We will determine the molecular pathogenesis of CTDs by taking mouse genetics approaches. We propose that Tbxl genetic pathways are required for cardiac outflow tract development and when altered alters risk to CTDs in 22q11DS (Project 1) and more frequent non-syndromic forms (Project 2).

Agency
National Institute of Health (NIH)
Type
Research Program Projects (P01)
Project #
5P01HD070454-04
Application #
8700164
Study Section
Special Emphasis Panel (ZHD1)
Project Start
Project End
Budget Start
Budget End
Support Year
4
Fiscal Year
2014
Total Cost
Indirect Cost
Name
Albert Einstein College of Medicine
Department
Type
DUNS #
City
Bronx
State
NY
Country
United States
Zip Code
10461
Werner, Petra; Latney, Brande; Deardorff, Matthew A et al. (2016) MESP1 Mutations in Patients with Congenital Heart Defects. Hum Mutat 37:308-14
Mlynarski, Elisabeth E; Xie, Michael; Taylor, Deanne et al. (2016) Rare copy number variants and congenital heart defects in the 22q11.2 deletion syndrome. Hum Genet 135:273-85
Hestand, Matthew S; Nowakowska, Beata A; Vergaelen, Elfi et al. (2016) A catalog of hemizygous variation in 127 22q11 deletion patients. Hum Genome Var 3:15065
Guo, Tingwei; Chung, Jonathan H; Wang, Tao et al. (2015) Histone Modifier Genes Alter Conotruncal Heart Phenotypes in 22q11.2 Deletion Syndrome. Am J Hum Genet 97:869-77
Mlynarski, Elisabeth E; Sheridan, Molly B; Xie, Michael et al. (2015) Copy-Number Variation of the Glucose Transporter Gene SLC2A3 and Congenital Heart Defects in the 22q11.2 Deletion Syndrome. Am J Hum Genet 96:753-64
McDonald-McGinn, Donna M; Sullivan, Kathleen E; Marino, Bruno et al. (2015) 22q11.2 deletion syndrome. Nat Rev Dis Primers 1:15071
Chung, Jonathan H; Cai, Jinlu; Suskin, Barrie G et al. (2015) Whole-Genome Sequencing and Integrative Genomic Analysis Approach on Two 22q11.2 Deletion Syndrome Family Trios for Genotype to Phenotype Correlations. Hum Mutat 36:797-807
Racedo, Silvia E; McDonald-McGinn, Donna M; Chung, Jonathan H et al. (2015) Mouse and human CRKL is dosage sensitive for cardiac outflow tract formation. Am J Hum Genet 96:235-44
Vorstman, Jacob A S; Breetvelt, Elemi J; Duijff, Sasja N et al. (2015) Cognitive decline preceding the onset of psychosis in patients with 22q11.2 deletion syndrome. JAMA Psychiatry 72:377-85
Ramakrishnan, Anushuya; Lee, Laura J; Mitchell, Laura E et al. (2015) Maternal Hypertension During Pregnancy and the Risk of Congenital Heart Defects in Offspring: A Systematic Review and Meta-analysis. Pediatr Cardiol 36:1442-51

Showing the most recent 10 out of 27 publications