61. CME : Cardiovascular Disease : BCM Continuing Medical Education ONLINE CME. sitosterolemia A Rare Genetic Disorder Leads to Insight into an Important Physiological Process visit this site . http://cme.bcm.tmc.edu/search/detail.cfm?cme=360

62. Science -- Sign In Accumulation of Dietary Cholesterol in sitosterolemia Caused by Mutations in Adjacent ABC Transporters. Knut E. Berge, 1 * Hui Tian http://www.sciencemag.org/cgi/content/short/290/5497/1771

You do not have access to this item: Abstract : Berge et al., Accumulation of Dietary Cholesterol in Sitosterolemia Caused by Mutations in..., 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 Regain Access to a recent Pay per Article purchase Need More Help? Can't get past this page? Forgotten your user name or password? AAAS Members activate your FREE Subscription

63. Science -- Sign In cellular machinery that allows selective absorption of animal sterols but not those of plants is defective in a rare, recessive disorder called sitosterolemia. http://www.sciencemag.org/cgi/content/full/290/5497/1709

You do not have access to this item: Full Text : Allayee et al., BIOCHEMISTRY: An Absorbing Study of Cholesterol, 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 Pay per Article 24 hours for US $10.00 from your current computer Regain Access to a recent Pay per Article purchase Need More Help? Can't get past this page? Forgotten your user name or password? AAAS Members activate your FREE Subscription

64. Dominion Web Directory : Health : Conditions_and_Diseases : Nutrition_and_Metabo sitosterolemia (2). See Also Top/Health/Conditions and Diseases/S. Sites » sitosterolemia Open in a new browser window An article http://directory.dominion-web.com/Top/Health/Conditions_and_Diseases/Nutrition_a

Search the Directory search the entire directory search this category only advanced Top Health Sitosterolemia Sitosterolemia See Also: Top/Health/Conditions and Diseases/S Sites: Sitosterolemia An article about this uncommon genetic lipid disorder and the gene that is responsible for it. http://www.intelihealth.com/ipn/pcn/HN/s_r/00196749.htm This category needs an editor Last Updated: 2004-02-11 00:15:05 Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Powered by DWodp pro version 1.4 Dominion Web Web Design Products Support ... Store

65. Wauu.DE: Health: Conditions And Diseases: Nutrition And Metabolism Disorders: Ch Wauu.DE Health Conditions and Diseases Nutrition and Metabolism Disorders Cholesterol and Other Fats sitosterolemia. http://www.wauu.de/Health/Conditions_and_Diseases/Nutrition_and_Metabolism_Disor

Home Health Conditions and Diseases Nutrition and Metabolism Disorders ... Cholesterol and Other Fats : Sitosterolemia Search DMOZ-Verzeichnis: All Categories Categories Onlye Links: Scientists Closer To Locating Gene That May Explain Cholesterol Absorption An article about a study of 10 families with sitosterolemia, a rare, recessively inherited disease. http://news.medscape.com/MedscapeWire/1998/09.98/medwire0901.scientists.html Sitosterolemia A press release with a brief explanation of this disease. http://www.musc.edu/frd/P200047ncs.htm Sitosterolemia An article about this uncommon genetic lipid disorder and the gene that is responsible for it. http://www.intelihealth.com/ipn/pcn/HN/s_r/00196749.htm © 1998- 2002 Ein Service von Wauu.de UserNet.DE Linktip: MnogoSearch.ORG Map TopTen TopTen eng Aktuelle Linktips Mozilla 1.7 RC 1 Basteln 0190 Warner Free Rund ums Rad ... Fantasy - Shop Webmaster-Links Webspace Free Subdomain Service Merchandise Fun SUMA - Forum ... Abmahnungen œber Wauu Regeln Webmasterservice Impressum b

66. Applied Genetics News: Sitosterolemia Genes Discovered You are Here Articles Applied Genetics News Dec, 2000 Article. sitosterolemia Genes Discovered. Applied Genetics News, Dec, 2000. Tularik, Inc. http://www.findarticles.com/cf_dls/m0DED/5_21/68655482/p1/article.jhtml

@import url(/css/us/style.css); @import url(/css/us/searchResult1.css); @import url(/css/us/articles.css); Advanced Search Home Help IN all publications this publication Reference Automotive Business Computing Entertainment Health News Reference Sports YOU ARE HERE Articles Applied Genetics News Dec, 2000 Content provided in partnership with Print friendly Tell a friend Find subscription deals Sitosterolemia Genes Discovered Applied Genetics News Dec, 2000 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.

67. Ingenta: Article Summary -- Novel Donor Splice Site Mutation Of ABCG5 Gene In Si Novel Donor Splice Site Mutation of ABCG5 Gene in sitosterolemia Molecular Genetics and Metabolism February 2002, vol. 75, no. 2, pp. 178180(3) Lam CW. http://www.ingenta.com/isis/searching/ExpandTOC/ingenta?issue=pubinfobike://ap/g

68. Sitosterolemia Human protein Q9H222 ATP-binding cassette, sub-family G, member Tian,H., Graf,GA, Yu,L., Grishin,NV, Schultz,J., Kwiterovich,P., Shan,B., Barnes,R., Hobbs,HH, Accumulation of dietary cholesterol in sitosterolemia caused by http://www.directory.net/Health/Conditions_and_Diseases/Nutrition_and_Metabolism

Sitosterolemia Directory: Guide to Sitosterolemia sites on the internet. Search Engines: Google Yahoo MSN FindWhat ... City Guides Sitosterolemia Health Conditions and Diseases Nutrition and Metabolism Disorders Cholesterol and Other Fats ... Sitosterolemia Websites Sitosterolemia http://www.musc.edu/frd/p200047ncs.htm A press release with a brief explanation of this disease. Sitosterolemia http://www.intelihealth.com/ipn/pcn/hn/s_r/00196749.htm An article about this uncommon genetic lipid disorder and the gene that is responsible for it. Got eight minutes? Join in and participate in Stanford's Web Credibility Project's latest study. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor The content of Directory.NET is based on the Open Directory. It has been enhanced and modified by Directory.NET using proprietary technology. Directory.NET All Rights Reserved

69. Results Page 5. Title, A mouse model of sitosterolemia absence of Abcg8/sterolin2 results in failure to secrete biliary cholesterol. Author, Klett http://eprints.bo.cnr.it/cgi-bin/show.pl?code=20323&arch=90

70. Mind-Brain.com atorvastatin therapy. sitosterolemia in ABCtransporter G5-deficient mice is aggravated on activation of the liver-X receptor. link http://mind-brain.com/abstracts.php?qa=G5

71. Metabolism & Nutrition Lipids Online Slides sitosterolemia, betasitosterolemia, plant (new) sitosterolemia A Rare Genetic Disorder Leads to Insight into an http://icarus.med.utoronto.ca/meaghan2/JuHo/MetNut/MetNut_show.asp?week_s=2&cat=

72. Gene-Disease Set For Chromosome 2 GeneCardABCG5, 2p21, Q9H222, ABG5_HUMAN, ATPbinding cassette, sub-family G, member 5 (Sterolin-1). defects in abcg5 are a cause of sitosterolemia mim210250 http://www.ebi.ac.uk/proteome/HUMAN/chromosomes/disease_set/2.html

@EBI: Full view Disease view Chromosome X Y M Gene-Disease set for chromosome , according to the UniProt Knowledgebase. [Alternative view: Complete gene set Gene HGNC GDB GeneCard Location Acc Nr Entry Name Description Disease MIM PubMed Ensembl InterPro CluSTr STRING Bile salt export pump (ATP-binding cassette, sub-family B, member 11). defects in abcb11 are the cause of progressive familial intrahepatic cholestasis 2 (pfic2) [mim:601847]. pfic2 is an inherited liver disease of childhood which is characterized by cholestasis and normal serum gamma-glutamyltransferase activity. defects in abcb11 are also found in cases of chronic intrahepatic cholestasis without obvious familial history of chronic liver disease ATP-binding cassette, sub-family G, member 5 (Sterolin-1). defects in abcg5 are a cause of sitosterolemia [mim:210250]; also known as phytosterolemia or shellfish sterolemia. it is a rare autosomal recessive disorder characterized by increased intestinal absorption of all sterols including cholesterol, plant and shellfish sterols, and decreased biliary excretion of dietary sterols into bile. sitosterolemia patients have hypercholesterolemia, very high levels of plant sterols in the plasma, and frequently develop tendon and tuberous xanthomas, accelerated atherosclerosis and premature coronary artery disease ATP-binding cassette, sub-family G, member 8 (Sterolin-2).

73. Tularik Inc. Investor Relations working in collaboration with scientists from the University of Texas Southwestern Medical Center, have identified the genes that cause sitosterolemia. http://www.corporate-ir.net/ireye/ir_site.zhtml?ticker=TLRK&script=410&layout=-6

74. OMIM - SITOSTEROLEMIA http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=210250

75. Nutrition And Metabolism Disorders - 267 Of The Best Sites Selected By Humans Porphyria Foundation Refsums Refsum Disease -Refsum Disease -Refsum Disease -Refsums Disease -Refsums Diet sitosterolemia -sitosterolemia -sitosterolemia http://www.cbel.com/nutrition_and_metabolism_disorders/

Pages A-G 2 Columns Pages H-O Order by Alphabet Ordered by Theme Order by Popularity 3 Columns Pages P-Z 4 Columns Nutrition and Metabolism Disorders CBEL Health ( 267 links, last update: 12 April 2004 ) * = new links [Find on this page] A Pinch of Controversy Shakes Up Dietary Salt Action Guide for Healthy Eating Binge Eating Disorder ... Update on Nutraceuticals: dot Pharmacy Amyloidosis Amyloid Treatment and Research Center Amyloidosis Amyloidosis Amyloidosis ... Cerebrotendinous Xanthomatosis: CTX Fabrys Cardiac Transplantation for Fabrys Disease EMedicine: Fabry Disease Fabrazyme - A Treatment for Fabry Disease Fabry Community ... Fabrys Disease Gauchers Children with Gauchers Disease Comprehensive Gaucher Treatment Center European Gaucher Alliance Gaucher Disease ... What is Glycogen Storage Disease? Hyperlipidemia Familial Combined Hyperlipidemia - Overview Hyperlipidemia Hyperlipidemia Hyperlipidemia Hub ... Tumescent Liposuction Malnutrition Definition of Malnutrition Demographic and Health Surveys Malnutrition Malnutrition ... Starvation Niemann-Pick Ara Parseghian Medical Research Foundation International Center for Types A and B Niema...

76. Synapse Mobile: June 14, 2001 - PageTwo : Advances On The Cholesterol Front (Pri of the new disease, autosomal recessive hypercholesterolemia (ARH), comes only a few months after the genetic basis was delineated for sitosterolemia, one of http://www.ucsf.edu/synapse/archives/2001.06.14/mobile/h_and_s.html

Synapse Mobile: June 14, 2001 - PageTwo Back to Synapse Mobile: Main Page Advances on the Cholesterol Front By Dustin Mark Familial hypercholesterolemia (FH) is caused by a mutation in the gene for the LDL receptor, which is instrumental in the removal of LDL particles from the blood. These individuals tend to have cholesterol levels around 300 mg/dL. The frequency of FH heterozygotes (who have half of their LDL receptors damaged) is roughly 1:500. Like all people with high cholesterol, these individuals are increasingly subject to atherosclerosis, often manifested in coronary heart disease. FH homozygotes, in whom LDL receptors are defective, have such severe hypercholesterolemia (around 650 mg/dL), that they often die from heart attacks in early childhood. The second most common disease in the group, familial ligand defective apoB-100, is less severe than FH and has an incidence around 1:1000 for heterozygotes. This disease results from a defect in the ligand for the LDL receptor, apoB-100 (found in LDL particles), which decreases the ability of LDL receptor to clear LDL particles from the blood, resulting in abnormally elevated LDL serum levels. The most recently discovered disease, autosomal recessive hyperchosterolemia (ARH), is described in the May 18 issue of Science. Briefly, this disease approaches the severity of homozygous FH, and is distinguishable primarily at the genetic level. Children and adolescents with ARH often suffer from premature coronary heart disease and usually have massive deposits of LDL-derived cholesterol in the skin. Unlike with FH, heterozygotes for ARH have completely normal cholesterol levels. The disease-causing mutations occur in a gene that codes for a previously undescribed cytosolic protein, aptly named ARH. This protein seems to function in either the internalization of the LDL receptor, an act that is necessary for the removal of LDL particles from the blood, or the recycling of the LDL receptor back to the surface of cells. Either way, the lack of functional ARH prevents cells from extracting LDL particles from the circulation.

77. (2001 Spring) Key Players In Cholesterol Absorption Uncovered By UT Southwestern and other sterols. The disorder, sitosterolemia, is characterized by hyperabsorption of cholesterol and plant sterols. This leads 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.

78. Dr. Hobbs , Dr. Helen Hobbs, Dr. Helen Hobbs genes defective in two autosomal recessive forms of severe hypercholesterolemia, autosomal recessive hypercholesterolemia (ARH) and sitosterolemia, which are http://www8.utsouthwestern.edu/UTSW/FacDir/CDA/FindAFaculty/Results/FacDir_FacSe

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 Helen Hobbs, M.D. Research Details Name: Helen Haskell Hobbs, M.D. Endowed Title: 1995 Dallas Heart Ball Chair in Cardiology Research Eugene McDermott Distinguished Chair for the Study of Human Growth and Development Academic Title: Professor Administrative Title: Center Director; Chief, Division of Medical Genetics, Internal Medicine Primary Appointment: Eugene McDermott Center For Growth and Development Secondary Appointment: Internal Medicine - Medical Genetics School: Southwestern Medical School Graduate School of Biomedical Sciences Degree Program: MSTP Genetics and Development Non-degree Program: STARS SURF Affiliations: Internal Medicine Howard Hughes Medical Institute Department Website: Center for Human Genetics Lab Website: Hobbs Lab Email: Helen Hobbs, M.D. Physician Profile: Helen Hobbs, M.D. RESEARCH OVERVIEW RESEARCH INTERESTS LDL metabolism.

79. Future Drugs LDL receptor gene LDLR); familial liganddefective apoB-100 (apoB gene APOB); autosomal recessive hypercholesterolemia (ARH gene); sitosterolemia (ABCG5 or http://www.future-drugs.com/summery.asp?articleid=736&submit=txt2

80. Conditions And Diseases: Nutrition And Metabolism Disorders: Cholesterol And Oth Information on Conditions and Diseases, Nutrition and Metabolism Disorders, Cholesterol and Other Fats, sitosterolemia and much more Treasure Coast Health. http://treasurecoasthealth.com/treasurecoasthealth.php/Health/Conditions_and_Dis

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