Abstract

We have identified a family with autosomal recessive disease affecting estrogen receptor expression and function. The homozygote proband is an adult male with markedly decreased bone mineral density. This study will examine (1) whether there is a relationship between estrogen receptor status in this patient's pedigree; and (2) study the inheritance of this mutation. We hypothesize that carriers of this mutation will have decreased BMD and alterations in biomarkers of bone metabolism consistent with increased bone turnover.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR008084-03
Application #
5225666
Study Section
Project Start
Project End
Budget Start
Budget End
Support Year
3
Fiscal Year
1996
Total Cost
Indirect Cost

  Publications

Natarajan, Girija; Shankaran, Seetha; Laptook, Abbot R et al. (2018) Association between sedation-analgesia and neurodevelopment outcomes in neonatal hypoxic-ischemic encephalopathy. J Perinatol 38:1060-1067
Askie, Lisa M; Darlow, Brian A; Finer, Neil et al. (2018) Association Between Oxygen Saturation Targeting and Death or Disability in Extremely Preterm Infants in the Neonatal Oxygenation Prospective Meta-analysis Collaboration. JAMA 319:2190-2201
DiFrancesco, Mark W; Shamsuzzaman, Abu; McConnell, Keith B et al. (2018) Age-related changes in baroreflex sensitivity and cardiac autonomic tone in children mirrored by regional brain gray matter volume trajectories. Pediatr Res 83:498-505
Autmizguine, Julie; Tan, Sylvia; Cohen-Wolkowiez, Michael et al. (2018) Antifungal Susceptibility and Clinical Outcome in Neonatal Candidiasis. Pediatr Infect Dis J 37:923-929
Jilling, Tamas; Ambalavanan, Namasivayam; Cotten, C Michael et al. (2018) Surgical necrotizing enterocolitis in extremely premature neonates is associated with genetic variations in an intergenic region of chromosome 8. Pediatr Res 83:943-953
Zeller, Meg H; Pendery, Emma C; Reiter-Purtill, Jennifer et al. (2017) From adolescence to young adulthood: trajectories of psychosocial health following Roux-en-Y gastric bypass. Surg Obes Relat Dis 13:1196-1203
Srinivasan, Lakshmi; Page, Grier; Kirpalani, Haresh et al. (2017) Genome-wide association study of sepsis in extremely premature infants. Arch Dis Child Fetal Neonatal Ed 102:F439-F445
Shankaran, Seetha; Laptook, Abbot R; McDonald, Scott A et al. (2017) Acute Perinatal Sentinel Events, Neonatal Brain Injury Pattern, and Outcome of Infants Undergoing a Trial of Hypothermia for Neonatal Hypoxic-Ischemic Encephalopathy. J Pediatr 180:275-278.e2
Hogan, Jonathan J; Palmer, Matthew D; Loren, Alison W et al. (2017) Quiz Page May 2017: CKD and Nephrotic Syndrome After Allogeneic Hematopoietic Cell Transplantation. Am J Kidney Dis 69:A10-A13
Di Fiore, Juliann M; Martin, Richard J; Li, Hong et al. (2017) Patterns of Oxygenation, Mortality, and Growth Status in the Surfactant Positive Pressure and Oxygen Trial Cohort. J Pediatr 186:49-56.e1

Showing the most recent 10 out of 502 publications