61. Current Opinion In Lipidology - Abstract: Volume 12(2) April 2001 P 141-149 Gene In sitosterolemia, a rare autosomal recessive disorder, affected individualshyperabsorb and retain not only cholesterol but also all other sterols, http://www.co-lipidology.com/pt/re/colipidology/abstract.00041433-200104000-0000

LWWOnline LOGIN eALERTS REGISTER ... Archive Genetic basis of sitosterolemia. ARTICLE LINKS: Fulltext PDF (164 K) Permissions Genetic basis of sitosterolemia. Current Opinion in Lipidology. 12(2):141-149, April 2001. Lee, Mi-Hye; Lu, Kangmo; Patel, Shailesh B. Abstract: Subscribe to RSS feed utrdc-pt02 Release 4.0

62. Current Opinion In Lipidology - UserLogin sitosterolemia was mapped to the sitosterolemia (STSL) locus on human chromosome Betasitosterolemia and xanthomatosis a newly described lipid storage http://www.co-lipidology.com/pt/re/colipidology/fulltext.00041433-200308000-0000

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63. (2001 Spring) Key Players In Cholesterol Absorption Uncovered By UT Southwestern The disorder, sitosterolemia, is characterized by hyperabsorption of cholesterol and In people with sitosterolemia, these sterols, like cholesterol, http://www8.utsouthwestern.edu/utsw/cda/dept27717/files/153507.html

Advanced Search document.write(hashTable['Home'].parentMenu) Home Research Center for Human Nutrition (2001 Spring) Key Players In Cholesterol Absorption Uncovered By UT Southwestern Researchers Home About the Center Facilities Research ... CHN Newsletters process by which the body regulatescholesterol and other sterols from the diet. It also provides new insights into the way the body acquires and gets rid of cholesterol and other sterols. The disorder, sitosterolemia, is characterized by hyperabsorption of cholesterol and plant sterols. This leads to an excessive presence of cholesterol in the blood, which ultimately causes premature heart disease. "The main benefit of this study is that we identified a key protein in two very poorly understood pathwaysthe mechanisms by which cholesterol and other sterols are secreted into the bile," said Dr. Helen Hobbs, professor of internal medicine and molecular genetics and senior author of the study. "Now we have a handle on one of the key players in cholesterol absorption." she said. Until this discovery, which was published in Science , the key proteins involved in the regulation of cholesterol absorption and its secretion into the bile were not known, said Dr. Hobbs, director of the Eugene McDermott Center for Human Growth and Development.

64. Dr. Hobbs , Dr. Helen Hobbs, Dr. Helen Haskell Hobbs sitosterolemia is due to mutations in two coordinately regulated genes, ABCG5and ABCG8, which encode proteins that play crucial roles in the uptake and http://www8.utsouthwestern.edu/findfac/research/0,2357,13232,00.html

Advanced Search document.write(hashTable['Home'].parentMenu) //Second level child document.write(hashTable['Faculty Directory'].subMenu) Home Helen Hobbs Search for Faculty Search for Doctor Faculty Research Interests Search Help Helen Hobbs, M.D. Details of Research Name: Helen Haskell Hobbs, M.D. Endowed Title: Eugene McDermott Distinguished Chair for the Study of Human Growth and Development 1995 Dallas Heart Ball Chair in Cardiology Research Academic Title: Professor Administrative Title: Investigator, Howard Hughes Medical Institute; Center Director, Internal Medicine Molecular Genetics Primary Appointment: Eugene McDermott Center For Growth and Development Secondary Appointment: Internal Medicine - Clinical Genetics School: Southwestern Medical School Graduate School of Biomedical Sciences Degree Program: Genetics and Development MSTP Non-degree Program: SURF STARS Affiliations: Internal Medicine Howard Hughes Medical Institute Department Website: Center for Human Genetics Lab Website: Hobbs Lab Email: Helen Hobbs, M.D.

65. All Showcase - Sitosterolemia PDF ABC Transporters and Sterol Absorption http://www.allshowcase.com/Health_and_Fitness/Conditions_and_Diseases/S/Sitoster

All Showcase Sitosterolemia List of Sitosterolemia information, links and web resources. Discount Shopping Collectibles Coupons Clickbank ... Advertise Search for: All Showcase This Category Calendars Nutritional Supplements Musical Instruments Fiber Optics ... S » Sitosterolemia Aktiv Search Web News Shopping ... Images Sitosterolemia All Showcase Sitosterolemia An article about this uncommon genetic lipid disorder and the gene that is responsible for it. Top Listing to Business Affiliate about business mlm debt loans ... shop Find Amazon products about Sitosterolemia Books, magazines, music, softwares, video, DVD... about Sitosterolemia Search Amazon.co.uk about Sitosterolemia Best Audible Products Digital Audio Entertainment Mach90 Juvio Associate ... Online Shopping Directory Search on Sitosterolemia on: Juvio - Solutions for Life AlltheWeb Ask Gigablast ... Yahoo Search for: All Showcase This Category Discount Hotel Resort - Hotels and Beach Resorts Online Reservations Weather structured settlement Debt Consolidation ... Satellite TV www.satellitesolutions.com - get a high definition direct tv satellite system. Cheap Discount Hotels Africa Arctic Asia ... Popular Sites Maintained by: Aktiv Performance Marketing, Inc.

66. ABCG8 - ATP-binding Cassette, Sub-family G, Member 8 The ABCG5 and ABCG8 transporters, defective in betasitosterolemia, The rolesof polymorphisms of the sitosterolemia genes ABCG5 and ABCG8 in the http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/102055.html

In polarized WIF-B cells, recombinant localized to the apical (canalicular) membrane when coexpressed with , but not when expressed alone. Abstract-9543914 High-level expression of and attenuates diet- induced hypercholesterolemia and atherosclerosis in Ldlr -/- mice. Abstract-10519966 Here we demonstrate that the and genes are direct targets of the oxysterol receptors liver X receptor ( LXR ) alpha and LXRbeta Abstract-9163072 We found no differences in hepatic expression of the ATP binding cassette transporter genes Mdr2, Bsep ( bile salt export pump), and (implicated in cholesterol transport), the bile salt-uptake systems Ntcp (Na(+)-taurocholate co- transporting polypeptide gene) and (organic anion- transporting polypeptide 1 gene) or in bile formation between wild-type and Ppar alpha ((-/-)) mice. Abstract-9658385 Human gallbladder cDNA expressed message for and Abstract-9815038 Biliary cholesterol secretion by the twinned sterol half-transporters and Abstract-9543907 Mutations in the human ATP-binding cassette transporters and in sitosterolemia.

67. Abcg8 - ATP-binding Cassette, Sub-family G, Member 8 Mutations in ABCG5 (G5) or ABCG8 (G8) cause sitosterolemia, an autosomal In patients with sitosterolemia, mutations in either of two ATPbinding http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/133681.html

In polarized WIF-B cells, recombinant localized to the apical (canalicular) membrane when coexpressed with , but not when expressed alone. Abstract-9543914 High-level expression of and attenuates diet- induced hypercholesterolemia and atherosclerosis in Ldlr -/- mice. Abstract-10519966 Here we demonstrate that the and genes are direct targets of the oxysterol receptors liver X receptor ( LXR ) alpha and LXRbeta Abstract-9163072 We found no differences in hepatic expression of the ATP binding cassette transporter genes Mdr2, Bsep ( bile salt export pump), and (implicated in cholesterol transport), the bile salt-uptake systems Ntcp (Na(+)-taurocholate co- transporting polypeptide gene) and (organic anion- transporting polypeptide 1 gene) or in bile formation between wild-type and Ppar alpha ((-/-)) mice. Abstract-9658385 We report here the mouse cDNAs and genomic organization of and Abstract-9199858 Cultured murine GBEC also expressed and mRNA and protein, as did cultured canine GBEC.

68. Sitosterolemia - Talk Medical Identification of a gene, ABCG5, important in the regulation of In sitosterolemia, a rare autosomal recessive disorder, affected individualshyperabsorb not Mutational analyses in ABCG5 in sitosterolemia probands. http://www.talkmedical.com/medical-dictionary/13054/Sitosterolemia

Home Medications Medical Dictionary Talk Medical ... Medical Dictionary Newsletter Subscribe to the free monthly health digest. Relevant health articles just for you. Tell a friend Sitosterolemia Sitosterolemia: A genetic disease involving lipids (fats) in which there is excessive intestinal absorption of dietary sterols and impaired clearance of these sterols from the liver into the bile. These sterols include cholesterol and the plant sterol sitosterol (from which comes the name of the disease). Patients with the disease have abnormally high blood levels of sterols and a tendency to develop coronary artery disease at an unusually early age (in the teens). The high blood fat levels also lead to abnormal red blood cells (causing chronic anemia) and fatty deposits (xanthomas) on tendons. Sitosterolemia is inherited as a rare autosomal recessive condition. It affects males and females alike. It is caused by mutations in ABCG5 and ABCG8, two adjacent and oppositely oriented genes located in chromosome 2 in band 2p21. These two genes, ABCG5 and ABCG8, encode proteins with homology (similarity) to genes known as the "ATP binding cassette (ABC) transporters" which are also involved in cholesterol transport. The disorder is treated by strictly limiting cholesterol in the diet, reducing the intake of foods rich in plant sterols (e.g., vegetable oils) and giving cholestyramine resin to promote sterol excretion from the body.

69. A Transmission Disequilibrium Test For General Pedigrees That Is Robust To The P our method to two data sets from actual diseases psoriasis and sitosterolemia . and the sitosterolemia results show a Pvalue of 1.5 ´ 10-9 for the http://www.nature.com/doifinder/10.1038/sj.ejhg.5201219

NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help SEARCH my account e-alerts subscribe register ... Site features NPG Subject areas Access material from all our publications in your subject area: Biotechnology Cancer Chemistry NEW! Dentistry Development Drug Discovery Earth Sciences ... Physics September 2004, Volume 12, Number 9, Pages 752-761 Table of contents Previous Next Full text ... PDF Article A transmission disequilibrium test for general pedigrees that is robust to the presence of random genotyping errors and any number of untyped parents Derek Gordon , Chad Haynes , Christopher Johnnidis , Shailendra B Patel , Anne M Bowcock Laboratory of Statistical Genetics, Rockefeller University, Box 192, 1230 York Avenue, New York, NY 10021, USA Division of Endocrinology, Diabetes and Medical Genetics, Medical University of South Carolina, Charleston, SC 29403, USA Department of Genetics, Washington University School of Medicine, St Louis, MO 63110, USA Correspondence to: Dr D Gordon, Tel: +1 212 327 7987; Fax: +1 212 327 7996; E-mail: gordon@linkage.rockefeller.edu

70. Explore HGNC Transport Nomenclature: ABCG8 Accumulation of dietary cholesterol in sitosterolemia caused by mutations A striking exception occurs in sitosterolemia, an autosomal recessive disorder http://www.tcdb.org/hgnc_explore3.php?symbol=ABCG8

71. Directory Of Open Access Journals Title, A mouse model of sitosterolemia absence of Abcg8/sterolin2 results infailure Based upon the genetics of sitosterolemia, ABCG5/sterolin-1 and http://www.doaj.org/abstract?id=83892&toc=y

72. Directory Of Open Access Journals respectively) have been shown to be responsible for causing sitosterolemia inhumans. mechanisms involved in the human disease of sitosterolemia. http://www.doaj.org/abstract?id=82260&toc=y

73. Treatment Methods Patent 0003 sitosterolemia is a genetic lipid storage disorder characterized by increased 0006 An improved treatment for sitosterolemia is needed which can http://www.freshpatents.com/Treatment-methods-dt20050414ptan20050080071.php

Monitor Patents - Treatment methods Title/Abstract Agents Agents by City Apps by Location FreshPatents Search A FREE service from FreshPatents... PATENT KEYWORD MONITOR 3 steps to Unlock the Secrets of new technologies before competitors, co-workers or other inventors! Sign up (takes 30 seconds). Fill in the keywords to be monitored. 3. Each week you receive an email with patent applications related to your keywords. Start now! Browse Patent Applications: Prev Next USPTO Class 514 Treatment methods The present invention is directed to the use of sterol absorption inhibiting compounds, pharmaceutical compositions thereof, therapeutic combinations and their use in combination with other lipid lowering agents to treat or prevent sitosterolemia and/or to lower the concentration of sterol(s) other than cholesterol in plasma or tissue of a mammal. Methods of treating or preventing vascular disease and coronary events also are provided. Agent: Schering-plough Corporation Patent Department (k-6-1, 1990) - Kenilworth, NJ, US Inventor: Harry R. Davis

74. Lipids In Health And Disease | Full Text | The Pivotal Role Of Cholesterol Absor In patients suffering from Homozygous sitosterolemia, as adjunctive therapy sitosterolemia is a rare inherited disorder caused by mutation in either the http://www.lipidworld.com/content/3/1/22

Home Browse articles Search Weblinks ... Volume 3 Viewing options Abstract Full text PDF Associated material: PubMed record Related literature: Articles citing this article on Google Scholar Other articles by authors Al-Shaer MH ... Similar articles (PubMed) Tools: E-mail to a friend Download references Post a comment Key E-mail Corresponding author Review The pivotal role of cholesterol absorption inhibitors in the management of dyslipidemia Moutasim H Al-Shaer Nabil E Choueiri and Ehab S Suleiman Department of Internal Medicine, and Human Cardiovascular Physiology Laboratory University of Iowa College of Medicine Iowa City, Iowa 52242-1009, USA Lipids in Health and Disease The electronic version of this article is the complete one and can be found online at: http://www.lipidworld.com/content/3/1/22 Received Accepted Published This is an open-access article distributed under the terms of the Creative Commons Attribution License ( http://creativecommons.org/licenses/by/2.0 ), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. Keywords: Ezetimibe, Zetia, Cholesterol Absorption Inhibitors, Dyslipidemia, Hyperlipidemia, Hypercholesterolemia, Atherosclerosis, Sitosterolemia, Pleiotropic Effects of Statins, homozygous familial hypercholesterolemia

75. Online CME Evidence from patients with the rare condition sitosterolemia suggests that Patients with sitosterolemia have levels of phytosterols of 2501560 µM, http://www-cme.erep.uab.edu/onlineCourses/hyperlipidemia_treatment/ID0188.html

HIGHLIGHTS IN HYPERLIPIDEMIA TREATMENT Selected Reports from American College of Cardiology 53rd Annual Scientific Session New Orleans, Louisiana, March 7-10, 2004 Certified for 1 Category 1 AMA Credit Sponsored by the University of Alabama School of Medicine Division of Continuing Medical Education Release Date: March 26, 2004 Expiration Date: March 26, 2005 Target Audience Objectives Faculty CME Participation ... Self-Assessment Test TARGET AUDIENCE: Primary care professionals. OBJECTIVES: Upon completion of this CME online course, participants should be better able to: Discuss the impact of recent clinical studies on future guidelines, therapeutic goals and clinical practice Consider the future role of combination therapy in achieving therapeutic goals in lipid management Top of Page FACULTY: Christie M. Ballantyne, MD

76. Events At The New York Academy Of Sciences genetic causes for diseases such as sitosterolemia and Tangiers have advanced ameliorates both hypercholesterolemia and sitosterolemia in humans. http://www.nyas.org/events/eventDetail.asp?eventID=154&date=3/30/2004 1:00:00 PM

77. FALK 2004 sitosterolemia IN ABCG5NULL MICE IS AGGRAVATED UPON ACTIVATION OF THE LIVERX-RECEPTOR. Torsten Plösch1, Vincent W. Bloks1, Yuko Terasawa2, Sara Berdy2, http://www.rug.nl/umcg/faculteit/disciplinegroepen/kindergeneeskunde/liverdigest

Geavanceerd zoeken english site-info contact ... login Informatie voor... Studenten Medewerkers Postdocs en Senior Onderzoekers AIO's Alumni Studiekiezers Informatie voor... Nieuws UMCG nieuws Promoties en Oraties UMCG RUG nieuws Polsslag Triakel Universiteitskrant (UK) Nieuws Onderwijs Over onderwijs Opleidingen Onderwijsinstituut Internationalisering NESTOR, de elektronische leeromgeving Ga direct naar.... Onderwijs Onderzoek Over onderzoek Onderzoekscholen Interfacultaire Instituten Bureau Onderzoek Financieringsmogelijkheden Internationale projecten Commissies Publicaties Wetenschapswinkel Onderzoek Faculteit Faculteit Faculteitsbureau Bestuur en commissies Disciplinegroepen Adresgegevens en openingstijden Faculteit Bibliotheek Welkom Nieuws Informatie Collectie Elektronische collectie Cursussen Instructie/Handleidingen Bibliotheek Vacatures Algemene informatie Vacatures bij het UMCG Vacatures bij de Rijksuniversiteit Groningen Academic Transfer Noorderlink UMCG Tenure Track: loopbaanperspectief voor onderzoekstalent Vacatures Home RUG Home UMCG Faculteit ... Liver, Digestive and Metabolic Diseases

78. ELC 2003 sitosterolemia in ABCG5null mice is aggravated upon activation of the liverX-receptor LXR. Torsten Plösch1, Vincent W. Bloks1, Yuko Terasawa2, http://www.rug.nl/umcg/faculteit/disciplinegroepen/kindergeneeskunde/liverdigest

Geavanceerd zoeken english site-info contact ... login Informatie voor... Studenten Medewerkers Postdocs en Senior Onderzoekers AIO's Alumni Studiekiezers Informatie voor... Nieuws UMCG nieuws Promoties en Oraties UMCG RUG nieuws Polsslag Triakel Universiteitskrant (UK) Nieuws Onderwijs Over onderwijs Opleidingen Onderwijsinstituut Internationalisering NESTOR, de elektronische leeromgeving Ga direct naar.... Onderwijs Onderzoek Over onderzoek Onderzoekscholen Interfacultaire Instituten Bureau Onderzoek Financieringsmogelijkheden Internationale projecten Commissies Publicaties Wetenschapswinkel Onderzoek Faculteit Faculteit Faculteitsbureau Bestuur en commissies Disciplinegroepen Adresgegevens en openingstijden Faculteit Bibliotheek Welkom Nieuws Informatie Collectie Elektronische collectie Cursussen Instructie/Handleidingen Bibliotheek Vacatures Algemene informatie Vacatures bij het UMCG Vacatures bij de Rijksuniversiteit Groningen Academic Transfer Noorderlink UMCG Tenure Track: loopbaanperspectief voor onderzoekstalent Vacatures Home RUG Home UMCG Faculteit ... Liver, Digestive and Metabolic Diseases

79. Gigablast Search Results Karger PublishersThe gene for sitosterolemia, a disorder involving abnormal sterol To testfor an involvement of ABCG5 in sitosterolemia all of the coding exons of the http://dir.gigablast.com/Health/Conditions_and_Diseases/Nutrition_and_Metabolism

Family filter: On Off Entire Directory Entire Category Pages in Base Category Sites in Base Category Top Health Sitosterolemia Sitosterolemia An article about this uncommon genetic lipid disorder and the gene that is responsible for it. www.intelihealth.com/ipn/pcn/HN/s_r/00196749.htm [archived copy] [stripped] [older copies] - indexed: Apr 26 2005 - modified: Aug 22 2001 Family filter: On Off Entire Directory Entire Category Pages in Base Category Sites in Base Category Try your search on gigablast google yahoo msn ... dmoz Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor

80. Plant Sterols, Health Claims And Strategies To Reduce Cardiovascular Disease Ris Medline; Bhattacharyya AK, Connor WE ßsitosterolemia and xanthomatosis.A newly described lipid storage disease in two sisters. http://www.jacn.org/cgi/content/full/18/6/559

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text (PDF) 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 Jenkins, D. J.A. Articles by Kendall, C. W.C. Journal of the American College of Nutrition, Vol. 18, No. 6, 559-562 (1999) Published by the American College of Nutrition Editorial Plant Sterols, Health Claims and Strategies to Reduce Cardiovascular Disease Risk David J.A. Jenkins, MD, PhD, DSc, FACN and Cyril W.C. Kendall, PhD In this issue of the journal, Williams and colleagues report the results of their study of nineteen two- to five-year old healthy children who received three grams of stanol in a margarine or five grams of wheat fiber in breakfast cereal for one month periods in a randomized crossover design [ ]. Stanol margarine reduced total cholesterol by 12.4% and LDL cholesterol by 15.5%

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