The DOI matches its Crossref record; 17 of the 17 references it cites were found in a registry or an index.
AGTR2 Mutations in X-Linked Mental Retardation
Abstract
Two angiotensin II (Ang II)–specific receptors, AGTR1 and AGTR2, are expressed in the mammalian brain. Ang II actions on blood pressure regulation, water electrolyte balance, and hormone secretion are primarily mediated by AGTR1. The function of AGTR2 remains unclear. Here, we show that expression of the AGTR2 gene was absent in a female patient with mental retardation (MR) who had a balanced X;7 chromosomal translocation. Additionally, 8 of 590 unrelated male patients with MR were found to have sequence changes in the AGTR2 gene, including one frameshift and three missense mutations. These findings indicate a role for AGTR2 in brain development and cognitive function.
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Cites
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Cited by
Hardoim, P. R., van Overbeek, L. S., Berg, G., Pirttilä, A. M., Compant, S., Campisano, A., Döring, M., & Sessitsch, A. (2015) · Microbiology and Molecular Biology Reviews · doi:10.1128/mmbr.00050-14 · Cited by 2,708
Muhle, R., Trentacoste, S. V., & Rapin, I. (2004) · Pediatrics · doi:10.1542/peds.113.5.e472 · Cited by 1,207
Gunatilaka, A. A. L. (2006) · Journal of Natural Products · doi:10.1021/np058128n · Cited by 1,032
Betancur, C. (2011) · Brain Research · doi:10.1016/j.brainres.2010.11.078 · Cited by 954
Induction of abiotic stress tolerance in plants by endophytic microbes
Lata, R., Chowdhury, S., Gond, S. K., & White, J. F. (2018) · Letters in Applied Microbiology · doi:10.1111/lam.12855 · Cited by 544
Metadata
- Authors
- Vervoort, V. S., Beachem, M. A., Edwards, P. S., Ladd, S., Miller, K. E., de Mollerat, X., Clarkson, K., DuPont, B., Schwartz, C. E., Stevenson, R. E., Boyd, E., & Srivastava, A. K.
- Venue
- Science
- Published
- 2002-06-28
- Volume
- 296
- Issue
- 5577
- Pages
- 2401-2403
- ISSN
- 0036-8075 (ISSN-L)
- 1095-9203
- OpenAlex
- W3205595473
- Cited by
- 721
- References
- 17
- FWCI
- 11.17
- Type
- journal article
- Language
- en
- Open access
- closed
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- Vervoort, V. S., Beachem, M. A., Edwards, P. S., Ladd, S., Miller, K. E., de Mollerat, X., Clarkson, K., DuPont, B., Schwartz, C. E., Stevenson, R. E., Boyd, E., & Srivastava, A. K. (2002). AGTR2 Mutations in X-Linked Mental Retardation. Science. https://doi.org/10.1126/science.1072191
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.
