1. WESTPORT, Sep 16 (Reuters) - The Gene Responsible For The Uncommon WESTPORT, Sep 16 (Reuters) The gene responsible for the uncommon genetic lipid disorder sitosterolemia has been localized to a defined region on chromosome 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. The original report detailed 2 sisters who The defect associated with sitosterolemia manifests at 3 levels, culminating in greatly http://www.emedicine.com/ped/topic2110.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health Link to this site Back to: eMedicine Specialties Pediatrics Genetics And Metabolic Disease Sitosterolemia Last Updated: April 22, 2004 Rate this Article Email to a Colleague Synonyms and related keywords: phytosterolemia, pseudohomozygous familial hypercholesterolemia 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 , Staff Physician, Department of Pediatrics, Doernbecher Children's Hospital Robert D Steiner, MD, is a member of the following medical societies: American Academy of Pediatrics American College of Medical Genetics American Medical Association , and American Society of Human Genetics Editor(s): Ian Krantz, MD

3. EMedicine - Sitosterolemia : Article Excerpt By: Robert D Steiner, MD sitosterolemia sitosterolemia is a rare inherited plant sterol storage disease. eMedicine World Medical Library. (advertisement). Excerpt from sitosterolemia. http://www.emedicine.com/ped/byname/sitosterolemia.htm

(advertisement) Excerpt from Sitosterolemia Synonyms, Key Words, and Related Terms: phytosterolemia, pseudohomozygous familial hypercholesterolemia Please click here to view the full topic text: Sitosterolemia Background: Sitosterolemia is a rare inherited plant sterol storage disease. Bhattacharyya and Connor first described this disease in 1974. The original report detailed 2 sisters who presented with extensive tendon xanthomas but normal plasma cholesterol levels. Subsequently, they were found to have significantly elevated plasma levels of plant sterols in the form of beta-sitosterol, campesterol, and stigmasterol. Sitosterolemia is characterized by tendon and tuberous xanthomas and by a strong propensity towards premature coronary atherosclerosis. Significant increases of plant sterols (phytosterols) are found in blood and various tissues. Arteries and xanthomas in patients with sitosterolemia contain increased amounts of these sterols, particularly sitosterol, stigmasterol, campesterol, and their 5-alpha derivatives. Untreated, the condition causes a significant increase in morbidity and mortality for those affected. Coronary heart disease and its inherent health consequences are the primary causes of illness and premature death in untreated patients.

4. Sitosterolemia - Information / Diagnosis / Treatment / Prevention home nutrition and metabolism disorders cholesterol and other fats sitosterolemia sitosterolemia. Information • Diagnosis • Treatment • Prevention. http://www.healthcyclopedia.com/nutrition-and-metabolism-disorders/cholesterol-a

Home Health cyclopedia All Topics by Category The Good Health Search Engine Health Conditions A-Z Gurus ... cholesterol and other fats > sitosterolemia Sitosterolemia Information / Diagnosis / Treatment / Prevention External links (marked with an arrow ) open in a new window. This site is a web directory and does not offer medical advice. We cannot take responsibility for information found on listed sites. This Page Health News Web Directory: Health News: Search millions of published articles for news on Sitosterolemia Modern Medicine Aging The Ardell Wellness Report HealthFacts Medical Post Medical Update Men's Health and the National Women's Health Report Note: Subscription required to access the full text of articles. Web Directory: Sitosterolemia An article about this uncommon genetic lipid disorder and the gene that is responsible for it. Sitosterolemia A press release with a brief explanation of this disease. Notes: Healthcyclopedia presents health information in the form of websites and articles that encompass conventional medicine and alternative treatments Under no circumstances can it recommend or endorse a specific drug or therapy or treatment.

5. BioMed Central | Full Text | A Mouse Model Of Sitosterolemia: Absence Of Abcg8/s A mouse model of sitosterolemia absence of Abcg8/sterolin2 results in failure to secrete biliary cholesterol Eric L Klett 1 , Kangmo Lu 1 , Astrid Kosters 2 http://www.biomedcentral.com/1741-7015/2/5

home journals A-Z journals by subject advanced search ... Volume 2 Viewing options Abstract Full text PDF Pre-publication history Other links: E-mail to a friend Download references Post a comment PubMed record ... Related articles in PubMed Search PubMed For Klett EL Lu K Kosters A Vink E ... Patel SB 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 Research Service and Medical Service, Department of Veterans Affairs Medical Center, East Orange, NJ 07019, USA

6. Sitosterolemia A press release with a brief explanation of this disease. http://www.musc.edu/frd/P200047ncs.htm

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

8. Entrez PubMed Click here to read sitosterolemia exclusion of genes involved in reduced cholesterol biosynthesis. Patel SB, Honda A, Salen G. Center http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&dopt=Abstra

9. ClinicalTrials.gov - Information On Clinical Trials And Human Research Studies: Nutritional and Metabolic Diseases sitosterolemia. Include trials that are no longer recruiting patients. http://clinicaltrials.gov/ct/screen/BrowseAny?path=/browse/by-condition/hier/BC1

10. ClinicalTrials.gov - Information On Clinical Trials And Human Research Studies: Diseases and Abnormalities at or before Birth sitosterolemia. Include trials that are no longer recruiting patients. http://clinicaltrials.gov/ct/screen/BrowseAny?path=/browse/by-condition/hier/BC1

11. WWW: Sitosterolemia All about sitosterolemia www from BigTome.com Learn about sitosterolemia - www.medterms.com. Relevant information on sitosterolemia produced by U.S. board certified physicians. http://www.bigtome.com/big/page/Sitosterolemia

WWW: Featured Web Pages Learn about Sitosterolemia - www.medterms.com Relevant information on Sitosterolemia produced by U.S. board certified physicians. Sitosterolemia Evaluation at the NIH - patientrecruitment.nhlbi.nih.gov The National Heart, Lung and Blood Institute is actively seeking patients with Sitosterolemia to receive free evaluation as part of clinical research studies. Categories (1-1 of 1) Health: Conditions_and_Diseases: Nutrition_and_Metabolism_Disorders: Cholesterol_and_Other_Fats: Sitosterolemia Web Pages Sitosterolemia A press release with a brief explanation of this disease. - http://www.musc.edu/frd/P200047ncs.htm Health: Conditions and Diseases: Nutrition and Metabolism Disorders: Cholesterol and Other Fats: Sitosterolemia 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 Health: Conditions and Diseases: Nutrition and Metabolism Disorders: Cholesterol and Other Fats: Sitosterolemia Put this Directory on Your Site! Submit a Site Become an Editor

12. Entrez PubMed Click here to read A mouse model of sitosterolemia absence of Abcg8/sterolin2 results in failure to secrete biliary cholesterol. http://www.biomedcentral.com/pubmed/15040800

Entrez PubMed Nucleotide Protein ... Books Search PubMed Protein Nucleotide Structure Genome Books CancerChromosomes 3D Domains Domains Gene GEO GEO DataSets HomoloGene Journals MeSH NCBI Web Site OMIM PMC PopSet SNP Taxonomy UniGene UniSTS for Limits Preview/Index History Clipboard ... Text Version Entrez PubMed Overview FAQ Tutorial New/Noteworthy ... E-Utilities PubMed Services Journals Database MeSH Database Single Citation Matcher Batch Citation Matcher ... Cubby Related Resources Order Documents NLM Gateway TOXNET Consumer Health ... PubMed Central Summary Brief Abstract Citation ASN.1 MEDLINE XML UI List LinkOut Related Articles Cited in Books CancerChrom Links Domain Links 3D Domain Links GEO DataSet Links Gene Links Genome Links GEO Links HomoloGene Links Nucleotide Links OMIM Links PMC Links Cited in PMC PopSet Links Protein Links SNP Links Structure Links UniSTS Links Show: Sort Author Journal Pub Date Text File Clipboard E-mail Order BMC Med. 2004 Mar 24;2(1):5. Related Articles, Links A mouse model of sitosterolemia: absence of Abcg8/sterolin-2 results in failure to secrete biliary cholesterol. Klett EL, Lu K, Kosters A, Vink E, Lee MH, Altenburg M, Shefer S, Batta AK, Yu H, Chen J, Klein R, Looije N, Oude-Elferink R, Groen AK, Maeda N, Salen G, Patel SB.

13. Lipids Online Slides: Atherosclerosis, Apolipoprotein B Developed by Baylor College of Medicine, Lipids Online provides upto-date resources for researchers, faculty, and clinicians in atherosclerosis and other lipid disorders. indicated for treatment http://www.lipidsonline.org/slides/slide01.cfm?q=atherosclerosis&dpg=25

14. Disease Directory : Nutrition And Metabolism Disorders : Cholesterol And Other F Abnormal metabolism of shellfish sterols in a patient with sitosterolemia and xanthomatosis. Applied Genetics News sitosterolemia Genes Discovered. http://www.diseasedirectory.net/Nutrition_and_Metabolism_Disorders/Cholesterol_a

Wednesday, June 02, 2004 Nutrition and Metabolism Disorders Cholesterol and Other Fats Cerebrotendinous Xanthomatosis Fabry's ... Cholesterol and Other Fats : Sitosterolemia Abnormal metabolism of shellfish sterols in a patient with ... - Abnormal metabolism of shellfish sterols in a patient with sitosterolemia and xanthomatosis. Gregg RE, Connor WE, Lin DS, Brewer HB Jr. Applied Genetics News: Sitosterolemia Genes Discovered. Conditions and Diseases - Sitosterolemia Top Links - Sitosterolemia Web Site Links. Sitosterolemia - A press release with a brief explanation of this disease. Sitosterolemia - An article Dominion Web Directory - /Health/Conditions_and_Diseases ... - Top: Health: Conditions_and_Diseases: Nutrition_and_Metabolism_Disorders: Cholesterol_and_Other_Fats: Sitosterolemia: Sitosterolemia (3). GeneCards Disorder Information: sitosterolemia - GeneCards Disorder Information: sitosterolemia. Search different databases containing disease information by clicking on the buttons below. Geometry.Net - Health_Conditions: Sitosterolemia - Health Conditions and Diseases sitosterolemiaWESTPORT, Sep 16 (Reuters) The gene responsible for the uncommon genetic lipiddisorder sitosterolemia has been Geometry.Net - Health_Conditions: Sitosterolemia

15. BioMed Central | Abstract | A Mouse Model Of Sitosterolemia: Absence Of Abcg8/st ABCG8 (encoding sterolin2), result in sitosterolemia, a rare autosomal recessive disorder of sterol Based upon the genetics of sitosterolemia, ABCG5/sterolin-1 and ABCG8/sterolin http://www.biomedcentral.com/1741-7015/2/5/abstract

home journals A-Z journals by subject advanced search ... Volume 2 Viewing options Abstract Full text PDF Pre-publication history Other links: E-mail to a friend Download references Post a comment PubMed record ... Related articles in PubMed Search PubMed For Klett EL Lu K Kosters A Vink E ... Patel SB 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

16. Disease Directory : Sitosterolemia 12.1 Familiaalinen hyperkolesterolemia, FHtauti. M. Salo 16.8.96 Lastenendokrinologien...... Directory Listing. Title sitosterolemia http://www.diseasedirectory.net/detailed/22659.aspx

Wednesday, June 02, 2004 Nutrition and Metabolism Disorders Cholesterol and Other Fats Cerebrotendinous Xanthomatosis Fabry's ... Sitosterolemia : Sitosterolemia Directory Listing Title: Sitosterolemia Description: 12.1 Familiaalinen hyperkolesterolemia, FH-tauti. M. Salo 16.8.96 Lastenendokrinologien syyskokous, Pirkkala: LDL-reseptorimutaatio; Date Added: 2/13/2004 4:01:57 PM URL: http://www.lastenendo.sci.fi/luku92/921.html

17. Lipids Online Slides: Sitosterolemia, Beta-sitosterolemia, Plant Sterols slides in tray 0. Add Search Results to Tray. Search Slides. Index of Slide Contents. search sitosterolemia results 17. 1 2 sitosterolemia, aka phytosterolemia. http://www.lipidsonline.org/slides/slide01.cfm?q=sitosterolemia

18. Lipids Online Slides: Cholesterol, Plant Sterols, Phytosterols sitosterolemia A Rare Genetic Disorder Leads to Insight into an Important Physiological Process (Shailesh B. Patel, BM, ChB, FRCP). 1 2 3 sitosterolemia. http://www.lipidsonline.org/slides/slide01.cfm?tk=29

19. Sitosterolemia - Cholesterol: Health And Medical Information About High Choleste sitosterolemia A genetic disease involving lipids (fats) in which there is excessive intestinal absorption of dietary sterols and impaired clearance of these http://www.medterms.com/script/main/art.asp?articlekey=15405

20. Sitosterolemia Information Diseases Database 3 synonyms or equivalents were found. sitosterolemia aka/or Phytosterolemia aka/or Sitosterolaemia Medical information linkssitosterolemia specific sites. http://www.diseasesdatabase.com/ddb29796.htm

Diseases Database Index Sponsors Contact ... Previous Page Sitosterolemia Information Search 3 synonyms or equivalents were found. Sitosterolemia aka/or Phytosterolemia aka/or Sitosterolaemia may cause or feature (Follow link for list) may be a risk factor for (Follow link for list) belong(s) to the category of (Follow link for list) No UMLS definitions Sitosterolemia: specific sites Send Sitosterolemia to medical search engines (JavaScript enabled browsers only) If your browser has no JavaScript you can still use these: Search using Internet medical databases Search using Internet search engines (non-specialist) We subscribe to the HONcode principles of the Health On the Net Foundation i-medicine.info - the evidence based medicine, informatics and audit portal Valid XHTML 1.0 Served 2004-06-03 03:43:01 Metadata Updated 2004-05-22

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