The DOI matches its Crossref record; 4 of the 4 references it cites were found in a registry or an index.
Pallister-Hall syndrome phenotype in mice mutant for Gli3
Abstract
Mutations in the GLI3 gene have been identified in several human malformation syndromes. One of these autosomal dominant developmental disorders is Pallister-Hall syndrome (PHS; MIM146510), which is associated with central polydactyly and other malformations. Interestingly, the mutations in the GLI3 transcription factor gene identified in patients with PHS are restricted to the region 3' of the zinc finger-encoding domain, leaving this DNA-binding domain intact. We have investigated the consequences of this mutation on the development of multiple organ systems by introducing a targeted mutation in mice. We found that mice homozygous for the mutation showed a central polydactyly, thus modeling one of the major abnormalities of the human syndrome. Moreover, Gli3-mutant mice displayed a wide range of developmental abnormalities encompassing almost all of the common PHS features, including imperforate anus, gastrointestinal, epiglottis and larynx defects, abnormal kidney development, and absence of adrenal glands. Thus, our Gli3-mutant mice provide an excellent model for studies of both the pathogenesis of PHS and Gli3 functions in the development of the affected organ systems.
Overview
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Integrity signals
Registry
Cites
Statistics
Verification
Claims the paper makes
The claims and statistics of this paper haven’t been checked yet.
Run the check — free, no account needed. It reads the open-access text and checks the sources it cites.
Self-check
Percentages, sums and reported differences re-computed from the paper’s own numbers.
The self-check needs the paper’s full text.
Citations
Cites
Wang, B., Fallon, J. F., & Beachy, P. A. (2000) · Cell · doi:10.1016/s0092-8674(00)80678-9 · Cited by 1,014
Impaired Energy Homeostasis in C/EBPα Knockout Mice
Wang, N.-D., Finegold, M. J., Bradley, A., Ou, C. N., Abdelsayed, S. V., Wilde, M. D., Taylor, L. R., Wilson, D. R., & Darlington, G. J. (1995) · Science · doi:10.1126/science.7652557 · Cited by 929
Msx2 deficiency in mice causes pleiotropic defects in bone growth and ectodermal organ formation
Satokata, I., Ma, L., Ohshima, H., Bei, M., Woo, I., Nishizawa, K., Maeda, T., Takano, Y., Uchiyama, M., Heaney, S., et al. (2000) · Nature Genetics · doi:10.1038/74231 · Cited by 737
Manifestation of the limb prepattern: limb development in the absence of sonic hedgehog function.
Chiang, C., Litingtung, Y., Harris, M. P., Simandl, B. K., Li, Y., Beachy, P. A., & Fallon, J. F. (2001) · Developmental Biology · doi:10.1006/dbio.2001.0346 · Cited by 427
Cited by
Dorsal-ventral patterning of the spinal cord requires Gli3 transcriptional repressor activity
Persson, M., Stamataki, D., te Welscher, P., Andersson, E., Böse, J., Rüther, U., Ericson, J., & Briscoe, J. (2002) · Genes & Development · doi:10.1101/gad.243402 · Cited by 306
Johnston, J. J., Olivos-Glander, I., Killoran, C., Elson, E., Turner, J. T., Peters, K. F., Abbott, M. H., Aughton, D. J., Aylsworth, A. S., Bamshad, M. J., et al. (2005) · The American Journal of Human Genetics · doi:10.1086/429346 · Cited by 280
Kiefer, S. M. (2003) · Human Molecular Genetics · doi:10.1093/hmg/ddg233 · Cited by 124
The emergent design of the neural tube: prepattern, SHH morphogen and GLI code
Ruiz i Altaba, A., Nguyên, V., & Palma, V. (2003) · Current Opinion in Genetics & Development · doi:10.1016/j.gde.2003.08.005 · Cited by 118
The multifaceted roles of primary cilia in the development of the cerebral cortex
Hasenpusch-Theil, K., & Theil, T. (2021) · Frontiers in Cell and Developmental Biology · doi:10.3389/fcell.2021.630161 · Cited by 66
Metadata
- Authors
- Bose, J.
- Venue
- Human Molecular Genetics
- Publisher
- Oxford University Press (OUP)
- Published
- 2002-05-01
- Volume
- 11
- Issue
- 9
- Pages
- 1129-1135
- ISSN
- 0964-6906 (ISSN-L)
- 1460-2083
- OpenAlex
- W2117240631
- Cited by
- 189
- References
- 4
- FWCI
- 4.50
- Type
- journal article
- Language
- en
- Open access
- closed
About these checks
Registry, retraction, Cites and statistics results are computed, not judged, with one exception: a printed reference that no index lists is read once by a model before it counts as a citation error. Claims are extracted by a model and kept only when their quote appears verbatim in the text; each cited source is then checked, with a model’s help, for whether it says what the claim relies on. Those verdicts can be wrong — read the claim’s quote and the cited source before relying on one.
Statistics and arithmetic are recomputed, not judged.
Confidence bands are shown only for fields calibrated on our annotated test set. None is calibrated yet, so no band is shown.
What counts as a claim ›How we measure confidence ›How we check this ›
Are you an author, or do you see a problem with this page? Request a review
How to cite
Cite CoChat for the checks on this page, and the paper for its own findings.
- This page
- CoChat. (2026). Citation check: Pallister-Hall syndrome phenotype in mice mutant for Gli3. https://app.cochat.ai/papers/10.1093/hmg/11.9.1129
- The paper
- Bose, J. (2002). Pallister-Hall syndrome phenotype in mice mutant for Gli3. Human Molecular Genetics. https://doi.org/10.1093/hmg/11.9.1129
Data sources
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.
