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Page 1
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.
A ZASP missense mutation, S196L, leads to cytoskeletal and electrical abnormalities in a mouse model of cardiomyopathy.
Li Z, Ai T, Samani K, Xi Y, Tzeng HP, Xie M, Wu S, Ge S, Taylor MD, Dong JW, Cheng J, Ackerman MJ, Kimura A, Sinagra G, Brunelli L, Faulkner G, Vatta M. Li Z, et al. Among authors: vatta m. Circ Arrhythm Electrophysiol. 2010 Dec;3(6):646-56. doi: 10.1161/CIRCEP.109.929240. Epub 2010 Sep 18. Circ Arrhythm Electrophysiol. 2010. PMID: 20852297
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.
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.
Variant Interpretation for Dilated Cardiomyopathy: Refinement of the American College of Medical Genetics and Genomics/ClinGen Guidelines for the DCM Precision Medicine Study.
Morales A, Kinnamon DD, Jordan E, Platt J, Vatta M, Dorschner MO, Starkey CA, Mead JO, Ai T, Burke W, Gastier-Foster J, Jarvik GP, Rehm HL, Nickerson DA, Hershberger RE; DCM Precision Medicine study of the DCM Consortium; DCM Consortium institutions and personnel participating in this study: Study Principal Investigator and Co-Investigators,DCM Consortium Clinical Site Principal Investigators and Clinical Site Other Significant Contributors (OSC). The following clinical sites and individuals contributed to the submission of RO 1 H L 128857 as Site Principal Investigators (Site Pl) or as Other Significant Contributors (OSC),Dr. Huggins also served as study co-principal investigator,The following clinical site was added following approval of NHGRI supplemental funding but prior to initiation of enrollment,The following clinical sites were added following study activation. Morales A, et al. Among authors: vatta m. Circ Genom Precis Med. 2020 Apr;13(2):e002480. doi: 10.1161/CIRCGEN.119.002480. Epub 2020 Mar 11. Circ Genom Precis Med. 2020. PMID: 32160020 Free PMC article.
224 results