21. Tangier Disease tangier disease. http://www.meritcare.com/hwdb/showTopic.asp?pd_hwid=nord385

22. Tangier Disease tangier disease. tangier disease (TD) is a genetic disorder of cholesterol transport named for the secluded island of Tangier, located http://www.geocities.com/disabilitiesinaction/tangier.html

Tangier Disease Tangier Disease (TD) is a genetic disorder of cholesterol transport named for the secluded island of Tangier, located off the coast of Virginia. TD was first identified in a five-year-old inhabitant of the island who had characteristic orange tonsils, very low levels of high density lipoprotein (HDL) or 'good cholesterol', and an enlarged liver and spleen. TD is caused by mutations in the ABC1 (ATP-binding cassette) gene on chromosome 9q31. ABC1 codes for a protein that helps rid cells of excess cholesterol. This cholesterol is then picked up by HDL particles in the blood and carried to the liver, which processes the cholesterol to be reused in cells throughout the body. Individuals with TD are unable to eliminate cholesterol from cells, leading to its buildup in the tonsils and other organs. The discovery of this important cholesterol transport gene may lead to a better understanding of the inverse relationship between HDL levels and coronary artery disease, an important killer in the US. New drugs that regulate HDL levels may be developed and such drugs would not only help individuals with TD, but also people with more common disorders such as familial HDL deficiency. This is a good illustration of how research into rare diseases can sometimes help more common disorders.

23. Tangier Disease tangier disease. July 9, 2001. Here Subpopulations of high density lipoproteins in homozygous and heterozygous tangier disease. Tangier http://www.genomenewsnetwork.org/articles/07_01/Tangier_lit.shtml

Home About Topics Subscribe Tangier disease July 9, 2001 Here GNN posts abstracts to articles about Tangier disease related to the feature story Trafficking in Cholesterol: Investigating the Human ABCA1 Gene Subpopulations of high density lipoproteins in homozygous and heterozygous Tangier disease. Atherosclerosis 2001 May;156(1):217-25. Expression of the ATP-binding cassette transporter gene ABCG1 (ABC8) in Tangier disease. Biochem Biophys Res Commun 2001 May 18;283(4):821-30. Novel polymorphisms in promoter region of atp binding cassette transporter gene and plasma lipids, severity, progression, and regression of coronary atherosclerosis and response to therapy. Circ Res 2001 May 11;88(9):969-73. Structure, function and regulation of the ABC1 gene product. Curr Opin Lipidol 2001 Apr;12(2):129-40. A point mutation in ABC1 gene in a patient with severe premature coronary heart disease and mild clinical phenotype of Tangier disease. Atherosclerosis 2001 Feb 15;154(3):599-605. Cellular cholesterol efflux is modulated by phospholipid-derived signaling molecules in familial HDL deficiency/Tangier disease fibroblasts.

24. Health Library - tangier disease. Important It is possible that the main title of the report tangier disease is not the name you expected. Please http://yalenewhavenhealth.org/library/healthguide/IllnessConditions/topic.asp?hw

25. TD ( Tangier Disease ) - General Practice Notebook TD ( tangier disease ). tangier disease (TD) was first discovered in 1961 in two siblings living on Tangier Island. Features autosomal http://www.gpnotebook.co.uk/cache/-1791688650.htm

TD ( Tangier disease ) Tangier disease (TD) was first discovered in 1961 in two siblings living on Tangier Island. Features: autosomal co-dominant condition is characterized in the homozygous state by the absence of HDL-cholesterol (HDL-C) from plasma, hepatosplenomegaly, peripheral neuropathy, a syringomyelia-like syndrome in the presence of lymphadenopathy, and frequently premature coronary artery disease (CAD) heterozygotes, HDL-C levels are about one-half those of normal individuals. It is the impaired cholesterol efflux from macrophages leads to the presence of foam cells throughout the body, which may explain the increased risk of coronary heart disease in some TD families. Also the accumulation of cholesteryl esters in macrophages, causes enlargement of the liver, spleen and tonsils. Experimental evidence suggests that defects in human ATP cassette-binding transporter 1 (ABC1), encoding a member of the ABC transporter superfamily, are the cause of TD. This is a cell-membrane protein that mediates the secretion of excess cholesterol from cells into the HDL metabolic pathway Click here for more information...

26. TD ( Tangier Disease ) - General Practice Notebook TD ( tangier disease ). Medical search. tangier disease (TD) was first discovered in 1961 in two siblings living on Tangier Island. Features http://www.gpnotebook.co.uk/medwebpage.cfm?ID=-1791688650

27. Entrez PubMed Comment in Nat Genet. 1999 Aug;22(4)3168. Click here to read Mutations in ABC1 in tangier disease and familial high-density lipoprotein deficiency. http://www.biomedcentral.com/pubmed/10431236

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 Nat Genet. 1999 Aug;22(4):336-45. Related Articles, Links Comment in: Nat Genet. 1999 Aug;22(4):316-8. Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency. Brooks-Wilson A, Marcil M, Clee SM, Zhang LH, Roomp K, van Dam M, Yu L, Brewer C, Collins JA, Molhuizen HO, Loubser O, Ouelette BF, Fichter K, Ashbourne-Excoffon KJ, Sensen CW, Scherer S, Mott S, Denis M, Martindale D, Frohlich J, Morgan K, Koop B, Pimstone S, Kastelein JJ, Hayden MR, et al.

28. Entrez PubMed HDL deficiency and atherosclerosis lessons from tangier disease. Male; Middle Aged; tangier disease/complications*; tangier disease/genetics. Substances http://www.biomedcentral.com/pubmed/14746569

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 J Intern Med. 2004 Feb;255(2):299-301. Related Articles, Links HDL deficiency and atherosclerosis: lessons from Tangier disease. Hovingh GK, Kuivenhoven JA, Bisoendial RJ, Groen AK, van Dam M, van Tol A, Wellington C, Hayden MR, Smelt AH, Kastelein JJ. Publication Types: Case Reports Letter PMID: 14746569 [PubMed - indexed for MEDLINE] Summary Brief Abstract Citation ASN.1

29. ORPHANET - Rare Diseases - Orphan Drugs DISEASE tangier disease, tangier disease is recessively inherited, which means that both parental chromosomes should carry a mutation of the ABC1 gene. http://www.orpha.net/consor/cgi-bin/OC_Exp.php?Lng=GB&Expert=31150

30. ORPHANET® Tangier Disease tangier disease. tangier disease is recessively inherited, which means that both parental chromosomes should carry a mutation of the ABC1 gene. http://www.orpha.net/static/GB/tangierdisease.html

31. Health Library - prevention. tangier disease. Synonyms Disorder Subdivisions General Discussion Resources National Organization for Rare Disorders. http://12.42.224.152/Library/HealthGuide/IllnessConditions/topic.asp?hwid=nord38

32. Tangier Disease tangier disease. Printable version. References. Oram JF. Molecular basis of cholesterol homeostasis lessons from tangier disease and ABCA1. Trends Mol Med. http://www.humpath.com/article.php3?id_article=3061

33. NEJM -- Tangier Disease: One Explanation Of Lipid Storage Original Article from The New England Journal of Medicine tangier disease one explanation of lipid storage. http://content.nejm.org/cgi/content/abstract/299/10/519

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 299:519-521 September 7, 1978 Number 10 Next Tangier disease: one explanation of lipid storage PN Herbert, T Forte, RJ Heinen, and DS Fredrickson Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited ... PubMed Citation Abstract Normal high-density lipoproteins are absent from plasma in Tangier disease, and the disorder is characterized by accumulation of cholesteryl esters in several tissues, particularly those of the reticuloendothelial system. Electron microscopy of the abnormal high-density lipoproteins in the plasma of three patients with Tangier diseases revealed large (68-nm), flattened, translucent particles in all cases. These particles were most abundant in the plasma of the splenectomized patient. Restriction of dietary fat eliminated or drastically reduced the numbers of these particles among the Tangier high-density lipoproteins. Thus abnormal products of chylomicron metabolism that appear to occur in plasma in this disorder may be targets for phagocytosis and may be at least one source of the cholesteryl esters that accumulate in reticuloendothelial tissues in Tangier disease. This article has been cited by other articles: Aiello, R. J., Brees, D., Francone, O. L. (2003). ABCA1-Deficient Mice: Insights Into the Role of Monocyte Lipid Efflux in HDL Formation and Inflammation.

34. NEJM -- Metabolism Of High-density Lipoprotein Apolipoproteins In Tangier Diseas Original Article from The New England Journal of Medicine Metabolism of highdensity lipoprotein apolipoproteins in tangier disease. http://content.nejm.org/cgi/content/abstract/299/17/905

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Volume 299:905-910 October 26, 1978 Number 17 Next Metabolism of high-density lipoprotein apolipoproteins in Tangier disease EJ Schaefer, CB Blum, RI Levy, LL Jenkins, P Alaupovic, DM Foster, and HB Brewer Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited ... PubMed Citation Abstract To define the metabolic defect in Tangier disease, we studied the kinetics of [125I]-high-density lipoprotein apolipoproteins (apolipoproteins A-I and A-II) in 11 normal subjects, two obligate heterozygotes, and two homozygotes. Mean synthesis of apolipoproteins A-1 and A-11 was 8.24 mg per kilogram per day in the normal group, 7.94 in heterozygotes and 3.66 in homozygotes. The mean plasma-residence time for both apolipoproteins was 5.21 days in the normal subjects, 3.41 days in heterozygotes, and 0.52 days in homozygotes. In normal subjects and heterozygotes the apolipoproteins were catabolized at similar rates, whereas in homozygotes apolipoprotein A-I was catabolized at a much greater fractional rate than apolipoprotein A-II. These findings indicate that the deficiency of these apolipoproteins in Tangier disease is largely due to rapid and altered catabolism. This article has been cited by other articles: Selva, D. M., Hirsch-Reinshagen, V., Burgess, B., Zhou, S., Chan, J., McIsaac, S., Hayden, M. R., Hammond, G. L., Vogl, A. W., Wellington, C. L. (2004). The ATP-binding cassette transporter 1 mediates lipid efflux from Sertoli cells and influences male fertility.

35. PharmGKB: Tangier Disease tangier disease. Alternate Names A alphalipoprotein Neuropathy; Aalphalipoprotein Neuropathies; A-alphalipoprotein Neuropathy; Analphalipoproteinemia http://www.pharmgkb.org/do/serve?objId=PA445812&objCls=Disease

36. Penn State Faculty Research Expertise Database (FRED) , Lipoprotein Deficiency Disease, HDL, Familial, tangier disease Neuropathy. alpha......Faculty Research Expertise Database. tangier disease. http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D013631

37. DISEASE: Tangier Disease tangier disease Evaluation at the NIH patientrecruitment.nhlbi.nih.gov The National Heart, Lung and Blood Institute is actively seeking patients with tangier http://disease.bigtome.com/big/page/Tangier_Disease

DISEASE: Featured Web Pages Tangier Disease Evaluation at the NIH - patientrecruitment.nhlbi.nih.gov The National Heart, Lung and Blood Institute is actively seeking patients with tangier disease to receive free evaluation as part of clinical research studies. Tangier - Cheap Hotel Rates - www.nextag.com Before booking a hotel, compare hotel room rates at Nextag. Disease Guide at WebMD - www.medscape.com Disease guide at WebMD. Read articles, news, treatment information and a wealth of health care advice in our comprehensive online guide. Join and receive a free newsletter. Categories (1-1 of 1) Health: Conditions_and_Diseases: Nutrition_and_Metabolism_Disorders: Cholesterol_and_Other_Fats: Tangier Web Pages Tangier Disease An explanation of this disease and its name, its causes and treatment. - http://www.ncbi.nlm.nih.gov/disease/tangier.html Health: Conditions and Diseases: Nutrition and Metabolism Disorders: Cholesterol and Other Fats: Tangier Tangier Disease by Jackie Newman An article about this rare disease, its history, characteristics of the disease and the treatments. - http://www-personal.umd.umich.edu/~jcthomas/JCTHOMAS/1997%20Case%20Studies/J.%20Newman1.html

38. Disease Directory : Tangier Disease An explanation of this disease and its name, its causes and treatment. Date...... Directory Listing. Title tangier disease http://www.diseasedirectory.net/detailed/7233.aspx

Wednesday, June 02, 2004 Nutrition and Metabolism Disorders Cholesterol and Other Fats Cerebrotendinous Xanthomatosis Fabry's ... Tangier : Tangier Disease Directory Listing Title: Tangier Disease Description: An explanation of this disease and its name, its causes and treatment. Date Added: 2/4/2004 1:24:23 PM URL: http://www.ncbi.nlm.nih.gov/disease/tangier.html

39. Disease Directory : Tangier Disease By Jackie Newman Diseases Nutrition and Metabolism Disorders Cholesterol and Other Fats TaySachs tangier disease by Jackie Newman. Directory Listing. http://www.diseasedirectory.net/detailed/7234.aspx

Wednesday, June 02, 2004 Nutrition and Metabolism Disorders Cholesterol and Other Fats Cerebrotendinous Xanthomatosis Fabry's ... Tay-Sachs : Tangier Disease by Jackie Newman Directory Listing Title: Tangier Disease by Jackie Newman Description: An article about this rare disease, its history, characteristics of the disease and the treatments. Date Added: 2/4/2004 1:24:23 PM URL: http://www-personal.umd.umich.edu/~jcthomas/JCTHOMAS/1997%20Case%20Studies/J.%20Newman1.html

40. Assignment Of Tangier Disease To Chromosome 9q31 By A Graphical Assignment of tangier disease to chromosome 9q31 by a graphical linkage exclusion strategy Homozygous tangier disease and cardiovascular disease. http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v20/n1/full/ng0998_9

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