Affiliation: Johns Hopkins University
Kapoor A, Sekar R, Hansen N, Fox Talbot K, Morley M, Pihur V, et al
. An enhancer polymorphism at the cardiomyocyte intercalated disc protein NOS1AP locus is a major regulator of the QT interval. Am J Hum Genet. 2014;94:854-69 pubmed publisher
..These results suggest that focused studies of proteins within the cardiomyocyte ID are likely to provide insights into QT prolongation and its associated disorders. ..
Gunadi -, Kapoor A, Ling A, Rochadi -, Makhmudi A, Herini E, et al
. Effects of RET and NRG1 polymorphisms in Indonesian patients with Hirschsprung disease. J Pediatr Surg. 2014;49:1614-8 pubmed publisher
..RET and NRG1 variants are common susceptibility factors for HSCR in Indonesia. These common variants demonstrate that development of HSCR requires joint effects of RET and NRG1 early in gut development. ..
Kapoor A, Jiang Q, Chatterjee S, Chakraborty P, Sosa M, Berrios C, et al
. Population variation in total genetic risk of Hirschsprung disease from common RET, SEMA3 and NRG1 susceptibility polymorphisms. Hum Mol Genet. 2015;24:2997-3003 pubmed publisher
..Thus, these polymorphisms can be used to stratify the newborn population into distinct phenotypic classes with defined risks to understand HSCR etiology. ..
Chatterjee S, Kapoor A, Akiyama J, Auer D, Lee D, Gabriel S, et al
. Enhancer Variants Synergistically Drive Dysfunction of a Gene Regulatory Network In Hirschsprung Disease. Cell. 2016;167:355-368.e10 pubmed publisher
..These studies show how the effects of functionally independent non-coding variants in a coordinated gene regulatory network amplify their individually small effects, providing a model for complex disorders. ..
Smith J, Zhao W, Yasutake K, August C, Ratliff S, Faul J, et al
. Gene-by-Psychosocial Factor Interactions Influence Diastolic Blood Pressure in European and African Ancestry Populations: Meta-Analysis of Four Cohort Studies. Int J Environ Res Public Health. 2017;14: pubmed publisher
Scharpf R, Mireles L, Yang Q, KÃ¶ttgen A, Ruczinski I, Susztak K, et al
. Copy number polymorphisms near SLC2A9 are associated with serum uric acid concentrations. BMC Genet. 2014;15:81 pubmed publisher
Chakravarti A. A compelling genetic hypothesis for a complex disease: PRODH2/DGCR6 variation leads to schizophrenia susceptibility. Proc Natl Acad Sci U S A. 2002;99:4755-6 pubmed
Jiang Q, Arnold S, Heanue T, Kilambi K, Doan B, Kapoor A, et al
. Functional loss of semaphorin 3C and/or semaphorin 3D and their epistatic interaction with ret are critical to Hirschsprung disease liability. Am J Hum Genet. 2015;96:581-96 pubmed publisher
..Thus, semaphorin 3C/3D signaling is an evolutionarily conserved regulator of ENS development whose dys-regulation is a cause of enteric aganglionosis. ..