The DOI matches its Crossref record; 3 of the 3 references it cites were found in a registry or an index.
Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice
Open accessAbstract
Familial macular degeneration is a clinically and genetically heterogeneous group of disorders characterized by progressive central vision loss. Here we show that an R373C missense mutation in the prominin 1 gene (PROM1) causes 3 forms of autosomal-dominant macular degeneration. In transgenic mice expressing R373C mutant human PROM1, both mutant and endogenous PROM1 were found throughout the layers of the photoreceptors, rather than at the base of the photoreceptor outer segments, where PROM1 is normally localized. Moreover, the outer segment disk membranes were greatly overgrown and misoriented, indicating defective disk morphogenesis. Immunoprecipitation studies showed that PROM1 interacted with protocadherin 21 (PCDH21), a photoreceptor-specific cadherin, and with actin filaments, both of which play critical roles in disk membrane morphogenesis. Collectively, our results identify what we believe to be a novel complex involved in photoreceptor disk morphogenesis and indicate a possible role for PROM1 and PCDH21 in macular degeneration.
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Cites
The renewal of photoreceptor cell outer segments
Young, R. W. (1967) · The Journal of Cell Biology · doi:10.1083/jcb.33.1.61 · Cited by 1,184
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Self-citationKaran, G., Lillo, C., Yang, Z., Cameron, D. J., Locke, K. G., Zhao, Y., Thirumalaichary, S., Li, C., Birch, D. G., Vollmer-Snarr, H. R., et al. (2005) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.0407698102 · Cited by 182
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Non-syndromic retinitis pigmentosa
Verbakel, S. K., van Huet, R. A. C., Boon, C. J. F., den Hollander, A. I., Collin, R. W. J., Klaver, C. C. W., Hoyng, C. B., Roepman, R., & Klevering, B. J. (2018) · Progress in Retinal and Eye Research · doi:10.1016/j.preteyeres.2018.03.005 · Cited by 973
Sakami, S., Maeda, T., Bereta, G., Okano, K., Golczak, M., Sumaroka, A., Roman, A. J., Cideciyan, A. V., Jacobson, S. G., & Palczewski, K. (2011) · Journal of Biological Chemistry · doi:10.1074/jbc.m110.209759 · Cited by 291
Stem cells in retinal regeneration: past, present and future
Ramsden, C. M., Powner, M. B., Carr, A.-J. F., Smart, M. J. K., da Cruz, L., & Coffey, P. J. (2013) · Development · doi:10.1242/dev.092270 · Cited by 253
Molday, R. S., & Moritz, O. L. (2015) · Journal of Cell Science · doi:10.1242/jcs.175687 · Cited by 235
Photoreceptor Cilia and Retinal Ciliopathies
Bujakowska, K. M., Liu, Q., & Pierce, E. A. (2017) · Cold Spring Harbor Perspectives in Biology · doi:10.1101/cshperspect.a028274 · Cited by 194
Metadata
- Authors
- Yang, Z., Chen, Y., Lillo, C., Chien, J., Yu, Z., Michaelides, M., Klein, M., Howes, K. A., Li, Y., Kaminoh, Y., Chen, H., Zhao, C., Chen, Y., Al-Sheikh, Y. T., Karan, G., Corbeil, D., Escher, P., Kamaya, S., Li, C., Johnson, S., Frederick, J. M., Zhao, Y., Wang, C., Cameron, D. J., Huttner, W. B., Schorderet, D. F., Munier, F. L., Moore, A. T., Birch, D. G., Baehr, W., Hunt, D. M., Williams, D. S., & Zhang, K.
- Venue
- Journal of Clinical Investigation
- Published
- 2008-07-01
- Volume
- 118
- Issue
- 8
- Pages
- 2908-16
- ISSN
- 0021-9738 (ISSN-L)
- OpenAlex
- W2119374840
- Cited by
- 268
- References
- 3
- FWCI
- 5.09
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. https://app.cochat.ai/papers/10.1172/jci35891
- The paper
- Yang, Z., Chen, Y., Lillo, C., Chien, J., Yu, Z., Michaelides, M., Klein, M., Howes, K. A., Li, Y., Kaminoh, Y., Chen, H., Zhao, C., Chen, Y., Al-Sheikh, Y. T., Karan, G., Corbeil, D., Escher, P., Kamaya, S., Li, C., . . . Zhang, K. (2008). Mutant prominin 1 found in patients with macular degeneration disrupts photoreceptor disk morphogenesis in mice. Journal of Clinical Investigation. https://doi.org/10.1172/jci35891
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
