Latest posts tagged with #RYR2 on Bluesky
#Research by Micah K. Madrid, Katy A. Trampel, Batool Salman, Sharon A. George, Tatiana Efimova, Bjorn Knollmann & Igor R. Efimov observes that selective #RyR2 inhibition reduces #arrhythmia susceptibility in human cardiac slices 🫀 🔬
📜👇️ physoc.onlinelibrary.wiley.com/doi/10.1113/...
#Research by D'Artagnan Greene and Yohannes Shiferaw observed that APD restitution controls #arrhythmia emergence in cardiac tissue with #RyR2 dysfunction 💻 🫀
🔗 Read their work here: physoc.onlinelibrary.wiley.com/doi/10.1113/...
🧬 Variants in #RYR2 can cause #CPVT - a hidden heart disorder where the first sign may be sudden death. Early testing & family screening can save lives. Explore this gene in #MastermindGIP 🔎 mastermind.genomenon.com/gene?gene=ry...
Family tree with affected and sequenced individuals.
The p.N2291D is located in the RIH (RyR and IP3R Homology) domain of the protein and also overlaps hotspot II
Both SPINA-GBeta and fasting proinsulin are significantly higher in RyR2 MODY diabetes. Increased SPINA-GBeta represents dynamical compensation of insulin resistance.
Breaking news: In combination with whole-exome sequencing, #SPINA_Carb helped to discover a new form of #MODY #diabetes, caused by an atypical missense variant in the #RyR2 gene (coding the the type 2 #ryanodine receptor). doi.org/10.3389/fend... 🧪🩺
