mTOR Signaling and SREBP Activity Increase FADS2 Expression and Can Activate Sapienate Biosynthesis.
Cell Reports
Triki, Mouna M; Rinaldi, Gianmarco G; Planque, Melanie M; Broekaert, Dorien D; Winkelkotte, Alina M AM; Maier, Carina R CR; Janaki Raman, Sudha S; Vandekeere, Anke A; Van Elsen, Joke J; Orth, Martin F MF; Grünewald, Thomas G P TGP; Schulze, Almut A; Fendt, Sarah-Maria SM
Upgraded molecular models of the human KCNQ1 potassium channel.
Plos One
Kuenze, Georg G; Duran, Amanda M AM; Woods, Hope H; Brewer, Kathryn R KR; McDonald, Eli Fritz EF; Vanoye, Carlos G CG; George, Alfred L AL; Sanders, Charles R CR; Meiler, Jens J
High-Throughput Functional Evaluation of KCNQ1 Decrypts Variants of Unknown Significance.
Circulation. Genomic And Precision Medicine
Vanoye, Carlos G CG; Desai, Reshma R RR; Fabre, Katarina L KL; Gallagher, Shannon L SL; Potet, Franck F; DeKeyser, Jean-Marc JM; Macaya, Daniela D; Meiler, Jens J; Sanders, Charles R CR; George, Alfred L AL
Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations.
Science Advances
Huang, Hui H; Kuenze, Georg G; Smith, Jarrod A JA; Taylor, Keenan C KC; Duran, Amanda M AM; Hadziselimovic, Arina A; Meiler, Jens J; Vanoye, Carlos G CG; George, Alfred L AL; Sanders, Charles R CR
Using the genome aggregation database, computational pathogenicity prediction tools, and patch clamp heterologous expression studies to demote previously published long QT syndrome type 1 mutations from pathogenic to benign.
Heart Rhythm
Clemens, Daniel J DJ; Lentino, Anne R AR; Kapplinger, Jamie D JD; Ye, Dan D; Zhou, Wei W; Tester, David J DJ; Ackerman, Michael J MJ