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Tangier Disease: more detail

Tangier disease: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Lisa, MS, CGC Andres, 2005
Tangier Disease - A Bibliography and Dictionary for Physicians, Patients, and Genome Researchers by Philip M. Parker, 2007-07-19
Tangier Disease
Tonsils and apolipoproteins;: Lessons about plasma lipoproteins derived from Tangier disease and other mutants (JimeÌnez DiÌaz memorial lecture) by Donald S Fredrickson, 1976

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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
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

Extractions: Home An Error Occurred Setting Your User Cookie A cookie is a small amount of information that a web site copies onto your hard drive. Synergy uses cookies to improve performance by remembering that you are logged in when you go from page to page. If the cookie cannot be set correctly, then Synergy cannot determine whether you are logged in and a new session will be created for each page you visit. This slows the system down. Therefore, you must accept the Synergy cookie to use the system. What Gets Stored in a Cookie? Synergy only stores a session ID in the cookie, no other information is captured. In general, only the information that you provide, or the choices you make while visiting a web site, can be stored in a cookie. For example, the site cannot determine your email name unless you choose to type it. Allowing a web site to create a cookie does not give that or any other site access to the rest of your computer, and only the site that created the cookie can read it. Please read our for more information about data collected on this site.
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

Extractions: 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
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
Tangier Disease
Home Up . Click Here! tangier disease. Click Here! Musice.net Just-recipes.net EnvyMag.com Scholarships-4u.com Shesearch.com
http://www.health-server.com/tangier_disease.htm
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

Extractions: 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.
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
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

Extractions: 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
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

Extractions: 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
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

Extractions: 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
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
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
:: 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

Extractions: 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 Guides Tangier Web Sites Tangier Disease [Site Info] [Translate] [Open New Window] 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
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

Extractions: 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 Top Health Conditions and Diseases Nutrition and Metabolism Disorders ... Cholesterol and Other Fats : Tangier See also: 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
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
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

Extractions: 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.
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

Extractions: 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.
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

Extractions: 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.
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
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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