The DOI matches its Crossref record; 2 of the 2 references it cites were found in a registry or an index.
The VACTERL association: lessons from the Sonic hedgehog pathway
Abstract
VACTERL represents a non‐random association of congenital anomalies in humans of poorly known etiology and pathogenesis. From our mutant analysis of Gli genes, which encode transcription factors mediating Sonic hedgehog (Shh) signal transduction, we observed that defective Shh signaling leads to a spectrum of developmental anomalies in mice strikingly similar to those of VACTERL. In this review, we will discuss the function of the three Gli transcription factors in Shh signaling and mammalian development. We propose that VACTERL could be caused by defective Shh signaling during human embryogenesis and suggest that the Gli mutant mice can serve as useful models for studying the pathogenesis of VACTERL.
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Cites
Wang, B., Fallon, J. F., & Beachy, P. A. (2000) · Cell · doi:10.1016/s0092-8674(00)80678-9 · Cited by 1,014
Sasaki, H., Nishizaki, Y., Hui, C.-C., Nakafuku, M., & Kondoh, H. (1999) · Development · doi:10.1242/dev.126.17.3915 · Cited by 715
Self-citation
Cited by
1 Developmental roles and clinical significance of Hedgehog signaling
McMahon, A. P., Ingham, P. W., & Tabin, C. J. (2003) · Current Topics in Developmental Biology · doi:10.1016/s0070-2153(03)53002-2 · Cited by 772
Hedgehog Signaling in Development and Homeostasis of the Gastrointestinal Tract
van den Brink, G. R. (2007) · Physiological Reviews · doi:10.1152/physrev.00054.2006 · Cited by 301
Edison, R. J., & Muenke, M. (2004) · American Journal of Medical Genetics Part A · doi:10.1002/ajmg.a.30386 · Cited by 206
Parrish, M., Ott, T., Lance-Jones, C., Schuetz, G., Schwaeger-Nickolenko, A., & Monaghan, A. P. (2004) · Molecular and Cellular Biology · doi:10.1128/mcb.24.16.7102-7112.2004 · Cited by 61
Metadata
- Authors
- Kim, J., Kim, P., & Hui, C.
- Venue
- Clinical Genetics
- Publisher
- Wiley
- Published
- 2001-05
- Volume
- 59
- Issue
- 5
- Pages
- 306-315
- ISSN
- 0009-9163 (ISSN-L)
- 1399-0004
- OpenAlex
- W2143431999
- Cited by
- 174
- References
- 2
- FWCI
- 4.23
- Type
- journal article
- Language
- en
- Open access
- closed
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- Kim, J., Kim, P., & Hui, C. (2001). The VACTERL association: lessons from the Sonic hedgehog pathway. Clinical Genetics. https://doi.org/10.1034/j.1399-0004.2001.590503.x
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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.
