The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features
Open accessAbstract
Diminished Sonic Hedgehog (Shh) signaling is associated with the most common forebrain defect in humans, holoprosencephaly (HPE), which includes cyclopia, a phenotype also seen in mice and other vertebrates with defective Shh signaling. The secreted protein Shh acts as a crucial factor that patterns the ventral forebrain and is required for the division of the primordial eye field and brain into two discrete halves. Gli2 is one of three vertebrate transcription factors implicated as obligatory mediators of Shh signal transduction. Here, we show that loss-of-function mutations in the human GLI2 gene are associated with a distinctive phenotype (within the HPE spectrum) whose primary features include defective anterior pituitary formation and pan-hypopituitarism, with or without overt forebrain cleavage abnormalities, and HPE-like midfacial hypoplasia. We also demonstrate that these mutations lack GLI2 activity. We report on a functional association between GLI2 and human disease and highlight the role of GLI2 in human head development.
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Sasaki, H., Nishizaki, Y., Hui, C.-C., Nakafuku, M., & Kondoh, H. (1999) · Development · doi:10.1242/dev.126.17.3915 · Cited by 715
Gli2, but not Gli1, is required for initial Shh signaling and ectopic activation of the Shh pathway
Bai, C. B., Auerbach, W., Lee, J. S., Stephen, D., & Joyner, A. L. (2002) · Development · doi:10.1242/dev.129.20.4753 · Cited by 692
Hedgehog–GLI signaling and the growth of the brain
Ruiz i Altaba, A., Palma, V., & Dahmane, N. (2002) · Nature Reviews Neuroscience · doi:10.1038/nrn704 · Cited by 376
Rallu, M., Machold, R., Gaiano, N., Corbin, J. G., McMahon, A. P., & Fishell, G. (2002) · Development · doi:10.1242/dev.129.21.4963 · Cited by 280
Cited by
Sox2 cooperates with Chd7 to regulate genes that are mutated in human syndromes
Engelen, E., Akinci, U., Bryne, J. C., Hou, J., Gontan, C., Moen, M., Szumska, D., Kockx, C., van IJcken, W., Dekkers, D. H. W., et al. (2011) · Nature Genetics · doi:10.1038/ng.825 · Cited by 255
Dubourg, C., Lazaro, L., Pasquier, L., Bendavid, C., Blayau, M., Duff, F. L., Durou, M.-R., Odent, S., & David, V. (2004) · Human Mutation · doi:10.1002/humu.20056 · Cited by 145
Pituitary transcription factors in the aetiology of combined pituitary hormone deficiency
Pfäffle, R., & Klammt, J. (2011) · Best Practice & Research Clinical Endocrinology & Metabolism · doi:10.1016/j.beem.2010.10.014 · Cited by 115
Miertus, J., Borozdin, W., Frecer, V., Tonini, G., Bertok, S., Amoroso, A., Miertus, S., & Kohlhase, J. (2006) · Human Genetics · doi:10.1007/s00439-005-0124-7 · Cited by 39
Gli2-regulated activation of hepatic stellate cells and liver fibrosis by TGF-β signaling
Yan, J., Hu, B., Shi, W., Wang, X., Shen, J., Chen, Y., Huang, H., & Jin, L. (2021) · American Journal of Physiology-Gastrointestinal and Liver Physiology · doi:10.1152/ajpgi.00310.2020 · Cited by 25
Metadata
- Authors
- Roessler, E., Du, Y.-Z., Mullor, J. L., Casas, E., Allen, W. P., Gillessen-Kaesbach, G., Roeder, E. R., Ming, J. E., Altaba, A. R. I., & Muenke, M.
- Venue
- Proceedings of the National Academy of Sciences
- Published
- 2003-10-27
- Volume
- 100
- Issue
- 23
- Pages
- 13424-13429
- ISSN
- 0027-8424 (ISSN-L)
- 1091-6490
- OpenAlex
- W1994452395
- Cited by
- 349
- References
- 4
- FWCI
- 5.58
- Type
- journal article
- Language
- en
- Open access
- green
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- CoChat. (2026). Citation check: Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. https://app.cochat.ai/papers/10.1073/pnas.2235734100
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- Roessler, E., Du, Y.-Z., Mullor, J. L., Casas, E., Allen, W. P., Gillessen-Kaesbach, G., Roeder, E. R., Ming, J. E., Altaba, A. R. I., & Muenke, M. (2003). Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features. Proceedings of the National Academy of Sciences. https://doi.org/10.1073/pnas.2235734100
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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.
