MultiSearch Tag Explorer MultiSearch Tag Explorer - Explore tags and search results by aéPiot - aéPiot: Independent SEMANTIC Web 4.0 Infrastructure (Est. 2009). High-density Functional Semantic Connectivity with 100/100 Trust...

#RYANODINE #RECEPTOR
aepiot.ro/advanced-sea...
HD 176986
multi-search-tag-explorer.allgraph.ro/advanced-sea...
aepiot.com

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... 🧪🩺