Genomes and Genes
Experts and Doctors on sarcomeres in Italy
- Roncarati R, Latronico M, Musumeci B, Aurino S, Torella A, Bang M, et al. Unexpectedly low mutation rates in beta-myosin heavy chain and cardiac myosin binding protein genes in Italian patients with hypertrophic cardiomyopathy. J Cell Physiol. 2011;226:2894-900 pubmed publisher..This finding, coupled to the clinical diversity of our cohort, emphasizes the complexity of HCM and the need for more inclusive investigative approaches in order to fully understand the pathogenesis of this disease...
- Emanueli C, Maestri R, Corradi D, Marchione R, Minasi A, Tozzi M, et al. Dilated and failing cardiomyopathy in bradykinin B(2) receptor knockout mice. Circulation. 1999;100:2359-65 pubmed..01), and reparative fibrosis. The disruption of the bradykinin B(2) receptor leads to hypertension, LV remodeling, and functional impairment, implying that kinins are essential for the functional and structural preservation of the heart. ..
- Roncarati R, Viviani Anselmi C, Krawitz P, Lattanzi G, von Kodolitsch Y, Perrot A, et al. Doubly heterozygous LMNA and TTN mutations revealed by exome sequencing in a severe form of dilated cardiomyopathy. Eur J Hum Genet. 2013;21:1105-11 pubmed publisher..In addition, they not only indicate that LMNA and TTN mutational status may be useful in this family for risk stratification in individuals at risk for DCM but also suggest titin as a modifier for DCM. ..