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10.1093/hmg/ddz198 http://scihub22266oqcxt.onion/10.1093/hmg/ddz198 31423533!7372550!31423533     free     free     free Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 211.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534       Hum+Mol+Genet 2020 ; 29 (11): 1797-1807 Nephropedia Template TP {{tp|p=31423533|t=2020. Genetic variants in TRPM7 associated with unexplained stillbirth modify ion channel function |pdf=|usr=}}{{31423533}} gab.com Text Genetic variants in TRPM7 associated with unexplained stillbirth modify ion channel function JO: Hum Mol Genet http://www.kidney.de/pget.php?&tw=1&pmid=31423533 #FOAvip Stillbirth is the loss of a fetus after 22 weeks of gestation, of which almost half go completely unexplained despite post-mortem. We recently sequenced 35 arrhythmia-associated genes from 70 unexplained stillbirth cases. Our hypothesis was that deleterious mutations in channelopathy genes may have a functional effect in utero that may be pro-arrhythmic in the developing fetus. We observed four heterozygous, nonsynonymous variants in transient receptor potential melastatin 7 (TRPM7), a ubiquitously expressed ion channel known to regulate cardiac development and repolarization in mice. We used site-directed mutagenesis and single-cell patch-clamp to analyze the functional effect of the four stillbirth mutants on TRPM7 ion channel function in heterologous cells. We also used cardiomyocytes derived from human pluripotent stem cells to model the contribution of TRPM7 to action potential morphology. Our results show that two TRPM7 variants, p.G179V and p.T860M, lead to a marked reduction in ion channel conductance. This observation was underpinned by a lack of measurable TRPM7 protein expression, which in the case of p.T860M was due to rapid proteasomal degradation. We also report that human hiPSC-derived cardiomyocytes possess measurable TRPM7 currents; however, siRNA knockdown did not directly affect action potential morphology. TRPM7 variants found in the unexplained stillbirth population adversely affect ion channel function and this may precipitate fatal arrhythmia in utero. Twit Text FOAVip Genetic variants in TRPM7 associated with unexplained stillbirth modify ion channel function ????Hum Mol Genet http://www.kidney.de/pget.php?&tw=1&pmid=31423533 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=31423533 #FOAvip English Wikipedia <ref>{{Cite pmid|31423533}}</ref> Genetic variants in TRPM7 associated with unexplained stillbirth modify ion channel function #MMPMID31423533 Cartwright JH; Aziz Q; Harmer SC; Thayyil S; Tinker A; Munroe PB Hum Mol Genet 2020[Jul]; 29 (11): 1797-1807 PMID31423533show ga Stillbirth is the loss of a fetus after 22 weeks of gestation, of which almost half go completely unexplained despite post-mortem. We recently sequenced 35 arrhythmia-associated genes from 70 unexplained stillbirth cases. Our hypothesis was that deleterious mutations in channelopathy genes may have a functional effect in utero that may be pro-arrhythmic in the developing fetus. We observed four heterozygous, nonsynonymous variants in transient receptor potential melastatin 7 (TRPM7), a ubiquitously expressed ion channel known to regulate cardiac development and repolarization in mice. We used site-directed mutagenesis and single-cell patch-clamp to analyze the functional effect of the four stillbirth mutants on TRPM7 ion channel function in heterologous cells. We also used cardiomyocytes derived from human pluripotent stem cells to model the contribution of TRPM7 to action potential morphology. Our results show that two TRPM7 variants, p.G179V and p.T860M, lead to a marked reduction in ion channel conductance. This observation was underpinned by a lack of measurable TRPM7 protein expression, which in the case of p.T860M was due to rapid proteasomal degradation. We also report that human hiPSC-derived cardiomyocytes possess measurable TRPM7 currents; however, siRNA knockdown did not directly affect action potential morphology. TRPM7 variants found in the unexplained stillbirth population adversely affect ion channel function and this may precipitate fatal arrhythmia in utero. |*Genetic Predisposition to Disease[MESH] |Aborted Fetus/physiopathology[MESH] |Animals[MESH] |Arrhythmias, Cardiac/*genetics/pathology[MESH] |Cell Differentiation/genetics[MESH] |Gene Expression Regulation, Developmental/genetics[MESH] |Heart/growth & development/physiopathology[MESH] |Humans[MESH] |Induced Pluripotent Stem Cells/metabolism/pathology[MESH] |Ion Channels/genetics[MESH] |Mice[MESH] |Mutation/genetics[MESH] |Myocytes, Cardiac/metabolism/pathology[MESH] |Protein Serine-Threonine Kinases/*genetics[MESH] |Stillbirth/*genetics[MESH]Genetic variants in TRPM7 associated with unexplained stillbirth modif(epmc).pdf DeepDyve Pubget Overpricing