81. Www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Tangier+Di Science News Online (8/28/99) References Treasure hunt unearths The isolation of a gene that causes tangier disease and affects the amount of . Mutations in ABC1 in tangier disease and familial highdensity http://www.nlm.nih.gov/cgi/mesh/2K/MB_cgi?term=Tangier Disease

82. Tangier Disease As A Test Of The Reverse Cholesterol Transport Hypothesis -- Tal Studies in tangier disease (TD) have shed further light on this complex question tangier disease is caused by mutations in the gene encoding ATPbinding http://www.jci.org/cgi/content/full/106/10/1205

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text (PDF) Submit a response Alert me when this article is cited ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Tall, A. R. Articles by Wang, N. J Clin Invest, November 2000, Volume 106, Number 10, 1205-1207 Commentary Tangier disease as a test of the reverse cholesterol transport hypothesis Alan R. Tall and Nan Wang Division of Molecular Medicine, Department of Medicine, Columbia University, New York, New York, USA Address correspondence to: Alan R. Tall, Columbia University, Department of Medicine, Division of Molecular Medicine, New York, New York 10032, USA. Phone: (212) 305-4899; Fax: (212) 305-5052; E-mail: Atherosclerotic cardiovascular disease is the major killer in industrialized societies. Treatment of this disorder via LDL lowering, particularly with statin drugs, has been partially

83. PharmGKB: ABCA1 regulatory protein; high density lipoprotein deficiency, Tangier type, 1.Alternate Symbols, ABC1; CERP; HDLDT1; TGD; Tangier; tangier disease; disease http://www.pharmgkb.org/do/serve?objId=PA24373&objCls=Gene

84. [Photograph Of Enlarged Tonsils Used In The Study Of Tangier Disease] [ca. 1960] Medical Subject Headings (MeSH) tangier disease SubSeries Lab Photographs.Folder tangier disease Tonsils. Metadata Last Modified Date 200303-11 http://profiles.nlm.nih.gov/FF/B/B/C/M/

Skip navigation Home Collection Home Search ... About The Donald S. Fredrickson Papers Title: [Photograph of enlarged tonsils used in the study of Tangier disease] High resolution version (2,941,113 Bytes) Number of Image Pages: 1 (79,017 Bytes) Date Supplied: ca. 1960 Creator: National Institutes of Health Rights: This item is in the public domain. It may be used without permission. Subject: Medical Subject Headings (MeSH): Tangier Disease Exhibit Category: Lipid Metabolism and Genetic Disease, 1953-1974 Box Number: Folder Number: Unique Identifier: FFBBCM Document Type: Photographic prints Format: image/jpeg image/tif Physical Condition: Good Series: Photographic Materials, 1914-97 SubSeries: Lab Photographs Folder: Tangier Disease Tonsils Metadata Last Modified Date: U.S. National Library of Medicine , 8600 Rockville Pike, Bethesda, MD 20894 National Institutes of Health Privacy Accessibility Comments ... Acknowledgments

85. [Tangier Disease Collage] [1960s] The Donald S. Fredrickson Papers. Title tangier disease collage Folder tangier disease Collage. Metadata Last Modified Date 200303-11 http://profiles.nlm.nih.gov/FF/B/B/D/P/

Skip navigation Home Collection Home Search ... About The Donald S. Fredrickson Papers Title: [Tangier disease collage] High resolution version (60,406,144 Bytes) Description: A collage showing (clockwise from top left) Donald S. Fredrickson and Paul Altrocchi sitting on a boat; a clipping from a magazine article announcing Fredrickson's discovery; the location of Tangier Island, Virginia in the Chesapeake Bay; unidentified object; unidentified woman; a photo of infected tonsils; and patients Timothy Laird and sister Elaine with their mother, Frances. Item is a photocopy. Number of Image Pages: 1 (1,432,358 Bytes) Date Supplied: Rights: Courtesy of Donald S. Fredrickson. profiles@nlm.nih.gov Subject: Medical Subject Headings (MeSH): Tangier Disease Exhibit Category: Lipid Metabolism and Genetic Disease, 1953-1974 Relation: Tangier Disease: Tonsils May Cure Hearts [1967] Box Number: Unique Identifier: FFBBDP Document Type: Photographic prints Cartographic materials Format: image/jpeg image/tif Physical Condition: Good Series: Personal and Biographical, 1914-2002, bulk dates 1960-90

86. Tangier Disease tangier disease. Used for. familial high density lipoprotein deficiency.Broader Terms. familial hypolipoproteinemia. Related Terms http://crisp.cit.nih.gov/Thesaurus/00007890.htm

Prev Term: TANF (Temporary Assistance For Needy Families) Next Term: tannin Tangier disease Used for: familial high density lipoprotein deficiency Broader Terms: familial hypolipoproteinemia Related Terms: autosomal recessive trait Scope Note: autosomal recessive disorder of lipoprotein and lipid metabolism characterized by absence in plasma of normal high-density lipoprotein, deficiency of apolipoproteins AI and AII, low to normal low-density lipoproteins, high triglycerides and accumulation in body tissues of cholesteryl esters. Term Number: Send your comments to: Melody Lowe

87. NEJM -- Metabolism Of High-density Lipoprotein Apolipoproteins In Tangier Diseas To define the metabolic defect in tangier disease, we studied the kinetics Cellular cholesterol efflux in heterozygotes for tangier disease is markedly http://content.nejm.org/cgi/content/abstract/299/17/905

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services 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 Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited ... PubMed 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: Timmins, J. M., Lee, J.-Y., Boudyguina, E., Kluckman, K. D., Brunham, L. R., Mulya, A., Gebre, A. K., Coutinho, J. M., Colvin, P. L., Smith, T. L., Hayden, M. R., Maeda, N., Parks, J. S. (2005). Targeted inactivation of hepatic Abca1 causes profound hypoalphalipoproteinemia and kidney hypercatabolism of apoA-I.

88. NEJM -- Apoprotein A-I Synthesis In Normal Intestinal Mucosa And In Tangier Dise The low levels of apoAI in tangier disease are not due to a failure of Growth and Cell Cycle Abnormalities of Fibroblasts From tangier disease Patients http://content.nejm.org/cgi/content/abstract/299/26/1424

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services 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 Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited ... PubMed Citation Abstract This article has been cited by other articles: Rye, K.-A., Barter, P. J. (2004). Formation and Metabolism of Prebeta-Migrating, Lipid-Poor Apolipoprotein A-I. Arterioscler Thromb Vasc Biol [Abstract] [Full Text] Knopp, R. H., Retzlaff, B., Fish, B., Walden, C., Wallick, S., Anderson, M., Aikawa, K., Kahn, S. E. (2003). Effects of Insulin Resistance and Obesity on Lipoproteins and Sensitivity to Egg Feeding. Arterioscler Thromb Vasc Biol [Abstract] [Full Text] 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.

89. Tangier Disease With Continuous Massive And Longitudinal Diffuse Calcification I He was diagnosed with tangier disease by clinical manifestations, Subsequently,the diagnosis of homozygous tangier disease was also established by http://circ.ahajournals.org/cgi/content/full/101/20/2446

This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Request Permissions PubMed PubMed Citation Articles by Komuro, R. Articles by Matsuzawa, Y. Related Collections Genetics of cardiovascular disease Lipid and lipoprotein metabolism Coronary imaging: angiography/ultrasound/Doppler/CC Pathophysiology ... Angiography Circulation. Images in Cardiovascular Medicine Tangier Disease With Continuous Massive and Longitudinal Diffuse Calcification in the Coronary Arteries Demonstration by the Sagittal Images of Intravascular Ultrasonography Ryutaro Komuro, MD, PhD Shizuya Yamashita, MD, PhD Satoru Sumitsuji, MD Ken-ichi Hirano, MD, PhD Takao Maruyama, MD, PhD Makoto Nishida, MD Fumihiko Matsuura, MD Akifumi Matsuyama, MD Taizo Sugimoto, MD Noriyuki Ouchi, MD Naohiko Sakai, MD, PhD Tadashi Nakamura, MD, PhD Toru Funahashi, MD, PhD

90. Tangier Disease Med Family Medicine For The Family tangier disease (TD) is a genetic disorder of cholesterol transport named forthe secluded island tangier disease Login/Create an account 0 Comments http://www.medfamily.org/medArticle165.html

91. International Union Of Pure And Applied Chemistry A second hallmark of tangier disease is the lack of highdensity lipoprotein (HDL)particles in the circulation. HDL is thought to be the major particle http://www.iupac.org/news/prize/2002/lorkowski.html

I U P A C Prize for Young Chemists 2002 winners Standing Committees Divisions ... Home Page Winner of the IUPAC Prize for Young Chemists - 2002 Stefan Lorkowski wins one of the first 4 IUPAC Prize for Young Chemists , for his Ph.D. thesis work entitled " Differential Gene Expression in Human Macrophages During Foam Cell Formation ." Current address (at the time of application) Augustastrasse 36, D-48153 Münster, Germany E-mail: stefan.lorkowski@uni-muenster.de Academic degrees Ph.D. in Biochemistry, University of Münster, March 2001 M.S. in Chemistry and Biochemistry, University of Münster, Sep. 1997 Accreditation as a Member of the Institute of Biology and as a Chartered Biologist, Dec. 2001 Accreditation as a Associate Member of the Royal Society of Chemistry; Aug. 2001 Accreditation as a Clinical Biologist of the Society of Clinical Biology and Bioanalytics, Feb. 2001 Ph.D. Thesis

92. Postprandial Hypertriglyceridaemia In Patients With Tangier Disease -- Kolovou E Background tangier disease (TD) is the phenotypic expression of rare tangier disease (TD) is a rare genetic disorder that was first described 42 years http://jcp.bmjjournals.com/cgi/content/full/56/12/937

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Abstract Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Kolovou, G Articles by Cokkinos, D V Related Collections Other Cardiovascular Medicine Nutrition and Metabolism Chemical Pathology Journal of Clinical Pathology ORIGINAL ARTICLE Postprandial hypertriglyceridaemia in patients with Tangier disease G Kolovou D Daskalova K Anagnostopoulou I Hoursalas V Voudris D P Mikhailidis and D V Cokkinos Cardiology Department, Onassis Cardiac Surgery Centre, 17674 Athens, Greece Department of Clinical Biochemistry (Vascular Disease Prevention Clinics), Royal Free Hospital, Royal Free and University College Medical School, London NW3 2Q9, UK Correspondence to: Dr G D Kolovou Onassis Cardiac Surgery Centre, 356 Sygrou Avenue, 17674 Athens, Greece;

93. Postprandial Hypertriglyceridaemia In Patients With Tangier Disease -- Kolovou E Background tangier disease (TD) is the phenotypic expression of rare familialsyndromes Keywords postprandial hypertriglyceridaemia; tangier disease; http://jcp.bmjjournals.com/cgi/content/abstract/56/12/937

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS Author Keyword(s) Vol Page [Advanced] This Article Full Text Full Text (PDF) Submit a response ... Citation Map Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Kolovou, G Articles by Cokkinos, D V Related Collections Other Cardiovascular Medicine Nutrition and Metabolism Chemical Pathology Journal of Clinical Pathology ORIGINAL ARTICLE Postprandial hypertriglyceridaemia in patients with Tangier disease G Kolovou D Daskalova K Anagnostopoulou I Hoursalas V Voudris D P Mikhailidis and D V Cokkinos Cardiology Department, Onassis Cardiac Surgery Centre, 17674 Athens, Greece Department of Clinical Biochemistry (Vascular Disease Prevention Clinics), Royal Free Hospital, Royal Free and University College Medical School, London NW3 2Q9, UK Correspondence to: Dr G D Kolovou Onassis Cardiac Surgery Centre, 356 Sygrou Avenue, 17674 Athens, Greece;

94. The Pathology Of Tangier Disease. A Light And Electron Microscopic Study -- Ferr tangier disease (deficiency of high density plasma lipoproteins) is characterized The foam cells in tangier disease differ morphologically from those in http://ajp.amjpathol.org/cgi/content/abstract/78/1/101

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS This Article Order Full text via Infotrieve Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by Ferrans, V. J. Articles by Fredrickson, D. S. REGULAR ARTICLES The pathology of Tangier disease. A light and electron microscopic study VJ Ferrans and DS Fredrickson Tangier disease (deficiency of high density plasma lipoproteins) is characterized clinically by: low levels of plasma cholesterol; enlarged, orange-yellow to yellow-gray tonsils and, frequently, peripheral neuropathy. Histologic and ultrastructural studies were made of various tissues from 5 patients with Tangier disease, and comparisons were made of these findings with those in the 12 other patients thus far known to have this disease. Deposits of cholesteryl esters were found in: reticuloendothelial cells (foam cells) in tonsils, bone marrow, skin and jejunal submucosa; Schwann cells in peripheral nerves and myenteric plexus;

95. Health Library - Abnormal processing of Golgi elements and lysosomes in Tangier It has been demonstrated that the cellular defect in tangier disease is It is concluded that the defect in tangier disease that we have recently http://12.31.13.113/library/healthguide/en-us/illnessconditions/topic.asp?hwid=n

96. Zebra Card MO-001: Orange Tonsils Reviews differences between true syringomyelia and Tangier neuropathy. 101;Here s the opposite of tangier disease A 59 year old woman with a total 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.

97. Ntsad's What Every Family Should Know: The Allied Diseases Profiled Pelizaeus Merzbacher Disease, Lipophlin, 312080, Yes, Yes, X, XLinked.tangier disease, Apo-Gln-1, 205400, No, No ? (AR). Back to top http://www.ntsad.org/pages/ntsad.htm

The Allied Diseases Profiled TAY-SACHS AND THE ALLIED DISEASES ARE GENETIC CONDITIONS CLASSIFIED as storage diseases. They are caused by the abnormal accumulation, or storage, of certain waste products in the cells or tissues of affected individuals. As these products build up, cells become damaged and gradually lose their ability to function properly, causing disease symptoms. While the specific clinical courses of these related disorders differ, there are certain commonalities, and children and adults affected with Tay-Sachs or any of the allied diseases share many issues associated with chronic, progressive illness. T he chart below provides a quick reference for the major characteristics of the allied diseases. Underlined words are links to more information on this site or elsewhere on the Internet. The Omim # refers to the catalogue citation on the Online Mendelian Inheritance In Man , the hypertext version of Victor McCusick's landmark catalogue of human genetic disease. A dditionally, the following Allied Diseases are profiled in more depth in their own sections: Tay-Sachs Disease Late-Onset Tay-Sachs Disease Sandhoff Disease Fabry Disease ... Canavan Disease T his information is provided in response to a growing demand for knowledge and in the hopes of increasing awareness and understanding of these rare, but often devastating, diseases.

98. Tangier Disease: Defective Recombination Of A Specific Tangier Apolipoprotein A- These results suggest that the underlying defect in tangier disease may be a The pathology of tangier disease. A light and electron microscopic study. http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=534364

99. Tangier Disease: A Structural Defect In Apolipoprotein A-I (apoA-I Tangier). tangier disease is a familial disorder characterized by orange tonsils, The pathology of tangier disease. A light and electron microscopic study. http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=346223

100. Cellular Cholesterol Efflux In Heterozygotes For Tangier Disease Is Markedly Red tangier disease (TD), caused by mutations in the ATPbinding cassette 1 tangier disease as a test of the reverse cholesterol transport hypothesis http://www.jlr.org/cgi/content/abstract/41/7/1125

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Full Text Full Text (PDF) Purchase Article ... Citation Map Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Download to citation manager ... Cited by other online articles PubMed PubMed Citation Articles by Brousseau, M. E. Articles by Freeman, M. W. Journal of Lipid Research, Vol. 41, 1125-1135, July 2000 Lipid Research, Inc. Original Article Cellular cholesterol efflux in heterozygotes for Tangier disease is markedly reduced and correlates with high density lipoprotein cholesterol concentration and particle size Margaret E. Brousseau a , Gretchen P. Eberhart c d , Bela F. Asztalos a , Allison L. Goldkamp a , Ernst J. Schaefer a , and Mason W. Freeman c a Lipid Metabolism Laboratory, JM-USDA Human Nutrition Research Center on Aging at Tufts University, Boston, MA b Department of Medicine, New England Medical Center, Boston, MA 02111 c Lipid Metabolism Unit, Massachusetts General Hospital, Boston, MA 02114

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