Nature Publishing Group In sitosterolemia, a rare autosomal recessive disorder, affected individuals hyperabsorb not only cholesterol but also all other sterols, including plant and http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v27/n1/full/ng0101_7
Sitosterolemia : Meddie Health Search GeneCard for ABCG5 to OMIM, SWISSPROT/TrEMBL, Genatlas, GeneTests, HGMD, GAD, BCGD, and/or TGDB.), OMIM ID 605459 search databases for MIM named disorders sitosterolemia http://www.meddie.com/Conditions_and_Diseases/Nutrition_and_Metabolism_Disorders
GeneCard For ABCG8 search databases for MIM named disorders sitosterolemia. SWISSPROT ABG8_HUMAN Disease Defects in ABCG8 are a cause of sitosterolemia, also known as http://www6.unito.it/cgi-bin/cards/carddisp?ABCG8
GeneCard For ABCG5 search databases for MIM named disorders sitosterolemia. SWISSPROT ABG5_HUMAN Disease Defects in ABCG5 are a cause of sitosterolemia, also known as http://www6.unito.it/cgi-bin/cards/carddisp?ABCG5
GeneCard For ABCG8 to OMIM, SWISSPROT/TrEMBL, Genatlas, GeneTests, HGMD, GAD, BCGD, and/or TGDB.), OMIM ID 605460 search databases for MIM named disorders sitosterolemia http://bioinfo.cnio.es/cgi-bin/db/genecards/carddisp?ABCG8
Extractions: D. Roncari Department of Pediatrics, Alberta Children's Hospital and Faculty of Medicine, University of Calgary; Department of Internal Medicine, Foothills Hospital, Calgary, Alberta (Original manuscript submitted 26/7/94; received in revised form 18/5/95; accepted 25/5/95) Clin Invest Med Table of contents: CIM vol. 18, no. 5
Novel Receptors And Their Functions Define Pathways Of Lipid in the splanchnic handling of animalderived sterols (eg, cholesterol) vs plant-derived sterols (eg, sitosterol) and of an unusual illness, sitosterolemia. http://www.medscape.com/viewarticle/459766
Online CME Evidence from patients with the rare condition sitosterolemia suggests that high levels of phytosterols are associated with an increased risk of CAD. http://www.cme.uab.edu/onlinecourses/hyperlipidemia_treatment/ID0188.html
GeneCard For ABCG8 search databases for MIM named disorders sitosterolemia. SWISSPROT ABG8_HUMAN Disease defects in abcg8 are a cause of sitosterolemia mim 210250; also http://bioinformatics.postech.ac.kr/cgi-bin/cards/carddisp?ABCG8
NHLBI Rare Diseases Report, 2001 Betasitosterolemia Beta sterols. Patients with beta-sitosterolemia have a markedly increased risk of premature cardiovascular disease. http://www.nhlbi.nih.gov/resources/docs/raredisrpt01.htm
Extractions: NHLBI provides leadership for a national program in the causes, diagnosis, treatment, and prevention of diseases of the heart, blood vessels, lungs, and blood, and sleep disorders, and in the uses of blood and the management of blood resources. It conducts and supports, through research in its own laboratories and through extramural research grants and contracts, an integrated and coordinated program that includes basic investigations, clinical trials, epidemiological studies, and demonstration and education projects. Although the major part of the research supported by NHLBI addresses common conditions such as hypertension, coronary heart disease, and chronic obstructive pulmonary disease, a significant amount of research is devoted to rare diseases in children and adults. NHLBI activities related to rare disease research in fiscal year (FY) 2001 are described below.
Extractions: Prof. Dr. Gerd Assmann Foto: UKM 1 Hubacek JA, Berge KE, Cohen JC, Hobbs HH. Mutations in ATP-cassette binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. Hum Mutat. 2001;18:359-360. 2 Bhattacharyya AK, Connor WE. Beta-sitosterolemia and xanthomatosis. A newly described lipid storage disease in two sisters. J Clin Invest.
PR Newswire - A United Business Media Company Translate this page binding proteins G5 (ABCG5) and G8 (ABCG8) causing sitosterolemia. Hum.Mutat. (3) Bhattacharyya AK, Connor, WE beta-sitosterolemia and xanthomatosis. http://www.prnewswire.co.uk/cgi/news/release?id=111615
