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10.1172/JCI31680

http://scihub22266oqcxt.onion/10.1172/JCI31680
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C1934557!1934557!17671655
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suck abstract from ncbi


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pmid17671655      J+Clin+Invest 2007 ; 117 (8): 2260-7
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  • Impaired basolateral sorting of pro-EGF causes isolated recessive renal hypomagnesemia #MMPMID17671655
  • Groenestege WMT; Thébault S; van der Wijst J; van den Berg D; Janssen R; Tejpar S; van den Heuvel LP; van Cutsem E; Hoenderop JG; Knoers NV; Bindels RJ
  • J Clin Invest 2007[Aug]; 117 (8): 2260-7 PMID17671655show ga
  • Primary hypomagnesemia constitutes a rare heterogeneous group of disorders characterized by renal or intestinal magnesium (Mg2+) wasting resulting in generally shared symptoms of Mg2+ 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 Mg2+ 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 Mg2+ 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 Mg2+ channel TRPM6 (transient receptor potential cation channel, subfamily M, member 6) and thereby Mg2+ 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 Mg2+ balance.
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