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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.
De novo prion aggregates trigger autophagy in skeletal muscle.
Joshi-Barr S, Bett C, Chiang WC, Trejo M, Goebel HH, Sikorska B, Liberski P, Raeber A, Lin JH, Masliah E, Sigurdson CJ. Joshi-Barr S, et al. Among authors: lin jh. J Virol. 2014 Feb;88(4):2071-82. doi: 10.1128/JVI.02279-13. Epub 2013 Dec 4. J Virol. 2014. PMID: 24307586 Free PMC article.
Multiple Mechanisms of Unfolded Protein Response-Induced Cell Death.
Hiramatsu N, Chiang WC, Kurt TD, Sigurdson CJ, Lin JH. Hiramatsu N, et al. Among authors: lin jh. Am J Pathol. 2015 Jul;185(7):1800-8. doi: 10.1016/j.ajpath.2015.03.009. Epub 2015 May 5. Am J Pathol. 2015. PMID: 25956028 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.
1,962 results