21. Health Library - Tangier Disease tangier disease. Synonyms Disorder Subdivisions General DiscussionResources National Organization for Rare Disorders. Important It http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

22. Health Library - Tangier Disease tangier disease. Synonyms Disorder Subdivisions General DiscussionResources National Organization for Rare Disorders. Important It http://www.laurushealth.com/library/healthguide/illnessconditions/topic.asp?hwid

23. Health Library - Tangier Disease Saint Luke's Health System eLibrary. tangier disease. Synonyms Disorder SubdivisionsGeneral Discussion Resources National Organization for Rare Disorders. http://hvelink.saint-lukes.org/library/healthguide/IllnessConditions/topic.asp?h

24. CELLULAR CHOLESTEROL EFFLUX IN HETEROZYGOTES FOR TANGIER DISEASE IS MARKEDLY RED TEKTRAN. CELLULAR CHOLESTEROL EFFLUX IN HETEROZYGOTES FOR tangier disease IS MARKEDLYREDUCED AND CORRELATES WITH HIGH DENSITY LIPOPROTEIN CHOLESTEROL AND SIZE. http://www.nal.usda.gov/ttic/tektran/data/000011/16/0000111687.html

TEKTRAN CELLULAR CHOLESTEROL EFFLUX IN HETEROZYGOTES FOR TANGIER DISEASE IS MARKEDLY REDUCED AND CORRELATES WITH HIGH DENSITY LIPOPROTEIN CHOLESTEROL AND SIZE Author(s): BROUSSEAU MARGARET E EBERHART GRETCHEN P DUPUIS JOSEE ASZTALOS BELA GOLDKAMP ALLISON L SCHAEFER ERNST J FREEMAN MASON W Interpretive Summary: Keywords: lipoproteins nutrition aging coronary heart disease genetics regulation atherosclerosis Contact: JEAN MAYER HUMAN NUTR. RE 711 WASHINGTON ST., TUFTS BOSTON MA 02111 FAX: (617)556-3103 Email: mbrousseau@hnrc.tufts.edu Approved Date: TEKTRAN United States Department of Agriculture Agricultural Research Service Updated:

25. HUM-MOLGEN: The Inside Story Of Tangier Disease (The Scientist) The inside story of tangier disease (The Scientist), September, 27 20011554, tangier disease is a rare genetic disorder of lipid metabolism. http://www.hum-molgen.de/NewsGen/09-2001/msg31.html

home genetic news bioinformatics biotechnology ... register for news alert The inside story of Tangier Disease (The Scientist) September, 27 2001 15:54 Tangier disease is a rare genetic disorder of lipid metabolism. Study of this disease has provided important insight into cholesterol metabolism and a common metropolitan disease, coronary artery disease. This article presented interviews with some of the key players: Michael R. Hayden, director and senior scientist, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Canada; Stephan Rust, cholesterol metabolism group leader at the Institut für Arterioskleroseforschung an der Westfälischen Wilhelms-Universistät; and Gerd Schmitz, a physician and director of the Institut for Clinical Chemistry and Laboratory Medicine, University Hospital, Regensburg. Full story in The Scientist, Oct 1, 2001 Author: awilo Generated by News Editor 2.0 by Kai Garlipp WWW: Kai Garlipp Frank S. Zollmann HUM-MOLGEN

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

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP 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 Table of Contents Find Similar Articles in the Journal Notify a friend about this article Add to Personal Archive ... Related Articles in Medline Articles in Medline by Author: Schaefer, E. J. Brewer, H. B. Medline 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: Kiss, R. S., McManus, D. C., Franklin, V., Tan, W. L., McKenzie, A., Chimini, G., Marcel, Y. L. (2003). The Lipidation by Hepatocytes of Human Apolipoprotein A-I Occurs by Both ABCA1-dependent and -independent Pathways.

27. NEJM -- Apoprotein A-I Synthesis In Normal Intestinal Mucosa And In Tangier Dise Next Next. Apoprotein AI synthesis in normal intestinal mucosa andin tangier disease RM Glickman, PH Green, RS Lees, and A Tall. http://content.nejm.org/cgi/content/abstract/299/26/1424

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Previous Volume 299:1424-1427 December 28, 1978 Number 26 Next Apoprotein A-I synthesis in normal intestinal mucosa and in Tangier disease RM Glickman, PH Green, RS Lees, and A Tall Table of Contents Find Similar Articles in the Journal Notify a friend about this article Add to Personal Archive ... Related Articles in Medline Articles in Medline by Author: Glickman, R. M. Tall, A. Medline Citation Abstract This article has been cited by other articles: Drobnik, W., Mollers, C., Resink, T., Schmitz, G. (1995). Activation of Phosphatidylinositol-Specific Phospholipase C in Response to HDL3 and LDL Is Markedly Reduced in Cultured Fibroblasts From Tangier Patients. Arterioscler Thromb Vasc Biol [Abstract] [Full Text] J. Lipid Res. [Abstract] [Full Text] Drobnik, W., Liebisch, G., Biederer, C., Trumbach, B., Rogler, G., Muller, P., Schmitz, G. (1999). Growth and Cell Cycle Abnormalities of Fibroblasts From Tangier Disease Patients. Arterioscler Thromb Vasc Biol [Abstract] [Full Text] Rogler, G., Trumbach, B., Klima, B., Lackner, K. J., Schmitz, G. (1995). HDL-Mediated Efflux of Intracellular Cholesterol Is Impaired in Fibroblasts From Tangier Disease Patients.

28. Health Library - Tangier Disease FREE. tangier disease. Synonyms Disorder Subdivisions General DiscussionResources National Organization for Rare Disorders. Important http://hvlib.integris-health.com/Library/HealthGuide/IllnessConditions/topic.asp

29. Msx2 FEBRUARY 2000. Abc1 Knockouts tangier disease. tangier disease Synonyms PubMedSearch tangier disease. Mammalian Homologies Other Database Links. http://tbase.jax.org/docs/Abc1.html

Current Features in TBASE by Anna V. Anagnostopoulos FEBRUARY 2000 Tangier Disease Synonyms: Alpha High-Density Lipoprotein Deficieny Alphalipoproteinemia Analphalipoproteinemia Familial Alpha-Lipoprotein Deficiency Familial High-Density Lipoprotein Deficiency February 2000 features mice harboring a targeted mutation of the murine Abc1 gene , encoding ATP-binding cassette 1 (chromosome 4). et al. report that Abc1 homozygous null mice exhibit morphologic alterations and disturbances in their lipoprotein metabolism in concordance with Tangier disease (OMIM: and ). In addition, both Abc1-null mutant and TD cells displayed an extensively expanded Golgi complex. Loss of ABC1 resulted in marked impairment of the secretory pathway involving caveolin. FRAP analysis in vital cells showed that the Golgi secretory route involving vesicular budding was disturbed. Finally, both Abc1-null cells and TD cells were shown to be unable to release cholesterol and phospholipids in the presence of apo-AI, whereas overexpression of human ABC1 resulted in increased export of these lipids from the cell.

30. TD ( Tangier Disease ) - General Practice Notebook Notebook. TD ( tangier disease ). tangier disease (TD) was first discoveredin 1961 in two siblings living on Tangier Island. Features 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. Experimetnal 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...

31. Dominique Verlaan - Cholesterol Efflux... Dominique Verlaan. Cholesterol Efflux tangier disease and the Abc1 gene. TangierDisease (TD) is a rare autosommaly recessive inherited Mendelian disease. http://ww2.mcgill.ca/biology/undergra/c524a/dom.htm

Back to main menu Dominique Verlaan Cholesterol Efflux: Tangier Disease and the Abc1 gene Tangier Disease (TD) is a rare autosommaly recessive inherited Mendelian disease. Affected individuals usually present very large orange tonsils, enlarged liver, spleen and lymph nodes and most importantly have reduced level of high density lipoproteins (HDL) in their plasma as well as hypocholesterolemia. TD was previously linked to chromosome 9q31. Brooks-Wilson et al. (1999) have done linkage analysis in two TD families in the region of 9q31 and have found a 10 cM candidate region. Mutation screening was performed on three possible gene found in that region, which could be involved in cholesterol efflux. The two TD families were found to have mutations in the Abc1 gene. Those mutations segregate with complete concordance within the family. TD and familial HDL deficiency (FHA) are also shown to be allelic disorder. The Abc1 gene encodes an ATP-binding cassette transporter and is a key gatekeeper in intracellular cholesterol transport. It is part of a superfamily of conserved protein involved in membrane transport of diverse substrates such as amino acids, peptides, vitamins and steroid hormones. Orso et al.

32. GNN - Articles tangier disease. July 9, 2001. Here Subpopulations of high density lipoproteinsin homozygous and heterozygous tangier disease. Tangier http://gnn.tigr.org/articles/07_01/Tangier_lit.shtml

GNN Home About GNN Subscribe Contact Us ... Archives 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.

33. NORD - National Organization For Rare Disorders, Inc. tangier disease. To purchase fulltext report ($7.50) Copyright 1987, 1988, 1990,1999 Synonyms of tangier disease Alpha High-Density Lipoprotein Deficieny; http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Tangier Disea

34. Tangier Disease Resources On The Internet tangier disease. Health News, tangier disease An article about his disease,its symptoms, clinical symptoms, diagnosis and some dietary changes. http://www.healthcyclopedia.com/tangier_disease.html

Home Health Conditions by Category ... Contact Us Tangier Disease Health News Search millions of published articles for news on Tangier Disease The eLibrary newspaper and magazine archive contains articles from current and back issues of hundreds of publications, including: Modern Medicine Aging The Ardell Wellness Report HealthFacts The Journal of Environmental Health Medical Post Medical Update Men's Health and the National Women's Health Report Note: To access the full text of articles, sign up for a seven-day no-risk free trial subscription to eLibrary. Web Directory Web Links: Tangier Disease - An article about his disease, its symptoms, clinical symptoms, diagnosis and some dietary changes. Tangier Disease - An explanation of this disease and its name, its causes and treatment. Tangier Disease by Jackie Newman - An article about this rare disease, its history, characteristics of the disease and the treatments. The Web Directory section is adapted from the Open Directory Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor

35. Mioti: Medical Condition not available. NORD tangier disease. Information...... Mioti. Condition tangier disease. Neuromuscular tangier disease. http://www.mioti.com/cat/condition/condition.asp?Cat=TangierDisease

36. ABCA1 CM990001, 339, GTGGCG, Val-Ala, tangier disease, 2. CM993803, 527, gCGG-TGG,Arg-Trp, tangier disease, 3. CM990002, 530, TGG-TCG, Trp-Ser, tangier disease,2. http://www.uwcm.ac.uk/uwcm/mg/ns/1/305294.html

Nucleotide substitutions (missense / nonsense) Accession Number Codon Nucleotide Amino acid Phenotype Reference tCGT-TGT Arg-Cys Hypoalphalipoproteinaemia GTG-GCG Val-Ala Tangier disease gCGG-TGG Arg-Trp Tangier disease TGG-TCG Trp-Ser Tangier disease CAG-CGG Gln-Arg Tangier disease TACg-TAG Tyr-Term Tangier disease ATAt-ATG Ile-Met Higher plasma HDL cholesterol, association with cCGA-TGA Arg-Term Hypoalphalipoproteinaemia ACC-ATC Thr-Ile Tangier disease AAT-AGT Asn-Ser Tangier disease GCG-GTG Ala-Val Tangier disease GCC-GAC Ala-Asp Tangier disease ATG-ACG Met-Thr Hypoalphalipoproteinaemia tGAT-AAT Asp-Asn Tangier disease gTGT-CGT Cys-Arg Tangier disease TCG-TTG Ser-Leu HDL deficiency cAAT-CAT Asn-His Tangier disease gCGG-TGG Arg-Trp Tangier disease aCGA-TGA Arg-Term Hypoalphalipoproteinaemia CCG-CTG Pro-Leu Hypoalphalipoproteinaemia References 1 - Wang (2000) Arterioscler Thromb Vasc Biol 2 - Bodzioch (1999) Nat Genet ... Biochim Biophys Acta HGMD

37. International Task Force For Prevention Of Coronary Heart Disease - Slide Kit Main clinical features of tangier disease. It is unclear at present if Tangierdisease is invariably associated with premature coronary heart disease. http://www.chd-taskforce.de/slidekit/kit6/slide20.htm

Home Talk to us International Task Force for Prevention of Coronary Heart Disease Slide Kit 6 - Slide 20 Slide 20 (click here for details) Main clinical features of Tangier disease Tangier disease is associated clinically with enlarged orange-coloured tonsils, the presence of foam cells in the intestinal and colonic mucosa, hepatosplenomegaly, peripheral neuropathy, HDL deficiency, thrombocytopenia and disorders of platelet function. It is unclear at present if Tangier disease is invariably associated with premature coronary heart disease. The images on this slide show the colonic mucosa of a patient with Tangier disease and a biopsy from this mucosa showing the presence of cholesterol laden macrophage foam cells.

38. International Task Force For Prevention Of Coronary Heart Disease - Slide Kit Slide Kit 6 Slide 19. Slide 19 (click here for details). Mutations inthe ATP binding cassette transporter gene (ABC1) causes tangier disease. http://www.chd-taskforce.de/slidekit/kit6/slide19.htm

Home Talk to us International Task Force for Prevention of Coronary Heart Disease Slide Kit 6 - Slide 19 Slide 19 (click here for details) Mutations in the ATP binding cassette transporter gene (ABC1) causes Tangier disease One of the most exciting findings to emerge from lipid research in recent years has been the discovery that Tangier disease, a condition which is associated in the homozygous state with almost complete lack of circulating HDL and cholesterol accumulation in macrophages, is due to mutations in the ATP binding cassette transporter gene 1 (ABC1). This slide shows the structure of the ABC1 protein as it is located in the plasma membrane and also indicates the position of the amino acid changes which have been described in Tangier disease.

39. April, 2001 April, 2001. Diagnosis. tangier disease. Discussion. tangier diseaseis a rare autosomal recessive disorder characterized by absence http://www.afip.org/Departments/Endocrine/Case/apr01/april2.html

April, 2001 Diagnosis Tangier disease. Discussion Tangier disease is a rare autosomal recessive disorder characterized by absence of plasma high-density lipoproteins (HDL), cholesterol ester accumulation in macrophages, progressive neuropathy and atherosclerosis. Known by synonyms such as an-a-lipoproteinemia, a-High-Density Lipoprotein Deficiency, alphalipoproteinemia, and Familial Alpha-Lipoprotein Deficiency, Tangier disease is caused by a defect in chromosome 9q31 affecting the gene product ATP binding cassette transporter-1 (ABC-1). The ABC-1 protein controls a cellular pathway that secretes cholesterol and phospholipids to lipid-poor apolipoproteins. The inability of the apolipoproteins to acquire cellular lipids leads to their rapid degradation and an over-accumulation of cholesterol in macrophages. The disorder has been found among inhabitant of Tangier Island in Chesapeake Bay, most of whom are descendants of the first settlers of 1686. Other affected families have been found in Missouri, Kentucky, and Europe. Clinically, enlarged orange-yellow tonsils, hepatosplenomegaly, enlarged lymph nodes, and premature coronary artery disease with an increased risk of myocardial infarction characterize Tangier's disease. In fact, the combination of enlarged orange-yellow tonsils and low plasma cholesterol is considered pathognomonic of the disease. In addition, sensory neuropathy such as slowly progressive pain and temperature loss, facial diplegia, and muscle wasting of the hands are common. Patient's serum displays hypocholesterolemia, markedly reduced high-density lipoproteins, and high triglycerides. No specific treatment is available.

40. Zebra Card MO-001: Orange Tonsils tangier disease. (2), McKusick 205400 = tangier disease. (3), Neuropathy intangier disease A clinicopathologic study and a review of the literature. http://www.zebracards.com/MO-001.html

Zebra Cards Update Mouth MO-001 Nav Large, lobulated, orange tonsils Differential Diagnosis Top Nav Tangier disease Discussion not available online Top Nav Update Comments Top Nav A case presenting with syringomyelia-like features. Reviews differences between true syringomyelia and Tangier neuropathy. [ Here's the opposite of Tangier disease: A 59 year old woman with a total cholesterol of 351 mg/dL, but her HDL level is 220 mg/dL! Her maternal grandfather and great-grandfather lived to 96 and 102, respectively. [ Footnotes in Print Edition Top Nav The Metabolic Basis of Inherited Disease. 5th ed Stanbury JB, et al. New York: McGraw-Hill, 1983: 607-614. McKusick 205400 = Tangier disease. Neuropathy in Tangier disease: A clinicopathologic study and a review of the literature. Pietrini V, Rizzuto N, et al. Acta Neurol Scand 1985 Nov;72(5):495-505. Pubmed+Abstract Similars New References Top Nav Case records of the Massachusetts General Hospital. Weekly clinicopathological exercises. Case 16-1996. A 36-year-old woman with bilateral facial and hand weakness and impaired truncal sensation [clinical conference]. N Engl J Med 1996 May 23;334(21):1389-94.

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