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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: chiang wc. 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.
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: chiang wc. 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.
Endoplasmic reticulum stress in human photoreceptor diseases.
Chan P, Stolz J, Kohl S, Chiang WC, Lin JH. Chan P, et al. Among authors: chiang wc. Brain Res. 2016 Oct 1;1648(Pt B):538-541. doi: 10.1016/j.brainres.2016.04.021. Epub 2016 Apr 23. Brain Res. 2016. PMID: 27117871 Free PMC article. Review.
Achromatopsia mutations target sequential steps of ATF6 activation.
Chiang WC, Chan P, Wissinger B, Vincent A, Skorczyk-Werner A, Krawczyński MR, Kaufman RJ, Tsang SH, Héon E, Kohl S, Lin JH. Chiang WC, et al. Proc Natl Acad Sci U S A. 2017 Jan 10;114(2):400-405. doi: 10.1073/pnas.1606387114. Epub 2016 Dec 27. Proc Natl Acad Sci U S A. 2017. PMID: 28028229 Free PMC article.
The unfolded protein response regulator ATF6 promotes mesodermal differentiation.
Kroeger H, Grimsey N, Paxman R, Chiang WC, Plate L, Jones Y, Shaw PX, Trejo J, Tsang SH, Powers E, Kelly JW, Wiseman RL, Lin JH. Kroeger H, et al. Among authors: chiang wc. Sci Signal. 2018 Feb 13;11(517):eaan5785. doi: 10.1126/scisignal.aan5785. Sci Signal. 2018. PMID: 29440509 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: chiang wc. 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.
370 results