The DOI matches its Crossref record; 32 of the 32 references it cites were found in a registry or an index.
Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia
Open accessAbstract
Primary hypomagnesemia constitutes a rare heterogeneous group of disorders characterized by renal or intestinal magnesium (Mg(2+)) wasting resulting in generally shared symptoms of Mg(2+) depletion, such as tetany and generalized convulsions, and often including associated disturbances in calcium excretion. However, most of the genes involved in the physiology of Mg(2+) handling are unknown. Through the discovery of a mutation in the EGF gene in isolated autosomal recessive renal hypomagnesemia, we have, for what we believe is the first time, identified a magnesiotropic hormone crucial for total body Mg(2+) balance. The mutation leads to impaired basolateral sorting of pro-EGF. As a consequence, the renal EGFR is inadequately stimulated, resulting in insufficient activation of the epithelial Mg(2+) channel TRPM6 (transient receptor potential cation channel, subfamily M, member 6) and thereby Mg(2+) loss. Furthermore, we show that colorectal cancer patients treated with cetuximab, an antagonist of the EGFR, develop hypomagnesemia, emphasizing the significance of EGF in maintaining Mg(2+) balance.
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TRPM6 Forms the Mg2+ Influx Channel Involved in Intestinal and Renal Mg2+ Absorption
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Self-citationMutation of TRPM6 causes familial hypomagnesemia with secondary hypocalcemia
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Magnesium in man: implications for health and disease
de Baaij, J. H. F., Hoenderop, J. G. J., & Bindels, R. J. M. (2015) · Physiological Reviews · doi:10.1152/physrev.00012.2014 · Cited by 1,726
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Hormones and Disorders of Mineral Metabolism
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Metadata
- Authors
- Groenestege, W. M. T., Thébault, S., van der Wijst, J., van den Berg, D., Janssen, R., Tejpar, S., van den Heuvel, L. P., van Cutsem, E., Hoenderop, J. G., Knoers, N. V., & Bindels, R. J.
- Venue
- Journal of Clinical Investigation
- Published
- 2007-08-01
- Volume
- 117
- Issue
- 8
- Pages
- 2260-2267
- ISSN
- 0021-9738 (ISSN-L)
- OpenAlex
- W2117993382
- Cited by
- 357
- References
- 32
- FWCI
- 22.86
- Type
- journal article
- Language
- en
- Open access
- bronze
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- Groenestege, W. M. T., Thébault, S., van der Wijst, J., van den Berg, D., Janssen, R., Tejpar, S., van den Heuvel, L. P., van Cutsem, E., Hoenderop, J. G., Knoers, N. V., & Bindels, R. J. (2007). Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia. Journal of Clinical Investigation. https://doi.org/10.1172/jci31680
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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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