We are studying the molecular pathways involved in craniofacial patterning and heart development and their role in the pathology of congenital disease. A large number of congenital malformations affecting infants involve either craniofacial structures or the heart, leading to substantial morbidity and mortality. Interestingly, many congenital syndromes result in abnormalities both in craniofacial development and cardiac development suggesting that the molecular signals involved in the development of these two different organ systems are shared. Yet, the identities and the biological roles of many of these signals are still not well defined. Here, we will develop genetic approaches using both a forward and reverse screen in Xenopus that will be integrated with ongoing cellular and biochemical approaches in our two labs to investigate the genetic control of craniofacial pattern formation and heart development.

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Our primary goal is to better understand the basic biology and pathobiology of craniofacial and cardiac development. To this end, we will use the model organism Xenopus tropicalis to conduct forward and reverse genetics screens to generate animal for human disease states and to identify the molecular pathways involved in the development of cardiac and craniofacial tissues.

National Institute of Health (NIH)
National Institute of Dental & Craniofacial Research (NIDCR)
Research Project (R01)
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Special Emphasis Panel (ZRG1-GGG-T (52))
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Scholnick, Steven
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University of North Carolina Chapel Hill
Schools of Medicine
Chapel Hill
United States
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Amin, Nirav M; Tandon, Panna; Osborne Nishimura, Erin et al. (2014) RNA-seq in the tetraploid Xenopus laevis enables genome-wide insight in a classic developmental biology model organism. Methods 66:398-409
Sojka, Stephen; Amin, Nirav M; Gibbs, Devin et al. (2014) Congenital heart disease protein 5 associates with CASZ1 to maintain myocardial tissue integrity. Development 141:3040-9
Amin, Nirav M; Greco, Todd M; Kuchenbrod, Lauren M et al. (2014) Proteomic profiling of cardiac tissue by isolation of nuclei tagged in specific cell types (INTACT). Development 141:962-73
Amin, Nirav M; Gibbs, Devin; Conlon, Frank L (2014) Differential regulation of CASZ1 protein expression during cardiac and skeletal muscle development. Dev Dyn 243:948-56
Charpentier, Marta S; Christine, Kathleen S; Amin, Nirav M et al. (2013) CASZ1 promotes vascular assembly and morphogenesis through the direct regulation of an EGFL7/RhoA-mediated pathway. Dev Cell 25:132-43
Jonas, Stephan; Zhou, Elaine; Deniz, Engin et al. (2013) A novel approach to quantifying ciliary physiology: microfluidic mixing driven by a ciliated biological surface. Lab Chip 13:4160-3
Boskovski, Marko T; Yuan, Shiaulou; Pedersen, Nis Borbye et al. (2013) The heterotaxy gene GALNT11 glycosylates Notch to orchestrate cilia type and laterality. Nature 504:456-9
van Veenendaal, Nicole R; Ulmer, Barbel; Boskovski, Marko T et al. (2013) Embryonic exposure to propylthiouracil disrupts left-right patterning in Xenopus embryos. FASEB J 27:684-91
Kaltenbrun, Erin; Greco, Todd M; Slagle, Christopher E et al. (2013) A Gro/TLE-NuRD corepressor complex facilitates Tbx20-dependent transcriptional repression. J Proteome Res 12:5395-409
Langdon, Yvette; Tandon, Panna; Paden, Erika et al. (2012) SHP-2 acts via ROCK to regulate the cardiac actin cytoskeleton. Development 139:948-57

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