The DOI matches its Crossref record; 35 of the 35 references it cites were found in a registry or an index.
Glypican-3–Deficient Mice Exhibit Developmental Overgrowth and Some of the Abnormalities Typical of Simpson-Golabi-Behmel Syndrome
Open accessAbstract
Glypicans are a family of heparan sulfate proteoglycans that are linked to the cell surface through a glycosyl–phosphatidylinositol anchor. One member of this family, glypican-3 (Gpc3), is mutated in patients with the Simpson-Golabi-Behmel syndrome (SGBS). These patients display pre- and postnatal overgrowth, and a varying range of dysmorphisms. The clinical features of SGBS are very similar to the more extensively studied Beckwith-Wiedemann syndrome (BWS). Since BWS has been associated with biallelic expression of insulin-like growth factor II (IGF-II), it has been proposed that GPC3 is a negative regulator of IGF-II. However, there is still no biochemical evidence indicating that GPC3 plays such a role. Here, we report that GPC3-deficient mice exhibit several of the clinical features observed in SGBS patients, including developmental overgrowth, perinatal death, cystic and dyplastic kidneys, and abnormal lung development. A proportion of the mutant mice also display mandibular hypoplasia and an imperforate vagina. In the particular case of the kidney, we demonstrate that there is an early and persistent developmental abnormality of the ureteric bud/collecting system due to increased proliferation of cells in this tissue element. The degree of developmental overgrowth of the GPC3-deficient mice is similar to that of mice deficient in IGF receptor type 2 (IGF2R), a well characterized negative regulator of IGF-II. Unlike the IGF2R-deficient mice, however, the levels of IGF-II in GPC3 knockouts are similar to those of the normal littermates.
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Cites
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Cited by
Heparan sulphate proteoglycans fine-tune mammalian physiology
Bishop, J. R., Schuksz, M., & Esko, J. D. (2007) · Nature · doi:10.1038/nature05817 · Cited by 1,631
Order Out of Chaos: Assembly of Ligand Binding Sites in Heparan Sulfate
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Liver Regeneration after Partial Hepatectomy
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Metadata
- Authors
- Cano-Gauci, D. F., Song, H. H., Yang, H., McKerlie, C., Choo, B., Shi, W., Pullano, R., Piscione, T. D., Grisaru, S., Soon, S., Sedlackova, L., Tanswell, A. K., Mak, T. W., Yeger, H., Lockwood, G. A., Rosenblum, N. D., & Filmus, J.
- Venue
- The Journal of Cell Biology
- Publisher
- Rockefeller University Press
- Published
- 1999-07-12
- Volume
- 146
- Issue
- 1
- Pages
- 255-264
- ISSN
- 0021-9525 (ISSN-L)
- 1540-8140
- OpenAlex
- W2159615789
- Cited by
- 331
- References
- 35
- FWCI
- 8.11
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Glypican-3–Deficient Mice Exhibit Developmental Overgrowth and Some of the Abnormalities Typical of Simpson-Golabi-Behmel Syndrome. https://app.cochat.ai/papers/10.1083/jcb.146.1.255
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- Cano-Gauci, D. F., Song, H. H., Yang, H., McKerlie, C., Choo, B., Shi, W., Pullano, R., Piscione, T. D., Grisaru, S., Soon, S., Sedlackova, L., Tanswell, A. K., Mak, T. W., Yeger, H., Lockwood, G. A., Rosenblum, N. D., & Filmus, J. (1999). Glypican-3–Deficient Mice Exhibit Developmental Overgrowth and Some of the Abnormalities Typical of Simpson-Golabi-Behmel Syndrome. The Journal of Cell Biology. https://doi.org/10.1083/jcb.146.1.255
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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