Abstract

Tricho-dento-osseous syndrome(TDO) is an autosomal dominant disorder affecting hair, teeth and bone. The presence of defects in both ectodermal and mesenchymal tissues in TDO suggests that essential and shared processes of tissue formation exist and are dysfunctional. These investigations are undertaken to establish the molecular basis of TDO which is essential to understanding the pathogenesis of this disorder. Immediate goals are the characterization of the TDO phyotype and phenotypic variability in two large populations with TDO, and to establish a genomic locus linked to the TDO trait. In addition to the importance of this information to diagnosis and treatment of individuals with TDO, these studies are expected to provide basic information on the metabolic nature and molecular basis of excess bone formation that is characteristic of TDO and could be of great therapeutic significance for individuals with osteoporosis. The proposal for this study has just received NIH-NIDR funding. ?

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
Biotechnology Resource Grants (P41)
Project #
5P41RR003655-13
Application #
6121778
Study Section
Project Start
1998-09-01
Project End
1999-08-31
Budget Start
Budget End
Support Year
13
Fiscal Year
1998
Total Cost
Indirect Cost

  Institution

Name
Case Western Reserve University
Department
Type
DUNS #
077758407
City
Cleveland
State
OH
Country
United States
Zip Code
44106

  Publications

Elston, Robert C; Satagopan, Jaya; Sun, Shuying (2017) Statistical Genetic Terminology. Methods Mol Biol 1666:1-9
Thota, Prashanthi N; Zackria, Shamiq; Sanaka, Madhusudhan R et al. (2017) Racial Disparity in the Sex Distribution, the Prevalence, and the Incidence of Dysplasia in Barrett's Esophagus. J Clin Gastroenterol 51:402-406
Liang, Jingjing; Cade, Brian E; Wang, Heming et al. (2016) Comparison of Heritability Estimation and Linkage Analysis for Multiple Traits Using Principal Component Analyses. Genet Epidemiol 40:222-32
Wang, Chuchu; Wu, Manman; Qian, Jin et al. (2016) Identification of rare variants in TNNI3 with atrial fibrillation in a Chinese GeneID population. Mol Genet Genomics 291:79-92
Lemas, Dominick J; Klimentidis, Yann C; Aslibekyan, Stella et al. (2016) Polymorphisms in stearoyl coa desaturase and sterol regulatory element binding protein interact with N-3 polyunsaturated fatty acid intake to modify associations with anthropometric variables and metabolic phenotypes in Yup'ik people. Mol Nutr Food Res 60:2642-2653
Day, Kenneth; Waite, Lindsay L; Alonso, Arnald et al. (2016) Heritable DNA Methylation in CD4+ Cells among Complex Families Displays Genetic and Non-Genetic Effects. PLoS One 11:e0165488
Justice, Cristina M; Bishop, Kevin; Carrington, Blake et al. (2016) Evaluation of IRX Genes and Conserved Noncoding Elements in a Region on 5p13.3 Linked to Families with Familial Idiopathic Scoliosis and Kyphosis. G3 (Bethesda) 6:1707-12
Petrovic, Dusan; Pivin, Edward; Ponte, Belen et al. (2016) Sociodemographic, behavioral and genetic determinants of allostatic load in a Swiss population-based study. Psychoneuroendocrinology 67:76-85
Castiblanco, John; Sarmiento-Monroy, Juan Camilo; Mantilla, Ruben Dario et al. (2015) Familial Aggregation and Segregation Analysis in Families Presenting Autoimmunity, Polyautoimmunity, and Multiple Autoimmune Syndrome. J Immunol Res 2015:572353
Shetty, Priya B; Tang, Hua; Feng, Tao et al. (2015) Variants for HDL-C, LDL-C, and triglycerides identified from admixture mapping and fine-mapping analysis in African American families. Circ Cardiovasc Genet 8:106-13

Showing the most recent 10 out of 922 publications