41. Tangier Disease Is Caused By Mutations In The Gene Encoding ATP 22 no. 4 pp 352 355 tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1 Stephan Rust http://www.nature.com/cgi-taf/DynaPage.taf?file=/ng/journal/v22/n4/full/ng0899_3

42. Blackwell Synergy - Cookie Absent HDL deficiency and atherosclerosis lessons from tangier disease. Mutations in ABC1 in tangier disease and familial highdensity lipoprotein deficiency. http://www.blackwell-synergy.com/links/doi/10.1046/j.0954-6820.2003.01256.x/full

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43. HUM-MOLGEN: The Inside Story Of Tangier Disease (The Scientist) The inside story of tangier disease (The Scientist), September, 27 2001 1554, 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 Message posted by: Anthony W.I. Lo Generated by News Editor 2.0 by Kai Garlipp WWW: Kai Garlipp Frank S. Zollmann HUM-MOLGEN

44. Mioti: Diseases + Conditions not available. NORD tangier disease....... Diseases + Conditions tangier disease. Search Mioti Neuromuscular tangier disease. http://www.mioti.com/cat/condition/condition.asp?Cat=TangierDisease

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46. International Task Force For Prevention Of Coronary Heart Disease - Slide Kit Main clinical features of tangier disease. It is unclear at present if tangier disease 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.

47. Startplane /Health/Conditions_and_Diseases/Nutrition_and_Metabolism_Disorders/Ch Links. tangier disease An explanation of this disease and its name, its causes and treatment. tangier disease by Jackie Newman http://www.startplane.com/Health/Conditions_and_Diseases/Nutrition_and_Metabolis

Start Plane About Us Free Webpages Top Health ... Tangier Tangier Top Tangier Sites Your Site Here! - Get your site listed on StartPlane! The #1 performance based directory online! See also: Top/Health/Conditions and Diseases/Neurological Disorders/Muscle Diseases Top/Health/Conditions and Diseases/T Links 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. This category needs an editor Last Updated: 2003-05-05 18:14:20 Search: search the entire directory search this category only Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor The content of this directory is based on the Open Directory and may have been modified by DWodp Powered by DWodp pro Dominion Web

48. 172: A Defective Gene Associated With Atherosclerosis: Tangier Disease Is Caused Program Nr 172 A defective gene associated with atherosclerosis tangier disease is caused by mutations in the ATP binding cassette transporter 1 (ABC1). http://www.faseb.org/genetics/ashg99/f172.htm

Program Nr: 172 A defective gene associated with atherosclerosis: Tangier disease is caused by mutations in the ATP binding cassette transporter 1 ( S. Rust , M. Rosier , H. Funke , J. Real , Z. Amoura , J.-C. Piette , J.-F. Deleuze , H.B. Brewer , N. Duverger , G. Assmann Tangier disease was first discovered nearly 40 years ago by Donald Fredrickson and colleagues in two sibs living on Tangier Island in Chesapeake Bay, Virginia, USA. This is an autosomal codominant condition characterized in the homozygous state by the absence of HDL cholesterol from plasma, hepatosplenomegaly, peripheral neuropathy, and, frequently, premature coronary artery disease (CAD). In heterozygotes, HDL cholesterol levels are about half-normal. 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 Tangier families. We here report that we have refined our previous linkage of the Tangier disease gene to a 1 cM region between markers and on chromosome 9q31 in which we found the human ATP cassette binding transporter 1 ( ) gene. Moreover, a change in

49. 173: Mutations In Transportin (ABC1) In Tangier Disease And Familial HDL Deficie Program Nr 173 Mutations in transportin (ABC1) in tangier disease and familial HDL deficiency. AR BrooksWilson 1 , M. Marcil 1 , SM Clee 2 , LH. http://www.faseb.org/genetics/ashg99/f173.htm

Program Nr: 173 Mutations in transportin (ABC1) in Tangier disease and familial HDL deficiency. A.R. Brooks-Wilson , M. Marcil , S.M. Clee , L-H. Zhang , K. Roomp , M.J. van Dam , L. Yu , C. Brewer , J.A. Collins , H.O.F. Molhuizen , B.F.F. Ouellette , C.W. Sensen , D. Martindale , J. Frohlich , K. Morgan , B. Koop , S. Pimstone , J.J.P. Kastelein , J. Genest, Jr. , M.R. Hayden 1) Xenon Bioresearch, Vancouver, Canada; 2) Centre for Molecular Medicine and Therapeutics, University of British Columbia, Canada; 3) Academic Medical Centre, Amsterdam; 4) Clinical Research Institut of Montreal, Canada; 5) Network of Centres of Excellence, Canada. Coronary artery disease (CAD) is the major cause of death in Western industrialized countries. Low HDL-cholesterol (HDL-C) is the best discriminator between CAD patients and controls. Tangier disease (TD) is a rare autosomal recessive disorder characterized by very low HDL levels and cholesterol ester accumulation in different tissues. After confirming the previously reported 9q31 linkage of TD (Lod=6.37 at q =0cM for D9S1832), we undertook a genetic approach to identify the TD gene. Concurrently, we established linkage of a more common autosomal dominant condition, Familial HDL Deficiency (FHA) to the same region (Lod=9.67 at

50. RedNova News: Tangier Disease January 03, 2003. RedNova Health Link. tangier disease. Synonyms Alpha HighDensity Lipoprotein Deficieny. Alphalipoproteinemia. Analphalipoproteinemia. http://www.rednova.com/news/stories/2/2003/01/03/story009.html

Forum Check E-mail My RedNova Join Us ... Tell a Friend - Win $500 Search January 03, 2003 RedNova Health Link Tangier Disease Synonyms: Alpha High-Density Lipoprotein Deficieny Alphalipoproteinemia Analphalipoproteinemia Familial Alpha-Lipoprotein Deficiency Familial High-Density Lipoprotein Deficiency More science, space, and technology from RedNova Email this story to a friend Post your thoughts on this story

51. GeneCards Disorder Information: Tangier Disease GeneCards Disorder Information tangier disease. Search different databases containing disease information by clicking on the buttons below. http://genecards.bcgsc.ca/cgi-bin/disodisp?Tangier disease

52. Tangier tangier disease An explanation of this disease and its name, its causes and treatment. tangier disease by Jackie Newman - An article http://www.thenewhealthfind.com/Health/ConditionsandDiseases/NutritionandMetabol

Directory Home Health Conditions and Diseases Nutrition and Metabolism Disorders ... Cholesterol and Other Fats : Tangier (3) See Also: Health: Conditions and Diseases: Neurological Disorders: Muscle Diseases Health: Conditions and Diseases: Rare Disorders 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. Tangier Disease - An article about his disease, its symptoms, clinical symptoms, diagnosis and some dietary changes. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Quick Links phentermine 37.5 capsule dna testing costs Viagra For Women pharmacy online ... Toothpaste The New Health Directory Site Map Privacy Contact Advertise ... Health Directory

53. :: Ez2Find :: Tangier Web Sites, tangier disease Site Info - Translate - Open New Window An explanation of this disease and its name, its causes and treatment. http://ez2find.com/cgi-bin/directory/meta/search.pl/Health/Conditions_and_Diseas

Guide : Tangier Global Metasearch Any Language English Afrikaans Arabic Bahasa Melayu Belarusian Bulgarian Catala Chinese Simplified Chinese Traditional Cymraeg Czech Dansk Deutsch Eesti Espanol Euskara Faroese Francais Frysk Galego Greek Hebrew Hrvatski Indonesia Islenska Italiano Japanese Korean Latvian Lietuviu Lingua Latina Magyar Netherlands Norsk Polska Portugues Romana Russian Shqip Slovensko Slovensky Srpski Suomi Svenska Thai Turkce Ukrainian Vietnamese Mode All Words Any Word Phrase Results Timeout Depth Adult Filter Add to Favorites Other Search Web News Newsgroups Images Guides Tangier ez2Find Home Directory Health Conditions and Diseases ... Cholesterol and Other Fats : Tangier Related Categories Health: Conditions and Diseases: Neurological Disorders: Muscle Diseases Health: Conditions and Diseases: Rare Disorders Web Sites Tangier Disease [Site Info] [Translate] [Open New Window] An explanation of this disease and its name, its causes and treatment. URL: http://www.ncbi.nlm.nih.gov/disease/tangier.html Tangier Disease by Jackie Newman [Site Info] [Translate] [Open New Window] An article about this rare disease, its history, characteristics of the disease and the treatments. URL: http://www-personal.umd.umich.edu/~jcthomas/JCTHOMAS/1997%20Case%20Studies/J.%20Newman1.html

54. Yes Medical Information On Ailments, Personal And Family Health Matters - Yes Me Health Conditions and Diseases Rare Disorders (119). tangier disease An explanation of this disease and its name, its causes and treatment. http://www.yes-medical.com/dir/pg/Health/Conditions_and_Diseases/Nutrition_and_M

Yes Medical Yes Medical Information on ailments, personal and family health matters Yes Medical Information on ailments, personal and family health matters Yes Medical Home Yes Medical Information on ailments, personal and family health matters Top Health Conditions and Diseases Nutrition and Metabolism Disorders ... Cholesterol and Other Fats : Tangier See also: Health: Conditions and Diseases: Neurological Disorders: Muscle Diseases Health: Conditions and Diseases: Rare Disorders 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. About us Home At Yes Medical you can locate quality information on: Consumer Health Information, Medical Research, On-Line Diagnostic Consulting, Patient Education, Allergies, Blood Disorders, Cancer, Cardiovascular Disorders, Communication Disorders, Congenital Anomalies, Dental Disorders, Digestive Disorders, Ear, Nose and Throat, Endocrine Disorders, Eye Disorders, Food and Water Borne, Genetic Disorders, Genitourinary Disorders, Gynecologic Disorders, Immune Disorders, Infectious Diseases, Mental Health Disorders, Musculoskeletal Disorders, Neurological Disorders, Nutrition and Metabolism Disorders, Pediatric, Rare Disorders, Respiratory Disorders, Sexually Transmitted Diseases Skin Disorders, Sleep Disorders and Wounds and Injuries and much more. Yes Medical Yes Medical Information on ailments, personal and family health matters

55. Department Of Pediatric - ContentExpress - All Children Deserve Our Attention member today. Select Language English. tangier disease. Printer friendly page Send to a friend tangier disease. tangier disease http://www.tums-ped.org/index.php?module=ContentExpress&func=display&ceid=152

56. Tehran University Of Medical Sciences, Department Of Pediatrics » Home » [pedi tangier disease. tangier disease (TD) is a genetic disorder of cholesterol transport named for the secluded island of Tangier, located http://www.tums-ped.org/homeDiseases/Tangier-disease.htm

Home Affiliated Hospitals Alumni MedChildren A-Z Diseases Dictionar Neonatal Toddler Preschool School Age ... Adolescents Women's health Breast Examination Endometriosis Cancer and women Vaginal Sectetion Geriatrics Books and Resources USMLE Board Exam MCAT Med Text Books BBproducts Search by Keyword or Click on Table Below for Alphabetical Listing A B C D ... Z 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.

57. Msx2 FEBRUARY 2000. Abc1 Knockouts tangier disease. tangier disease Synonyms PubMed Search 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.

58. Ear, Nose & Throat Journal: Tonsil With Tangier Disease - Pathology Clinic - Bri You are Here Articles Ear, Nose Throat Journal March, 2003 Article. Tonsil with tangier disease. The pathology of tangier disease. http://www.findarticles.com/cf_0/m0BUM/3_82/99618585/p1/article.jhtml

@import url(/css/us/style.css); @import url(/css/us/searchResult1.css); @import url(/css/us/articles.css); Advanced Search Home Help IN all publications this publication Health Automotive Business Computing Entertainment Health News Reference Sports YOU ARE HERE Articles March, 2003 Content provided in partnership with Print friendly Tell a friend Find subscription deals Tonsil with Tangier disease - Pathology Clinic - Brief Article March, 2003 by Brenda L. Nelson Lester D.R. Thompson Tangier disease is a rare autosomal-recessive inherited disorder that is caused by a defect in chromosome 9q3 1. It is characterized by a severe deficiency or absence of high-density lipoproteins in plasma. A defect in cellular cholesterol removal results in the massive, abnormal accumulation of cholesterol esters in macrophages in many tissues. Although this accumulation is most conspicuous in the tonsils, progressive accretion of these esters also occurs in nerves (neuropathy) and vessels (atherosclerosis). The pathognomonic finding is a low plasma cholesterol concentration accompanied by normal or elevated triglyceride levels and large, lobulated, hyperplastic, bright orange-yellow tonsils and adenoid tissue. Affected families have been identified on Tangier Island, Va., in Chesapeake Bay as well as in Missouri, Kentucky, and Europe. Microscopically, the affected tissues demonstrate a prominent accumulation of foamy histiocytes (xanthoma cells) that contain lipid droplets (cholesterol esters) and occasionally crystalline material (figure). Lipid droplets are not present in lysosomes. The foamy histiocytes aggregate in clusters, often in the parafollicular area of the lymph nodes or tonsils. It is important to perform special studies to exclude an infectious etiology.

59. PR Newswire Discovery Of Gene Responsible For Lack Of `Good This gene is responsible for a rare disease, known as tangier disease, in which the good cholesterol is missing from the blood. http://www.findarticles.com/cf_0/m4PRN/1999_August_3/55330884/p1/article.jhtml

60. Lipids Online Slides: Apolipoprotein A-i, Cholesterol, Tangier Disease tangier disease. Physiology and Pathophysiology of HDL Metabolism (Daniel J. Rader, MD). tangier disease (Continued). Physiology and http://www.lipidsonline.org/slides/slide01.cfm?q=apolipoprotein a-i&pg=3

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