PMC Links for Nucleotide (Select 1813761859) - PMC

Select item 66688511.

Schnyder corneal dystrophy-associated UBIAD1 mutations cause corneal cholesterol accumulation by stabilizing HMG-CoA reductase

Shi-You Jiang, Jing-Jie Tang, Xu Xiao, Wei Qi, Suqian Wu, Chao Jiang, Jiaxu Hong, Jianjiang Xu, Bao-Liang Song, Jie Luo

PLoS Genet. 2019 Jul; 15(7): e1008289. Published online 2019 Jul 19. doi: 10.1371/journal.pgen.1008289

PMCID:: PMC6668851

Abstract Article PDF–4.1M

Select item 62816002.

UBIAD1 suppresses the proliferation of bladder carcinoma cells by regulating H-Ras intracellular trafficking via interaction with the C-terminal domain of H-Ras

Zhiliang Xu, Fengsen Duan, Huiai Lu, Maytham Abdulkadhim Dragh, Yanzhi Xia, Huageng Liang, Ling Hong

Cell Death Dis. 2018 Dec; 9(12): 1170. Published online 2018 Dec 5. doi: 10.1038/s41419-018-1215-4

PMCID:: PMC6281600

Abstract Article PDF–4.4M

Select item 62087193.

Clinical diversity in patients with Schnyder corneal dystrophy—a novel and known UBIAD1 pathogenic variants

Anna Sarosiak, Monika Udziela, Aneta Ścieżyńska, Dominika Oziębło, Anna Wawrzynowska, Jacek P. Szaflik, Monika Ołdak

Graefes Arch Clin Exp Ophthalmol. 2018; 256(11): 2127–2134. Published online 2018 Aug 6. doi: 10.1007/s00417-018-4075-9

PMCID:: PMC6208719

Abstract Article PDF–3.6M

Select item 61423414.

Schnyder corneal dystrophy and associated phenotypes caused by novel and recurrent mutations in the UBIAD1 gene

Cerys J. Evans, Lubica Dudakova, Pavlina Skalicka, Gabriela Mahelkova, Ales Horinek, Alison J. Hardcastle, Stephen J. Tuft, Petra Liskova

BMC Ophthalmol. 2018; 18: 250. Published online 2018 Sep 17. doi: 10.1186/s12886-018-0918-8

PMCID:: PMC6142341

Abstract Article PDF–5.4M

Select item 19251475.

Mutations in the UBIAD1 Gene, Encoding a Potential Prenyltransferase, Are Causal for Schnyder Crystalline Corneal Dystrophy

Andrew Orr, Marie-Pierre Dubé, Julien Marcadier, Haiyan Jiang, Antonio Federico, Stanley George, Christopher Seamone, David Andrews, Paul Dubord, Simon Holland, Sylvie Provost, Vanessa Mongrain, Susan Evans, Brent Higgins, Sharen Bowman, Duane Guernsey, Mark Samuels

PLoS One. 2007; 2(8): e685. Published online 2007 Aug 1. doi: 10.1371/journal.pone.0000685

PMCID:: PMC1925147

Abstract Article PDF–701K

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