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MIB2 variants altering NOTCH signalling result in left ventricle hypertrabeculation/non-compaction and are associated with Ménétrier-like gastropathy.
Piccolo P, Attanasio S, Secco I, Sangermano R, Strisciuglio C, Limongelli G, Miele E, Mutarelli M, Banfi S, Nigro V, Pons T, Valencia A, Zentilin L, Campione S, Nardone G, Lynnes TC, Celestino-Soper PB, Spoonamore KG, D'Armiento FP, Giacca M, Staiano A, Vatta M, Collesi C, Brunetti-Pierri N. Piccolo P, et al. Among authors: vatta m. Hum Mol Genet. 2017 Jan 1;26(1):33-43. doi: 10.1093/hmg/ddw365. Hum Mol Genet. 2017. PMID: 28013292 Free article.
Phosphorylation of the RSRSP stretch is critical for splicing regulation by RNA-Binding Motif Protein 20 (RBM20) through nuclear localization.
Murayama R, Kimura-Asami M, Togo-Ohno M, Yamasaki-Kato Y, Naruse TK, Yamamoto T, Hayashi T, Ai T, Spoonamore KG, Kovacs RJ, Vatta M, Iizuka M, Saito M, Wani S, Hiraoka Y, Kimura A, Kuroyanagi H. Murayama R, et al. Among authors: vatta m. Sci Rep. 2018 Jun 12;8(1):8970. doi: 10.1038/s41598-018-26624-w. Sci Rep. 2018. PMID: 29895960 Free PMC article.
Dysfunction in the βII spectrin-dependent cytoskeleton underlies human arrhythmia.
Smith SA, Sturm AC, Curran J, Kline CF, Little SC, Bonilla IM, Long VP, Makara M, Polina I, Hughes LD, Webb TR, Wei Z, Wright P, Voigt N, Bhakta D, Spoonamore KG, Zhang C, Weiss R, Binkley PF, Janssen PM, Kilic A, Higgins RS, Sun M, Ma J, Dobrev D, Zhang M, Carnes CA, Vatta M, Rasband MN, Hund TJ, Mohler PJ. Smith SA, et al. Among authors: vatta m. Circulation. 2015 Feb 24;131(8):695-708. doi: 10.1161/CIRCULATIONAHA.114.013708. Epub 2015 Jan 28. Circulation. 2015. PMID: 25632041 Free PMC article.
Novel mutations in domain I of SCN5A cause Brugada syndrome.
Vatta M, Dumaine R, Antzelevitch C, Brugada R, Li H, Bowles NE, Nademanee K, Brugada J, Brugada P, Towbin JA. Vatta M, et al. Mol Genet Metab. 2002 Apr;75(4):317-24. doi: 10.1016/S1096-7192(02)00006-9. Mol Genet Metab. 2002. PMID: 12051963
222 results