The DOI matches its Crossref record; 1 of the 1 references it cites were found in a registry or an index.
Deletion of the Paired α5(IV) and α6(IV) Collagen Genes in Inherited Smooth Muscle Tumors
Abstract
The gene encoding α6(IV) collagen, COL4A6 , was identified on the human X chromosome in a head-to-head arrangement and within 452 base pairs of the α5(IV) collagen gene, COL4A5 . In earlier studies, intragenic deletions of COL4A5 were detected in a subset of patients with Alport syndrome (AS), a hereditary defect of basement membranes. In some families, AS cosegregates with diffuse leiomyomatosis (DL), a benign smooth muscle tumor diathesis. Here it is shown that patients with AS-DL harbor deletions that disrupt both COL4A5 and COL4A6 . Thus, type IV collagen may regulate smooth muscle differentiation and morphogenesis.
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Citations
Cites
Signal transduction from the extracellular matrix.
Juliano, R. L., & Haskill, S. (1993) · The Journal of cell biology · doi:10.1083/jcb.120.3.577 · Cited by 1,683
Cited by
Extracellular Matrix in the Tumor Microenvironment and Its Impact on Cancer Therapy
Henke, E., Nandigama, R., & Ergün, S. (2020) · Frontiers in Molecular Biosciences · doi:10.3389/fmolb.2019.00160 · Cited by 1,142
Alport's Syndrome, Goodpasture's Syndrome, and Type IV Collagen
Hudson, B. G., Tryggvason, K., Sundaramoorthy, M., & Neilson, E. G. (2003) · New England Journal of Medicine · doi:10.1056/nejmra022296 · Cited by 963
Self-citationKhoshnoodi, J., Pedchenko, V., & Hudson, B. G. (2008) · Microscopy Research and Technique · doi:10.1002/jemt.20564 · Cited by 668
Hudson, B. G., Reeders, S. T., & Tryggvason, K. (1993) · Journal of Biological Chemistry · doi:10.1016/s0021-9258(19)74270-7 · Cited by 623
Self-citationKuo, D. S., Labelle-Dumais, C., & Gould, D. B. (2012) · Human Molecular Genetics · doi:10.1093/hmg/dds346 · Cited by 320
Metadata
- Authors
- Zhou, J., Mochizuki, T., Smeets, H., Antignac, C., Laurila, P., de Paepe, A., Tryggvason, K., & Reeders, S. T.
- Venue
- Science
- Published
- 1993-08-27
- Volume
- 261
- Issue
- 5125
- Pages
- 1167-1169
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W2049702083
- Cited by
- 296
- References
- 1
- FWCI
- 17.80
- Type
- journal article
- Language
- en
- Open access
- closed
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- CoChat. (2026). Citation check: Deletion of the Paired α5(IV) and α6(IV) Collagen Genes in Inherited Smooth Muscle Tumors. https://app.cochat.ai/papers/10.1126/science.8356449
- The paper
- Zhou, J., Mochizuki, T., Smeets, H., Antignac, C., Laurila, P., de Paepe, A., Tryggvason, K., & Reeders, S. T. (1993). Deletion of the Paired α5(IV) and α6(IV) Collagen Genes in Inherited Smooth Muscle Tumors. Science. https://doi.org/10.1126/science.8356449
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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.
