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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

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
    
    Extractions: 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 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
    
    Extractions: Aging Research Center Home Page All Previous Aging Related Articles On-line Medical Dictionary National Library of Medicine's PubMed directory of MEDLINE citations. - 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

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

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
    
    Extractions: 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

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
    
    Extractions: Wake Forest University Baptist Medical Center 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
    
    Extractions: 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) 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

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
    
    Extractions: Search: TC#: 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,

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

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
    
    Extractions: 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

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
    
    Extractions: 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
    
    Extractions: 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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