SNPMiner Trials by Shray Alag

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SNPMiner SNPMiner Trials (Home Page)


Report for Mutation S2808A

Developed by Shray Alag, 2020.
SNP Clinical Trial Gene

There is one clinical trial.

Clinical Trials


1 Role of Amino Acids and Genetic Disorder in Pathogenesis of Heart Failure

Heart failure (HF) is a continuously growing public health problem. The study aim to provide novel insights into the role of amino acids in pathogenesis of heart failure, to obtain a better understanding of cardiac ryanodine Receptor 2 role as an essential player in excitation-contraction coupling in pathogenesis of heart failure and clarify the potential value of these markers as targets for heart failure therapy

NCT03590522
Conditions
  1. Heart Failure
Interventions
  1. Genetic: Ryanodine Receptor 2 gene expression
MeSH:Heart Failure Genetic Diseases, Inborn
HPO:Abnormal left ventricular function Congestive heart failure Right ventricular failure

In support of this hypothesis, mice unable to undergo phosphorylation at RyR2-S2808 (S2808A) were significantly protected against HF and displayed a blunted response to adrenergic stimulation. --- S2808A ---

Primary Outcomes

Description: better understanding of cardiac ryanodine Receptor 2 role as an essential player in excitation-contraction coupling in pathogenesis of heart failure and the role of amino acids in pathogenesis of heart failure

Measure: Decrease cardiac ryanodine Receptor 2 gene expression and change of amino acids levels in patients with heart failure.

Time: Baseline


HPO Nodes


HP:0001635: Congestive heart failure
Genes 261
TBX20 RAB3GAP2 AGPAT2 FLNC LDB3 TMEM127 FOS COG7 PHYH HFE PRKAR1A GNPTAB KCNJ5 LIMK1 TRNK RBM20 PPARG SDHAF2 HBB STAT1 HADHA VHL FGFR3 PRKAG2 ENPP1 RET CAV3 SELENON EYA4 PNPLA2 PRKAR1A SCO2 LMNA RYR1 FBN1 MYL3 HJV ELAC2 TMEM43 TRNL1 CITED2 DES ABCC6 CLIP2 COX3 CYTB JUP TPI1 ADCY5 PSEN1 FH GDF2 DSP ELN TTN IKBKG GJA1 BAZ1B HNRNPA1 GPR35 COL1A1 CCR6 TRNQ AFF4 RFC2 GTF2I TTN GATA4 CACNA1S GLB1 TNNI3 AGGF1 SF3B1 CAVIN1 PLN TRNF TNNI3K TCF4 VCL TUBB RET ATXN7 LMNA LMNA GTPBP3 XYLT2 SDHB FBLN5 HBA1 MYH7 TMEM127 KIF1B DES HADHB DNMT3A VPS33A CAV1 CDH23 TLL1 EPG5 ATP6V1A GLA BMP2 EFEMP2 SLC25A11 HADHB ACTN2 ND1 PSMB8 SCN1B CP TMEM70 MYD88 HBB SMAD4 ALMS1 MTTP MAX ACAD9 VHL SLC25A3 FGD1 NDUFB8 TRNW HBA2 SDHD BCHE WRN SLC2A10 TRNS2 CYTB ENG SDHB NDUFB11 LMNA DMD COX2 CAV1 NKX2-5 LMNA SURF1 HLA-DRB1 GATAD1 SDHC PRKAR1A TRNK PRDM16 TNNT2 GNA11 IFIH1 ABCC6 HBB MDH2 NDUFS2 TRNV SDHA ACAD9 FXN SLC25A26 SLC19A2 GTF2IRD1 RPS19 GLA PPA2 MYPN EYA4 CITED2 DTNA MAX NF1 LMNA XYLT1 ND6 SNAP29 TBX20 DSP MST1 FLNA DLST MYH7 MYH7 ADAMTSL2 MYH7 VCP SCN4A ALMS1 NKX2-5 GDNF HFE TF MECP2 BAG3 HAMP TRNK TET2 ACTC1 RASA1 LMNA LMNA MYH6 TRPM4 TRIM37 SDHD TLL1 TRNC STRADA CCN2 HNRNPA2B1 MYH7 TAZ RET CLIC2 SGCD GTPBP3 PEX7 SDHB TRIP4 MYSM1 TPM1 NDUFAF3 PTEN CEP19 SDHD NDUFAF1 FGF23 EPAS1 ND5 SLC17A5 HADHA GATA6 BSCL2 ATP5F1A ACVRL1 CLIC2 IRF5 ACTC1 TBL2 MAPRE2 JUP CASR KIF1B VHL NSMCE2 TRNL1 ADCY5 DNAJC19 DSP MYLK2 PLOD1 COX1 MYH6 COL1A2 IDS PPARG ENG SCN5A GBA TRNS1 PSEN2 SLC22A5 TRNE
SNP 0