| 1 | EFEMP1, SOX9
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| Fibulin-3 negatively regulates chondrocyte differentiation.
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| Wakabayashi T, Matsumine A, Nakazora S, Hasegawa M, Iino T, Ota H, Sonoda H, Sudo A, Uchida A.
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| Biochem Biophys Res Commun 391(1):1116-21. Epub 2009 Dec 11.PMID: 20005202 2010
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| 2 | EFEMP1
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| A novel haplotype with the R345W mutation in the EFEMP1 gene associated with autosomal dominant drusen in a Japanese family.
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| Takeuchi T, Hayashi T, Bedell M, Zhang K, Yamada H, Tsuneoka H.
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| Invest Ophthalmol Vis Sci. 51(3):1643-50. 2010
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| 3 | EFEMP1, GREM1, PRELP
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| Molecular differentiation in epiphyseal and physeal cartilage. Prominent role for gremlin in maintaining hypertrophic chondrocytes in epiphyseal cartilage.
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| Shapiro F, Flynn E, Calicchio ML.
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| Biochem Biophys Res Commun 390(3):570-6. Epub 2009 Oct 8.PMID: 19818739 2009
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| 4 | EFEMP1
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| Fibulin-3 is uniquely upregulated in malignant gliomas and promotes tumor cell motility and invasion.
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| Hu B, Thirtamara-Rajamani KK, Sim H, Viapiano MS.
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| Mol Cancer Res 7(11):1756-70. Epub 2009 Nov 3.PMID: 19887559 2009
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| 5 | EFEMP1
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| EFEMP1 expression promotes in vivo tumor growth in human pancreatic adenocarcinoma.
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| Seeliger H, Camaj P, Ischenko I, Kleespies A, De Toni EN, Thieme SE, Blum H, Assmann G, Jauch KW, Bruns CJ.
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| Mol Cancer Res 7(2):189-98. Epub 2009 Feb 10.PMID: 19208748 2009
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| 6 | DHRD, EFEMP1
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| Expression and cell compartmentalization of EFEMP1, a protein associated with Malattia Leventinese.
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| Kundzewicz A, Munier F, Matter JM.
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| Adv Exp Med Biol 613:277-81. No abstract available. PMID: 18188955 2008
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| 7 | EFEMP1, DHRD
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| Formation and progression of sub-retinal pigment epithelium deposits in Efemp1 mutation knock-in mice: a model for the early pathogenic course of macular degeneration.
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| Marmorstein LY, McLaughlin PJ, Peachey NS, Sasaki T, Marmorstein AD.
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| Hum Mol Genet 16(20):3423-32. Epub 2007 Jul 30. 2007
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| 8 | EFEMP1, DHRD
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| The R345W mutation in EFEMP1 is pathogenic and causes AMD-like deposits in mice.
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| Fu L, Garland D, Yang Z, Shukla D, Rajendran A, Pearson E, Stone EM, Zhang K, Pierce EA.
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| Hum Mol Genet 16(20):3411-22. Epub 2007 Jul 30. 2007
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| 9 | EFEMP1
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| Lack of fibulin-3 causes early aging and herniation, but not macular degeneration in mice.
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| McLaughlin PJ, Bakall B, Choi J, Liu Z, Sasaki T, Davis EC, Marmorstein AD, Marmorstein LY.
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| Hum. Molec. Genet. 16(24):3059-70. 2007
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| 10 | EFEMP1
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| Maculopathy due to the R345W substitution in fibulin-3: distinct clinical features, disease variability, and extent of retinal dysfunction.
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| Michaelides M, Jenkins SA, Brantley MA Jr, Andrews RM, Waseem N, Luong V, Gregory-Evans K, Bhattacharya SS, Fitzke FW, Webster AR.
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| Invest Ophthalmol Vis Sci 47(7):3085-97. 2006
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| 11 | AGPAT6, AGTPBP1, AJUBA, BATF2, BEND2, CCDC107, CELF2, CSTF2, ECM1, EFEMP1, FAM127A, ITGB4, KIF17, LTBP4, NELF, NETS, NPHP1, PCDRS, PEG3, PELI2, PTPRN, PTPRN2, RAD54L2, RBFOX1, RBFOX2, RBPMS, RHOXF1, SCAMP1, SPINK5, TAF9, THAP1, TTC19, UBE2E3, UCHL3, WDYHV1, ZFPM2, ZNF488
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| A protein-protein interaction network for human inherited ataxias and disorders of Purkinje cell degeneration.
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| Lim J, Hao T, Shaw C, Patel AJ, Szabo G, Rual JF, Fisk CJ, Li N, Smolyar A, Hill DE, Barabasi AL, Vidal M, Zoghbi HY.
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| Cell 125(4):801-14. 2006
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| 12 | ARMD4, EFEMP1
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| Dissection of genomewide-scan data in extended families reveals a major locus and oligogenic susceptibility for age-related macular degeneration.
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| Iyengar SK, Song D, Klein BE, Klein R, Schick JH, Humphrey J, Millard C, Liptak R, Russo K, Jun G, Lee KE, Fijal B, Elston RC.
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| Am J Hum Genet 74(1):20-39. Epub 2003 Dec 19. 2004
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| 13 | DHRD, EFEMP1
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| Association of EFEMP1 with malattia leventinese and age-related macular degeneration: a mini-review.
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| Marmorstein L.
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| Ophthalmic Genet 25(3):219-26. No abstract available. 2004
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| 14 | TIMP3, EFEMP1
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| Tissue inhibitor of metalloproteinases-3 (TIMP-3) is a binding partner of epithelial growth factor-containing fibulin-like extracellular matrix protein 1 (EFEMP1). Implications for macular degenerations.
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| Klenotic PA, Munier FL, Marmorstein LY, Anand-Apte B.
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| J Biol Chem 279(29):30469-73. Epub 2004 Apr 28. 2004
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| 15 | EFEMP1
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| Transcriptional regulation and expression of the dominant drusen gene FBLN3 (EFEMP1) in mammalian retina.
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| Blackburn J, Tarttelin EE, Gregory-Evans CY, Moosajee M, Gregory-Evans K.
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| Invest Ophthalmol Vis Sci 44(11):4613-21. 2003
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| 16 | EFEMP1, DHRD
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| Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration.
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| Marmorstein LY, Munier FL, Arsenijevic Y, Schorderet DF, McLaughlin PJ, Chung D, Traboulsi E, Marmorstein AD.
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| Proc Natl Acad Sci U S A 99(20):13067-72. Epub 2002 Sep 19. 2002
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| 17 | ABCA4, CORD23, EFEMP1, ELOVL4, PRPH2
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| Molecular genetics of age-related macular degeneration.
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| Stone EM, Sheffield VC, Hageman GS.
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| Hum Mol Genet 10(20):2285-92. 2001
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| 18 | DHRD, EFEMP1
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| A single EFEMP1 mutation associated with both Malattia Leventinese and Doyne honeycomb retinal dystrophy.
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| Stone EM, et al.
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| Nat Genet 22(2):199-202. 1999
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| 19 | EFEMP1
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| Structure and chromosomal assignment of the human S1-5 gene (FBNL) that is highly homologous to fibrillin.
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| Ikegawa S, et al.
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| Genomics 35 : 590-592. 1996
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