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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

lists with details

Neuromuscular Diseases
The spectrum of POEMS syndrome Miralles et al. '92; PubMed Abstract. TangierDisease About tangier disease A Hutchins (UK). Refsum Disease
http://www.mic.ki.se/Diseases/c10.668.html

Extractions: Motor Neuron Disease Lower and Upper Motor Neuron Disorders - Merck Manual Motor Neuron Awareness S Killeen ] - (IE) Clinical Features of Motor Neuron Disease - Bethlehem Health Care, Inc. (AU) Motor Neuron Disease and Animal Models - WUSTL (US) About Primary Lateral Sclerosis - NINDS/NIH (US) Primary Lateral Sclerosis F Reyerse Primary Lateral Sclerosis (PLS) C Armon ] - eMedicine A question + answer re Primary Lateral Sclerosis by the experts at MDA A two pages Open letter to Dr. Prahl about his anti-PLS drug C-3036
Volume 106 January - December 1983
Peripheral neuropathy in tangier disease. M . Pollock , H . Nukada, RW . Frith , JP . Simcock and S . Allpress. Pages 911 928.
http://www3.oup.co.uk/jnls/supplements/braini/hdb/Volume_106/Issue_04/1060911.sg
1Up Health > Health Links Directory > Conditions And Diseases: Nutrition And Met
Sites. tangier disease An article about his disease, its symptoms,clinical symptoms, diagnosis and some dietary changes. Tangier
http://www.1uphealth.com/links/cholesterol-and-other-fats-tangier.html

Extractions: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites.
SCIENCE IMAGES-GENETIC-Tangier Disease
Mount Allison Science Image Collection Genetic Diseases tangier disease. Tangier'sdisease occurs in subjects homozygous for an autosomal mutant allele.
http://aci.mta.ca/Courses/Biology/Images/genetic folder/TangierDisease.html

Extractions: Tangier Disease Tangier Disease - this rare disorder is named after the Chesapeake Bay island home of the first two patients described. It is characterized by an extreme deficiency of blood high density lipoprotein (HDL) and a distinctive orange-yellow coloration of the tonsils. Tangier's disease occurs in subjects homozygous for an autosomal mutant allele. Consanguinity has been demonstrated in several cases.
Health Library - Tangier Disease
Advanced Search. tangier disease. Synonyms Disorder Subdivisions GeneralDiscussion Resources National Organization for Rare Disorders.
http://www.stjudemedicalcenter.org/library/healthguide/IllnessConditions/topic.a
Zeal.com - United States - New - Personal - Health - Conditions & Illnesses - Br
Personal Health - Conditions Illnesses - Brain Nervous System - More Conditions- Neuromuscular Diseases - Peripheral Nervous System - tangier disease.
http://www.zeal.com/category/preview.jhtml?cid=10067947
GASNet Anesthesiology: Tangier Disease
tangier disease (Analphalipoproteinemia) symptoms and caveats
http://gasnet.med.yale.edu/pediatric-syndromes/tangier.php
Clin_Nutr_Research
Expression of the ATPbinding cassette transporter gene ABCG1 (ABC8)in tangier disease (in Cooperation with Dr. S. Lorkowski, IfA)
http://ear001.uni-muenster.de/Pages_Clin_Nutr/Clin_Nutr_Research.htm

Extractions: Research Finished projects Treatment of hypertriglyceridemia by two diets rich either in unsaturated fatty acids or in carbohydrates: Effects on lipoprotein subclasses, lipolytic enzymes, lipid transfer proteins, insulin and leptin International Journal of Obesity and related metabolic disorders Expression of the ATP-binding cassette transporter gene ABCG1 (ABC8) in Tangier disease (in Cooperation with Dr. S. Lorkowski, IfA) Lorkowski S, Kratz M, Wenner C, Weitkamp B, Fobker M, Rauterberg J, Reinhard J, Galinski EA, Assmann G, Cullen P. Expression of the ATP-binding cassette transporter gene ABCG1 (ABC8) in Tangier disease. Biochimica et Biophysica Research Acta Effect of dietary fatty acid composition on haemostasis, platelet activation, and fibrinolysis The knowledge on the effect of dietary fatty acids on haemostasis and thrombosis is incomplete. We have therefore investigated how diets rich in monounsaturated fatty acids (based on olive oil), monounsaturated and n-3-polyunsaturated fatty acids (based on rapeseed oil), or n-6-polyunsaturated fatty acids (based on sunflower oil) influence established risk factors for coronary heart disease such as Factor VII, fibrinogen, or plasminogen activator inhibitor-1 and other parameters of the haemostatic system and platelet function. Haemostasis and Thrombosis
Attie Lab, Our Research, HDL Metabolism
tangier disease and Familial Hypoalphalipoproteinemia. tangier diseaseis a rare recessive disorder in which patients have almost no HDL.
http://www.biochem.wisc.edu/attie/researchHDL.html

Extractions: Biochemistry and Cell Biology of ABCA1 and HDL Deficiency Syndromes Clinical Implications HDL deficiency is strongly correlated with risk of premature heart disease. In some studies, about 30% of patients with premature heart disease have low HDL while only about 20% have elevated LDL. Thus, HDL deficiency might be the most common metabolic disorder that raises the risk of heart disease. HDL metabolism; the reverse cholesterol transport hypothesis LDL is thought to be pro-atherogenic because of its ability to deliver cholesterol to cells in the arterial wall, principally macrophages and smooth muscle cells. If there is net deposition of cholesterol to cells that have no enzymes for breaking down cholesterol, what do the cells do to prevent cholesterol overload? Cells are able to rid themselves of excess cholesterol if there is a suitable acceptor particle in its milieu. HDL is capable of taking on cholesterol. When it does, the cholesterol is converted to cholesterol ester by a blood-borne enzyme, lecithin;cholesterol acyltransferase (LCAT). The HDL particles can then travel to the liver where they dock with a cell surface receptor, SR-B1. The interaction of HDL with SR-B1 results in the selective transfer of cholesterol esters to the inside of the hepatocytes. Here, the cholesterol can be converted to bile acids or simply secreted into the bile, along with phospholipids and bile acids. Biliary secretion is the most important route of excretion of cholesterol.
Science News Online (8/28/99): References: Treasure Hunt Unearths Cholesterol Ge
The isolation of a gene that causes tangier disease and affects the amount of good cholesterol in the blood may lead to treatments for heart disease.
http://www.sciencenews.org/sn_arc99/8_28_99/fob4ref.htm

Extractions: Treasure hunt unearths cholesterol gene The isolation of a gene that causes Tangier disease and affects the amount of "good" cholesterol in the blood may lead to treatments for heart disease. References: Bodzioch, M. . . . and G. Schmitz. 1999. The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. Nature Genetics 22(August):347. Brooks-Wilson A. . . . and M.R. Hayden. 1999. Mutations in in Tangier disease and familial high-density lipoprotein deficiency. Nature Genetics 22(August):336. Rust, S. . . . H.B. Brewer . . . and G. Assmann. 1999. Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nature Genetics 22(August):352. Further Readings: Young, S.G., and C.J. Fielding. 1999. The ABCs of cholesterol efflux. Nature Genetics 22(August):316. Sources: Gerd Assmann
Health Library - Tangier Disease
HealthSource, tangier disease. Synonyms Disorder Subdivisions GeneralDiscussion Resources National Organization for Rare Disorders.
http://www.memorialhealthsource.com/library/healthguide/IllnessConditions/topic.
Haberman Associates: Functional Genomics, January 2000
in the gene for a protein known as ABC1 are the cause of a rare human genetic disease(involving abnormalities in lipid metabolism) called tangier disease.
http://www.biopharmconsortium.com/articlejan2000.html

Extractions: Allan B. Haberman, Ph.D. January 2000 (updated on May 31, 2000) As researchers race to complete the sequencing of the human genome, functional genomics is becoming increasingly important for the success of companies' genomics-based drug discovery and development efforts. It is not enough to know sequence information in order to utilize genomics to develop breakthrough drugs and diagnostics. One must also understand how genes and their products work, how they interact in pathways within the cell and the organism, and what roles they play in health and disease. As a result, drug discovery researchers are moving into a "post-genomic", functional genomics era. Functional genomics aims to discover the biological function of particular genes, and how sets of genes and their products work together in health and disease. In its broadest definition, functional genomics encompasses many traditional molecular genetic and other biological approaches. More recently, however, functional genomics has come to be used to describe high-throughput approaches to whole-genome or system-wide molecular genetic studies. Many leading pharmaceutical companies are making major investments in this field, often partnering with smaller genomics and biotechnology companies that are developing functional genomics platform technologies. Haberman Associates, working together with Cambridge Healthtech Institute (CHI) has produced a comprehensive report, entitled
Tangier : Meddie Health Search
ITEMS LINKS tangier disease An explanation of this disease and itsname, its causes and treatment. (Rating 0.00 Votes 0) Rate
http://www.meddie.com/search/Health/Conditions_and_Diseases/Nutrition_and_Metabo
HUM-MOLGEN: The Inside Story Of Tangier Disease (The Scientist)
Author, Topic The inside story of tangier disease (The Scientist). Tangierdisease is a rare genetic disorder of lipid metabolism.
http://hum-molgen.org/bb/Forum7/HTML/000552.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
Identification And Analysis Of The Genes Involved In Cholesterol Efflux: Tangier
Arbeitsgruppe Assmann/Rust B13. Identification and analysis of the genesinvolved in cholesterol efflux tangier disease as leading paradigm.
http://www.acrc-gu.de/ptp/entries/00000896-de-01.php
Gene Targeting Of The Murine ABCG1 Gene And Phenotypic Characterization Of ABCG1
cholesterol. ABCA1 deficiency (tangier disease) causes HDL- deficiency,premature arteriosclerosis and coronary heart disease. In
http://www.acrc-gu.de/ptp/entries/00000897-de-01.php
Searchalot Directory For Tangier
Related Web Sites. tangier disease An explanation of this diseaseand its name, its causes and treatment. tangier disease by Jackie
http://www.searchalot.com/Top/Health/ConditionsandDiseases/NutritionandMetabolis

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GSC - Faculty
1999 Discovery of the genetic basis for tangier disease (TD) and Familial HighdensityLipoprotein (HDL) Deficiency with defective cholesterol efflux (FHD).
http://www.bcgsc.ca/about/faculty/person?pid=awilson
Universität Münster: Forschungsbericht 1997-98 - Inhaltsverzeichnis Institut F
Translate this page The high density lipoprotein- and apolipoprotein AI-induced mobilization of cellularcholesterol is impaired in fibroblasts from tangier disease subjects.
http://www.uni-muenster.de/Rektorat/Forschungsberichte-1997-1998/fo05ahe01.htm

Extractions: HDL-vermittelte Signaltransduktion und Cholesterinstoffwechsel Walter, M., U. Gerdes, U. Seedorf, G. Assmann : The high density lipoprotein- and apolipoprotein A-I-induced mobilization of cellular cholesterol is impaired in fibroblasts from Tangier disease subjects. Biochem Biophys Res Commun Walter, M., S. Kerber, C. Fechtrup, U. Seedorf, G. Breithardt, G. Assmann : Characterization of atherosclerosis in a patient with familial high density lipoprotein deficiency (Tangier disease). Atherosclerosis Walter, M., H. Reinecke, J.-R. Nofer, U. Seedorf, G. Assmann : HDL stimulates multiple signaling pathways in human skin fibroblasts. Arterioscler Thromb Vasc Biol : Defective regulation of phospatidylcholine-specific phospholipases C and D in a kindred with Tangier disease.
BIO 1181 Exam 3
Use appropriate gene. symbols, which you define. 4. (10 pts) tangier diseaseis prevalent among residents of Tangier Island in the Chesapeake Bay.
http://www38.homepage.villanova.edu/john.friede/exam3.htm

Extractions: second meiotic division 3.2 pg* * One picogram (pg) is 1/1,000,000,000,000 grams. 2. (10 pts) Becker muscular dystrophy is a mild inherited form of the disease and is determined by a recessive X-linked gene. An unaffected woman, whose father has Becker muscular dystrophy, is married to a normal man. a) What is the probability that their first child will be an affected male? b) What is the probability that their first child will be an affected female?

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