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Volumn 15, Issue , 2009, Pages 1463-1469

A novel UBIAD1 mutation identified in a Chinese family with Schnyder crystalline corneal dystrophy

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; UBIA PRENYLTRANSFERASE DOMAIN CONTAINING PROTEIN 1; UNCLASSIFIED DRUG;

EID: 68149158504     PISSN: None     EISSN: 10900535     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (14)

References (15)
  • 1
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    • Weiss, J.S.1
  • 2
    • 0033510541 scopus 로고    scopus 로고
    • In vivo confocal microscopy of a family with Schnyder crystalline corneal dystrophy
    • Vesaluoma MH, Linna TU, Sankiia EM, Weiss JS, Tervo TM. In vivo confocal microscopy of a family with Schnyder crystalline corneal dystrophy. Ophthalmology 1999; 106:944-51.
    • (1999) Ophthalmology , vol.106 , pp. 944-951
    • Vesaluoma, M.H.1    Linna, T.U.2    Sankiia, E.M.3    Weiss, J.S.4    Tervo, T.M.5
  • 3
    • 0035159943 scopus 로고    scopus 로고
    • Morphological evaluation of Schnyder's central crystalline dystrophy by confocal microscopy before and after phototherapeutic keratectomy
    • Ciancaglini M, Carpineto P, Doronzo E, Nubile M, Zuppardi E, Mastropasqua L. Morphological evaluation of Schnyder's central crystalline dystrophy by confocal microscopy before and after phototherapeutic keratectomy. J Cataract Refract Surg 2001; 27:1892-5.
    • (2001) J Cataract Refract Surg , vol.27 , pp. 1892-1895
    • Ciancaglini, M.1    Carpineto, P.2    Doronzo, E.3    Nubile, M.4    Zuppardi, E.5    Mastropasqua, L.6
  • 7
    • 34848859527 scopus 로고    scopus 로고
    • Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy
    • Yellore VS, Khan MA, Bourla N, Rayner SA, Chen MC, Sonmez B, Momi RS, Sampat KM, Gorin MB, Aldave AJ. Identification of mutations in UBIAD1 following exclusion of coding mutations in the chromosome 1p36 locus for Schnyder crystalline corneal dystrophy. Mol Vis 2007; 13:1777-82.
    • (2007) Mol Vis , vol.13 , pp. 1777-1782
    • Yellore, V.S.1    Khan, M.A.2    Bourla, N.3    Rayner, S.A.4    Chen, M.C.5    Sonmez, B.6    Momi, R.S.7    Sampat, K.M.8    Gorin, M.B.9    Aldave, A.J.10
  • 11
    • 26444593995 scopus 로고    scopus 로고
    • An interaction between apolipoprotein E and TERE1 with a possible association with bladder tumor formation
    • McGarvey TW, Nguyen TB, Malkowicz SB. An interaction between apolipoprotein E and TERE1 with a possible association with bladder tumor formation. J Cell Biochem 2005; 95:419-28.
    • (2005) J Cell Biochem , vol.95 , pp. 419-428
    • McGarvey, T.W.1    Nguyen, T.B.2    Malkowicz, S.B.3
  • 12
    • 0029989388 scopus 로고    scopus 로고
    • Apolopoprotein E produced by human monocyte-derived macrophages mediates cholesterol efflux that occurs in the absence of added cholesterol acceptors
    • Zhang WY, Gaynor PM, Kruth HS. Apolopoprotein E produced by human monocyte-derived macrophages mediates cholesterol efflux that occurs in the absence of added cholesterol acceptors. J Biochem 1996; 271:28641-6.
    • (1996) J Biochem , vol.271 , pp. 28641-28646
    • Zhang, W.Y.1    Gaynor, P.M.2    Kruth, H.S.3
  • 13
    • 0024370057 scopus 로고
    • Ultrastructural changes in the posterior layers of the cornea in Schnyder's crystalline dystrophy
    • Freddo TF, Polack FM, Leibowitz HM. Ultrastructural changes in the posterior layers of the cornea in Schnyder's crystalline dystrophy. Cornea 1989; 8:170-7.
    • (1989) Cornea , vol.8 , pp. 170-177
    • Freddo, T.F.1    Polack, F.M.2    Leibowitz, H.M.3
  • 14
    • 0015345372 scopus 로고
    • Hereditary crystalline stromal dystrophy of Schnyder
    • Garner A, Tripathi RC. Hereditary crystalline stromal dystrophy of Schnyder. Br J Ophthalmol 1972; 56:400-8.
    • (1972) Br J Ophthalmol , vol.56 , pp. 400-408
    • Garner, A.1    Tripathi, R.C.2
  • 15
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    • Crystalline stromal dystrophy: Histochemistry and ultrastructure of the cornea
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* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.