Sherly Pardo

TL;DR: In vitro-derived cardiomyocytes from LEOPARD syndrome iPSCs are larger, have a higher degree of sarcomeric organization and preferential localization of NFATC4 in the nucleus when compared with cardiomeocytes derived from human embryonic stem cells or wild-type iPSC derived from a healthy brother of one of the LEopARD syndrome patients, which correlate with a potential hypertrophic state.

TL;DR: Hemizygosity of the GTF2 family of transcription factors is sufficient to produce many aspects of the WBS CBP, and particularly implicate theGTF2 transcription factors in the visuospatial construction deficit.

TL;DR: It is reported that hematopoietic cells differentiated from human induced pluripotent stem cells (hiPSCs) harboring NS/JMML-causing PTPN11 mutations recapitulated JMML features and microRNA dysregulation was discovered, establishing a genotype-phenotype association for JMML and providing therapeutic targets.

TL;DR: Biochemical studies showed that DCM-associated RAF1 mutants had altered kinase activity, resulting in largely unaltered ERK activation but in AKT that was hyperactivated in a BRAF-dependent manner, which resulted in a heart failure phenotype with AKT hyperactivation that was rescued by treatment with rapamycin.

TL;DR: The status of clinical genetic cancer services for both US Latinos and those Latinos living in Latin America are discussed, including barriers to genetic testing and alternatives for providing better access to genetic services.