A Human Hereditary Cardiomyopathy Shares a Genetic Substrate With Bicuspid Aortic Valve.
Siguero-Álvarez M, Salguero-Jiménez A, Grego-Bessa J, de la Barrera J, MacGrogan D, Prados B, Sánchez-Sáez F, Piñeiro-Sabarís R, Felipe-Medina N, Torroja C, Gómez MJ, Sabater-Molina M, Escribá R, Richaud-Patin I, Iglesias-García O, Sbroggio M, Callejas S, O'Regan DP, McGurk KA, Dopazo A, Giovinazzo G, Ibañez B, Monserrat L, Pérez-Pomares JM, Sánchez-Cabo F, Pendas AM, Raya A, Gimeno-Blanes JR, de la Pompa JL.
Siguero-Álvarez M, et al.
Circulation. 2023 Jan 3;147(1):47-65. doi: 10.1161/CIRCULATIONAHA.121.058767. Epub 2022 Nov 3.
Circulation. 2023.
PMID: 36325906
Free article.
We also generated mice separately carrying these MIB1 mutations plus 5 additional cosegregating variants in the ASXL3, APCDD1, TMX3, CEP192, and BCL7A genes identified in these LVNC families by whole exome sequencing. ...Whole exome sequencing of LVNC families revealed sin …
We also generated mice separately carrying these MIB1 mutations plus 5 additional cosegregating variants in the ASXL3, APCDD1, TMX3, …