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

81. MeSH-D Terms Associated To MeSH-C Term Tangier Disease
MeSHD terms associated to MeSH-C term tangier disease, G2D Home. The number indicates the strength of the association of the corresponding
http://www.bork.embl-heidelberg.de/g2d/c2d.pl?Tangier_Disease:unknown

82. References For Hypoalphalipoproteinemia, Primary With The MeSH
References for Hypoalphalipoproteinemia, primary with the MeSH term tangier disease, G2D Home. PMID and date. Follow the link to
http://www.bork.embl-heidelberg.de/g2d/exam_mesh_disease.pl?Tangier_Disease:U568

83. Tangier Disease HIGH DENSITY LIPOPROTEIN DEFICIENCY DUE TO DEFECTIVE METABOLISM
1982 November; 70 (5) 934 945 tangier disease. HIGH DENSITY LIPOPROTEIN DEFICIENCY DUE TO DEFECTIVE METABOLISM OF AN ABNORMAL APOLIPOPROTEIN AI (APOAI TANGIER
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=370306

84. Studies On The Protein Defect In Tangier Disease ISOLATION AND CHARACTERIZATION
J Clin Invest. 1972 October; 51 (10) 2505 2519 Studies on the Protein Defect in tangier disease. ISOLATION AND CHARACTERIZATION
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=332947

85. Science -- Sign In
This population carries a rare hereditary disorder, called tangier diseaseafter the name of the islandcharacterized by a defect in cholesterol management
http://intl.sciencemag.org/cgi/content/full/285/5429/814
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86. Tangier From Linkspider UK Health Directory
photos. tangier disease An explanation of this disease and its name, its causes and treatment. tangier disease by Jackie Newman
http://linkspider.co.uk/Health/ConditionsandDiseases/NutritionandMetabolismDisor
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Directory Topic Tangier assoicated to Health
Directory Tree: Top Health Conditions and Diseases Nutrition and Metabolism Disorders ... Cholesterol and Other Fats : Tangier (
See Also:

87. Atherosclerosis Study Sheet
tangier disease articles What are the symptoms of tangier disease? Where does it come from? What gene is mutated in tangier disease?
http://www.bio.davidson.edu/people/kahales/362HumGen/studysheets/Atherosclerosis
Bio 362 Human Genetics Spring 2003
Atherosclerosis study sheet for February 4th
Back to syllabus
Lusis review paper:
Your outline of this paper (as mentioned in the syllabus) should consist mainly of a flow chart of the events that lead to atherosclerosis, including important gene products that contribute at each step. My own flow chart includes about ten steps. Don't get bogged down in all the details- try to flesh out what is important. Fazio et al paper:
What are the the two hypotheses regarding the role of ApoE secretion by macrophages?
What previous experiment (related to the one in this paper) had been done by the same research group? What had been problematic about it?
How were the mice used in this study generated/manipulated? What were the control mice?
How was it shown that the bone marrow really did come from the donor?
What was measured to be the same between the experimental and control mice? What was different? (This pretty much encompasses all the figures and the table.)
Given the experimental setup, did you expect serum levels of ApoE to be the same between the two types of mice? Why don't the researchers see a difference?

88. CNN - Gene May Increase Risk For Heart Disease - October 22, 1999
How the gene was found. A rare genetic disorder called tangier disease provided the clue to the gene s discovery. Individuals with
http://www.cnn.com/HEALTH/9910/22/genetics.cardio.wmd/
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Gene may increase risk for heart disease
October 22, 1999 Web posted at: 3:20 p.m. EDT (1920 GMT) In this story: Improved coronary artery treatment How the gene was found The therapeutic outlook RELATEDS By Christine Cosgrove (WebMD) Geneticists have located a gene that may be responsible for increasing the risk of heart disease. The gene, called ABC1, normally helps rid the body of cholesterol by maintaining sufficient levels of "good" cholesterol, also known as high density lipoprotein (HDL). But when mutated, the gene can no longer maintain levels of HDL, the researchers said Thursday at the 49th annual meeting of the American Society of Human Genetics in San Francisco. Michael Hayden, one of the lead researchers and a professor of medical genetics at the University of British Columbia, said the study revealed that people with this genetic defect who have low HDL levels are at just as much risk for heart disease as people with high levels of low density lipoprotein (LDL), commonly called "bad" cholesterol.

89. FreemanPubs
Decreased cholesterol efflux from fibroblasts of a patient without tangier disease, but with markedly reduced high density lipoprotein cholesterol levels.
http://genetics.mgh.harvard.edu/FreemanWeb/Pubs.html
Recent publications
Eberhart, G.P., Mendez, A.J., and MW Freeman. Decreased cholesterol efflux from fibroblasts of a patient without Tangier Disease, but with markedly reduced high density lipoprotein cholesterol levels. J. Clin. Endo. Metabolism 1998:83;836-846.
Andersson LA and MW Freeman. Functional changes in scavenger receptor binding conformation are induced by charge mutants spanning the entire collagen domain. J. Biol. Chem. 1998:273;19592-19601.
Moore KJ, Fabunmi RP, Andersson LP and MW Freeman. In vitro differentiated embryonic stem cell macrophages: a model system for studying atherosclerosis-associated macrophage functions.Arterioscler Thromb Vasc Biol 1998;18:1647-1654.
Fabunmi RP, Moore KJ, Libby P, and MW Freeman. Stromelysin-1 (MMP-3) expression driven by a macrophage-specific promoter results in reduced viability in transgenic mice. Atherosclerosis 1999; 148:375-386.
Fitzgerald M, Moore KJ, MW Freeman, GL Reed. Lipopolysaccharide induces scavenger receptor-A expression in murine macrophages via a non-transcriptional mechanism. J Immunol. 2000; 164:2692-2700.
Brousseau M, Eberhart GP, Schaefer EJ and MW Freeman. Cellular cholesterol efflux in heterozygotes for Tangier disease is markedly reduced and correlates with HDL cholesterol and particle size. J Lipid Res 2000; 41:1125-1135.

90. Faculty Profile - Oram
PUBLICATIONS Francis GA, Knopp RH, and Oram JF Defective removal of cellular cholesterol and phospholipids by apolipoprotein AI in tangier disease.
http://depts.washington.edu/metab/faculty/oram.htm
EDUCATION AND TRAINING
Ph.D., Hershey Medical Center, Pennsylvania State University, Hershey, PA
Fellowship, Hershey Medical Center, Department of Physiology
John F. Oram, Ph.D
Research Professor of Medicine
Division of Metabolism, Endocrinology and Nutrition
OFFICE ADDRESS
University of Washington Medical Center
1959 NE Pacific Street
UW Mailbox 356426
Seattle, WA 98195-6426 CURRENT RESEARCH INTERESTS Studies of biochemical mechanisms by which high density lipoprotein (HDL) removes cellular cholesterol and phospholipids. Characterization of cellular pathways involved in cholesterol trafficking and their regulation by lipoproteins, cytokines, and hormones. Identification and characterization of signaling molecules involved in modulating cholesterol trafficking. Identification of genes and gene products involved in HDL-mediated removal of cellular lipids. Studies of the molecular and cellular properties of ABCA1, a membrane transporter that mediates secretion of excess cellular cholesterol. Characterization of the properties of HDL apolipoproteins responsible for cellular interactions that facilitate lipid removal. Studies of the effects of diabetes on the properties and activity of ABCA1 and cellular cholesterol trafficking. REPRESENTATIVE PUBLICATIONS Francis GA, Knopp RH, and Oram JF: Defective removal of cellular cholesterol and phospholipids by apolipoprotein A-I in Tangier Disease. J Clin Invest 96:78-87, 1995.

91. Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Tangier+Disease
Universität Münster Forschungsbericht 19992000 - Translate this page Gefäßkrankheiten. B7-Identifikation der genetischen Ursache von tangier disease - Erstellung und Analyse eines Contigs für Chromosom 9q31.
http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Tangier Disease

92. Tangier Disease
tangier disease. tangier disease http//www.ncbi.nlm.nih.gov An explanation of this disease and its name, its causes and treatment.
http://www.medlina.com/tangier_disease.htm
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Tangier Disease Tangier Disease - http://www.ncbi.nlm.nih.gov
An explanation of this disease and its name, its causes and treatment. Tangier Disease by Jackie Newman - http://www-personal.umd.umich.edu
An article about this rare disease, its history, characteristics of the disease and the treatments. Tangier Disease - http://endeavor.med.nyu.edu An article about his disease, its symptoms, clinical symptoms, diagnosis and some dietary changes. SUBCATEGORIES Up Search Now: info@medlina.com N ew Y ork C ity A merica M edica, I nc.

93. Nutritional And Metabolic Diseases
Hartnup disease. About Hartnup disease MedStudents (BR). Hartnup disease Karadaglic and Stojanov - eMedicine. About Wilson s disease - MedStudents (BR).
http://www.mic.ki.se/Diseases/C18.html
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Diseases and Disorders Links pertaining to Nutritional and Metabolic Diseases Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Acid-Base Imbalance Acidosis Alkalosis Alkaptonuria ... Wolman Disease
Nutritional and Metabolic Diseases FDA Center for - (US) International Union of Nutritional Sciences - (AU) The Nutrition Navigator (rating guide) at Tufts University The USDA Nutrient Database for Standard Reference, rel 13 - (US) NATS - Nutritional Analysis Tool and System About some Diagnostic Tests Used in Evaluation of Malabsorption www.FoodSafety.gov Food Safety including a list of Organisms of concern - N Carolina Coop. Ext. Serv. (US) About Food Irradiation - BFE (DE) Facts about Food Irradiation - IAEA (AT) The British Nutrition Foundation Int'l Food Information Council , including a page on Food Additives , and

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