21. BioMed Central | Abstract | A Mouse Model Of Sitosterolemia: Absence Of Abcg8/st Based upon the genetics of sitosterolemia, ABCG5/sterolin1 and ABCG8/sterolin-2 are Homozygous knockout mice are viable and exhibit sitosterolemia. http://www.biomedcentral.com/1741-7015/2/5/abstract

home journals A-Z subject areas advanced search ... Volume 2 Viewing options Abstract Full text PDF Associated material: Pre-publication history PubMed record Related literature: Articles citing this article on BioMed Central on Google Scholar Other articles by authors ... Similar articles (PubMed) Tools: E-mail to a friend Download references Post a comment Key E-mail Corresponding author Research article A mouse model of sitosterolemia: absence of Abcg8/sterolin-2 results in failure to secrete biliary cholesterol Eric L Klett Kangmo Lu Astrid Kosters Edwin Vink Mi-Hye Lee Michael Altenburg Sarah Shefer Ashok K Batta Hongwei Yu Jianliang Chen Richard Klein Norbert Looije Ronald Oude-Elferink Albert K Groen Nobuyo Maeda Gerald Salen and Shailendra B Patel Division of Endocrinology, Diabetes and Medical Genetics, Medical University of South Carolina, Charleston, SC 29403, USA Department of Experimental Hepatology, AMC Liver Center, Academic Medical Center, Amsterdam 1105 BK, The Netherlands Department of Pathology, School of Medicine, University of North Carolina, Chapel Hill, NC 27599, USA Department of Medicine, UMD-New Jersey Medical School, Newark, NJ 07013, USA

22. Sitosterolemia - Evaluation, Treatment And Research At The National Heart, Lung The National Heart, Lung and Blood Institute is actively seeking patients withsitosterolemia to receive free evaluation and/or treatment in our clinical http://patientrecruitment.nhlbi.nih.gov/Sitosterolemia.aspx

HOME SITE INDEX CONTACT US Patient Recruitment - Sitosterolemia TIPS ADVANCED SEARCH Home Clinical Trials ... Patient Recruitment Research Studies Sitosterolemia Research Study - Treatment with Ezetimibe (SCH-58235) Sitosterolemia Research Study Sitosterolemia Research Study - Treatment with Ezetimibe (SCH-58235) If you have homozygous sitosterolemia, you are invited to participate in a study that will evaluate a new investigation drug that inhibits cholesterol absorption. Ezetimibe (SCH-58235) reduces plant sterol concentrations in patients with sitosterolemia with short term treatment. Ezetimibe was well tolerated in these patients. The long term safety and benefit is being evaluated in this one year study. Sitosterolemia should be suspected in children with hypercholesterolemia, tuberous and tendinous xanthomas, recurrent arthritis and an unusually good improvement in cholesterol levels due to diet and a bile acid resin binder. Eligible persons will undergo a comprehensive evaluation. All patients will remain under the care of their own physician who will receive results of the laboratory and diagnostic tests. In most cases, you will be invited back for yearly evaluations related to other studies. There is no cost to you for travel, medical testing or the ezetimibe. For further information please contact our research coordinator (tel. 301-496-1500, e-mail:

23. Sitosterolemia sitosterolemia drug treatment. Drugs related to sitosterolemia. ezetimibe (consumerinformation) Vytorin 10/10 Tablets (professional information) http://browse.drugs.com/cond-sitosterolemia.html

Advanced Search Or click the first letter of a drug name: A B C D ... Z Browsing results for Sitosterolemia A B C D ... Z Drugs related to Sitosterolemia ezetimibe (consumer information) Vytorin 10/10 Tablets (professional information) Vytorin 10/20 Tablets (professional information) Vytorin 10/40 Tablets (professional information) Vytorin 10/80 Tablets (professional information) Zetia (consumer information) Home Drug Interactions Pill Identification Question.com ... About Drugs.com The drugs.com drug database is powered by Micromedex TM and Multum TM Micromedex data last updated 5 August 2005. Micromedex Physicians Desk Reference data last updated 18 July 2005. Multum data last updated 15 August 2005. We subscribe to the HONcode principles. Verify here Most Popular Drug Searches: Abilify Acetaminophen Aciphex Adderall ... Forum Drugs.com - prescription drug and medicine information available on over 24,000 approved- medications and pharmaceuticals, including side effects and drug interactions. Log-in Register Advertisement Buy a Link Now From our sponsors Categories Diabetes Gastro Center Weight Loss AIDS/HIV ... Sexual Health Advertisement Popular Searches Viagra Cialis Levitra Lipitor ... Pain Relief Advertisement

24. Clinical Trial: Higher-Dose Ezetimibe To Treat Homozygous Sitosterolemia Patients with homozygous sitosterolemia who are between 18 and 85 years of Current treatment of homozygous sitosterolemia consists of ezetimibe 10 mg, http://www.clinicaltrials.gov/ct/gui/show/NCT00099996

Home Search Browse Resources ... About Higher-Dose Ezetimibe to Treat Homozygous Sitosterolemia This study is currently recruiting patients. Verified by National Institutes of Health Clinical Center (CC) December 14, 2004 Sponsored by: National Heart, Lung, and Blood Institute (NHLBI) Information provided by: National Institutes of Health Clinical Center (CC) ClinicalTrials.gov Identifier: Purpose This study will test the safety and effectiveness of 40 mg of ezetimibe (Zetia ) daily in lowering blood levels of cholesterol and of the plant sterols sitosterol and campesterol in patients with homozygous sitosterolemia, an inherited disorder of sterol metabolism. (Sterols are alcohol substances found in animal and plant fats.) In this disorder, an excess of many plant sterols is absorbed and not enough excreted. Patients can develop atherosclerosis and coronary heart disease as early as childhood, as well as other problems including arthritis, arthralgia, and tendon xanthomas (lipid deposits). Current treatment consists of ezetimibe 10 mg, dietary restriction of plant and shellfish sterols, and bile salt binding resins. Ezetimibe is a cholesterol-lowering drug that inhibits intestinal absorption of cholesterol and structurally related plant sterols across the intestinal wall. Patients with homozygous sitosterolemia who are between 18 and 85 years of age have completed NHLBI's 1-year study of ezetimibe at 10 mg a day may be eligible for this study.

25. ClinicalTrials.gov - Information On Clinical Trials And Human Research Studies: Recruiting, HigherDose Ezetimibe to Treat Homozygous sitosterolemia ConditionsHeart Diseases; Metabolism, Inborn Errors http://www.clinicaltrials.gov/ct/screen/BrowseAny?path=/browse/by-condition/az/S

26. Applied Genetics News: Sitosterolemia Genes Discovered Full text of the article, sitosterolemia Genes Discovered from Applied GeneticsNews, a publication in the field of Health Fitness, is provided free of http://www.findarticles.com/p/articles/mi_m0DED/is_5_21/ai_68655482

@import url(/css/us/style1.css); @import url(/css/us/searchResult1.css); @import url(/css/us/articles.css); @import url(/css/us/artHome1.css); Advanced Search Home Help IN free articles only all articles this publication Automotive Sports 10,000,000 articles - not found on any other search engine. FindArticles Applied Genetics News Dec 2000 Content provided in partnership with 10,000,000 articles Not found on any other search engine. Featured Titles for AAACN Viewpoint ABNF Journal, The AIDS Treatment News AMAA Journal ... View all titles in this topic Hot New Articles by Topic Automotive Sports Top Articles Ever by Topic Automotive Sports Sitosterolemia Genes Discovered Applied Genetics News Dec, 2000 Save a personal copy of this article and quickly find it again with Furl.net. It's free! Save it. Tularik, Inc. (Two Corporate Dr., South San Francisco, CA 94080; Tel: 650/825-7000, Fax: 650/825-7303; Website: www.tularik.com) researchers, working in collaboration with scientists from the University of Texas Southwestern Medical Center, have discovered two genes responsible for a rare human genetic disorder called sitosterolemia. Patients with sitosterolemia have excessive absorption and inadequate excretion into the bile, which results in dangerously high cholesterol levels. The discovery of the sitosterolemia genes was reported in the December 1 issue of Science. The newly discovered genes encode two previously unknown protein molecules that are members of the class of ATP-binding cassette (ABC) transporter proteins. The proteins, ABCG5 and ABCG8, bind cholesterol in the liver and small intestine. In the intestines, the proteins block absorption of dietary cholesterol. In the liver, the proteins help excrete cholesterol into bile.

27. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Nutrition_and_Meta sitosterolemia A press release with a brief explanation of this disease.sitosterolemia - An article about this uncommon genetic lipid disorder and the http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Nutrition_a

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Cholesterol and Other Fats : Sitosterolemia Subtopics Search Google: Sitosterolemia News Books Links ... Search For Cholesterol Absorption Genes Narrows To Two Chromosome Regions (December 6, 2002) full story UT Southwestern Researchers Find Gene For Inherited Form Of High Cholesterol (April 30, 2001) full story Scientists Closer To Locating Gene That May Explain Cholesterol Absorption (September 4, 1998) full story [ More news about Sitosterolemia Error: We did not find any matches for your request. [ More books about Sitosterolemia Sitosterolemia - A press release with a brief explanation of this disease. Sitosterolemia - An article about this uncommon genetic lipid disorder and the gene that is responsible for it. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Can't find it? Try searching Science Daily or the entire web with: Web sciencedaily.com

28. Phenotypic Heterogeneity Of Sitosterolemia -- Wang Et Al. 45 (12): 2361 -- Journ sitosterolemia is a rare autosomal recessive disorder of lipoprotein metabolism These findings extend the range of clinical phenotypes in sitosterolemia http://www.jlr.org/cgi/content/abstract/45/12/2361

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: Originally published In Press as doi:10.1194/jlr.M400310-JLR200 on September 16, 2004 This Article Full Text Full Text (PDF) All Versions of this Article: most recent Purchase Article View Shopping Cart Alert me when this article is cited Alert me if a correction is posted ... Citation Map Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager PubMed PubMed Citation Articles by Wang, J. Articles by Hegele, R. A. Journal of Lipid Research, Vol. 45, 2361-2367, December 2004 American Society for Biochemistry and Molecular Biology Phenotypic heterogeneity of sitosterolemia Jian Wang Tisha Joy David Mymin Jiri Frohlich and Robert A. Hegele Robarts Research Institute and University of Western Ontario, London, Ontario, Canada University of Manitoba, Winnipeg, Manitoba, Canada St. Paul's Hospital and University of British Columbia, Vancouver, British Columbia, Canada To whom correspondence should be addressed. e-mail:

29. Increased Plasma Plant Sterol Levels In Heterozygotes With Sitosterolemia And Xa Plasma sterol levels in a family of sitosterolemia and xanthomatosis sitosterolemia exclusion of genes involved in reduced cholesterol biosynthesis http://www.jlr.org/cgi/content/abstract/31/5/881

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text (PDF) Purchase Article View Shopping Cart ... Citation Map Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by Hidaka, H. Articles by Tamura, A. ARTICLES Increased plasma plant sterol levels in heterozygotes with sitosterolemia and xanthomatosis H Hidaka, T Nakamura, T Aoki, H Kojima, Y Nakajima, K Kosugi, I Hatanaka, M Harada, M Kobayashi and A Tamura Third Department of Medicine, Shiga University of Medical Science, Japan. Plasma sterol levels in a family of sitosterolemia and xanthomatosis were determined by a high performance liquid chromatography. Three affected siblings manifested marked xanthomatosis including subcutaneous soft tissues and generalized atherosclerosis. Two other siblings as well as children of the patients did not show such clinical symptoms and signs.

30. Investigating Cholesterol Scientists identify genes linked to sitosterolemia; study finds influence of sitosterolemia patients have elevated levels of cholesterol in blood and http://www.genomenewsnetwork.org/articles/01_01/Sitosterolemia.shtml

Home About Topics Investigating cholesterol Scientists identify genes linked to sitosterolemia; study finds influence of familial traits on response to diet By Edward R. Winstead January 16, 2001 Two groups of researchers have identified genes that may cause sitosterolemia, an uncommon genetic cholesterol disorder. The disorder is due to defects in cells that distinguish and selectively eliminate different types of dietary cholesterol. Sitosterolemia patients have elevated levels of cholesterol in blood and accumulate plant 'sterols' in tissues, putting them at risk for heart disease at an early age. (The primary plant sterol is sitosterol; hence the name, sitosterolemia.) Shailendra B. Patel, of the Medical University of South Carolina, in Charleston, and colleagues report this month that nine unrelated individuals with sitosterolemia have defects in the gene. Patel's group hypothesizes that the gene is important in the regulation of cholesterol absorption, a process that has long been a mystery in the lipid metabolism field. The findings appear in

31. Webcast/CME - Sitosterolemia: A Rare Genetic Disorder Leads To Insight Into An I This multimedia webcast reviews webcast reviews the mechanisms involved incholesterol and other st. http://www.docguide.com/news/content.nsf/webcast/05B0A1668606C9F185256E63006F18D

document.domain = 'docguide.com'; var baseDomain = 'http://peerviewpress.docguide.com'; var fcPageType = 'PE'; var distType = ''; var distNumber = ''; Unregistered User Click here if this is not your Personal Edition Contact Us Free E-Mail Updates Journals ... Register a colleague Select a Channel Acne Addictions AIDS and HIV Allergy Other Alzheimer's Anaemia Anaesthesiology Other Angina Pectoris/MI Anxiety Arthritis Other Asthma Back Pain Bacterial Infections Bladder Cancer Bone Marrow and PBSC Transplantation Breast Cancer Burns Cardiology Other Cataract Cervical Cancer Cholesterol/Lipid Disorders Cirrhosis Clinical Pharmacology Colorectal Cancer Congestive Heart Failure Contraception Cornea COPD Cystic Fibrosis Dental and Oral Disorders Depression Dermatitis Dermatology Other Diabetes Diagnostic Radiology Dialysis Eating Disorders Elbow Emergency Medicine Endocrinology Other Epilepsy Erectile Dysfunction Fibromyalgia Gastro Other Genetics Genitourinary Other Geriatrics GERD/Gastritis GIST Glaucoma H. Pylori/Ulcer Haematology Other Hair Loss Head and Neck Cancer Hepa/Biliary Other Hepatitis C Hepatitis Other Herpes Hip HRT Hypertension IBD Immunology Infectious Other Infertility Intensive Care Interventional Cardiology Interventional Radiology Irritable Bowel Syndrome Knee Leukaemias Liver Cancer Lung Cancer Lupus Lymphomas Melanoma Menopause Migraine Multiple Sclerosis Mycoses Myelodysplastic Syndrome Nephrology Other Neurologic Other Nuclear Medicine Nutritional / Metabolic Other Ob/Gyn Other Obesity Oncology Other Ophth. Other

32. Response To Diet And Cholestyramine In A Patient With Sitosterolemia -- Belamari These findings show that the diagnosis of sitosterolemia should be suspected Downregulation of cholesterol biosynthesis in sitosterolemia diminished http://pediatrics.aappublications.org/cgi/content/abstract/86/6/977

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article P Rs: Submit a response Alert me when this article is cited Alert me when P ... Citation Map Services E-mail this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Belamarich, P. F. Articles by Salen, G. Response to diet and cholestyramine in a patient with sitosterolemia PF Belamarich, RJ Deckelbaum, TJ Starc, BE Dobrin, GS Tint and G Salen Dept of Pediatrics, Columbia University College of Physicians and Surgeons, New York, NY 10032. In this report, an 11-year-old boy with diffuse tendinous and tuberous xanthomatosis and a plasma sterol concentration of 555 mg/dL, consisting primarily of cholesterol, is described. Three months after changing from an unrestricted diet to a cholesterol-lowering diet, his plasma sterol concentration decreased to 221 mg/dL. Because of the degree and rapidity of his response to diet, sitosterolemia was suspected. According to results of

33. Title sitosterolemia is a rare, recessively inherited disease characterized clin.by accelerated atherosclerosis and xanthomas and biochem. by hyperabsorption and http://www.ncl.ac.uk/medplant/about_mprc/My Webs/principals/sitosterols/sitoster

Title Macrophage 3-hydroxy-3-methylglutaryl coenzyme A reductase activity in sitosterolemia: effects of increased cellular cholesterol and sitosterol concentrations. Author Nguyen, Lien B.; Salen, Gerald; Shefer, Sarah; Tint, G. Stephen; Ruiz, Frank. Place Department of Medicine, Division of Gastroenterology and Liver Center, New Jersey Medical School, University of Medicine and Dentistry of New Jersey, Newark, NJ, USA. Source Metabolism, Clinical and Experimental CODEN: METAAJ ISSN Journal written in English. Abstract Sitosterolemia is a rare, recessively inherited disease characterized clin. by accelerated atherosclerosis and xanthomas and biochem. by hyperabsorption and retention of sitosterol and other plant sterols in tissues. Decreased cholesterol biosynthesis and inhibition of 3-hydroxy-3-methylgluratyl CoA (HMG-CoA) reductase and other enzymes in the biosynthetic pathway have been assocd. with enhanced low-d. lipoprotein (LDL) receptor function. We examd. the effects of cholesterol and sitosterol on sterol concns. and compn.

34. SIERE (Sistema De Información Sobre Enfermedades Raras En Español) Translate this page sitosterolemia, Instituto de Salud Carlos III La sitosterolemia, se debe ala presencia de mutaciones en estos genes, dando lugar a una alteración en http://iier.isciii.es/er/prg/er_bus2.asp?cod_enf=2953

35. β-Sitosterolemia And Xanthomatosis Besides ßsitosterolemia and xanthomatosis, no other physical, mental, The occurrence of ß-sitosterolemia in these two sisters with un-affected parents http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=4360855

36. A Molecular Defect In Hepatic Cholesterol Biosynthesis In Sitosterolemia With Xa Betasitosterolemia and xanthomatosis. N Engl J Med. Decreased cholesterolbiosynthesis in sitosterolemia with xanthomatosis diminished mononuclear http://www.pubmedcentral.nih.gov/articlerender.fcgi?tool=pubmed&pubmedid=2394840

37. Science -- Sign In (B) The mutations detected in patients with sitosterolemia (Table 1) are indicatedon a schematic model of ABCG5 (left) and ABCG8 (right). http://www.sciencemag.org/cgi/content/full/290/5497/1771/F1

You do not have access to this item: Full Text : Science You are on the site via Free Public Access. What content can I view with Free Public Access If you have a personal user name and password, please login below. SCIENCE Online Sign In Options For Viewing This Content User Name Password this computer. Help with Sign In If you don't use cookies, sign in here Join AAAS and subscribe to Science for free full access. Sign Up More Info Register for Free Partial Access including abstracts, summaries and special registered free full text content. Register More Info Need More Help? Can't get past this page? Forgotten your user name or password? AAAS Members activate your FREE Subscription

38. Science -- Sign In Science Careers Biotechnology Jobs, Molecular Biology Jobs, Cancer Research Jobs.Institution Google Indexer Sign In as Individual FAQ Access http://www.sciencemag.org/cgi/content/full/290/5497/1771/F2

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39. A Mouse Model Of Sitosterolemia: Absence Of Abcg8/sterolin-2 Results In Failure Abstract Background Mutations in either of two genes comprising the STSL locus,ATPbinding cassette (ABC)-transporters ABCG5 (encoding sterolin-1) and http://bmc.ub.uni-potsdam.de/cgi-bin/show.pl?1741-7015-2-5

40. A Mouse Model Of Sitosterolemia: Absence Of Abcg8/sterolin-2 Results In Failure Translate this page http://bmc.ub.uni-potsdam.de/1741-7015-2-5/

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