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10.1161/JAHA.117.006428 http://scihub22266oqcxt.onion/10.1161/JAHA.117.006428 C5850229!5850229 !29431102     free     free     free Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 231.6 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 265.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 265.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 265.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 265.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 265.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 265.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 265.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 265.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 265.2 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 298.79999999999995 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 298.79999999999995 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Deprecated: Implicit conversion from float 298.79999999999995 to int loses precision in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 534 Warning: imagejpeg(C:\Inetpub\vhosts\kidney.de\httpdocs\phplern\29431102 .jpg): Failed to open stream: No such file or directory in C:\Inetpub\vhosts\kidney.de\httpdocs\pget.php on line 117       J+Am+Heart+Assoc 2018 ; 7 (3 ): ä Nephropedia Template TP {{tp|p=29431102 |t=2018. Pediatric Dilated Cardiomyopathy-Associated LRRC10 (Leucine-Rich Repeat-Containing 10) Variant Reveals LRRC10 as an Auxiliary Subunit of Cardiac L-Type Ca(2+) Channels |pdf=|usr=}}{{29431102 }} gab.com Text Pediatric Dilated Cardiomyopathy-Associated LRRC10 (Leucine-Rich Repeat-Containing 10) Variant Reveals LRRC10 as an Auxiliary Subunit of Cardiac L-Type Ca(2+) Channels JO: J Am Heart Assoc http://www.kidney.de/pget.php?&tw=1&pmid=29431102 #FOAvip BACKGROUND: Genetic causes of dilated cardiomyopathy (DCM) are incompletely understood. LRRC10 (leucine-rich repeat-containing 10) is a cardiac-specific protein of unknown function. Heterozygous mutations in LRRC10 have been suggested to cause DCM, and deletion of Lrrc10 in mice results in DCM. METHODS AND RESULTS: Whole-exome sequencing was carried out on a patient who presented at 6 weeks of age with DCM and her unaffected parents, filtering for rare, deleterious, recessive, and de novo variants. Whole-exome sequencing followed by trio-based filtering identified a homozygous recessive variant in LRRC10, I195T. Coexpression of I195T LRRC10 with the L-type Ca(2+) channel (Ca(v)1.2, ?(2CN2), and ?(2)? subunits) in HEK293 cells resulted in a significant ?0.5-fold decrease in I(Ca,L) at 0 mV, in contrast to the ?1.4-fold increase in I(Ca,L) by coexpression of LRRC10 (n=9-12, P<0.05). Coexpression of LRRC10 or I195T LRRC10 did not alter the surface membrane expression of Ca(v)1.2. LRRC10 coexpression with Ca(v)1.2 in the absence of auxiliary ?(2CN2) and ?(2)? subunits revealed coassociation of Ca(v)1.2 and LRRC10 and a hyperpolarizing shift in the voltage dependence of activation (n=6-9, P<0.05). Ventricular myocytes from Lrrc10(-/-) mice had significantly smaller I(Ca,L), and coimmunoprecipitation experiments confirmed association between LRRC10 and the Ca(v)1.2 subunit in mouse hearts. CONCLUSIONS: Examination of a patient with DCM revealed homozygosity for a previously unreported LRRC10 variant: I195T. Wild-type and I195T LRRC10 function as cardiac-specific subunits of L-type Ca(2+) channels and exert dramatically different effects on channel gating, providing a potential link to DCM. Twit Text FOAVip Pediatric Dilated Cardiomyopathy-Associated LRRC10 (Leucine-Rich Repeat-Containing 10) Variant Reveals LRRC10 as an Auxiliary Subunit of Cardiac L-Type Ca(2+) Channels ????J Am Heart Assoc http://www.kidney.de/pget.php?&tw=1&pmid=29431102 #FOAvip Twit Text # Free Paper on # # # # # LINK http://www.kidney.de/pget.php?&tw=1&pmid=29431102 #FOAvip English Wikipedia <ref>{{Cite pmid|29431102 }}</ref> Pediatric Dilated Cardiomyopathy-Associated LRRC10 (Leucine-Rich Repeat-Containing 10) Variant Reveals LRRC10 as an Auxiliary Subunit of Cardiac L-Type Ca(2+) Channels #MMPMID29431102 Woon MT ; Long PA ; Reilly L ; Evans JM ; Keefe AM ; Lea MR ; Beglinger CJ ; Balijepalli RC ; Lee Y ; Olson TM ; Kamp TJ J Am Heart Assoc 2018[Feb]; 7 (3 ): ä PMID29431102 show ga BACKGROUND: Genetic causes of dilated cardiomyopathy (DCM) are incompletely understood. LRRC10 (leucine-rich repeat-containing 10) is a cardiac-specific protein of unknown function. Heterozygous mutations in LRRC10 have been suggested to cause DCM, and deletion of Lrrc10 in mice results in DCM. METHODS AND RESULTS: Whole-exome sequencing was carried out on a patient who presented at 6 weeks of age with DCM and her unaffected parents, filtering for rare, deleterious, recessive, and de novo variants. Whole-exome sequencing followed by trio-based filtering identified a homozygous recessive variant in LRRC10, I195T. Coexpression of I195T LRRC10 with the L-type Ca(2+) channel (Ca(v)1.2, ?(2CN2), and ?(2)? subunits) in HEK293 cells resulted in a significant ?0.5-fold decrease in I(Ca,L) at 0 mV, in contrast to the ?1.4-fold increase in I(Ca,L) by coexpression of LRRC10 (n=9-12, P<0.05). Coexpression of LRRC10 or I195T LRRC10 did not alter the surface membrane expression of Ca(v)1.2. LRRC10 coexpression with Ca(v)1.2 in the absence of auxiliary ?(2CN2) and ?(2)? subunits revealed coassociation of Ca(v)1.2 and LRRC10 and a hyperpolarizing shift in the voltage dependence of activation (n=6-9, P<0.05). Ventricular myocytes from Lrrc10(-/-) mice had significantly smaller I(Ca,L), and coimmunoprecipitation experiments confirmed association between LRRC10 and the Ca(v)1.2 subunit in mouse hearts. CONCLUSIONS: Examination of a patient with DCM revealed homozygosity for a previously unreported LRRC10 variant: I195T. Wild-type and I195T LRRC10 function as cardiac-specific subunits of L-type Ca(2+) channels and exert dramatically different effects on channel gating, providing a potential link to DCM. |*Mutation [MESH] |Animals [MESH] |Calcium Channels, L-Type/genetics/*metabolism [MESH] |Calcium Signaling [MESH] |Cardiomyopathy, Dilated/diagnosis/*genetics/metabolism [MESH] |DNA Mutational Analysis [MESH] |Exome Sequencing [MESH] |Female [MESH] |Genetic Predisposition to Disease [MESH] |HEK293 Cells [MESH] |Homozygote [MESH] |Humans [MESH] |Infant [MESH] |Ion Channel Gating [MESH] |Membrane Potentials [MESH] |Mice, Inbred C57BL [MESH] |Mice, Knockout [MESH] |Microfilament Proteins/*genetics/metabolism [MESH] |Muscle Proteins/deficiency/genetics [MESH] |Myocytes, Cardiac/*metabolism/pathology [MESH]Pediatric Dilated Cardiomyopathy-Associated LRRC10 (Leucine-Rich Rep(epmc).pdf DeepDyve Pubget Overpricing