21. SISTEMA DE INFORMACION SOBRE ENFERMEDADES RARAS EN ESPAÑOL (SIERE) Translate this page La sitosterolemia es una enfermedad extremadamente rara del metabolismo de loslípidos, caracterizada por el desarrollo de aterosclerosis (engrosamiento http://cisat.isciii.es/er/prg/er_bus2.asp?cod_enf=2953

22. Gene-DIsease Set For Chromosome 2 Q9H222, ATPbinding cassette, sub-family G, member 5 (Sterolin-1). defects in abcg5are a cause of sitosterolemia, also known as phytosterolemia or shellfish http://www.ebi.ac.uk/proteome/HUMAN/chromosomes/disease_set/2.html

Gene-Disease set for chromosome , according to SPTr. [Alternative view: Complete gene set Gene GDB GeneCards Location MIM Acc Nr Description Disease 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), an inherited liver disease of childhood. pfic2 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, also known as phytosterolemia or shellfish sterolemia, 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).

23. GNN - Articles Investigating cholesterol. Scientists identify genes linked to sitosterolemia;study finds influence of familial traits on response to diet. http://gnn.tigr.org/articles/01_01/Sitosterolemia.shtml

GNN Home About GNN Subscribe Contact Us ... Archives Investigating cholesterol Scientists identify genes linked to sitosterolemia; study finds influence of familial traits on response to diet By Edward R. Winstead January 16, 2001 wo groups of researchers have identified genes that may cause sitosterolemia, an uncommon genetic cholesterol disorder. The disorder is due to defects in cells that distinguish and selectively eliminate different types of dietary cholesterol. Sitosterolemia patients have elevated levels of cholesterol in blood and accumulate plant 'sterols' in tissues, putting them at risk for heart disease at an early age. (The primary plant sterol is sitosterol; hence the name, sitosterolemia.) Shailendra B. Patel, of the Medical University of South Carolina, in Charleston, and colleagues report this month that nine unrelated individuals with sitosterolemia have defects in the gene. Patel's group hypothesizes that the gene is important in the regulation of cholesterol absorption, a process that has long been a mystery in the lipid metabolism field. The findings appear in

24. Untitled A striking exception to this occurs in sitosterolemia, a rare, recessive humandisorder that causes increased intestinal absorption of dietary sterols http://www.nature.com/cgi-taf/DynaPage.taf?file=/nrg/journal/v2/n1/full/nrg0101_

25. Nature Publishing Group In sitosterolemia, a rare autosomal recessive disorder, affected individuals hyperabsorbnot only cholesterol but also all other sterols, including plant and http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v27/n1/full/ng0101_7

26. Directory :: Look.com sitosterolemia (3) Sites. sitosterolemia An article about this uncommongenetic lipid disorder and the gene that is responsible for it. http://www.look.com/searchroute/directorysearch.asp?p=434114

27. Entry Page Homo. OX NCBI_TaxID=9606; RN 1 RP SEQUENCE FROM NA, VARIANTS sitosterolemiaT231; Q-263; R-574 AND RP R-596, AND VARIANT C-54. RX http://srs.pku.edu.cn/srs7bin/cgi-bin/wgetz?-id 1nogg1KZa5o -e [SWISSNEW:'ABG8_H

28. Entry Page Graf GA, Yu L., Grishin NV, Schultz J., RA Kwiterovich P., Shan B., Barnes R., HobbsHH; RT Accumulation of dietary cholesterol in sitosterolemia caused by RT http://srs.pku.edu.cn/srs7bin/cgi-bin/wgetz?-id 1nogg1KZa5o -e [SWISSNEW:'ABG5_H

29. WebGuest - Open Directory : Health : Conditions And Diseases : Nutrition And Met the entire directory. Sites sitosterolemia A press release with a brief explanationof this disease. http://directory.webguest.com/index.cgi/Health/Conditions_and_Diseases/Nutrition

Browse thru 1000's of books about health, mind and body: About Us Privacy Statement Acceptable Use Policy Legal Notices ... Contact Us the entire directory only in Cholesterol_and_Other_Fats/Sitosterolemia Top Health Conditions and Diseases Nutrition and Metabolism Disorders ... Cholesterol and Other Fats : Sitosterolemia Sites: Sitosterolemia - A press release with a brief explanation of this disease. Sitosterolemia - An article about this uncommon genetic lipid disorder and the gene that is responsible for it. 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. Last update: 9:21 PT, Friday, January 26, 2001 Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor

30. Clinical Study: 01-H-0115, A Multicenter, Randomized, Double-Blind, Placebo-Cont Title A Multicenter, Randomized, DoubleBlind, Placebo-Controlled, Study to EvaluateSCH-58235 in Homozygous sitosterolemia Number 01-H-0115 Summary This http://clinicalstudies.info.nih.gov/detail/A_2001-H-0115.html

Protocol Number: 01-H-0115 Title: A Multicenter, Randomized, Double-Blind, Placebo-Controlled, Study to Evaluate SCH-58235 in Homozygous Sitosterolemia Number: 01-H-0115 Summary: Patients with homozygous sitosterolemia 10 years of age and older may be eligible for this study. Participants will have a medical history and physical examination and will be randomly assigned to one of two treatment groups. One group, which will include about 80 percent of all study participants, will take 10 mg of Ezetimibe a day, and the second group (20 percent of participants) will take a placebo (an inactive look-a-like pill). Patients will have 7 clinic visits during the 12-week study, when some or all of the following procedures and tests will be done: - Measurement of vital signs (heart rate, blood pressure, breathing rate and temperature) - Dietary maintenance - interview about how well that patient is adhering to the diet - Medication review - interview about other medications the patient is taking - Blood draw for tests - Urine sample for tests - Pregnancy test for women of childbearing potential - Electrocardiogram (ECG) to measure the electrical activity of the heart - Blood draw to determine sitosterol, other plant sterol levels, and lipid levels (cholesterol and other blood lipid concentrations)

31. Sitosterolemia Syndrome. sitosterolemia sitosterolemia http//www.musc.edu A pressrelease with a brief explanation of this disease. sitosterolemia http://www.medlina.com/sitosterolemia.htm

Academic Medicine Addiction Aging AIDS-HIV ... Women's Health The Web MEDLINA.com (partial) CDC WHO FDA NIH CATEGORIES Search: All Products Books Magazines Popular Music Classical Music Video DVD Baby Electronics Software Outdoor Living Wireless Phones Keywords: Home Up Selective Mutism Shwachman-Diamond Syndrome Sitosterolemia Smith Lemli Opitz Syndrome Smith-Magenis Syndrome Stickler Syndrome Sitosterolemia Sitosterolemia - http://www.musc.edu A press release with a brief explanation of this disease. Sitosterolemia - http://www.intelihealth.com An article about this uncommon genetic lipid disorder and the gene that is responsible for it. Scientists Closer To Locating Gene That May Explain Cholesterol Absorption - http://news.medscape.com An article about a study of 10 families with sitosterolemia, a rare, recessively inherited disease. SUBCATEGORIES Up powered by A merica M edica, I nc. info@medlina.com New York City

32. Sitosterolemia Website Results :: Linkspider UK sitosterolemia Websites from the Linkspider UK. sitosterolemia Directory.Complete Results for sitosterolemia Related Topics. sitosterolemia http://www.linkspider.co.uk/Health/ConditionsandDiseases/NutritionandMetabolismD

Sitosterolemia Websites from Linkspider UK Keyword: Sitosterolemia Linkspider UK Directory Sitosterolemia Search for Directory Tree: Top Health Conditions and Diseases Nutrition and Metabolism Disorders ... Cholesterol and Other Fats : Sitosterolemia (3) Add URL Advertise Here! Personalize Amazon ... Sitosterolemia - A press release with a brief explanation of this disease. Sitosterolemia - An article about this uncommon genetic lipid disorder and the gene that is responsible for it. 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.

33. Synapse Mobile: June 14, 2001 - PageTwo : Advances On The Cholesterol Front (Pri of the new disease, autosomal recessive hypercholesterolemia (ARH), comes only afew 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.

34. Katalog Health Conditions_and_Diseases Translate this page sitosterolemia - A press release with a brief explanation of this disease.sitosterolemia - An article about this uncommon genetic http://www.netz-tipp.de/kat/Health/Conditions_and_Diseases/Nutrition_and_Metabol

35. The Scientist :: Cholesterol Efflux Genes sitosterolemia is a rare inherited disease in which plantderived sterols (sitosterol)accumulate in the body and lead to premature atherosclerotic plaques. http://www.biomedcentral.com/news/20021119/02

Previous Next Cholesterol efflux genes Tudor P Toma Sitosterolemia is a rare inherited disease in which plant-derived sterols (sitosterol) accumulate in the body and lead to premature atherosclerotic plaques. The disease is caused by mutations in either of two ATP-binding cassette (ABC) half-transporters, ABCG5 or ABCG8 , but the exact role of these genes in the trafficking of sterols has been unclear. In November 18 early edition of Proceedings of the National Academy of Sciences , Liqing Yu and colleagues at the University of Texas Southwestern Medical Center at Dallas, USA, show that ABCG5 and ABCG8 are the major hepatobiliary transporter of both dietary and endogenously synthesized neutral sterols ( PNAS , cgi/doi/10.1073/pnas.252582399, November 18, 2002). Yu et al. generated mice homozygous for a disrupted Abcg5 and Abcg8 allele (G5G8 ), which they examined for the absorption and secretion of the major dietary plant and animal sterols. They observed that G5G8 mice had a two to threefold increase in the fractional absorption of dietary plant sterols, which was associated with an approximate 30-fold increase in plasma sitosterol. In addition they also observed a selective and profound reduction in biliary cholesterol levels and an accumulation of cholesterol in the liver after cholesterol feeding. "The G5G8 mice generated here provide a useful animal model to further probe the trafficking of sterols into and out of the body and to screen for agents that may affect this important pathway", conclude the authors.

36. Untitled Two genes that map to the STSL locus cause sitosterolemia genomic structure andspectrum of mutations involving sterolin1 and sterolin-2 encoded by ABCG5 and http://www.faseb.org/genetics/ashg01/f1030.htm

37. Untitled Program Nr 1717 Finemapping and Genetic analyses of sitosterolemiaFounder effects in at least three geographic areas. MH Lee http://www.faseb.org/genetics/ashg00/f1717.htm

38. À¯ÀüÇРƯ·Ð 3. ABCG5 8 (?) Berge et al (2000) Accumulation of dietary cholesterolin sitosterolemia caused by mutations in adjacent ABC transporters, Science 290 http://www.hallym.ac.kr/~gene/MoleGene/molgen/Hmolgen.html

Lund et al., Liver X receptor agonists as potential therapeutic agents for dyslipidemia and atherosclerosis. Arterioscler Lund et al., Liver X receptor agonists as potential therapeutic agents for dyslipidemia and atherosclerosis. Arterioscler ... requires ATP-binding cassette transporters G5 and G8. JBC

39. Technology Abstracts The gene maps to human chromosome 2, which has been identified asplaying a role in the genetic disorder sitosterolemia. Patients http://ott.od.nih.gov/db/abstract.asp?refno=554

40. Helen H. Hobbs, M.D.; Genetics And Development genes defective in two autosomal recessive forms of severe hypercholesterolemia,autosomal recessive hypercholesterolemia (ARH) and sitosterolemia, which are http://swnt240.swmed.edu/gradschool/webrib/hobbs.htm

Helen H. Hobbs, M.D. Professor, Department of Molecular Genetics Director and Professor, Eugene McDermott Center for Human Growth and Development Genetics and Development Office: (214) 648-6724 Fax: (214) 648-7539 Building: L, Room: 5.134 Email: helen.hobbs@utsouthwestern.edu and , which encode proteins that play crucial roles in the uptake and excretion of dietary sterols. A unique feature of this inherited form of severe hypercholesterolemia is the extreme responsiveness of the plasma cholesterol level to changes in dietary sterol intake. We studying the mechanism by which ABCG5 and ABCG8 protect against the accretion of sterols by the body at the molecular, cellular and whole animal level. These mechanistic studies are being complemented with family and population studies in humans to examine the effects of sequence variations in these genes on plasma sterol levels, the efficiency of cholesterol absorption, and the development of gallstones. Selected Publications: Arca, M., Zuliani, G., Wilund, K., Campagna, F., Fellin, R., Bertolini, S., Calandra, S., Ricci, G., Glorioso, N., Maioli, M., Pintus, P., Carru, C., Cossu, F., Cohen, J., Hobbs, H.H (2002) Autosomal recessive hypercholesterolemia in Sardinia, Italy, and mutations in

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