Abstract

Initial kindred with cortisol resistance has been described biochemically. The disorder is recessive. A new index subject with probable cortisol resistance has been identified-new clinical presentation as gynecomastia in a 6 year old boy. Plan to start ligand binding studies to glucocorticoid receptors at intact lymphocytes of the new subject. The new subject identified this year may be the first of a new kindred.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR006192-07
Application #
6309832
Study Section
Project Start
1999-12-01
Project End
2000-11-30
Budget Start
1998-10-01
Budget End
1999-09-30
Support Year
7
Fiscal Year
2000
Total Cost
$19,111
Indirect Cost

  Institution

Name
University of Connecticut
Department
Type
DUNS #
City
Farmington
State
CT
Country
United States
Zip Code
06030

  Publications

Lieberman, Richard; Kranzler, Henry R; Levine, Eric S et al. (2018) Examining the effects of alcohol on GABAA receptor mRNA expression and function in neural cultures generated from control and alcohol dependent donor induced pluripotent stem cells. Alcohol 66:45-53
Usmani, Saad; Choquette, Linda; Bona, Robert et al. (2018) Transient bacteremia induced by dental cleaning is not associated with infection of central venous catheters in patients with cancer. Oral Surg Oral Med Oral Pathol Oral Radiol 125:286-294
Moscufo, Nicola; Wakefield, Dorothy B; Meier, Dominik S et al. (2018) Longitudinal microstructural changes of cerebral white matter and their association with mobility performance in older persons. PLoS One 13:e0194051
Santos-Cortez, Regie Lyn P; Hu, Ying; Sun, Fanyue et al. (2017) Identification of ASAH1 as a susceptibility gene for familial keloids. Eur J Hum Genet 25:1155-1161
Jin, Lingling; Liu, Yi; Sun, Fanyue et al. (2017) Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia. Sci Rep 7:40935
Lieberman, Richard; Kranzler, Henry R; Levine, Eric S et al. (2017) Examining FKBP5 mRNA expression in human iPSC-derived neural cells. Psychiatry Res 247:172-181
Liu, Yaling; Dutra, Eliane H; Reichenberger, Ernst J et al. (2016) Dietary phosphate supplement does not rescue skeletal phenotype in a mouse model for craniometaphyseal dysplasia. J Negat Results Biomed 15:18
Lieberman, Richard; Armeli, Stephen; Scott, Denise M et al. (2016) FKBP5 genotype interacts with early life trauma to predict heavy drinking in college students. Am J Med Genet B Neuropsychiatr Genet 171:879-87
Litt, Mark D; Duffy, Valerie; Oncken, Cheryl (2016) Cigarette smoking and electronic cigarette vaping patterns as a function of e-cigarette flavourings. Tob Control 25:ii67-ii72
Rash, Carla J; Burki, Madison; Montezuma-Rusca, Jairo M et al. (2016) A retrospective and prospective analysis of trading sex for drugs or money in women substance abuse treatment patients. Drug Alcohol Depend 162:182-9

Showing the most recent 10 out of 638 publications