The DOI matches its Crossref record; 7 of the 7 references it cites were found in a registry or an index.
Mutant Neurogenin-3 in Congenital Malabsorptive Diarrhea
Open accessAbstract
BACKGROUND: Neurogenin-3 (NEUROG3) is expressed in endocrine progenitor cells and is required for endocrine-cell development in the pancreas and intestine. The NEUROG3 gene (NEUROG3) is therefore a candidate for the cause of a newly discovered autosomal recessive disorder characterized by generalized malabsorption and a paucity of enteroendocrine cells. METHODS: We screened genomic DNA from three unrelated patients with sparse enteroendocrine cells for mutations of NEUROG3. We then tested the ability of the observed mutations to alter NEUROG3 function, using in vitro and in vivo assays. RESULTS: The patients had few intestinal enteroendocrine cells positive for chromogranin A, but they had normal numbers of Paneth's, goblet, and absorptive cells. We identified two homozygous mutations in NEUROG3, both of which rendered the NEUROG3 protein unable to activate NEUROD1, a downstream target of NEUROG3, and compromised the ability of NEUROG3 to bind to an E-box element in the NEUROD1 promoter. The injection of wild-type but not mutant NEUROG3 messenger RNA into xenopus embryos induced NEUROD1 expression. CONCLUSIONS: A newly discovered disorder characterized by malabsorptive diarrhea and a lack of intestinal enteroendocrine cells is caused by loss-of-function mutations in NEUROG3.
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Cites
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Cited by
Directed differentiation of human pluripotent stem cells into intestinal tissue in vitro
Spence, J. R., Mayhew, C. N., Rankin, S. A., Kuhar, M. F., Vallance, J. E., Tolle, K., Hoskins, E. E., Kalinichenko, V. V., Wells, S. I., Zorn, A. M., et al. (2011) · Nature · doi:10.1038/nature09691 · Cited by 1,922
Biology of Human Sodium Glucose Transporters
Wright, E. M., Loo, D. D. F., & Hirayama, B. A. (2011) · Physiological Reviews · doi:10.1152/physrev.00055.2009 · Cited by 1,430
Sustained in vitro intestinal epithelial culture within a Wnt-dependent stem cell niche
Ootani, A., Li, X., Sangiorgi, E., Ho, Q. T., Ueno, H., Toda, S., Sugihara, H., Fujimoto, K., Weissman, I. L., Capecchi, M. R., et al. (2009) · Nature Medicine · doi:10.1038/nm.1951 · Cited by 906
Enteroendocrine Cells: Chemosensors in the Intestinal Epithelium
Gribble, F. M., & Reimann, F. (2016) · Annual Review of Physiology · doi:10.1146/annurev-physiol-021115-105439 · Cited by 683
Glucose transporters in the small intestine in health and disease
Koepsell, H. (2020) · Pflügers Archiv - European Journal of Physiology · doi:10.1007/s00424-020-02439-5 · Cited by 290
Metadata
- Authors
- Wang, J., Cortina, G., Wu, S. V., Tran, R., Cho, J.-H., Tsai, M.-J., Bailey, T. J., Jamrich, M., Ament, M. E., Treem, W. R., Hill, I. D., Vargas, J. H., Gershman, G., Farmer, D. G., Reyen, L., & Martín, M. G.
- Venue
- New England Journal of Medicine
- Publisher
- Massachusetts Medical Society
- Published
- 2006-07-20
- Volume
- 355
- Issue
- 3
- Pages
- 270-280
- ISSN
- 0028-4793 (ISSN-L)
- 1533-4406
- OpenAlex
- W2002907969
- Cited by
- 320
- References
- 7
- FWCI
- 12.16
- Type
- journal article
- Language
- en
- Open access
- bronze
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- CoChat. (2026). Citation check: Mutant Neurogenin-3 in Congenital Malabsorptive Diarrhea. https://app.cochat.ai/papers/10.1056/nejmoa054288
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- Wang, J., Cortina, G., Wu, S. V., Tran, R., Cho, J.-H., Tsai, M.-J., Bailey, T. J., Jamrich, M., Ament, M. E., Treem, W. R., Hill, I. D., Vargas, J. H., Gershman, G., Farmer, D. G., Reyen, L., & Martín, M. G. (2006). Mutant Neurogenin-3 in Congenital Malabsorptive Diarrhea. New England Journal of Medicine. https://doi.org/10.1056/nejmoa054288
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Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
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