Below are the most recent publications written about "Eye Proteins" by people in Profiles.
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Antonietti M, Taylor Gonzalez DJ, Djulbegovic MB, Gameiro GR, Uversky VN, Sridhar J, Karp CL. Intrinsic disorder in the human vitreous proteome. Int J Biol Macromol. 2024 May; 267(Pt 1):131274.
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Munir A, Afsar S, Rehman AU. A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023. BMC Ophthalmol. 2024 Feb 05; 24(1):55.
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Bello NR, Pisuchpen P, de Guimar?es TAC, Capasso JE, Levin AV. TWO CASES OF CRB1-RELATED RETINAL DYSTROPHY ASSOCIATED WITH RETINAL MASSES. Retin Cases Brief Rep. 2023 Nov 01; 17(6):714-718.
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Ullah M, Rehman AU, Folcher M, Ullah A, Usman F, Rashid A, Khan B, Quinodoz M, Ansar M, Rivolta C. A Novel Intronic Deletion in PDE6B Causes Autosomal Recessive Retinitis Pigmentosa by Interfering with RNA Splicing. Ophthalmic Res. 2023; 66(1):878-884.
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Aziz N, Ullah M, Rashid A, Hussain Z, Shah K, Awan A, Khan M, Ullah I, Rehman AU. A novel homozygous missense substitution p.Thr313Ile in the PDE6B gene underlies autosomal recessive retinitis pigmentosa in a consanguineous Pakistani family. BMC Ophthalmol. 2023 Mar 23; 23(1):116.
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Jimenez HJ, Procopio RA, Thuma TBT, Marra MH, Izquierdo N, Klufas MA, Nagiel A, Pennesi ME, Pulido JS. Signal Peptide Variants in Inherited Retinal Diseases: A Multi-Institutional Case Series. Int J Mol Sci. 2022 Nov 01; 23(21).
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Tanner A, Chan HW, Schiff E, Mahroo OA, Pulido JS. Exploring the mutational landscape of genes associated with inherited retinal disease using large genomic datasets: identifying loss of function intolerance and outlying propensities for missense changes. BMJ Open Ophthalmol. 2022 08; 7(1).
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Biswas P, Villanueva AL, Soto-Hermida A, Duncan JL, Matsui H, Borooah S, Kurmanov B, Richard G, Khan SY, Branham K, Huang B, Suk J, Bakall B, Goldberg JL, Gabriel L, Khan NW, Raghavendra PB, Zhou J, Devalaraja S, Huynh A, Alapati A, Zawaydeh Q, Weleber RG, Heckenlively JR, Hejtmancik JF, Riazuddin S, Sieving PA, Riazuddin SA, Frazer KA, Ayyagari R. Deciphering the genetic architecture and ethnographic distribution of IRD in three ethnic populations by whole genome sequence analysis. PLoS Genet. 2021 10; 17(10):e1009848.
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Rehman AU, Sepahi N, Bedoni N, Ravesh Z, Salmaninejad A, Cancellieri F, Peter VG, Quinodoz M, Mojarrad M, Pasdar A, Asad AG, Ghalamkari S, Piran M, Piran M, Superti-Furga A, Rivolta C. Whole exome sequencing in 17 consanguineous Iranian pedigrees expands the mutational spectrum of inherited retinal dystrophies. Sci Rep. 2021 09 29; 11(1):19332.
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Doke T, Huang S, Qiu C, Liu H, Guan Y, Hu H, Ma Z, Wu J, Miao Z, Sheng X, Zhou J, Cao A, Li J, Kaufman L, Hung A, Brown CD, Pestell R, Susztak K. Transcriptome-wide association analysis identifies DACH1 as a kidney disease risk gene that contributes to fibrosis. J Clin Invest. 2021 05 17; 131(10).