| 1 | SCCD, UBIAD1
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| Structure of a membrane-embedded prenyltransferase homologous to UBIAD1.
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| Huang H, Levin EJ, Liu S, Bai Y, Lockless SW, Zhou M.
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| PLoS Biol 12(7):e1001911. doi: 10.1371/journal.pbio.1001911. eCollection 2014 Jul.
2014
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| 2 | SCCD, UBIAD1
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| The UBIAD1 prenyltransferase links menaquinone-4 [corrected] synthesis to cholesterol metabolic enzymes.
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| Nickerson ML, Bosley AD, Weiss JS, Kostiha BN, Hirota Y, Brandt W, Esposito D, Kinoshita S, Wessjohann L, Morham SG, Andresson T, Kruth HS, Okano T, Dean M.
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| Hum Mutat 34(2):317-29. doi: 10.1002/humu.22230. Epub 2012 Nov 27. Erratum in: Hum Mutat. 2013 Jul;34(7):1046.
2013
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| 3 | SCCD, UBIAD1
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| A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy.
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| Jing Y, Liu C, Xu J, Wang L.
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| Mol Vis 15:1463-9.PMID: 19649163 2009
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| 4 | SCCD, UBIAD1
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| Genetic analysis of 14 families with Schnyder crystalline corneal dystrophy reveals clues to UBIAD1 protein function.
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| Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, Karkera J, Mahurkar S, Lisch W, Dupps WJ Jr, White PS, Winters RS, Kim C, Rapuano CJ, Sutphin J, Reidy J, Hu FR, Lu da W, Ebenezer N, Nickerson ML.
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| Am J Med Genet A 146(3):271-83. 2008
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| 5 | UBIAD1, SCCD
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| Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy.
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| Yellore VS, Khan MA, Bourla N, Rayner SA, Chen MC, Sonmez B, Momi RS, Sampat KM, Gorin MB, Aldave AJ.
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| Mol Vis 13:1777-82. 2007
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| 6 | UBIAD1, SCCD
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| Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy.
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| Weiss JS, Kruth HS, Kuivaniemi H, Tromp G, White PS, Winters RS, Lisch W, Henn W, Denninger E, Krause M, Wasson P, Ebenezer N, Mahurkar S, Nickerson ML.
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| Invest Ophthalmol Vis Sci 48(11):5007-12. 2007
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| 7 | UBIAD1, SCCD
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| Mutations in the UBIAD1 gene, encoding a potential prenyltransferase, are causal for Schnyder crystalline corneal dystrophy.
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| Orr A, Dubˇ MP, Marcadier J, Jiang H, Federico A, George S, Seamone C, Andrews D, Dubord P, Holland S, Provost S, Mongrain V, Evans S, Higgins B, Bowman S, Guernsey D, Samuels M.
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| PLoS ONE 2(1):e685. 2007
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| 8 | SCCD
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| Fine mapping of the Schnyder's crystalline corneal dystrophy locus.
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| Theendakara V, Tromp G, Kuivaniemi H, White PS, Panchal S, Cox J, Winters RS, Riebeling P, Tost F, Hoeltzenbein M, Tervo TM, Henn W, Denniger E, Krause M, Koksal M, Kargi S, Ugurbas SH, Latvala T, Shearman AM, Weiss JS.
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| Hum Genet 114(6):594-600. Epub 2004 Mar 19. 2004
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| 9 | SCCD
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| The gene for Schnyder's crystalline corneal dystrophy maps to human chromosome 1p34.1-p36.
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| Shearman AM, et al.
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| Hum Mol Genet 5 : 1667-1672. 1995
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