Citations for
Disease mechanisms in late-onset retinal macular degeneration associated with mutation in C1QTNF5.
Shu X, Tulloch B, Lennon A, Vlachantoni D, Zhou X, Hayward C, Wright AF.
Hum Mol Genet 15(10):1680-9. Epub 2006 Apr 6. 2006
Late-onset macular degeneration and long anterior lens zonules result from a CTRP5 gene mutation.
Ayyagari R, Mandal MN, Karoukis AJ, Chen L, McLaren NC, Lichter M, Wong DT, Hitchcock PF, Caruso RC, Moroi SE, Maumenee IH, Sieving PA.
Invest Ophthalmol Vis Sci 46(9):3363-71. 2005
Mutation in a short-chain collagen gene, CTRP5, results in extracellular deposit formation in late-onset retinal degeneration: a genetic model for age-related macular degeneration.
Hayward C, Shu X, Cideciyan AV, Lennon A, Barran P, Zareparsi S, Sawyer L, Hendry G, Dhillon B, Milam AH, Luthert PJ, Swaroop A, Hastie ND, Jacobson SG, Wright AF.
Hum Mol Genet 12(20):2657-67. Epub 2003 Aug 27. 2003
Dominant late-onset retinal degeneration with regional variation of sub-retinal pigment epithelium deposits, retinal function, and photoreceptor degeneration.
Milam AH, Curcio CA, Cideciyan AV, Saxena S, John SK, Kruth HS, Malek G, Heckenlively JR, Weleber RG, Jacobson SG.
Ophthalmology 107(12):2256-66. 2000
Sub-retinal pigment epithelial deposits in a dominant late-onset retinal degeneration.
Kuntz CA, Jacobson SG, Cideciyan AV, Li ZY, Stone EM, Possin D, Milam AH.
Invest Ophthalmol Vis Sci 37(9):1772-82. 1996