderen MM, Bijveld MM, Claassen YB, Florijn RJ, Pearring JN, Meire FM, McCall MA, Riemslag FC, Gregg RG, Bergen AA, Kamermans M. van Genderen MM, et al. Among authors: pearring jn. Am J Hum Genet. 2009 Nov;85(5):730-6. doi: 10.1016/j.ajhg.2009.10.012. Epub 2009 Nov 5. Am J Hum Genet. 2009. PMID: 19896109 Free PMC article.
GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness.
Peachey NS, Ray TA, Florijn R, Rowe LB, Sjoerdsma T, Contreras-Alcantara S, Baba K, Tosini G, Pozdeyev N, Iuvone PM, Bojang P Jr, Pearring JN, Simonsz HJ, van Genderen M, Birch DG, Traboulsi EI, Dorfman A, Lopez I, Ren H, Goldberg AF, Nishina PM, Lachapelle P, McCall MA, Koenekoop RK, Bergen AA, Kamermans M, Gregg RG. Peachey NS, et al. Among authors: pearring jn. Am J Hum Genet. 2012 Feb 10;90(2):331-9. doi: 10.1016/j.ajhg.2011.12.006. Am J Hum Genet. 2012. PMID: 22325362 Free PMC article.
Depolarizing bipolar cell dysfunction due to a Trpm1 point mutation.
Peachey NS, Pearring JN, Bojang P Jr, Hirschtritt ME, Sturgill-Short G, Ray TA, Furukawa T, Koike C, Goldberg AF, Shen Y, McCall MA, Nawy S, Nishina PM, Gregg RG. Peachey NS, et al. Among authors: pearring jn. J Neurophysiol. 2012 Nov;108(9):2442-51. doi: 10.1152/jn.00137.2012. Epub 2012 Aug 15. J Neurophysiol. 2012. PMID: 22896717 Free PMC article.
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