Abstract

Growth hormone deficiency (GHD) and secretory insufficiency are major causes of growth faillure and consequent severe short stature. While central nervous system dysfunction accounts for most cases of GHD, specific genetic defects in the GH secretory apparatus can also be responsible, especially when GHD occurs in families. We will define a pool of affected individuals by appropriate endocrine screening studies, test for association with GHRHR and other candiate genes, identify regions of the human GHRHR gene most likely to have phenotypically significant mutations and then screen for such mutations and we will examine leukocyte mRNA for low level transcription of GHRHR gene which could be sxploited for mutation analysis.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
2M01RR006020-09A1
Application #
6122549
Study Section
Project Start
1998-12-01
Project End
1999-11-30
Budget Start
1998-10-01
Budget End
1999-09-30
Support Year
9
Fiscal Year
1999
Total Cost
Indirect Cost

  Institution

Name
Weill Medical College of Cornell University
Department
Type
DUNS #
201373169
City
New York
State
NY
Country
United States
Zip Code
10065

  Publications

Cunningham-Rundles, Susanna; Ahrné, Siv; Johann-Liang, Rosemary et al. (2011) Effect of probiotic bacteria on microbial host defense, growth, and immune function in human immunodeficiency virus type-1 infection. Nutrients 3:1042-70
Martin, Maureen P; Qi, Ying; Goedert, James J et al. (2010) IL28B polymorphism does not determine outcomes of hepatitis B virus or HIV infection. J Infect Dis 202:1749-53
Cunningham-Rundles, Susanna; Lin, Hong; Ho-Lin, Deborah et al. (2009) Role of nutrients in the development of neonatal immune response. Nutr Rev 67 Suppl 2:S152-63
Peoples, John Denton; Cheung, Sandy; Nesin, Mirjana et al. (2009) Neonatal cord blood subsets and cytokine response to bacterial antigens. Am J Perinatol 26:647-57
Tatad, A M Francesca; Nesin, Mirjana; Peoples, John et al. (2008) Cytokine expression in response to bacterial antigens in preterm and term infant cord blood monocytes. Neonatology 94:8-15
Thio, Chloe L; Astemborski, Jacquie; Thomas, Rasmi et al. (2008) Interaction between RANTES promoter variant and CCR5Delta32 favors recovery from hepatitis B. J Immunol 181:7944-7
Thio, Chloe L; Astemborski, Jacquie; Bashirova, Arman et al. (2007) Genetic protection against hepatitis B virus conferred by CCR5Delta32: Evidence that CCR5 contributes to viral persistence. J Virol 81:441-5
Motaghedi, Roja; Gujral, Sahil; Sinha, Sunil et al. (2007) Insulin-like growth factor binding protein-1 to screen for insulin resistance in children. Diabetes Technol Ther 9:43-51
Diaz, Alejandro; Vogiatzi, Maria G; Sanz, Maureen M et al. (2006) Evaluation of short stature, carbohydrate metabolism and other endocrinopathies in Bloom's syndrome. Horm Res 66:111-7
Vogiatzi, Maria G; Autio, Karen A; Mait, Jeffrey E et al. (2005) Low bone mineral density in adolescents with beta-thalassemia. Ann N Y Acad Sci 1054:462-6

Showing the most recent 10 out of 56 publications