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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 (Jiménez Díaz memorial lecture) by Donald S Fredrickson, 1976

lists with details

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
    
    Extractions: 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 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/
    
    Extractions: Skip navigation Home Collection Home Search ... About High resolution version (2,941,113 Bytes) Exhibit Category: Lipid Metabolism and Genetic Disease, 1953-1974 Box Number: Unique Identifier: FFBBCM Document Type: Photographic prints Format: image/jpeg image/tif Physical Condition: Good Series: Photographic Materials, 1914-97 Metadata Last Modified Date: U.S. National Library of Medicine , 8600 Rockville Pike, Bethesda, MD 20894

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/
    
    Extractions: Skip navigation Home Collection Home Search ... About High resolution version (60,406,144 Bytes) 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

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
    
    Extractions: 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
    
    Extractions: 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
    
    Extractions: 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 Angiography Circulation. 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
    
    Extractions: 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

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
    
    Extractions: 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

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
    
    Extractions: 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

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
    
    Extractions: 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. 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
    
    Extractions: 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].

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
    
    Extractions: 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: 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
     
     Extractions: 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

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