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
Lopez-Rivera, Esther; Liu, Yangfan P; Verbitsky, Miguel et al. (2017) Genetic Drivers of Kidney Defects in the DiGeorge Syndrome. N Engl J Med 376:742-754
Guo, Tingwei; Repetto, Gabriela M; McDonald McGinn, Donna M et al. (2017) Genome-Wide Association Study to Find Modifiers for Tetralogy of Fallot in the 22q11.2 Deletion Syndrome Identifies Variants in the GPR98 Locus on 5q14.3. Circ Cardiovasc Genet 10:
Racedo, Silvia E; Hasten, Erica; Lin, Mingyan et al. (2017) Reduced dosage of ?-catenin provides significant rescue of cardiac outflow tract anomalies in a Tbx1 conditional null mouse model of 22q11.2 deletion syndrome. PLoS Genet 13:e1006687
Kruszka, Paul; Addissie, Yonit A; McGinn, Daniel E et al. (2017) 22q11.2 deletion syndrome in diverse populations. Am J Med Genet A 173:879-888

Showing the most recent 10 out of 44 publications