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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: swaroop a. 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.
A novel locus (RP24) for X-linked retinitis pigmentosa maps to Xq26-27.
Gieser L, Fujita R, Göring HH, Ott J, Hoffman DR, Cideciyan AV, Birch DG, Jacobson SG, Swaroop A. Gieser L, et al. Among authors: swaroop a. Am J Hum Genet. 1998 Nov;63(5):1439-47. doi: 10.1086/302121. Am J Hum Genet. 1998. PMID: 9792872 Free PMC article.
Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.
Friedman JS, Ray JW, Waseem N, Johnson K, Brooks MJ, Hugosson T, Breuer D, Branham KE, Krauth DS, Bowne SJ, Sullivan LS, Ponjavic V, Gränse L, Khanna R, Trager EH, Gieser LM, Hughbanks-Wheaton D, Cojocaru RI, Ghiasvand NM, Chakarova CF, Abrahamson M, Göring HH, Webster AR, Birch DG, Abecasis GR, Fann Y, Bhattacharya SS, Daiger SP, Heckenlively JR, Andréasson S, Swaroop A. Friedman JS, et al. Among authors: swaroop a. Am J Hum Genet. 2009 Jun;84(6):792-800. doi: 10.1016/j.ajhg.2009.05.007. Am J Hum Genet. 2009. PMID: 19520207 Free PMC article.
460 results