DOI: 10.1093/hmg/ddg289. 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

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

10.1093/hmg/ddg289

Crossref journal-article

Oxford University Press (OUP)

Human Molecular Genetics (286)

Bibliography

Hayward, C., Shu, X., Cideciyan, A. V., Lennon, A., Barran, P., Zareparsi, S., Sawyer, L., Hendry, G., Dhillon, B., Milam, A. H., Luthert, P. J., Swaroop, A., Hastie, N. D., Jacobson, S. G., & Wright, A. F. (2003). 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. Human Molecular Genetics, 12(20), 2657â2667.

Authors 15

Caroline Hayward (first)
Xinhua Shu (additional)
Artur V. Cideciyan (additional)
Alan Lennon (additional)
Perdita Barran (additional)
Sepideh Zareparsi (additional)
Lindsay Sawyer (additional)
Grace Hendry (additional)
Baljean Dhillon (additional)
Ann H. Milam (additional)
Philip J. Luthert (additional)
Anand Swaroop (additional)
Nicholas D. Hastie (additional)
Samuel G. Jacobson (additional)
Alan F. Wright (additional)

References 32 Referenced 162

Dates

Type	When
Created	21 years, 11 months ago (Oct. 2, 2003, 8:28 a.m.)
Deposited	8 years ago (Aug. 24, 2017, 2:43 a.m.)
Indexed	1 day, 16 hours ago (Sept. 3, 2025, 6:36 a.m.)
Issued	21 years, 10 months ago (Oct. 15, 2003)
Published	21 years, 10 months ago (Oct. 15, 2003)
Published Online	21 years, 10 months ago (Oct. 15, 2003)
Published Print	21 years, 10 months ago (Oct. 15, 2003)

Funders 0

None

BibTeX

@article{Hayward_2003, title={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}, volume={12}, ISSN={0964-6906}, url={http://dx.doi.org/10.1093/hmg/ddg289}, DOI={10.1093/hmg/ddg289}, number={20}, journal={Human Molecular Genetics}, publisher={Oxford University Press (OUP)}, author={Hayward, Caroline and Shu, Xinhua and Cideciyan, Artur V. and Lennon, Alan and Barran, Perdita and Zareparsi, Sepideh and Sawyer, Lindsay and Hendry, Grace and Dhillon, Baljean and Milam, Ann H. and Luthert, Philip J. and Swaroop, Anand and Hastie, Nicholas D. and Jacobson, Samuel G. and Wright, Alan F.}, year={2003}, month=oct, pages={2657–2667} }

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      "unstructured": "Kuntz, C.A., Jacobson, S.G., Cideciyan, A.V., Li, Z.Y., Stone, E.M., Possin, D. and Milam, A.H. ( 1996 ) Sub-retinal pigment epithelial deposits in a dominant late-onset retinal degeneration. Invest. Ophthal. Visual Sci. , 37 , 1772 \u20131782."
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      "DOI": "10.1016/S0161-6420(00)00419-X"
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      "unstructured": "Jacobson, S.G., Cideciyan, A.V., Wright, E. and Wright, A.F. ( 2001 ) Phenotypic marker for early disease detection in dominant late-onset retinal degeneration. Invest. Ophthal. Visual Sci. , 42 , 1882 \u20131890."
    },
    {
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      "unstructured": "Duvall, J., McKechnie, N.M., Lee, W.R., Rothery, S. and Marshall, J. ( 1986 ) Extensive subretinal pigment epithelial deposit in two brothers suffering from dominant retinitis pigmentosa. A histopathological study. Graefes Arch. Clin. Exp. Ophthal. , 224 , 299 \u2013309.",
      "DOI": "10.1007/BF02143075"
    },
    {
      "key": "key\n\t\t\t\t20170522172954_DDG289C5",
      "doi-asserted-by": "crossref",
      "unstructured": "Brosnahan, D.M., Kennedy, S.M., Converse, C.A., Lee, W.R. and Hammer, H.M. ( 1994 ) Pathology of hereditary retinal degeneration associated with hypobetalipoproteinemia. Ophthalmology , 101 , 38 \u201345.",
      "DOI": "10.1016/S0161-6420(94)31358-3"
    },
    {
      "key": "key\n\t\t\t\t20170522172954_DDG289C6",
      "doi-asserted-by": "crossref",
      "unstructured": "Green, W.R. and Enger, C. ( 1993 ) Age-related macular degeneration histopathologic studies: the 1992 Lorenz E. Zimmerman Lecture. Ophthalmology , 100 , 1519 \u20131535.",
      "DOI": "10.1016/S0161-6420(93)31466-1"
    },
    {
      "key": "key\n\t\t\t\t20170522172954_DDG289C7",
      "unstructured": "Seddon, J.M. ( 2001 ) Age-related macular degeneration. In Ryan, S.J. (ed.), Retina (3rd edn), Mosby, St Louis, MO, pp. 1039 \u20131050."
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      "DOI": "10.1073/pnas.222551899"
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      "unstructured": "Kwan, A.P., Cummings, C.E., Chapman, J.A. and Grant, M.E. ( 1991 ) Macromolecular organization of chicken type X collagen in vitro.J. Cell Biol. , 114 , 597 \u2013604.",
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      "unstructured": "Wright, A., Charlesworth, B., Rudan, I., Carothers, A. and Campbell, H. ( 2003 ) A polygenic basis for late-onset disease. Trends Genet. , 19 , 97 \u2013106.",
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