Bruce D Gelb
Affiliation: Mount Sinai School of Medicine
Homsy J, Zaidi S, Shen Y, Ware J, Samocha K, Karczewski K, et al
. De novo mutations in congenital heart disease with neurodevelopmental and other congenital anomalies. Science. 2015;350:1262-6 pubmed publisher
..These findings reveal shared genetic contributions to CHD, NDD, and CA and provide opportunities for improved prognostic assessment and early therapeutic intervention in CHD patients. ..
Gelb B. Genetic basis of congenital heart disease. Curr Opin Cardiol. 2004;19:110-5 pubmed
Mulero Navarro S, Sevilla A, Román A, Lee D, D Souza S, Pardo S, et al
. Myeloid Dysregulation in a Human Induced Pluripotent Stem Cell Model of PTPN11-Associated Juvenile Myelomonocytic Leukemia. Cell Rep. 2015;13:504-515 pubmed publisher
Manheimer K, Richter F, Edelmann L, D Souza S, Shi L, Shen Y, et al
. Robust identification of mosaic variants in congenital heart disease. Hum Genet. 2018;137:183-193 pubmed publisher
..We identified two cases with mosaic KMT2D mutations that are likely pathogenic for CHD, but conclude that, overall, mosaicism detectable in peripheral blood or saliva does not account for a significant portion of CHD etiology. ..
Gelb B, Tartaglia M. RAS signaling pathway mutations and hypertrophic cardiomyopathy: getting into and out of the thick of it. J Clin Invest. 2011;121:844-7 pubmed publisher
Gelb B, Tartaglia M. Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction. Hum Mol Genet. 2006;15 Spec No 2:R220-6 pubmed
..As these genes also encode proteins relevant for RAS-MAPK signal transduction, all of the syndromes discussed in this article now can be understood to constitute a class of disorders caused by dysregulated RAS-MAPK signaling...
Josowitz R, Mulero Navarro S, Rodriguez N, Falce C, Cohen N, Ullian E, et al
. Autonomous and Non-autonomous Defects Underlie Hypertrophic Cardiomyopathy in BRAF-Mutant hiPSC-Derived Cardiomyocytes. Stem Cell Reports. 2016;7:355-369 pubmed publisher
..Thus, cell autonomous and non-autonomous defects underlie HCM due to BRAF mutations. TGF? inhibition may be a useful therapeutic option for patients with HCM due to RASopathies or other etiologies. ..