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10.1016/j.ajhg.2011.02.005 http://scihub22266oqcxt.onion/10.1016/j.ajhg.2011.02.005 21397062!3059432!21397062     free     free     free Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 235.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 269.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Am+J+Hum+Genet 2011 ; 88 (3): 333-43 Nephropedia Template TP {{tp|p=21397062|t=2011. CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia |pdf=|usr=}}{{21397062}} gab.com Text CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia JO: Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=21397062 #FOAvip Familial hypomagnesemia is a rare human disorder caused by renal or intestinal magnesium (Mg(2+)) wasting, which may lead to symptoms of Mg(2+) depletion such as tetany, seizures, and cardiac arrhythmias. Our knowledge of the physiology of Mg(2+) (re)absorption, particularly the luminal uptake of Mg(2+) along the nephron, has benefitted from positional cloning approaches in families with Mg(2+) reabsorption disorders; however, basolateral Mg(2+) transport and its regulation are still poorly understood. Here, by using a candidate screening approach, we identified CNNM2 as a gene involved in renal Mg(2+) handling in patients of two unrelated families with unexplained dominant hypomagnesemia. In the kidney, CNNM2 was predominantly found along the basolateral membrane of distal tubular segments involved in Mg(2+) reabsorption. The basolateral localization of endogenous and recombinant CNNM2 was confirmed in epithelial kidney cell lines. Electrophysiological analysis showed that CNNM2 mediated Mg(2+)-sensitive Na(+) currents that were significantly diminished in mutant protein and were blocked by increased extracellular Mg(2+) concentrations. Our data support the findings of a recent genome-wide association study showing the CNNM2 locus to be associated with serum Mg(2+) concentrations. The mutations found in CNNM2, its observed sensitivity to extracellular Mg(2+), and its basolateral localization signify a critical role for CNNM2 in epithelial Mg(2+) transport. Twit Text FOAVip CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia ????Am J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=21397062 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=21397062 #FOAvip English Wikipedia <ref>{{Cite pmid|21397062}}</ref> CNNM2, encoding a basolateral protein required for renal Mg2+ handling, is mutated in dominant hypomagnesemia #MMPMID21397062 Stuiver M; Lainez S; Will C; Terryn S; Gunzel D; Debaix H; Sommer K; Kopplin K; Thumfart J; Kampik NB; Querfeld U; Willnow TE; Nemec V; Wagner CA; Hoenderop JG; Devuyst O; Knoers NV; Bindels RJ; Meij IC; Muller D Am J Hum Genet 2011[Mar]; 88 (3): 333-43 PMID21397062show ga Familial hypomagnesemia is a rare human disorder caused by renal or intestinal magnesium (Mg(2+)) wasting, which may lead to symptoms of Mg(2+) depletion such as tetany, seizures, and cardiac arrhythmias. Our knowledge of the physiology of Mg(2+) (re)absorption, particularly the luminal uptake of Mg(2+) along the nephron, has benefitted from positional cloning approaches in families with Mg(2+) reabsorption disorders; however, basolateral Mg(2+) transport and its regulation are still poorly understood. Here, by using a candidate screening approach, we identified CNNM2 as a gene involved in renal Mg(2+) handling in patients of two unrelated families with unexplained dominant hypomagnesemia. In the kidney, CNNM2 was predominantly found along the basolateral membrane of distal tubular segments involved in Mg(2+) reabsorption. The basolateral localization of endogenous and recombinant CNNM2 was confirmed in epithelial kidney cell lines. Electrophysiological analysis showed that CNNM2 mediated Mg(2+)-sensitive Na(+) currents that were significantly diminished in mutant protein and were blocked by increased extracellular Mg(2+) concentrations. Our data support the findings of a recent genome-wide association study showing the CNNM2 locus to be associated with serum Mg(2+) concentrations. The mutations found in CNNM2, its observed sensitivity to extracellular Mg(2+), and its basolateral localization signify a critical role for CNNM2 in epithelial Mg(2+) transport. |Amino Acid Sequence[MESH] |Amino Acid Substitution/genetics[MESH] |Animals[MESH] |Base Sequence[MESH] |Cation Transport Proteins/chemistry/*genetics[MESH] |Cyclins/chemistry/*genetics[MESH] |Electrophysiological Phenomena/drug effects[MESH] |Female[MESH] |Genes, Dominant/*genetics[MESH] |HEK293 Cells[MESH] |Humans[MESH] |Immunohistochemistry[MESH] |Kidney/drug effects/*metabolism/pathology[MESH] |Magnesium Deficiency/*genetics/pathology[MESH] |Magnesium/*metabolism/pharmacology[MESH] |Male[MESH] |Mice[MESH] |Molecular Sequence Data[MESH] |Mutation/*genetics[MESH] |Nephrons/drug effects/metabolism/pathology[MESH] |Pedigree[MESH]CNNM2, encoding a basolateral protein required for renal Mg2+ handling(epmc).pdf DeepDyve Pubget Overpricing