61. Arch Ophthalmol -- Abstract: Ocular Manifestations Of Familial High-density Lipo Corneal clouding is one of the manifestations of tangier disease, an inheriteddisorder in which cholesterolrich lipids are deposited in various tissues of http://archopht.ama-assn.org/cgi/content/abstract/97/10/1926

Select Journal or Resource JAMA Archives of Dermatology Facial Plastic Surgery Family Medicine (1992-2000) General Psychiatry Internal Medicine Neurology Ophthalmology Surgery Student JAMA (1998-2004) JAMA CareerNet For The Media Meetings Peer Review Congress Vol. 97 No. 10, October 1979 Featured Link E-mail Alerts ARTICLE Article Options Send to a Friend Readers Reply Submit a reply Similar articles in this journal Literature Track Add to File Drawer Download to Citation Manager PubMed citation Articles in PubMed by Chu FC Brewer HB Articles that cite this article Contact me when this article is cited Ocular manifestations of familial high-density lipoprotein deficiency (Tangier disease) F. C. Chu, T. Kuwabara, D. G. Cogan, E. J. Schaefer and H. B. Brewer Jr Corneal clouding is one of the manifestations of Tangier disease, an inherited disorder in which cholesterol-rich lipids are deposited in various tissues of the body. The cause of the corneal clouding is unknown. This study documents the clinical course and conjunctival biopsy findings of a 60-year-old man who was one of the earliest patients to be recognized with Tangier disease and in whom progressive corneal clouding developed in adult life. Noteworthy in the biopsy specimens were birefringent lipid

62. The Establishment Of Telomerase-immortalized Tangier Disease Cell Lines Indicate The establishment of telomeraseimmortalized tangier disease cell lines indicatesthe tangier disease (TD) is a human genetic disorder associated with http://www.arclab.org/medlineupdates/abstract_15001567.html

Aging Research Center Home Page All Previous Aging Related Articles On-line Medical Dictionary National Library of Medicine's PubMed directory of MEDLINE citations. The establishment of telomerase-immortalized Tangier disease cell lines indicates the existence of an apolipoprotein A-I-inducible but ABCA1-independent cholesterol efflux pathway. - Walter M, Forsyth NR, Wright WE, Shay JW, Roth MG J Biol Chem 2004 May 14;279(20):20866-73. Epub 2004 Mar 4. Tangier disease (TD) is a human genetic disorder associated with defective apolipoprotein-I-induced lipid efflux and increased atherosclerotic susceptibility. It has been linked to mutations in the ATP-binding cassette protein A1 (ABCA1). Here we describe the establishment of permanent Tangier cell lines using telomerase. Ectopic expression of the catalytic subunit of human telomerase extended the life span of control and TD skin fibroblasts, and (in contrast to immortalization procedures using viral oncogenes) did not impair apolipoprotein A-I-induced lipid efflux. The key characteristics of TD

63. Identification And Analysis Of The Genes Involved In Cholesterol Efflux: Tangier Disease arteriosclerosis/atherosclerosis tangier disease Discipline ClinicalChemistry Molecular biology Other keywords microarrays http://www.acrc-gu.de/ptp/entries/print-00000896-en.php

Workgroup Assmann/Rust B13 Identification and analysis of the genes involved in cholesterol efflux: Tangier disease as leading paradigm Rust S, Rosier M, Funke H, Real J, Amoura Z, Piette JC, Deleuze JF, Brewer HB, Duverger N, Denefle P, Assmann G (1999) Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nat Genet 22: 352-355. Table of Contents Categories Contact   Page 2 Workgroup Assmann/Rust B13 Categories Pathogen: Disease: arteriosclerosis/atherosclerosis Tangier disease Discipline: Clinical Chemistry Molecular biology Other keywords: microarrays risk factors, cardiovascular IZKF-Focus: Cardiovascular Signal Transduction Techniques and Methods:   Page 3 Workgroup Assmann/Rust B13 Contact Prof. Dr. G. Assmann, Dr. S. Rust Institut für Klinische Chemie und Laboratoriumsmedizin Albert-Schweitzer-Straße 33 48149 Münster Tel: 0251-83-47222 Fax: 0251-83-47225 Homepage: http://ear001.uni-muenster.de/index.html Email: assmann@uni-muenster.de   Links in this document http://ear001.uni-muenster.de/index.html

64. Identification And Analysis Of The Genes Involved In Cholesterol Efflux: Tangier genes involved in cholesterol efflux tangier disease as leading paradigm Denefle P, Assmann G (1999) tangier disease is caused by mutations in the http://www.acrc-gu.de/ptp/entries/00000896-en.php

ACRC Project- and Technology Platform OSCAR Stellen ... Print version Workgroup Assmann/Rust B13 Identification and analysis of the genes involved in cholesterol efflux: Tangier disease as leading paradigm Rust S, Rosier M, Funke H, Real J, Amoura Z, Piette JC, Deleuze JF, Brewer HB, Duverger N, Denefle P, Assmann G (1999) Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nat Genet 22: 352-355. Table of Contents Categories Contact Next » Last update: (c) 2001 Association of Clinical Research Centers of German Universities (ACRC)

65. Tangier Disease - Definition Of Tangier Disease In The Medical Dictionary - By T Definition of tangier disease in the Medical Dictionary and Thesaurus. Tangierdisease explanation. Information about tangier disease in Free online English http://medical-dictionary.thefreedictionary.com/Tangier disease

Domain='thefreedictionary.com' word='Tangier disease' Your help is needed: American Red Cross The Salvation Army join mailing list webmaster tools Word (phrase): Word Starts with Ends with Definition subscription: Dictionary/ thesaurus Computing dictionary Medical dictionary Legal dictionary Financial dictionary Acronyms Columbia encyclopedia Wikipedia encyclopedia Hutchinson encyclopedia Tangier disease 0.01 sec. Page tools Printer friendly Cite / link Email Feedback Tan·gier disease (t n-jîr n. An inheritable disorder of lipid metabolism characterized by almost complete absence from plasma of high-density lipoproteins, by storage of cholesterol esters in foam cells, and by enlargement of the liver, spleen, and lymph nodes. Also called familial high-density lipoprotein disease Mentioned in No references found Medical browser Full browser Tambocor tambour sound Tamm-Horsfall mucoprotein tamoxifen ... tangentiality Tangier disease tangoreceptor tannate Tanner growth chart Tanner stage ... Tangier Crisis Tangier disease Tangier Garrison Tangier Incident Tangier Island Tangier pea ... Tangier, Morocco - Boukhalef Souahel (Airport Code)

66. Liver May Be Source Of 'good' Cholesterol Learning more about tangier disease could help people with less severe cholesterol Parks said research into tangier disease is a good example of how http://www.eurekalert.org/pub_releases/2005-04/wfub-lmb040805.php

Public release date: 8-Apr-2005 E-mail Article Contact: Karen Richardson krchrdsn@wfubmc.edu Wake Forest University Baptist Medical Center Liver may be source of 'good' cholesterol WINSTON-SALEM, N.C. – Research in mice suggests that the liver may produce most of the body's "good" cholesterol, an unexpected finding that might one day help scientists develop new treatments to raise levels of this heart-protecting molecule in humans. In the May issue of the Journal of Clinical Investigation, researchers from Wake Forest University School of Medicine and colleagues will report on a project that used gene-targeting in mice to simulate a rare disease in people – Tangier disease. People with this genetic disease produce virtually no "good" cholesterol. "In studies of mice, we provided the first definitive proof that the liver is the source of about 80 percent of the high-density lipoprotein (HDL), or 'good' cholesterol, that circulates in the blood," said John S. Parks, Ph.D., senior researcher, from the school of medicine, which is part of Wake Forest University Baptist Medical Center. "Understanding more about how HDL is produced could lead to new treatments to raise its levels." Learning more about Tangier disease could help people with less severe cholesterol disorders, Parks said. Low levels of HDL are associated with higher risk of heart attacks, even when total cholesterol levels are normal.

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

68. THE FUTURE FORUM Mutations in the ABCA1 gene that have been reported in tangier disease include ABCA1 polymorphism causes familial HDL deficiency and tangier disease; http://www.thefutureforum.com/polymorph/liver_ATPbinding.asp

Board Members Calculators Interactive Case Studies Clinical Papers Converters Current Debate Emerging Therapies Emerging Risk Markers Events Executive Summaries Feedback Forum Meetings Guidelines Links Message Board My Mailbox Newsflash Online Members Password Poll Archive Polymorphism Person Preferences Publications Science Translated Sitemap Slide Library Webcast Webcast Archive Legal Notice Polymorphism person Liver proteins ATP-binding cassette transporter A1 (ABCA1) Gene Location Normal Function Expression Metabolic control ... Other mutations Chromosome 9q22-31 The ABC1 gene contains 49 exons, ranging from 33 to 249 bp in size, and > 70 kb in length. Return to top ATP-binding cassette transporter A1 (ABCA1) plays a major role in cholesterol homeostasis and HDL metabolism. ABCA1 encodes the key protein regulating the efflux of lipids from peripheral cells to HDL; these lipids are transported back to the liver and excreted as bile. Therefore, ABCA1 is the rate-limiting step in reverse cholesterol transport. Return to top ABCA1 is widely expressed and is particularly abundant in monocytes and macrophages.

69. Explore Transport Protein Diseases Human diseases caused by or associated with transporters A.1.211.1,tangier disease, ABC1 aka ABCA1, The cholesterol/phospholipid flippase, ABC1 (called http://www.tcdb.org/disease_explore.php

Search: TC#: Human diseases caused by or associated with transporters TC Disease Protein Name Description Accession # OMIM 1.A.1.15.2 Benign Neonatal Epilepsy 6 TMS voltage-gated K channel, KCNQ2 (mutations cause benign familial neonatal convulsions (BNFC; epilepsy)) (forms homotetramers or heterotetramers with KCNQ3) 1.A.1.15.3 Benign Neonatal Epilepsy 2 6 TMS voltage-gated K channel, KCNQ3 (mutations cause benign familial neonatal convulsions (BNFC; epilepsy)) (forms homotetramers or heterotetramers with KCNQ2) 1.A.1.15.4 Autosomal Dominant Nonsydromic Sensorineural Deafness 6 TMS cell volume sensitive, voltage-gated K channel, KCNQ4 (mutations cause DFNA2, an autosomal dominant form of progressive hearing loss) (forms homomers or heteromers with KCNQ3) (localized to the basal membrane of cochlear outer hair cells and in several nuclei of the central auditory pathway in the brainstem) 2.A.1.1.28 HTLV-1 Associated Myelopathy Gtr1 aka SLC2A1 aka GLUT1 The erythrocyte/brain hexose facilitator, Gtr1 or Glut1. Also transports dehydro- ascorbate and water via distinct channels. (Receptor for human T-cell leukemia virus (HTLV) (Manel et al., 2003))

70. 205400 TANGIER DISEASE; TGD Furthermore, in addition to the recessively inherited tangier disease, (1978) showed that deficiency of apolipoproteins in tangier disease is largely http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:205400] -e

71. 604091 HYPOALPHALIPOPROTEINEMIA, PRIMARY As in tangier disease, an autosomal recessive disorder, the dominantly inheriteddisorder familial hypoalphalipoproteinemia shows a reduction in cellular http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:604091] -e

72. Health/Conditions And Diseases/Nutrition And Metabolism Disorders/Cholesterol An tangier disease An explanation of this disease and its name, its causes and tangier disease by Jackie Newman An article about this rare disease, http://www.thedoctorslounge.net/dir/Health/Conditions_and_Diseases/Nutrition_and

Advertisement Powered by Careerbuilder Search for: Home Humor Advertising Contact ... Links Specialties Cardiology Chest diseases Dermatology Endocrinology ... Urology Other Sections Membership Research Tools Medical Tutorials Medical Software ... Specialized Centers Headlines: The Medical Website Directory Popular Categories Popular Links Web Sites report abuse/spam url: report-abuse.dmoz.org/?cat=Health/Conditions_and_D... Tangier Disease An explanation of this disease and its name, its causes and treatment. url: www.ncbi.nlm.nih.gov/books/bv.fcgi?call=bv.View..S... Tangier Disease by Jackie Newman An article about this rare disease, its history, characteristics of the disease and the treatments. url: www-personal.umd.umich.edu/~jcthomas/JCTHOMAS/1997... mozilla.org url: www.mozilla.org/ Wikipedia url: en.wikipedia.org/ edit url: editors.dmoz.org/editors/editcat.cgi?cat=Health/Co... More Search All the Web AltaVista Gigablast Google USENET ... Yahoo In association with ODP Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Are you a physician or a nurse?

73. NORD - National Organization For Rare Disorders, Inc. Synonyms of tangier disease. Alpha HighDensity Lipoprotein Deficieny tangier disease is an inherited blood disorder involving decreased concentrations http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=Tangier Disea

74. D3 MPI-INF Publications 2002-200N: Journal Article: Mutations In ABC1 In Tangier Mutations in ABC1 in tangier disease and familial highdensity lipoprotein TITLE = {Mutations in ABC1 in tangier disease and familial high-density http://domino.mpi-sb.mpg.de/intranet/ag3/ag3publ.nsf/0/7c08e154dde9668dc1256cf30

75. Tangier Disease: A Disorder Of Intracellular Membrane Traffic -- Schmitz Et Al. It is postulated that tangier disease may be a disorder of intracellular membrane Cellular cholesterol efflux in heterozygotes for tangier disease is http://www.pnas.org/cgi/content/abstract/82/18/6305

This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted ... Citation Map Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to My File Cabinet ... Cited by other online articles PubMed PubMed Citation Articles by Schmitz, G. Articles by Brennhausen, B. September 15, 1985 Tangier Disease: A Disorder of Intracellular Membrane Traffic G. Schmitz, G. Assmann, H. Robenek, and B. Brennhausen This article has been cited by other articles in HighWire Press -hosted journals: A. M. Vaughan and J. F. Oram ABCA1 redistributes membrane cholesterol independent of apolipoprotein interactions J. Lipid Res., July 1, 2003; 44(7): 1373 - 1380. [Abstract] [Full Text] [PDF] W. Chen, Y. Sun, C. Welch, A. Gorelik, A. R. Leventhal, I. Tabas, and A. R. Tall Preferential ATP-binding Cassette Transporter A1-mediated Cholesterol Efflux from Late Endosomes/Lysosomes J. Biol. Chem., November 23, 2001; 276(47): 43564 - 43569.

76. Tangier Disease: A Structural Defect In Apolipoprotein A-I (apoA-ITangier) -- Ka tangier disease is a familial disorder characterized by orange tonsils, cholesterolester deposition in reticuloendothelial cells, abnormal chylomicron http://www.pnas.org/cgi/content/abstract/79/8/2485

This Article Full Text (PDF) Alert me when this article is cited Alert me if a correction is posted Services Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal Add to My File Cabinet ... Cited by other online articles PubMed PubMed Citation Articles by Kay, L. L. Articles by Brewer, H.B. April 15, 1982 Tangier Disease: A Structural Defect in Apolipoprotein A-I (apoA-I Tangier Linda L. Kay, Rosemary Ronan, Ernst J. Schaefer, and H.Bryan Brewer Tangier disease is a familial disorder characterized by orange tonsils, cholesterol ester deposition in reticuloendothelial cells, abnormal chylomicron remnants, and a marked reduction in high density lipoproteins. Plasma concentrations of the apolipoproteins apoA-I and apoA-II in patients with Tangier disease are approximately 1% and 7% of those in normal subjects, respectively. Previous studies have shown that the low plasma concentrations of apoA-I and apoA-II are due to increased fractional catabolism with a relatively normal apoA-I and apoA-II synthesis. Plasma apoA-I and apoA-II were isolated to electrophoretic homogeneity from delipidated plasma lipoproteins from a patient with Tangier disease. apoA-I Tangier differed from apoA-I from control subjects in amino acid composition, electrophoretic mobility, apparent molecular weight on sodium dodecyl sulfate/polyacrylamide gel electrophoresis, and heterogeneity of isoforms on isoelectric focusing. apoA-I

77. GSC - Faculty 1999 Discovery of the genetic basis for tangier disease (TD) and Mutations inABC1 in tangier disease and familial highdensity lipoprotein deficiency. http://www.bcgsc.ca/about/faculty/person?pid=awilson

78. Science -- Sign In called tangier diseaseafter the name of the islandcharacterized by a a region of chromosome 9 as the location of the tangier disease gene. http://www.sciencemag.org/cgi/content/full/285/5429/814

You do not have access to this item: Full Text : Gura, CELL BIOLOGY:Gene Linked to Faulty Cholesterol Transport, Science You are on the site via Free Public Access. What content can I view with Free Public Access If you have a personal user name and password, please login below. SCIENCE Online Sign In Options For Viewing This Content User Name Password this computer. Help with Sign In If you don't use cookies, sign in here Join AAAS and subscribe to Science for free full access. Sign Up More Info Register for Free Partial Access including abstracts, summaries and special registered free full text content. Register More Info Pay per Article 24 hours for US $10.00 from your current computer Regain Access to a recent Pay per Article purchase Need More Help? Can't get past this page? Forgotten your user name or password? AAAS Members activate your FREE Subscription

79. Summary For AfCS Protein A002599 - Signaling Gateway 1989), tangier disease (BrooksWilson et al. 1999; Rust et al. 1999; Bodzioch et al.1999), Stargardt disease (Allikmets et al. http://www.signaling-gateway.org/molecule/query?afcsid=A002599&type=abstract

80. Tangier Disease--a Diagnostic Challenge In Countries Endemic For Leprosy -- Sinh http://www.jnnp.com/cgi/reprint/75/2/301

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