41. Unexpected Failure Of Bile Acid Malabsorption To Stimulate Cholesterol Synthesis sitosterolemia exclusion of genes involved in reduced cholesterol biosynthesis Downregulation of cholesterol biosynthesis in sitosterolemia http://atvb.ahajournals.org/cgi/content/abstract/10/2/289

This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Request Permissions PubMed PubMed Citation Articles by Nguyen, L. Articles by Ness, G. ARTICLES Unexpected failure of bile acid malabsorption to stimulate cholesterol synthesis in sitosterolemia with xanthomatosis. Comparison with lovastatin L Nguyen, G Salen, S Shefer, V Shore, GS Tint and G Ness Department of Medicine, University of Medicine and Dentistry of New Jersey-New Jersey Medical School, Newark. We examined the relationship between cholesterol synthesis and high affinity low density lipoprotein (LDL) catabolism in freshly isolated mononuclear leukocytes and plasma sterols and apolipoprotein concentrations in three homozygous and one heterozygous subject with sitosterolemia with xanthomatosis and in 12 control subjects. Observations in untreated subjects were compared during therapy with lovastatin or interruption of the enterohepatic circulation of bile acids. Plasma cholesterol, plant

42. Ezetimibe Effectively Reduces Plasma Plant Sterols In Patients With Sitosterolem Background— sitosterolemia is a recessively inherited disorder that results from Key Words ezetimibe • sitosterolemia • cholesterol • coronary disease http://circ.ahajournals.org/cgi/content/short/109/8/966

Published online before print February 9, 2004, doi:10.1161/01.CIR.0000116766.31036.03 This Article Full Text Full Text (PDF) All Versions of this Article: most recent 01.CIR.0000116766.31036.03v1 Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Request Permissions PubMed PubMed Citation Articles by Salen, G. Related Collections Lipids Cardiovascular Pharmacology Primary prevention Circulation. Clinical Investigation and Reports Ezetimibe Effectively Reduces Plasma Plant Sterols in Patients With Sitosterolemia G. Salen, MD K. von Bergmann, MD P. Kwiterovich, MD J. Kane, MD, PhD S.B. Patel, MD, PhD T. Musliner, MD P. Stein, MD B. Musser, PhD , and the Multicenter Sitosterolemia Study Group From the UMDNJ-New Jersey Medical School, Newark, NJ, and VA Medical Center, East Orange, NJ (G.S.); Department of Clinical Pharmacology, University of Bonn (K.V.B., D.L.), Bonn, Germany; Johns Hopkins University (P.K.), Baltimore, Md; University of California at San Francisco (J.K.), San Francisco, Calif; Medical University of South Carolina (S.B.P.), Charleston, SC; and Merck Research Laboratories (T.M., P.S., B.M.), Rahway, NJ. Reprint requests to Dr Gerald Salen, University of Medicine and Dentistry of New Jersey, 185 S Orange Ave, MSB-H538, Newark, NJ 07103. E-mail

43. Ezetimibe Effectively Reduces Plasma Plant Sterols In Patients With Sitosterolem Background— sitosterolemia is a recessively inherited disorder that results sitosterolemia is a rare, autosomal recessively inherited sterol storage http://circ.ahajournals.org/cgi/content/full/109/8/966

Published online before print February 9, 2004, doi:10.1161/01.CIR.0000116766.31036.03 This Article Abstract Full Text (PDF) All Versions of this Article: most recent 01.CIR.0000116766.31036.03v1 Alert me when this article is cited Alert me if a correction is posted Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Request Permissions PubMed PubMed Citation Articles by Salen, G. Related Collections Lipids Cardiovascular Pharmacology Primary prevention Circulation. Clinical Investigation and Reports Ezetimibe Effectively Reduces Plasma Plant Sterols in Patients With Sitosterolemia G. Salen, MD K. von Bergmann, MD P. Kwiterovich, MD J. Kane, MD, PhD S.B. Patel, MD, PhD T. Musliner, MD P. Stein, MD B. Musser, PhD , and the Multicenter Sitosterolemia Study Group From the UMDNJ-New Jersey Medical School, Newark, NJ, and VA Medical Center, East Orange, NJ (G.S.); Department of Clinical Pharmacology, University of Bonn (K.V.B., D.L.), Bonn, Germany; Johns Hopkins University (P.K.), Baltimore, Md; University of California at San Francisco (J.K.), San Francisco, Calif; Medical University of South Carolina (S.B.P.), Charleston, SC; and Merck Research Laboratories (T.M., P.S., B.M.), Rahway, NJ. Reprint requests to Dr Gerald Salen, University of Medicine and Dentistry of New Jersey, 185 S Orange Ave, MSB-H538, Newark, NJ 07103. E-mail

44. EL EZETIMIBE ES EFECTIVO EN LA SITOSTEROLEMIA Translate this page exclaim.gif (1443 bytes) EL EZETIMIBE ES EFECTIVO EN LA sitosterolemia Newark,EE.UU. El ezetimibe bloquea la absorción de colesterol y fitosteroles de http://www.siicsalud.com/dato/dat039/04823002.htm

SIIC Data Base EL EZETIMIBE ES EFECTIVO EN LA SITOSTEROLEMIA Newark, EE.UU. El ezetimibe bloquea la absorción de colesterol y fitosteroles de origen alimentario y biliar, reduciendo su concentración en pacientes afectados de sitosterolemia Circulation 109:966-971 Mar 2004 Autores: Salen G, Von Bergmann K, Lütjohann D y colaboradores Institución/es participante/s en la investigación: UMDNJ-New Jersey Medical School, Newark; VA Medical Center, East Orange, EE.UU.; Department of Clinical Pharmacology, University of Bonn, Bonn, Alemania Título original: [Ezetimibe Effectively Reduces Plasma Plant Sterols in Patients with Sitosterolemia] Título en castellano: El Ezetimibe Reduce en Forma Efectiva los Esteroles Vegetales Plasmáticos en Pacientes con Sitosterolemia Extensión del Resumen -SIIC en castellano: 2.67 páginas impresas en papel A4 Re SIIC editado en: Endocrinología y Metabolismo Cardiología Diagnóstico por Laboratorio Clínica Médica ... Profundizar ReSIIC Exclusivo suscriptores / assinantes Extensión:2.67 páginas impresas en papel A4 Los Re SIIC en castellano son resúmenes elaborados por el Comité de Redacción Científica de SIIC en base al texto original completo publicado por la fuente editorial.

45. UniProtKB/Swiss-Prot Entry Q9H222 [ABCG5_HUMAN] ATP-binding Cassette Sub-family Accumulation of dietary cholesterol in sitosterolemia caused by mutations Two genes that map to the STSL locus cause sitosterolemia genomic structure http://www.expasy.org/uniprot/Q9H222

ExPASy Home page Site Map Search ExPASy Contact us Swiss-Prot Search Swiss-Prot/TrEMBL Swiss-Prot/TrEMBL (full text) PROSITE SWISS-2DPAGE ENZYME NEWT Taxonomy HAMAP families ExPASy web site for The ExPASy Server requires Javascript to be fully functional. You may not see all the information available for this page (More information) UniProtKB/Swiss-Prot entry Entry info Name and origin References Comments ... Tools Note: most headings are clickable, even if they don't appear as links. They link to the user manual or other documents Entry information Entry name Primary accession number Secondary accession numbers None Entered in Swiss-Prot in Release 41, February 2003 Sequence was last modified in Release 41, February 2003 Annotations were last modified in Release 48, September 2005 Name and origin of the protein Protein name ATP-binding cassette sub-family G member 5 Synonym Sterolin-1 Gene name Name: From Homo sapiens (Human) TaxID Taxonomy ... References NUCLEOTIDE SEQUENCE, AND VARIANT GLU-604. TISSUE Liver DOI= 10.1126/science.290.5497.1771 ; PubMed=11099417 [ NCBI ExPASy EBI Israel ... Berge K.E.

46. CME : Cardiovascular Disease : BCM Continuing Medical Education sitosterolemia A Rare Genetic Disorder Leads to Insight into an ImportantPhysiological Process visit this site . This activity addresses the role of http://cme.bcm.tmc.edu/search/detail.cfm?cme=360

47. *605460 ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 8; ABCG8 In a GermanSwiss patient with sitosterolemia (210250), the first to be described In studies of a multiethnic cohort of patients with sitosterolemia http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:605460] -e

48. *605459 ATP-BINDING CASSETTE, SUBFAMILY G, MEMBER 5; ABCG5 sitosterolemia (210250) is a rare autosomal recessive disorder characterized by In studies of a large multiethnic cohort of patients with sitosterolemia http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:605459] -e

49. Health/Conditions And Diseases/Nutrition And Metabolism Disorders/Cholesterol An sitosterolemia An article about this uncommon genetic lipid disorder and the genethat is responsible for it. http://www.thedoctorslounge.net/dir/Health/Conditions_and_Diseases/Nutrition_and

Advertisement Powered by Careerbuilder Search for: Home Humor Advertising Contact ... Links Specialties Cardiology Chest diseases Dermatology Endocrinology ... Urology Other Sections Membership Research Tools Medical Tutorials Medical Software ... Specialized Centers Headlines: The Medical Website Directory Popular Categories Popular Links Web Sites report abuse/spam url: report-abuse.dmoz.org/?cat=Health/Conditions_and_D... Sitosterolemia An article about this uncommon genetic lipid disorder and the gene that is responsible for it. url: www.intelihealth.com/ipn/pcn/HN/s_r/00196749.htm mozilla.org url: www.mozilla.org/ Wikipedia url: en.wikipedia.org/ edit url: editors.dmoz.org/editors/editcat.cgi?cat=Health/Co... More Search All the Web AltaVista Gigablast Google USENET ... Yahoo In association with ODP Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Are you a physician or a nurse? Would you like to join us and help patients online by volunteering even a few minutes of your time? Get started here by becoming a member of The Doctors Lounge We subscribe to the HONcode principles.

50. Mapping A Gene Involved In Regulating Dietary Cholesterol Absorption . The Sitos sitosterolemia is a lipid disorder first described by Bhattacharyya and Connorin 1974 sitosterolemia shares several clinical characteristics with the http://www.jci.org/cgi/content/full/102/5/1041

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract Full Text (PDF) Submit a response ... Citation Map Services Email 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 Patel, S. B. Articles by Brownstein, M. J. J. Clin. Invest. Volume 102, Number 5, September 1998, 1041-1044 Mapping a Gene Involved in Regulating Dietary Cholesterol Absorption The Sitosterolemia Locus Is Found at Chromosome 2p21 Shailendra B. Patel Gerald Salen Hideki Hidaka Peter O. Kwiterovich Jr. Anton F.H. Stalenhoef Tatu A. Miettinen Scott M. Grundy Mi-Hye Lee Jeffrey S. Rubenstein Mihael H. Polymeropoulos , and Michael J. Brownstein Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, Texas 75235-9052; Department of Medicine, UMD-New Jersey Medical School, Newark, New Jersey 07103, and Gasteroenterology Research Laboratory, New Jersey Veterans Health Care System, East Orange, New Jersey 07018; Third Department of Medicine, Shiga University of Medical Science, Seta-Tsukinowa-cho, Otsu, Shiga 520-21, Japan;

51. Mapping A Gene Involved In Regulating Dietary Cholesterol Absorption . The Sitos The sitosterolemia Locus Is Found at Chromosome 2p21 Accumulation of DietaryCholesterol in sitosterolemia Caused by Mutations in Adjacent ABC http://www.jci.org/cgi/content/abstract/102/5/1041

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text Full Text (PDF) Submit a response ... Citation Map Services Email 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 Patel, S. B. Articles by Brownstein, M. J. J. Clin. Invest. Volume 102, Number 5, September 1998, 1041-1044 Mapping a Gene Involved in Regulating Dietary Cholesterol Absorption The Sitosterolemia Locus Is Found at Chromosome 2p21 Shailendra B. Patel Gerald Salen Hideki Hidaka Peter O. Kwiterovich Jr. Anton F.H. Stalenhoef Tatu A. Miettinen Scott M. Grundy Mi-Hye Lee Jeffrey S. Rubenstein Mihael H. Polymeropoulos , and Michael J. Brownstein Center for Human Nutrition, University of Texas Southwestern Medical Center, Dallas, Texas 75235-9052; Department of Medicine, UMD-New Jersey Medical School, Newark, New Jersey 07103, and Gasteroenterology Research Laboratory, New Jersey Veterans Health Care System, East Orange, New Jersey 07018; Third Department of Medicine, Shiga University of Medical Science, Seta-Tsukinowa-cho, Otsu, Shiga 520-21, Japan;

52. BENCHMARK Analysis Of Sitosterolemia The number indicates the strength of association to sitosterolemia. The pointsto the related MeSHD terms. Follow the green arrows to navigate MeSH-C http://www.bork.embl-heidelberg.de/g2d/exam_disease.pl?U50954

53. Complete List Of MeSH-C Terms Found In References Related To Complete list of MeSHC terms found in references related to sitosterolemia,G2D Home Xanthomatosis 25 Lipid Metabolism, Inborn Errors 21 http://www.bork.embl-heidelberg.de/g2d/list_mesh_disease.pl?U50954:Sitosterolemi

54. Server/Human/doc : A striking exception occurs in sitosterolemia, an autosomal recessive disordercharacterized by increased intestinal absorption and decreased biliary http://veille-srv.inist.fr/bin/dilib/AppliHuman2/doc.fibres.cgi?/applis/veille/h

55. Server/Human/doc : Abstract sitosterolemia is a rare autosomal recessive disorder characterizedby (a) intestinal hyperabsorption of all sterols, including cholesterol and http://veille-srv.inist.fr/bin/dilib/AppliHuman2/doc.fibres.cgi?/applis/veille/h

56. GeneCards Disorder Information: Sitosterolemia Blackwell Synergy Clin Genet, Vol 0, Issue 0, pp Two genes that map to the STSL locus cause sitosterolemia genomic structure Accumulation of dietary cholesterol in sitosterolemia caused by mutations http://genecards.bcgsc.bc.ca/cgi-bin/disodisp?Sitosterolemia

57. Ezetimibe - Resources From The U.S. Government sitosterolemia Evaluation, Treatment and Research at the . sitosterolemiaResearch Study - Treatment with Ezetimibe (SCH-58235). http://mark.mongabay.com/medications/gov/Ezetimibe.html

Ezetimibe Zetia Consumer Information : Zetia®. Brand Name: Zetia®. Active Ingredient: ezetimibe. Strength(s): 10 mg. Dosage Form(s): Tablet. Company Name: Merck.Schering-Plough Pharmaceuticals. ... http://www.nlm.nih.gov/medlineplus/druginfo/medmaster/a603015.html MedlinePlus Drug Information: Ezetimibe : Ezetimibe. ... reductase inhibitor (statin). Ezetimibe is in a class of medications called cholesterol-lowering medications. It works ... http://www.nlm.nih.gov/medlineplus/druginfo/uspdi/500435.html MedlinePlus Drug Information: Ezetimibe (Systemic) : Ezetimibe (Systemic). ... Description. Ezetimibe (e-ZET-e-mibe) is used to lower cholesterol and triglyceride (fat-like substances) levels in the blood. ... http://www.clinicaltrials.gov/show/NCT00045812 Clinical Trial: SCH-58235 (Ezetimibe) to Treat Homozygous ... : SCH-58235 (Ezetimibe) to Treat Homozygous Sitosterolemia. This study has been completed. Sponsored by. National Heart, Lung, and Blood Institute (NHLBI). Purpose ... EZETIMIBE : EZETIMIBE. (SECTION 1163). ... 2-Azetidinone, 1-(4-fluorophenyl)-3-[(3S)-3-(4-fluorophenyl)- 3-hydroxypropyl]-4-(4-hydroxyphenyl)-(3R,4S)-(Ezetimibe) (CAS No. ... http://thomas.loc.gov/cgi-bin/query/z?c107:S.2093.IS:

58. The American Journal Of Managed Care: Phytosterols May Play Role In Atherosclero He cited the rare example of patients with sitosterolemia, caused by Very highlevels of phytosterols (eg, in sitosterolemia) are associated with http://www.ajmc.com/Article.cfm?Menu=1&ID=2614

59. _04e Marfan s syndrome, cerebrotendinous xanthomatosis, and sitosterolemia.sitosterolemia is probably on the last part of the list, but we have to remember http://www.naika.or.jp/im2/42/07/04e.aspx

Premature Myocardial Infarction: Could I Ask How Old You Are? Kazuo Takahara, MD and Yasuhide Nakashima, MD Key words:  sitosterolemia, myocardial infarction If you think your patient is too young to have a coronary attack, you have to scrutinize the possible etiologic diseases causing juvenile coronary attack, such as familial hypercholesterolemia, homocysteinemia, disseminated intravascular coagulation, antiphospholipid antibody syndrome, protein C deficiency, protein S deficiency, anti-thrombin III deficiency, collagen disease, Kawasaki's disease, rheumatic fever, Marfan's syndrome, cerebrotendinous xanthomatosis, and sitosterolemia. Sitosterolemia is probably on the last part of the list, but we have to remember atherosclerotic complications with this disease can be preventable by administration of bile acid-binding resin, cholestyramine, after the correct diagnosis. Although myocardial infarction (MI) affects a lot of patients, MI caused by sitosterolemia is rare (only about 50 families have been reported) (1); many cardiologists have little knowledge of this preventable disorder. Sitosterolemia is an inherited lipid storage disease that was described first in 1974 by Bhattacharyya and Connor (2). In the early 1970s, they studied two sisters who complained of arthralgia and had tendon xanthomas and hemolytic anemia. They recognized the symptoms as those of autosomal dominant familial hypercholesterolemia. However, neither girl had elevated concentrations of blood cholesterol––a classic sign of the disease. Furthermore, neither of the sisters' parents had the disorder, suggesting autosomal recessive inheritance. After assessing the girls, they wrote a seminal paper (2), in which they reported the cause of the newly identified disorder as raised concentration of plant sterol, mainly sitosterol, in the sisters' blood.

60. _14c A 19year-old Man with Myocardial Infarction and sitosterolemia He was provedto have sitosterolemia, a rare hereditary disease with plant sterol http://www.naika.or.jp/im2/42/07/14c.aspx

A 19-year-old Man with Myocardial Infarction and Sitosterolemia Shingo Katayama, Toru Satoh, Takashi Yagi, Nobuyoshi Hirose*, Yasuo Kurita, Toshihisa Anzai, Yasushi Asakura, Tsutomu Yoshikawa, Hideo Mitamura and Satoshi Ogawa This is a case report of a 19-year-old man who presented with acute myocardial infarction with obstruction of one coronary artery and rapid progression to three vessels in 8 months. He was proved to have sitosterolemia, a rare hereditary disease with plant sterol storing, resulting in juvenile coronary artery disease. Atherosclerotic complications can be preventable by administration of bile acid-binding resin, after the correct diagnosis is made. We introduce this disease with a review of the literature. (Internal Medicine 42: 591–594, 2003) Key words:  juvenile myocardial infarction, plant sterol, cholestyramine, xanthomatosis Introduction We encountered a very rare case of sitosterolemia with xanthomatosis, a lipid metabolism abnormality causing devastating juvenile coronary atherosclerosis. It is inherited in an autosomal recessive manner, and only about 50 families with the disease have been reported in the literature (1), because this genetic mutation rarely occurs and many cardiologists, who often see these patients for the first time, have little knowledge of this preventable disorder and miss the diagnosis. Sitosterol is a plant sterol, which is poorly absorbed from the intestine and excreted readily, though some enters the body (2). A genetic defect disorganizes this mechanism and increases blood plant sterol with accumulation in blood vessels, resulting in xanthomatosis of tendons and atherosclerotic plaques in arteries.

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