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Evidence-Based Assessment of Genes in Dilated Cardiomyopathy.
Jordan E, Peterson L, Ai T, Asatryan B, Bronicki L, Brown E, Celeghin R, Edwards M, Fan J, Ingles J, James CA, Jarinova O, Johnson R, Judge DP, Lahrouchi N, Lekanne Deprez RH, Lumbers RT, Mazzarotto F, Medeiros Domingo A, Miller RL, Morales A, Murray B, Peters S, Pilichou K, Protonotarios A, Semsarian C, Shah P, Syrris P, Thaxton C, van Tintelen JP, Walsh R, Wang J, Ware J, Hershberger RE. Jordan E, et al. Among authors: ai t. Circulation. 2021 Jul 6;144(1):7-19. doi: 10.1161/CIRCULATIONAHA.120.053033. Epub 2021 May 5. Circulation. 2021. PMID: 33947203 Free PMC 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: ai t. 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.
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: ai t. 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: ai t. Sci Rep. 2018 Jun 12;8(1):8970. doi: 10.1038/s41598-018-26624-w. Sci Rep. 2018. PMID: 29895960 Free PMC article.
A Novel SCN5A Mutation Associated with Drug Induced Brugada Type ECG.
Turker I, Makiyama T, Vatta M, Itoh H, Ueyama T, Shimizu A, Ai T, Horie M. Turker I, et al. Among authors: ai t. PLoS One. 2016 Aug 25;11(8):e0161872. doi: 10.1371/journal.pone.0161872. eCollection 2016. PLoS One. 2016. PMID: 27560382 Free PMC article.
Loss of function of hNav1.5 by a ZASP1 mutation associated with intraventricular conduction disturbances in left ventricular noncompaction.
Xi Y, Ai T, De Lange E, Li Z, Wu G, Brunelli L, Kyle WB, Turker I, Cheng J, Ackerman MJ, Kimura A, Weiss JN, Qu Z, Kim JJ, Faulkner G, Vatta M. Xi Y, et al. Among authors: ai t. Circ Arrhythm Electrophysiol. 2012 Oct;5(5):1017-26. doi: 10.1161/CIRCEP.111.969220. Epub 2012 Aug 28. Circ Arrhythm Electrophysiol. 2012. PMID: 22929165 Free PMC article.
380 results