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Journal Abstract Search

180 related items for PubMed ID: 30785396

  • 21.
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  • 22. A Mouse Model of Schnyder Corneal Dystrophy with the N100S Point Mutation.
    Dong F, Jin X, Boettler MA, Sciulli H, Abu-Asab M, Del Greco C, Wang S, Hu YC, Campos MM, Jackson SN, Muller L, Woods AS, Combs CA, Zhang J, Nickerson ML, Kruth HS, Weiss JS, Kao WW.
    Sci Rep; 2018 Jul 05; 8(1):10219. PubMed ID: 29977031
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  • 23.
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  • 24. UbiA prenyltransferase domain-containing protein 1 (UBIAD1) variant c.695 A > G identified in a multigenerational Japanese family with Schnyder corneal dystrophy.
    Tsuneya M, Chen LW, Ono T, Hashimoto Y, Kitamoto K, Taketani Y, Toyono T, Aihara M, Miyai T.
    Jpn J Ophthalmol; 2023 Jan 05; 67(1):38-42. PubMed ID: 36367598
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  • 27. Newly reported p.Asp240Asn mutation in UBIAD1 suggests central discoid corneal dystrophy is a variant of Schnyder corneal dystrophy.
    Weiss JS, Wiaux C, Yellore V, Raber I, Eagle R, Mequio M, Aldave A.
    Cornea; 2010 Jul 05; 29(7):777-80. PubMed ID: 20489584
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  • 31. "Mallostery"-ligand-dependent protein misfolding enables physiological regulation by ERAD.
    Wangeline MA, Hampton RY.
    J Biol Chem; 2018 Sep 21; 293(38):14937-14950. PubMed ID: 30018140
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  • 32.
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  • 33. [Mutation in the UBIAD1 gene of a Chinese family with Schnyder crystal corneal dystrophy].
    Tao SY, Wang LY, Yu XF, Niu C, Pang CJ.
    Zhonghua Yi Xue Za Zhi; 2012 Dec 04; 92(45):3215-7. PubMed ID: 23328470
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  • 34.
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  • 35. Mutations in the UBIAD1 gene on chromosome short arm 1, region 36, cause Schnyder crystalline corneal dystrophy.
    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.
    Invest Ophthalmol Vis Sci; 2007 Nov 04; 48(11):5007-12. PubMed ID: 17962451
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  • 36.
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  • 38. An autonomous, but INSIG-modulated, role for the sterol sensing domain in mallostery-regulated ERAD of yeast HMG-CoA reductase.
    Wangeline MA, Hampton RY.
    J Biol Chem; 2021 Nov 04; 296():100063. PubMed ID: 33184059
    [Abstract] [Full Text] [Related]

  • 39. Differential diagnosis of Schnyder corneal dystrophy.
    Weiss JS, Khemichian AJ.
    Dev Ophthalmol; 2011 Nov 04; 48():67-96. PubMed ID: 21540632
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  • 40.
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