The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
Collagen XII: Protecting bone and muscle integrity by organizing collagen fibrils
Open accessAbstract
Collagen XII, largest member of the fibril-associated collagens with interrupted triple helix (FACIT) family, assembles from three identical α-chains encoded by the COL12A1 gene. The molecule consists of three threadlike N-terminal noncollagenous NC3 domains, joined by disulfide bonds and a short interrupted collagen triple helix towards the C-terminus. Splice variants differ considerably in size and properties: "small" collagen XIIB (220 kDa subunit) is similar to collagen XIV, whereas collagen XIIA (350 kDa) has a much larger NC3 domain carrying glycosaminoglycan chains. Collagen XII binds to collagen I-containing fibrils via its collagenous domain, whereas its large noncollagenous arms interact with other matrix proteins such as tenascin-X. In dense connective tissues and bone, collagen XII is thought to regulate organization and mechanical properties of collagen fibril bundles. Accordingly, recent findings show that collagen XII mutations cause Ehlers-Danlos/myopathy overlap syndrome associated with skeletal abnormalities and muscle weakness in mice and humans.
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Zou, Y., Zwolanek, D., Izu, Y., Gandhy, S., Schreiber, G., Brockmann, K., Devoto, M., Tian, Z., Hu, Y., Veit, G., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddt627 · Cited by 143
Self-citationMutations in the collagen XII gene define a new form of extracellular matrix-related myopathy
Hicks, D., Farsani, G. T., Laval, S., Collins, J., Sarkozy, A., Martoni, E., Shah, A., Zou, Y., Koch, M., Bonnemann, C. G., et al. (2014) · Human Molecular Genetics · doi:10.1093/hmg/ddt637 · Cited by 111
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Cited by
Csapo, R., Gumpenberger, M., & Wessner, B. (2020) · Frontiers in Physiology · doi:10.3389/fphys.2020.00253 · Cited by 429
Matrix molecules and skin biology
Nyström, A., & Bruckner-Tuderman, L. (2019) · Seminars in Cell & Developmental Biology · doi:10.1016/j.semcdb.2018.07.025 · Cited by 144
Tenascin-X: beyond the architectural function
Valcourt, U., Alcaraz, L. B., Exposito, J.-Y., Lethias, C., & Bartholin, L. (2015) · Cell Adhesion & Migration · doi:10.4161/19336918.2014.994893 · Cited by 132
Mackey, A. L., Rasmussen, L. K., Kadi, F., Schjerling, P., Helmark, I. C., Ponsot, E., Aagaard, P., Durigan, J. L. Q., & Kjaer, M. (2016) · The FASEB Journal · doi:10.1096/fj.201500198r · Cited by 99
Punetha, J., Kesari, A., Hoffman, E. P., Gos, M., Kamińska, A., Kostera‐Pruszczyk, A., Hausmanowa‐Petrusewicz, I., Hu, Y., Zou, Y., Bönnemann, C. G., et al. (2017) · Muscle & Nerve · doi:10.1002/mus.25232 · Cited by 39
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Metadata
- Authors
- Chiquet, M., Birk, D. E., Bönnemann, C. G., & Koch, M.
- Venue
- The International Journal of Biochemistry & Cell Biology
- Publisher
- Elsevier BV
- Published
- 2014-08
- Volume
- 53
- Pages
- 51-54
- ISSN
- 1357-2725 (ISSN-L)
- OpenAlex
- W2073244038
- Cited by
- 169
- References
- 2
- FWCI
- 5.94
- Type
- journal article
- Language
- en
- Open access
- green
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- Chiquet, M., Birk, D. E., Bönnemann, C. G., & Koch, M. (2014). Collagen XII: Protecting bone and muscle integrity by organizing collagen fibrils. The International Journal of Biochemistry & Cell Biology. https://doi.org/10.1016/j.biocel.2014.04.020
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