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10.1038/ejhg.2013.178 http://scihub22266oqcxt.onion/10.1038/ejhg.2013.178 C3953905!3953905!23942199     free     free     free Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 233.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Eur+J+Hum+Genet 2014 ; 22 (4): 497-504 Nephropedia Template TP {{tp|p=23942199|t=2014. New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia |pdf=|usr=}}{{23942199}} gab.com Text New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia JO: Eur J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=23942199 #FOAvip Despite recent progress in our understanding of renal magnesium (Mg2+) handling, the molecular mechanisms accounting for transepithelial Mg2+ transport are still poorly understood. Mutations in the TRPM6 gene, encoding the epithelial Mg2+ channel TRPM6 (transient receptor potential melastatin 6), have been proven to be the molecular cause of hypomagnesemia with secondary hypocalcemia (HSH; OMIM 602014). HSH manifests in the newborn period being characterized by very low serum Mg2+ levels (<0.4?mmol/l) accompanied by low serum calcium (Ca2+) concentrations. A proportion of previously described TRPM6 mutations lead to a truncated TRPM6 protein resulting in a complete loss-of-function of the ion channel. In addition, five-point mutations have been previously described. The aim of this study was to complement the current clinical picture by adding the molecular data from five new missense mutations found in five patients with HSH. To this end, patch-clamp analysis and cell surface measurements were performed to assess the effect of the various mutations on TRPM6 channel function. All mutant channels, expressed in HEK293 cells, showed loss-of-function, whereas no severe trafficking impairment to the plasma membrane surface was observed. We conclude that the new TRPM6 missense mutations lead to dysregulated intestinal/renal Mg2+ (re)absorption as a consequence of loss of TRPM6 channel function. Twit Text FOAVip New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia ????Eur J Hum Genet http://www.kidney.de/pget.php?&tw=1&pmid=23942199 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=23942199 #FOAvip English Wikipedia <ref>{{Cite pmid|23942199}}</ref> New TRPM6 missense mutations linked to hypomagnesemia with secondary hypocalcemia #MMPMID23942199 Lainez S; Schlingmann KP; van der Wijst J; Dworniczak B; van Zeeland F; Konrad M; Bindels RJ; Hoenderop JG Eur J Hum Genet 2014[Apr]; 22 (4): 497-504 PMID23942199show ga Despite recent progress in our understanding of renal magnesium (Mg2+) handling, the molecular mechanisms accounting for transepithelial Mg2+ transport are still poorly understood. Mutations in the TRPM6 gene, encoding the epithelial Mg2+ channel TRPM6 (transient receptor potential melastatin 6), have been proven to be the molecular cause of hypomagnesemia with secondary hypocalcemia (HSH; OMIM 602014). HSH manifests in the newborn period being characterized by very low serum Mg2+ levels (<0.4?mmol/l) accompanied by low serum calcium (Ca2+) concentrations. A proportion of previously described TRPM6 mutations lead to a truncated TRPM6 protein resulting in a complete loss-of-function of the ion channel. In addition, five-point mutations have been previously described. The aim of this study was to complement the current clinical picture by adding the molecular data from five new missense mutations found in five patients with HSH. To this end, patch-clamp analysis and cell surface measurements were performed to assess the effect of the various mutations on TRPM6 channel function. All mutant channels, expressed in HEK293 cells, showed loss-of-function, whereas no severe trafficking impairment to the plasma membrane surface was observed. We conclude that the new TRPM6 missense mutations lead to dysregulated intestinal/renal Mg2+ (re)absorption as a consequence of loss of TRPM6 channel function. äNew TRPM6 missense mutations linked to hypomagnesemia with secondary h(epmc).pdf DeepDyve Pubget Overpricing