The DOI matches its Crossref record; 18 of the 18 references it cites were found in a registry or an index.
Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia)
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Cites
Shapiro, M. B., & Senapathy, P. (1987) · Nucleic Acids Research · doi:10.1093/nar/15.17.7155 · Cited by 2,275
MATRIX PROTEOGLYCANS: From Molecular Design to Cellular Function
Iozzo, R. V. (1998) · Annual Review of Biochemistry · doi:10.1146/annurev.biochem.67.1.609 · Cited by 1,637
Isolation of a heparan sulfate-containing proteoglycan from basement membrane.
Hassell, J. R., Robey, P. G., Barrach, H. J., Wilczek, J., Rennard, S. I., & Martin, G. R. (1980) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.77.8.4494 · Cited by 674
Perlecan Maintains the Integrity of Cartilage and Some Basement Membranes
Costell, M., Gustafsson, E., Aszódi, A., Mörgelin, M., Bloch, W., Hunziker, E., Addicks, K., Timpl, R., & Fässler, R. (1999) · The Journal of Cell Biology · doi:10.1083/jcb.147.5.1109 · Cited by 672
Perlecan is essential for cartilage and cephalic development
Arikawa-Hirasawa, E., Watanabe, H., Takami, H., Hassell, J. R., & Yamada, Y. (1999) · Nature Genetics · doi:10.1038/15537 · Cited by 542
Murdoch, A. D., Dodge, G. R., Cohen, I., Tuan, R. S., & Iozzo, R. V. (1992) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(18)42478-7 · Cited by 315
Srinivasan, J., Schachner, M., & Catterall, W. A. (1998) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.95.26.15753 · Cited by 249
Kallunki, P., & Tryggvason, K. (1992) · The Journal of Cell Biology · doi:10.1083/jcb.116.2.559 · Cited by 240
Tenascin-R Is a Functional Modulator of Sodium Channel β Subunits
Xiao, Z.-C., Ragsdale, D. S., Malhotra, J. D., Mattei, L. N., Braun, P. E., Schachner, M., & Isom, L. L. (1999) · Journal of Biological Chemistry · doi:10.1074/jbc.274.37.26511 · Cited by 211
Acetylcholinesterase Clustering at the Neuromuscular Junction Involves Perlecan and Dystroglycan
Peng, H. B., Xie, H., Rossi, S. G., & Rotundo, R. L. (1999) · The Journal of Cell Biology · doi:10.1083/jcb.145.4.911 · Cited by 206
Cited by
Initial sequencing and analysis of the human genome
International Human Genome Sequencing Consortium, Whitehead Institute for Biomedical Research, C. F. G. R., Lander, E. S., Linton, L. M., Birren, B., Nusbaum, C., Zody, M. C., Baldwin, J., Devon, K., Dewar, K., et al. (2001) · Nature · doi:10.1038/35057062 · Cited by 24,216
Self-citationBasement membrane proteoglycans: from cellar to ceiling
Iozzo, R. V. (2005) · Nature Reviews Molecular Cell Biology · doi:10.1038/nrm1702 · Cited by 521
Developmental and Pathogenic Mechanisms of Basement Membrane Assembly
Yurchenco, P., & Patton, B. (2009) · Current Pharmaceutical Design · doi:10.2174/138161209787846766 · Cited by 342
The molecular actions of thyroid hormone in bone
Duncan Bassett, J. H., & Williams, G. R. (2003) · Trends in Endocrinology & Metabolism · doi:10.1016/s1043-2760(03)00144-9 · Cited by 261
Patterns of coding variation in the complete exomes of three Neandertals
Castellano, S., Parra, G., Sánchez-Quinto, F. A., Racimo, F., Kuhlwilm, M., Kircher, M., Sawyer, S., Fu, Q., Heinze, A., Nickel, B., et al. (2014) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.1405138111 · Cited by 247
Metadata
- Authors
- Nicole, S., Davoine, C.-S., Topaloglu, H., Cattolico, L., Barral, D., Beighton, P., Hamida, C. B., Hammouda, H., Cruaud, C., White, P. S., Samson, D., Urtizberea, J. A., Lehmann-Horn, F., Weissenbach, J., Hentati, F., & Fontaine, B.
- Venue
- Nature Genetics
- Published
- 2000-12
- Volume
- 26
- Issue
- 4
- Pages
- 480-483
- ISSN
- 1061-4036 (ISSN-L)
- 1546-1718
- OpenAlex
- W1545575244
- Cited by
- 296
- References
- 18
- FWCI
- 7.02
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia). https://app.cochat.ai/papers/10.1038/82638
- The paper
- Nicole, S., Davoine, C.-S., Topaloglu, H., Cattolico, L., Barral, D., Beighton, P., Hamida, C. B., Hammouda, H., Cruaud, C., White, P. S., Samson, D., Urtizberea, J. A., Lehmann-Horn, F., Weissenbach, J., Hentati, F., & Fontaine, B. (2000). Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia). Nature Genetics. https://doi.org/10.1038/82638
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.