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Genetic analysis of 10 pedigrees with inherited retinal degeneration by exome sequencing and phenotype-genotype association.
Biswas P, Duncan JL, Maranhao B, Kozak I, Branham K, Gabriel L, Lin JH, Barteselli G, Navani M, Suk J, Parke M, Schlechter C, Weleber RG, Heckenlively JR, Dagnelie G, Lee P, Riazuddin SA, Ayyagari R. Biswas P, et al. Among authors: lin jh. Physiol Genomics. 2017 Apr 1;49(4):216-229. doi: 10.1152/physiolgenomics.00096.2016. Epub 2017 Jan 27. Physiol Genomics. 2017. PMID: 28130426 Free PMC article.
Reticular Pseudodrusen in Late-Onset Retinal Degeneration.
Borooah S, Papastavrou V, Lando L, Han J, Lin JH, Ayyagari R, Dhillon B, Browning AC. Borooah S, et al. Among authors: lin jh. Ophthalmol Retina. 2021 Oct;5(10):1043-1051. doi: 10.1016/j.oret.2020.12.012. Epub 2020 Dec 22. Ophthalmol Retina. 2021. PMID: 33352318 Free PMC article.
Misfolded proteins and retinal dystrophies.
Lin JH, Lavail MM. Lin JH, et al. Adv Exp Med Biol. 2010;664:115-21. doi: 10.1007/978-1-4419-1399-9_14. Adv Exp Med Biol. 2010. PMID: 20238009 Free PMC article. Review.
Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia.
Kohl S, Zobor D, Chiang WC, Weisschuh N, Staller J, Gonzalez Menendez I, Chang S, Beck SC, Garcia Garrido M, Sothilingam V, Seeliger MW, Stanzial F, Benedicenti F, Inzana F, Héon E, Vincent A, Beis J, Strom TM, Rudolph G, Roosing S, Hollander AI, Cremers FP, Lopez I, Ren H, Moore AT, Webster AR, Michaelides M, Koenekoop RK, Zrenner E, Kaufman RJ, Tsang SH, Wissinger B, Lin JH. Kohl S, et al. Among authors: lin jh. Nat Genet. 2015 Jul;47(7):757-65. doi: 10.1038/ng.3319. Epub 2015 Jun 1. Nat Genet. 2015. PMID: 26029869 Free PMC article.
Autosomal recessive cone-rod dystrophy can be caused by mutations in the ATF6 gene.
Skorczyk-Werner A, Chiang WC, Wawrocka A, Wicher K, Jarmuż-Szymczak M, Kostrzewska-Poczekaj M, Jamsheer A, Płoski R, Rydzanicz M, Pojda-Wilczek D, Weisschuh N, Wissinger B, Kohl S, Lin JH, Krawczyński MR. Skorczyk-Werner A, et al. Among authors: lin jh. Eur J Hum Genet. 2017 Nov;25(11):1210-1216. doi: 10.1038/ejhg.2017.131. Epub 2017 Aug 16. Eur J Hum Genet. 2017. PMID: 28812650 Free PMC article.
1,960 results