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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

41. Neuromuscular Diseases
The spectrum of POEMS syndrome Miralles et al. '92; PubMed Abstract. TangierDisease About tangier disease A Hutchins (UK). Refsum Disease
http://www.mic.ki.se/Diseases/c10.668.html
search help staff
Neuromuscular Diseases
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.

42. Volume 106 January - December 1983
Peripheral neuropathy in tangier disease. M . Pollock , H . Nukada, RW . Frith , JP . Simcock and S . Allpress. Pages 911 928.
http://www3.oup.co.uk/jnls/supplements/braini/hdb/Volume_106/Issue_04/1060911.sg
Volume 106: January - December 1983
Issue 4: December 1983
Abstract
  • Peripheral neuropathy in Tangier disease
  • M Pollock H Nukada RW Frith JP Simcock and S Allpress Pages: Part of the OUP Brain WWW service
    General Information
    Click here to register with OUP. This page is maintained by OUP admin Last updated 14 May 97 Part of the OUP Journals World Wide Web service Oxford University Press, 1997

    43. 1Up Health > Health Links Directory > Conditions And Diseases: Nutrition And Met
    Sites. tangier disease An article about his disease, its symptoms,clinical symptoms, diagnosis and some dietary changes. Tangier
    http://www.1uphealth.com/links/cholesterol-and-other-fats-tangier.html
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    Sites Tangier Disease An article about his disease, its symptoms, clinical symptoms, diagnosis and some dietary changes. Tangier Disease An explanation of this disease and its name, its causes and treatment. Tangier Disease by Jackie Newman An article about this rare disease, its history, characteristics of the disease and the treatments. Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Parts of the directory made available on 1UpHealth have been modified. External Web site links provided on this site are meant for convenience and for informational purposes only; they do not constitute an endorsement. Search: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites.

    44. SCIENCE IMAGES-GENETIC-Tangier Disease
    Mount Allison Science Image Collection Genetic Diseases tangier disease. Tangier'sdisease occurs in subjects homozygous for an autosomal mutant allele.
    http://aci.mta.ca/Courses/Biology/Images/genetic folder/TangierDisease.html

    Back to List of Genetic Diseases
    Back to Main Image Page Mount Allison University
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    Genetic Diseases-
    Tangier Disease
    Tangier Disease - this rare disorder is named after the Chesapeake Bay island home of the first two patients described. It is characterized by an extreme deficiency of blood high density lipoprotein (HDL) and a distinctive orange-yellow coloration of the tonsils. Tangier's disease occurs in subjects homozygous for an autosomal mutant allele. Consanguinity has been demonstrated in several cases.
    (Image 93)
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    Last updated 3.15.98

    45. Health Library - Tangier Disease
    Advanced Search. tangier disease. Synonyms Disorder Subdivisions GeneralDiscussion Resources National Organization for Rare Disorders.
    http://www.stjudemedicalcenter.org/library/healthguide/IllnessConditions/topic.a

    46. Zeal.com - United States - New - Personal - Health - Conditions & Illnesses - Br
    Personal Health - Conditions Illnesses - Brain Nervous System - More Conditions- Neuromuscular Diseases - Peripheral Nervous System - tangier disease.
    http://www.zeal.com/category/preview.jhtml?cid=10067947

    47. GASNet Anesthesiology: Tangier Disease
    tangier disease (Analphalipoproteinemia) symptoms and caveats
    http://gasnet.med.yale.edu/pediatric-syndromes/tangier.php

    48. Clin_Nutr_Research
    Expression of the ATPbinding cassette transporter gene ABCG1 (ABC8)in tangier disease (in Cooperation with Dr. S. Lorkowski, IfA)
    http://ear001.uni-muenster.de/Pages_Clin_Nutr/Clin_Nutr_Research.htm
    Research Finished projects Treatment of hypertriglyceridemia by two diets rich either in unsaturated fatty acids or in carbohydrates: Effects on lipoprotein subclasses, lipolytic enzymes, lipid transfer proteins, insulin and leptin International Journal of Obesity and related metabolic disorders Expression of the ATP-binding cassette transporter gene ABCG1 (ABC8) in Tangier disease (in Cooperation with Dr. S. Lorkowski, IfA) Lorkowski S, Kratz M, Wenner C, Weitkamp B, Fobker M, Rauterberg J, Reinhard J, Galinski EA, Assmann G, Cullen P. Expression of the ATP-binding cassette transporter gene ABCG1 (ABC8) in Tangier disease. Biochimica et Biophysica Research Acta Effect of dietary fatty acid composition on haemostasis, platelet activation, and fibrinolysis The knowledge on the effect of dietary fatty acids on haemostasis and thrombosis is incomplete. We have therefore investigated how diets rich in monounsaturated fatty acids (based on olive oil), monounsaturated and n-3-polyunsaturated fatty acids (based on rapeseed oil), or n-6-polyunsaturated fatty acids (based on sunflower oil) influence established risk factors for coronary heart disease such as Factor VII, fibrinogen, or plasminogen activator inhibitor-1 and other parameters of the haemostatic system and platelet function. Haemostasis and Thrombosis

    49. Attie Lab, Our Research, HDL Metabolism
    tangier disease and Familial Hypoalphalipoproteinemia. tangier diseaseis a rare recessive disorder in which patients have almost no HDL.
    http://www.biochem.wisc.edu/attie/researchHDL.html
    Attie Lab
    Research
    Our research
    Lipoprotein Assembly

    HDL Metabolism Members of the Lab Education Attie Lab alumni Post-doc information ...
    UW-Madison

    Biochemistry and Cell Biology of ABCA1 and HDL Deficiency Syndromes Clinical Implications HDL deficiency is strongly correlated with risk of premature heart disease. In some studies, about 30% of patients with premature heart disease have low HDL while only about 20% have elevated LDL. Thus, HDL deficiency might be the most common metabolic disorder that raises the risk of heart disease. HDL metabolism; the reverse cholesterol transport hypothesis
    LDL is thought to be pro-atherogenic because of its ability to deliver cholesterol to cells in the arterial wall, principally macrophages and smooth muscle cells. If there is net deposition of cholesterol to cells that have no enzymes for breaking down cholesterol, what do the cells do to prevent cholesterol overload? Cells are able to rid themselves of excess cholesterol if there is a suitable acceptor particle in its milieu. HDL is capable of taking on cholesterol. When it does, the cholesterol is converted to cholesterol ester by a blood-borne enzyme, lecithin;cholesterol acyltransferase (LCAT). The HDL particles can then travel to the liver where they dock with a cell surface receptor, SR-B1. The interaction of HDL with SR-B1 results in the selective transfer of cholesterol esters to the inside of the hepatocytes. Here, the cholesterol can be converted to bile acids or simply secreted into the bile, along with phospholipids and bile acids. Biliary secretion is the most important route of excretion of cholesterol.

    50. Science News Online (8/28/99): References: Treasure Hunt Unearths Cholesterol Ge
    The isolation of a gene that causes tangier disease and affects the amount of good cholesterol in the blood may lead to treatments for heart disease.
    http://www.sciencenews.org/sn_arc99/8_28_99/fob4ref.htm
    Treasure hunt unearths cholesterol gene The isolation of a gene that causes Tangier disease and affects the amount of "good" cholesterol in the blood may lead to treatments for heart disease. References: Bodzioch, M. . . . and G. Schmitz. 1999. The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease. Nature Genetics 22(August):347. Brooks-Wilson A. . . . and M.R. Hayden. 1999. Mutations in in Tangier disease and familial high-density lipoprotein deficiency. Nature Genetics 22(August):336. Rust, S. . . . H.B. Brewer . . . and G. Assmann. 1999. Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1. Nature Genetics 22(August):352. Further Readings: Young, S.G., and C.J. Fielding. 1999. The ABCs of cholesterol efflux. Nature Genetics 22(August):316. Sources: Gerd Assmann
    Westfälische Wilhelms-Universität, Münster
    Institut für Klinische Chemie und Laboratoriumsmedizin
    Albert-Schweitzer-Strabe 33
    D-48149 Münster
    Germany H. Bryan Brewer Jr.

    51. Health Library - Tangier Disease
    HealthSource, tangier disease. Synonyms Disorder Subdivisions GeneralDiscussion Resources National Organization for Rare Disorders.
    http://www.memorialhealthsource.com/library/healthguide/IllnessConditions/topic.

    52. Haberman Associates: Functional Genomics, January 2000
    in the gene for a protein known as ABC1 are the cause of a rare human genetic disease(involving abnormalities in lipid metabolism) called tangier disease.
    http://www.biopharmconsortium.com/articlejan2000.html
    High-throughput functional genomics technology is not enoughyou have to do the biology, too
    Allan B. Haberman, Ph.D. January 2000 (updated on May 31, 2000)
    As researchers race to complete the sequencing of the human genome, functional genomics is becoming increasingly important for the success of companies' genomics-based drug discovery and development efforts. It is not enough to know sequence information in order to utilize genomics to develop breakthrough drugs and diagnostics. One must also understand how genes and their products work, how they interact in pathways within the cell and the organism, and what roles they play in health and disease. As a result, drug discovery researchers are moving into a "post-genomic", functional genomics era. Functional genomics aims to discover the biological function of particular genes, and how sets of genes and their products work together in health and disease. In its broadest definition, functional genomics encompasses many traditional molecular genetic and other biological approaches. More recently, however, functional genomics has come to be used to describe high-throughput approaches to whole-genome or system-wide molecular genetic studies. Many leading pharmaceutical companies are making major investments in this field, often partnering with smaller genomics and biotechnology companies that are developing functional genomics platform technologies. Haberman Associates, working together with Cambridge Healthtech Institute (CHI) has produced a comprehensive report, entitled

    53. Tangier : Meddie Health Search
    ITEMS LINKS tangier disease An explanation of this disease and itsname, its causes and treatment. (Rating 0.00 Votes 0) Rate
    http://www.meddie.com/search/Health/Conditions_and_Diseases/Nutrition_and_Metabo
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    Search Meddie: the entire directory only this category More search options Home Health Conditions and Diseases ... Cholesterol and Other Fats : Tangier ITEMS: LINKS:
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      An article about his disease, its symptoms, clinical symptoms, diagnosis and some dietary changes.
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      An article about this rare disease, its history, characteristics of the disease and the treatments.
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    54. HUM-MOLGEN: The Inside Story Of Tangier Disease (The Scientist)
    Author, Topic The inside story of tangier disease (The Scientist). Tangierdisease is a rare genetic disorder of lipid metabolism.
    http://hum-molgen.org/bb/Forum7/HTML/000552.html
    home genetic news bioinformatics biotechnology ... register for news alert The inside story of Tangier Disease (The Scientist) September, 27 2001 15:54 Tangier disease is a rare genetic disorder of lipid metabolism. Study of this disease has provided important insight into cholesterol metabolism and a common metropolitan disease, coronary artery disease. This article presented interviews with some of the key players: Michael R. Hayden, director and senior scientist, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Canada; Stephan Rust, cholesterol metabolism group leader at the Institut für Arterioskleroseforschung an der Westfälischen Wilhelms-Universistät; and Gerd Schmitz, a physician and director of the Institut for Clinical Chemistry and Laboratory Medicine, University Hospital, Regensburg. Full story in The Scientist, Oct 1, 2001
    Author: awilo
    Generated by News Editor 2.0 by Kai Garlipp
    WWW: Kai Garlipp Frank S. Zollmann
    HUM-MOLGEN

    55. Identification And Analysis Of The Genes Involved In Cholesterol Efflux: Tangier
    Arbeitsgruppe Assmann/Rust B13. Identification and analysis of the genesinvolved in cholesterol efflux tangier disease as leading paradigm.
    http://www.acrc-gu.de/ptp/entries/00000896-de-01.php
    ACRC PTP KlinikPatent OSCAR ...
    PTP-Search

    Arbeitsgruppe 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.
    Inhaltsverzeichnis
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    Last update: (c) 2001 Association of Clinical Research Centers of German Universities (ACRC)

    56. Gene Targeting Of The Murine ABCG1 Gene And Phenotypic Characterization Of ABCG1
    cholesterol. ABCA1 deficiency (tangier disease) causes HDL- deficiency,premature arteriosclerosis and coronary heart disease. In
    http://www.acrc-gu.de/ptp/entries/00000897-de-01.php
    ACRC PTP KlinikPatent OSCAR ...
    PTP-Search

    Arbeitsgruppe Assmann/Seedorf B9
    Gene targeting of the murine ABCG1 gene and phenotypic characterization of ABCG1 null mice
    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.
    Kannenberg F, Ellinghaus P, Assmann G, Seedorf U (1999) Aberant oxidation of the cholesterol side chain in bile acid synthesis of sterol carrier protein-2/sterol carrier protein-x knockout mice. J Biol Chem 274: 35455-35460.
    Inhaltsverzeichnis
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    Last update: (c) 2001 Association of Clinical Research Centers of German Universities (ACRC)

    57. Searchalot Directory For Tangier
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    • Tangier Disease - An article about his disease, its symptoms, clinical symptoms, diagnosis and some dietary changes.
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    58. GSC - Faculty
    1999 Discovery of the genetic basis for tangier disease (TD) and Familial HighdensityLipoprotein (HDL) Deficiency with defective cholesterol efflux (FHD).
    http://www.bcgsc.ca/about/faculty/person?pid=awilson

    59. Universität Münster: Forschungsbericht 1997-98 - Inhaltsverzeichnis Institut F
    Translate this page The high density lipoprotein- and apolipoprotein AI-induced mobilization of cellularcholesterol is impaired in fibroblasts from tangier disease subjects.
    http://www.uni-muenster.de/Rektorat/Forschungsberichte-1997-1998/fo05ahe01.htm
    Forschungsbericht 1997-98
    Tel. (0251) 83-47222
    Fax: (0251) 83-47225
    e-mail: assmann@uni-muenster.de
    WWW: http://wwwlabor.uni-muenster.de Direktor: Prof. Dr. med. Gerd Assmann, FRCP Forschungsschwerpunkte 1997 - 1998
    Lipoprotein-vermittelte Signaltransduktion, PD Dr. Michael Walter (Leiter), Dr. med. J. Roch Nofer
    HDL-vermittelte Signaltransduktion und Cholesterinstoffwechsel
    Walter, M., U. Gerdes, U. Seedorf, G. Assmann : The high density lipoprotein- and apolipoprotein A-I-induced mobilization of cellular cholesterol is impaired in fibroblasts from Tangier disease subjects. Biochem Biophys Res Commun Walter, M., S. Kerber, C. Fechtrup, U. Seedorf, G. Breithardt, G. Assmann : Characterization of atherosclerosis in a patient with familial high density lipoprotein deficiency (Tangier disease). Atherosclerosis Walter, M., H. Reinecke, J.-R. Nofer, U. Seedorf, G. Assmann : HDL stimulates multiple signaling pathways in human skin fibroblasts. Arterioscler Thromb Vasc Biol : Defective regulation of phospatidylcholine-specific phospholipases C and D in a kindred with Tangier disease.

    60. BIO 1181 Exam 3
    Use appropriate gene. symbols, which you define. 4. (10 pts) tangier diseaseis prevalent among residents of Tangier Island in the Chesapeake Bay.
    http://www38.homepage.villanova.edu/john.friede/exam3.htm
    1. (10 pts) Complete the following table, which relates to cell division in humans, by filling in the blanks. Number of Number of Amount of
    chromosomes chromatids DNA
    per cell per chromosome per cell G1 of the mitotic
    cell cycle 46 Prophase of the first
    meiotic division Prophase of the second
    meiotic division Immediately after the
    second meiotic division 3.2 pg* * One picogram (pg) is 1/1,000,000,000,000 grams. 2. (10 pts) Becker muscular dystrophy is a mild inherited form of the disease and is determined by a recessive X-linked gene. An unaffected woman, whose father has Becker muscular dystrophy, is married to a normal man. a) What is the probability that their first child will be an affected male? b) What is the probability that their first child will be an affected female?

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