1. 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

WESTPORT, Sep 16 (Reuters) - The gene responsible for the uncommon genetic lipid disorder sitosterolemia has been localized to a defined region on chromosome 2p21.The researchers reporting the finding suggest that identification of the gene could elucidate the mechanisms underlying cholesterol absorption, and lead to potential treatments for sitosterolemia itself. Patients with sitosterolemia "...appear to hyperabsorb both cholesterol and plant sterols from the intestine," Dr. Shailendra B. Patel of the University of Texas Southwestern Medical Center in Dallas and a multicenter team explain.They studied 10 families with the disorder in order to begin to identify the gene responsible for the disease. "The disease locus for sitosterolemia maps to 2p21, to an interval no larger than 15 cM, spanned by the microsatellite markers D2S1788 and D2S1352," Dr. Patel and associates report in the September 1st issue of The Journal of Clinical Investigation.Based on the different races of the 10 families and the lack of genetic heterogeneity, the authors suspect that "...there is only one locus that is responsible for causing this disease." Of the genes already mapped to this region, the researchers say, none is likely to be a candidate for the sitosterolemia gene "...based on their known and/or proposed functions."They hope that the eventual identification of the gene responsible for this disorder will help clarify the processes underlying cholesterol metabolism and sterol identification and elimination.

2. EMedicine - Sitosterolemia : Article By Robert D Steiner, MD sitosterolemia sitosterolemia is a rare inherited plant sterol storage disease.Bhattacharyya and Connor first described this disease in 1974. http://www.emedicine.com/ped/topic2110.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Sitosterolemia Last Updated: July 1, 2005 Rate this Article Email to a Colleague Synonyms and related keywords: phytosterolemia, pseudohomozygous familial hypercholesterolemia, pseudohomozygous hypercholesterolemia, sitosterol, stigmasterol, campesterol, plant sterols, coronary atherosclerosis, , xanthomas, autosomal recessive genetic condition, bile acid-binding resins, xanthelasma, corneal arcus, hemolytic anemia, thrombocytopenia, lipid disorder, lipid disease, lipid storage disorder, lipid storage disease, hyperlipidemia AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Robert D Steiner, MD , Head, Division of Metabolism, Associate Professor, Departments of Pediatrics and Molecular and Medical Genetics, Child Development and Rehabilitation Center, Coauthor(s): Patricia Campbell, MD

3. EMedicine - Sitosterolemia Article Excerpt By Robert D Steiner sitosterolemia sitosterolemia is a rare inherited plant sterol storage disease. Bhattacharyya and Connor first described this disease in 1974. The http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

4. EMedicine CME eMedicine Free CME is proudly brought to you by. Please click here to log in orregister to take eMedicine s CME on sitosterolemia . http://www.emedicine.com/asp/cmesplash.asp?id=842

5. Sitosterolemia WESTPORT, Sep 16 (Reuters) The gene responsible for the uncommon genetic lipid disorder sitosterolemia has been localized to a defined region on http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

6. Sitosterolemia Article describes sitosterolemia, its symptoms, diagnosis, and treatment. http://rarediseases.about.com/od/rarediseasess/a/052604.htm

var zLb=8; var zIoa1 = new Array('Elsewhere on the Web','NIH Sitosterolemia Research Study','http://patientrecruitment.nhlbi.nih.gov/LipidDisorders.aspx#9'); zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases S - V Rare Diseases: S Sitosterolemia Rare Diseases Essentials Rare Diseases: Basic Information Rare Diseases Support Groups ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/7.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Rare / Orphan Diseases newsletter! See Online Courses Search Rare / Orphan Diseases Stay up to date! Compare Prices Email to a friend ... Print this page Elsewhere on the Web NIH Sitosterolemia Research Study Most Popular Muscular Dystrophy ALD and Lorenzo's Oil Progeria Syndromes Leprosy (Hansen's Disease) ... The Elephant Man What's Hot Charcot-Marie-Tooth Disease Peyronie's Disease Twin-to-Twin Transfusion Synd Autoimmune Kidney Disease ... Cri-du-Chat Syndrome adunitCM(150,100,'x55') Sitosterolemia From Mary Kugler Your Guide to Rare / Orphan Diseases FREE Newsletter.

7. Sitosterolemia - Evaluation, Treatment And Research At The The National Heart, Lung and Blood Institute is actively seeking patients with sitosterolemia to receive free evaluation and/or treatment in our http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

8. Sitosterolemia This very rare disorder causes an accumulation of plant sterols in the blood.Left untreated, it can lead to coronary artery disease . http://rarediseases.about.com/b/a/089041.htm

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases Essentials ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/7.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Rare / Orphan Diseases newsletter! See Online Courses Search Rare / Orphan Diseases Sitosterolemia Rare/Orphan Diseases Blog Main From Mary Kugler Your Guide to Rare / Orphan Diseases FREE Newsletter. Sign Up Now! May 30, 2004 Sitosterolemia This very rare disorder causes an accumulation of plant sterols in the blood. Left untreated, it can lead to coronary artery disease. Email a Friend Display Latest Headlines Read Archives Advertisement Most Popular Muscular Dystrophy ALD and Lorenzo's Oil Progeria Syndromes Leprosy (Hansen's Disease) ... The Elephant Man What's Hot Charcot-Marie-Tooth Disease Peyronie's Disease Twin-to-Twin Transfusion Synd Autoimmune Kidney Disease ... Cri-du-Chat Syndrome adunitCM(150,100,'x55') Topic Index Email to a Friend Our Story Be a Guide ... New York Times Company Hurricane Katrina About's Hurricane Blogs NY Times Coverage Where to Donate Exclusive: One Family's Story ... How to Explain to Kids Related Topics Multiple Sclerosis Parenting Special Needs Sleep Disorders Headlines Cystic Fibrosis Foundation helps Hurricane Katrina victims Robert J. Beall, Ph.D, President and CEO of the Cystic...

9. Ezetimibe Effectively Reduces Plasma Plant Sterols In Patients Ezetimibe Effectively Reduces Plasma Plant Sterols in Patients With sitosterolemia G. Salen, MD* ; K. von Bergmann, MD* ; D. L tjohann, PhD http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

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

11. Ezetimibe Effectively Reduces Plasma Plant Sterols In Patients Your browser does not support frames. Click here to view the unframed reprint. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

12. Entrez PubMed sitosterolemia in ABCtransporter G5-deficient mice is aggravated on activationof the liver-X receptor. Plosch T, Bloks VW, Terasawa Y, Berdy S, Siegler K, http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

13. Down-regulation Of Cholesterol Biosynthesis In Sitosterolemia Downregulation of cholesterol biosynthesis in sitosterolemia diminished activities of acetoacetyl-CoA thiolase, 3-hydroxy-3-methylglutaryl-CoA http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

14. Down-regulation Of Cholesterol Biosynthesis In Sitosterolemia Bhattacharyya, A. K., Connor, W. E. 1974. sitosterolemia and xanthomatosis. J. Clin. Invest. 531033-1043Medline. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

15. Lipids Online Slides: Sitosterolemia, Plant Sterols, Phytosterols Developed by Baylor College of Medicine, Lipids Online provides upto-dateresources for researchers, faculty, and clinicians in atherosclerosis and other http://www.lipidsonline.org/slides/slide01.cfm?q=sitosterolemia

16. BioMed Central Full Text A Mouse Model Of Sitosterolemia sitosterolemia (MIM 210250, also known as phytosterolemia) is a rare autosomal, recessively inherited disorder characterized by elevated blood http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

17. Lipids Online Slides: Homozygous Sitosterolemia, Ezetimibe, Phytosterols Developed by Baylor College of Medicine, Lipids Online provides upto-dateresources for researchers, faculty, and clinicians in atherosclerosis and other http://www.lipidsonline.org/slides/slide01.cfm?q=homozygous sitosterolemia

18. BioMed Central Pre-publication History A Mouse Model Of Prepublication history for A mouse model of sitosterolemia absence of Abcg8/sterolin-2 results in failure to secrete biliary cholesterol Eric http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

19. BioMed Central | Full Text | A Mouse Model Of Sitosterolemia: Absence Of Abcg8/s Based upon the genetics of sitosterolemia, ABCG5/sterolin1 and sitosterolemia (MIM210250, also known as phytosterolemia) is a rare autosomal, http://www.biomedcentral.com/1741-7015/2/5

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

20. Mapping A Gene Involved In Regulating Dietary Cholesterol Absorption Mapping a Gene Involved in Regulating Dietary Cholesterol Absorption The sitosterolemia Locus Is Found at Chromosome 2p21 http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126

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