Abstract

This subproject is one of many research subprojects utilizing theresources provided by a Center grant funded by NIH/NCRR. The subproject andinvestigator (PI) may have received primary funding from another NIH source,and thus could be represented in other CRISP entries. The institution listed isfor the Center, which is not necessarily the institution for the investigator.Crigler-Najjar syndrome types I and II are autosomal recessively inherited disorders that results in chronic nonhemolytic unconjugated hyperbilirubinemia. These disorders are caused by the presence of genetic lesions within the coding regions of the bilirubin UGT gene (UGT1A1) which completely or partially inactivate the B-UGT enzyme activity. Gilbert syndrome on the other hand is caused by the promoter abnormality of UGT gene (UGT1A1). In normal subjects, the promoter of UGT gene contains the sequence A(TA)6TAA. The Gilbert patients are homozygous for two extra bases (TA) in the promoter region, A(TA)7TAA. The presence of the longer TATAA element resulted in the reduced expression of the enzyme.

  Funding Agency

Agency
National Institute of Health (NIH)
Institute
National Center for Research Resources (NCRR)
Type
General Clinical Research Centers Program (M01)
Project #
5M01RR012248-12
Application #
7717588
Study Section
Special Emphasis Panel (ZRR1-CR-3 (01))
Project Start
2007-12-01
Project End
2008-05-31
Budget Start
2007-12-01
Budget End
2008-05-31
Support Year
12
Fiscal Year
2008
Total Cost
$511
Indirect Cost

  Institution

Name
Albert Einstein College of Medicine
Department
Internal Medicine/Medicine
Type
Schools of Medicine
DUNS #
110521739
City
Bronx
State
NY
Country
United States
Zip Code
10461

  Publications

Ezzati, Ali; Katz, Mindy J; Lipton, Michael L et al. (2016) Hippocampal volume and cingulum bundle fractional anisotropy are independently associated with verbal memory in older adults. Brain Imaging Behav 10:652-9
Huang, Ying; Van Horn, Linda; Tinker, Lesley F et al. (2014) Measurement error corrected sodium and potassium intake estimation using 24-hour urinary excretion. Hypertension 63:238-44
Mossavar-Rahmani, Yasmin; Tinker, Lesley F; Huang, Ying et al. (2013) Factors relating to eating style, social desirability, body image and eating meals at home increase the precision of calibration equations correcting self-report measures of diet using recovery biomarkers: findings from the Women's Health Initiative. Nutr J 12:63
Esterson, Yonah B; Zhang, Kehao; Koppaka, Sudha et al. (2013) Insulin sensitizing and anti-inflammatory effects of thiazolidinediones are heightened in obese patients. J Investig Med 61:1152-60
Prentice, Ross L; Neuhouser, Marian L; Tinker, Lesley F et al. (2013) An exploratory study of respiratory quotient calibration and association with postmenopausal breast cancer. Cancer Epidemiol Biomarkers Prev 22:2374-83
Wylie-Rosett, Judith; Aebersold, Karin; Conlon, Beth et al. (2013) Health effects of low-carbohydrate diets: where should new research go? Curr Diab Rep 13:271-8
Cai, Guiqing; Atzmon, Gil; Naj, Adam C et al. (2012) Evidence against a role for rare ADAM10 mutations in sporadic Alzheimer disease. Neurobiol Aging 33:416-417.e3
Wang, Zhaoming; Parikh, Hemang; Jia, Jinping et al. (2012) Y chromosome haplogroups and prostate cancer in populations of European and Ashkenazi Jewish ancestry. Hum Genet 131:1173-85
Kenny, Eimear E; Pe'er, Itsik; Karban, Amir et al. (2012) A genome-wide scan of Ashkenazi Jewish Crohn's disease suggests novel susceptibility loci. PLoS Genet 8:e1002559
Kehlenbrink, S; Koppaka, S; Martin, M et al. (2012) Elevated NEFA levels impair glucose effectiveness by increasing net hepatic glycogenolysis. Diabetologia 55:3021-8

Showing the most recent 10 out of 150 publications