Autonomous and Non-autonomous Defects Underlie Hypertrophic Cardiomyopathy in BRAF-Mutant hiPSC-Derived Cardiomyocytes

Autor: Rebecca Josowitz, Sonia Mulero-Navarro, Nelson A. Rodriguez, Christine Falce, Ninette Cohen, Erik M. Ullian, Lauren A. Weiss, Katherine A. Rauen, Eric A. Sobie, Bruce D. Gelb

Publikováno v: Stem Cell Reports, Vol 7, Iss 3, Pp 355-369 (2016)

Germline mutations in BRAF cause cardio-facio-cutaneous syndrome (CFCS), whereby 40% of patients develop hypertrophic cardiomyopathy (HCM). As the role of the RAS/MAPK pathway in HCM pathogenesis is unclear, we generated a human induced pluripotent s

Externí odkaz: https://doaj.org/article/60a6b92eb46e4d198cecafafd07476cc

Human Engineered Cardiac Tissues Created Using Induced Pluripotent Stem Cells Reveal Functional Characteristics of BRAF-Mediated Hypertrophic Cardiomyopathy.

Autor: Timothy J Cashman, Rebecca Josowitz, Bryce V Johnson, Bruce D Gelb, Kevin D Costa

Publikováno v: PLoS ONE, Vol 11, Iss 1, p e0146697 (2016)

Hypertrophic cardiomyopathy (HCM) is a leading cause of sudden cardiac death that often goes undetected in the general population. HCM is also prevalent in patients with cardio-facio-cutaneous syndrome (CFCS), which is a genetic disorder characterize

Externí odkaz: https://doaj.org/article/30a3f1c19404425d8de4937e94eefa51

Autonomous and Non-autonomous Defects Underlie Hypertrophic Cardiomyopathy in BRAF-Mutant hiPSC-Derived Cardiomyocytes

Autor: Lauren A. Weiss, Katherine A. Rauen, Sonia Mulero-Navarro, Erik M. Ullian, Ninette Cohen, Bruce D. Gelb, Eric A. Sobie, Rebecca Josowitz, Nelson A. Rodriguez, Christine Falce

Publikováno v: Stem Cell Reports, Vol 7, Iss 3, Pp 355-369 (2016)
Stem Cell Reports
Weiss, Lauren; Josowitz, R; Mulero-Navarro, S; Rodriguez, NA; Falce, C; Cohen, N; et al.(2016). Autonomous and Non-autonomous Defects Underlie Hypertrophic Cardiomyopathy in BRAF-Mutant hiPSC-Derived Cardiomyocytes. UC San Francisco: Retrieved from: http://www.escholarship.org/uc/item/6j48t8r4

Summary Germline mutations in BRAF cause cardio-facio-cutaneous syndrome (CFCS), whereby 40% of patients develop hypertrophic cardiomyopathy (HCM). As the role of the RAS/MAPK pathway in HCM pathogenesis is unclear, we generated a human induced pluri

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::a7dede4d92995a079b00dfc8758fc532
http://www.sciencedirect.com/science/article/pii/S2213671116301424

Construction of Defined Human Engineered Cardiac Tissues to Study Mechanisms of Cardiac Cell Therapy

Autor: Bruce D. Gelb, Rebecca Josowitz, Timothy J. Cashman, Kevin D. Costa, Ronald A. Li, Nicole Dubois

Publikováno v: Journal of Visualized Experiments.

Human cardiac tissue engineering can fundamentally impact therapeutic discovery through the development of new species-specific screening systems that replicate the biofidelity of three-dimensional native human myocardium, while also enabling a contr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::6ac2c7b7b1bb106b3a750c259104287d
https://doi.org/10.3791/53447

Common SNPs in HMGCR in Micronesians and Whites Associated With LDL-Cholesterol Levels Affect Alternative Splicing of Exon13

Autor: Jan L. Breslow, David Altshuler, Ralph Burkhardt, Julian Maller, Martha Noel, Jeffrey M. Friedman, Mark J. Daly, Itsik Pe'er, Jacqueline Salit, Rebecca Josowitz, Eimear E. Kenny, Jennifer K. Lowe, Markus Stoffel, Andrew C. Birkeland

Publikováno v: Arteriosclerosis, Thrombosis, and Vascular Biology. 28:2078-2084

Background— Variation in LDL-cholesterol (LDL-C) among individuals is a complex genetic trait involving multiple genes and gene-environment interactions. Methods and Results— In a genome-wide association study (GWAS) to identify genetic variants

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::be4aaeb374ad4253478f31648beee06f
https://doi.org/10.1161/atvbaha.108.172288