Abstract

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).

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
Eunice Kennedy Shriver National Institute of Child Health & Human Development (NICHD)
Type
Research Program Projects (P01)
Project #
5P01HD070454-04
Application #
8700164
Study Section
Special Emphasis Panel (ZHD1)
Project Start
Project End
Budget Start
2014-07-01
Budget End
2015-06-30
Support Year
4
Fiscal Year
2014
Total Cost
Indirect Cost

  Institution

Name
Albert Einstein College of Medicine
Department
Type
DUNS #
City
Bronx
State
NY
Country
United States
Zip Code
10461

  Publications

Johnston, Jennifer J; van der Smagt, Jasper J; Rosenfeld, Jill A et al. (2018) Autosomal recessive Noonan syndrome associated with biallelic LZTR1 variants. Genet Med 20:1175-1185
Zhao, Yingjie; Guo, Tingwei; Fiksinski, Ania et al. (2018) Variance of IQ is partially dependent on deletion type among 1,427 22q11.2 deletion syndrome subjects. Am J Med Genet A 176:2172-2181
Morrow, Bernice E; McDonald-McGinn, Donna M; Emanuel, Beverly S et al. (2018) Molecular genetics of 22q11.2 deletion syndrome. Am J Med Genet A 176:2070-2081
Guo, Tingwei; Diacou, Alexander; Nomaru, Hiroko et al. (2018) Deletion size analysis of 1680 22q11.2DS subjects identifies a new recombination hotspot on chromosome 22q11.2. Hum Mol Genet 27:1150-1163
Grand, Katheryn; Levitt Katz, Lorraine E; Crowley, T Blaine et al. (2018) The impact of hypocalcemia on full scale IQ in patients with 22q11.2 deletion syndrome. Am J Med Genet A 176:2167-2171
Hasten, Erica; McDonald-McGinn, Donna M; Crowley, Terrence B et al. (2018) Dysregulation of TBX1 dosage in the anterior heart field results in congenital heart disease resembling the 22q11.2 duplication syndrome. Hum Mol Genet 27:1847-1857
Gur, R E; Bassett, A S; McDonald-McGinn, D M et al. (2017) A neurogenetic model for the study of schizophrenia spectrum disorders: the International 22q11.2 Deletion Syndrome Brain Behavior Consortium. Mol Psychiatry 22:1664-1672
Agopian, A J; Goldmuntz, Elizabeth; Hakonarson, Hakon et al. (2017) Genome-Wide Association Studies and Meta-Analyses for Congenital Heart Defects. Circ Cardiovasc Genet 10:e001449
Johnston, H Richard; Chopra, Pankaj; Wingo, Thomas S et al. (2017) PEMapper and PECaller provide a simplified approach to whole-genome sequencing. Proc Natl Acad Sci U S A 114:E1923-E1932
Hoang, Thanh T; Marengo, Lisa K; Mitchell, Laura E et al. (2017) Original Findings and Updated Meta-Analysis for the Association Between Maternal Diabetes and Risk for Congenital Heart Disease Phenotypes. Am J Epidemiol 186:118-128

Showing the most recent 10 out of 44 publications