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REEP6 mediates trafficking of a subset of Clathrin-coated vesicles and is critical for rod photoreceptor function and survival.
Veleri S, Nellissery J, Mishra B, Manjunath SH, Brooks MJ, Dong L, Nagashima K, Qian H, Gao C, Sergeev YV, Huang XF, Qu J, Lu F, Cideciyan AV, Li T, Jin ZB, Fariss RN, Ratnapriya R, Jacobson SG, Swaroop A. Veleri S, et al. Among authors: fariss rn. Hum Mol Genet. 2017 Jun 15;26(12):2218-2230. doi: 10.1093/hmg/ddx111. Hum Mol Genet. 2017. PMID: 28369466 Free PMC article.
Rare and common variants in extracellular matrix gene Fibrillin 2 (FBN2) are associated with macular degeneration.
Ratnapriya R, Zhan X, Fariss RN, Branham KE, Zipprer D, Chakarova CF, Sergeev YV, Campos MM, Othman M, Friedman JS, Maminishkis A, Waseem NH, Brooks M, Rajasimha HK, Edwards AO, Lotery A, Klein BE, Truitt BJ, Li B, Schaumberg DA, Morgan DJ, Morrison MA, Souied E, Tsironi EE, Grassmann F, Fishman GA, Silvestri G, Scholl HP, Kim IK, Ramke J, Tuo J, Merriam JE, Merriam JC, Park KH, Olson LM, Farrer LA, Johnson MP, Peachey NS, Lathrop M, Baron RV, Igo RP Jr, Klein R, Hagstrom SA, Kamatani Y, Martin TM, Jiang Y, Conley Y, Sahel JA, Zack DJ, Chan CC, Pericak-Vance MA, Jacobson SG, Gorin MB, Klein ML, Allikmets R, Iyengar SK, Weber BH, Haines JL, Léveillard T, Deangelis MM, Stambolian D, Weeks DE, Bhattacharya SS, Chew EY, Heckenlively JR, Abecasis GR, Swaroop A. Ratnapriya R, et al. Among authors: fariss rn. Hum Mol Genet. 2014 Nov 1;23(21):5827-37. doi: 10.1093/hmg/ddu276. Epub 2014 Jun 4. Hum Mol Genet. 2014. PMID: 24899048 Free PMC article.
Conditional knockdown of DNA methyltransferase 1 reveals a key role of retinal pigment epithelium integrity in photoreceptor outer segment morphogenesis.
Nasonkin IO, Merbs SL, Lazo K, Oliver VF, Brooks M, Patel K, Enke RA, Nellissery J, Jamrich M, Le YZ, Bharti K, Fariss RN, Rachel RA, Zack DJ, Rodriguez-Boulan EJ, Swaroop A. Nasonkin IO, et al. Among authors: fariss rn. Development. 2013 Mar;140(6):1330-41. doi: 10.1242/dev.086603. Epub 2013 Feb 13. Development. 2013. PMID: 23406904 Free PMC article.
Loss of endocytosis-associated RabGEF1 causes aberrant morphogenesis and altered autophagy in photoreceptors leading to retinal degeneration.
Hargrove-Grimes P, Mondal AK, Gumerson J, Nellissery J, Aponte AM, Gieser L, Qian H, Fariss RN, Bonifacino JS, Li T, Swaroop A. Hargrove-Grimes P, et al. Among authors: fariss rn. PLoS Genet. 2020 Dec 23;16(12):e1009259. doi: 10.1371/journal.pgen.1009259. eCollection 2020 Dec. PLoS Genet. 2020. PMID: 33362196 Free PMC article.
128 results