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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. Lipids Online Slides: Apolipoprotein A-ii, Tonsils, Tangier Disease
    tangier disease is a very rare autosomal codominant condition due to mutations in both alleles of the ATPbinding cassette protein 1 (ABC1) gene.  
    http://www.lipidsonline.org/slides/slide01.cfm?q=apolipoprotein a-ii&dpg=3

62. Dominique Verlaan - Cholesterol Efflux...
    Dominique Verlaan. Cholesterol Efflux tangier disease and the Abc1 gene. tangier disease (TD) is a rare autosommaly recessive inherited Mendelian disease.  
    http://ww2.mcgill.ca/biology/undergra/c524a/dom.htm
    
    Extractions: Dominique Verlaan Cholesterol Efflux: Tangier Disease and the Abc1 gene Tangier Disease (TD) is a rare autosommaly recessive inherited Mendelian disease. Affected individuals usually present very large orange tonsils, enlarged liver, spleen and lymph nodes and most importantly have reduced level of high density lipoproteins (HDL) in their plasma as well as hypocholesterolemia. TD was previously linked to chromosome 9q31. Brooks-Wilson et al. (1999) have done linkage analysis in two TD families in the region of 9q31 and have found a 10 cM candidate region. Mutation screening was performed on three possible gene found in that region, which could be involved in cholesterol efflux. The two TD families were found to have mutations in the Abc1 gene. Those mutations segregate with complete concordance within the family. TD and familial HDL deficiency (FHA) are also shown to be allelic disorder. The Abc1 gene encodes an ATP-binding cassette transporter and is a key gatekeeper in intracellular cholesterol transport. It is part of a superfamily of conserved protein involved in membrane transport of diverse substrates such as amino acids, peptides, vitamins and steroid hormones. Orso et al.

63. The Establishment Of Telomerase-immortalized Tangier Disease Cell Lines Indicate
    The establishment of telomeraseimmortalized tangier disease cell lines indicates the existence of an apolipoprotein AI-inducible but ABCA1-independent  
    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 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 fibroblasts (reduced cholesterol and phospholipid efflux) were observed both in primary and telomerase-immortalized fibroblasts from two unrelated homozygous patients.

64. HNRCA : Cellular Cholesterol Efflux In Heterozygotes For Tangier Disease Is Mark
    Cellular cholesterol efflux in heterozygotes for tangier disease is markedly reduced and correlates with high density lipoprotein cholesterol concentration and  
    http://hnrcwww.hnrc.tufts.edu/publications/detail.php?id=111687

65. HNRCA : Identification Of The Molecular Defect In Tangier Disease: Mutations In
    RH, Gu JZ. Novel mutations in the gene encoding ATPbinding cassette 1 in four tangier disease kindreds. J Lipid Res 2000;41433-41.  
    http://hnrcwww.hnrc.tufts.edu/publications/detail.php?id=104797

66. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Nutrition_and_Meta
    More books about Tangier . Links about Tangier tangier disease An explanation of this disease and its name, its causes and treatment.  
    http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Nutrition_a

67. Www.dictionarybarn.com/TANGIER-DISEASE.php
    April, 2001April, 2001. Diagnosis. tangier disease. Discussion. tangier disease is a rare autosomal recessive disorder characterized by absence  
    http://www.dictionarybarn.com/TANGIER-DISEASE.php

68. ABCA1
    CM990001, 339, GTGGCG, Val-Ala, tangier disease, 4. CM993803, 527, gCGG-TGG, Arg-Trp, tangier disease, 5. CM990002, 530, TGG-TCG, Trp-Ser, tangier disease, 4.  
    http://archive.uwcm.ac.uk/uwcm/mg/ns/1/305294.html
    
    Extractions: Number Codon Nucleotide Amino acid Phenotype Reference CCG-CTG Pro-Leu HDL deficiency AGG-AAG Arg-Lys Higher plasma HDL cholesterol, association with tCGT-TGT Arg-Cys Hypoalphalipoproteinaemia gGCC-ACC Ala-Thr HDL deficiency GTG-GCG Val-Ala Tangier disease gCGG-TGG Arg-Trp Tangier disease TGG-TCG Trp-Ser Tangier disease CAG-CGG Gln-Arg Tangier disease TACg-TAG Tyr-Term Tangier disease ATAt-ATG Ile-Met Higher plasma HDL cholesterol, association with cCGA-TGA Arg-Term HDL deficiency ACC-ATC Thr-Ile Tangier disease cAAT-CAT Asn-His Tangier disease AAT-AGT Asn-Ser Tangier disease GCG-GTG Ala-Val Tangier disease GCC-GAC Ala-Asp Tangier disease ATG-ACG Met-Thr HDL deficiency gGAC-TAC Asp-Tyr HDL deficiency tGAT-AAT Asp-Asn Tangier disease gTGT-CGT Cys-Arg Tangier disease TCG-TTG Ser-Leu HDL deficiency cAAT-GAT Asn-Asp HDL deficiency cAAT-CAT Asn-His Tangier disease aCGA-TGA Arg-Term HDL deficiency TTC-TCC Phe-Ser HDL deficiency gCGG-TGG Arg-Trp Tangier disease aCGA-TGA Arg-Term HDL deficiency CCG-CTG Pro-Leu Hypoalphalipoproteinaemia References 1 - Hong (2002) Atherosclerosis 2 - Clee (2001) Circulation ... Biochim Biophys Acta

69. Africa Travel: Discover Holidays Safaris Hotels Guides.
    tangier disease tangier disease Disease Type Genetic Disease SubType Chromosome 9 Pathology In tangier disease exact link between the underlying cause, and  
    http://www.discover-morocco.co.uk/Tangier.html
    
    Extractions: GO TO www.kuoni.co.uk Encyclopaedia of the Orient ... 1471: Tangier is given to Charles 2 of England as dowry, by the Portuguese, who had captured ... 1912: Tangier, together with 363 km² inland, is turned into an ... GO TO i-cias.com LitKicks: Tangier The beat legacy of Tangier, Morocco ... America and Mexico, Burroughs chose to hide in Tangier after reading about it in the works of Paul ... became Burroughs' close friends in Tangier, as did his future collaborator Brion ... GO TO www.charm.net Tangier, Morocco: When charm fades Travel related article on this destination. Photos and interactive map. ... Falling in love with Tangier is not all that easy ... down on unpleasant guiding, nothing has changed in Tangier, and the strong ties between the police, local authorities ... GO TO lexicorient.com

70. TANGIER DISEASE
    Name. tangier disease Synonyms. The unique appearance of the tonsils makes it possible to diagnose tangier disease by the examination of the oropharynx.  
    http://malattierare.pediatria.unipd.it/pubblicaMR/mr_dx_ing.asp?mr=498

71. MALATTIA DI TANGIER
    Translate this page Bibliografia. Oram-JF Novel approaches to treating cardiovascular disease lessons from tangier disease EXPERT-OPINION-ON-INVESTIGATIONAL-DRUGS.  
    http://malattierare.pediatria.unipd.it/pubblicaMR/mr_dx.asp?mr=498

72. BIO 1181 Exam 3
    Use appropriate gene. symbols, which you define. 4. (10 pts) tangier disease is prevalent among residents of Tangier Island in the Chesapeake Bay.  
    http://www38.homepage.villanova.edu/john.friede/exam3.htm
    
    Extractions: 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?

73. Alphabetic List, Diseases And Disorders
    A. Aalphalipoprotein Neuropathy ( see tangier disease) Abdominal Cramps ( see Colic) Abdominal Injuries Abnormalities Abortion, Induced Abscess Abscess, Amebic  
    http://www.mic.ki.se/Diseases/Alphalist.html

74. [Tangier Disease Collage] [1960s]
    The Donald S. Fredrickson Papers. Title tangier disease collage (high resolution jpg) High resolution version (60,406,144 Bytes).  
    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

75. Tangier Disease: Tonsils May Cure Hearts [1967]
    Title tangier disease Tonsils May Cure Hearts pdf (413,322 Bytes) Number of Image Pages 1 (413,322 Bytes) Date Supplied 1967 Creator Pruitt, John Source  
    http://profiles.nlm.nih.gov/FF/B/B/F/N/
    
    Extractions: Skip navigation Home Collection Home Search ... About Exhibit Category: Lipid Metabolism and Genetic Disease, 1953-1974 Relation: [Tangier disease collage] [1960s] Box Number: Unique Identifier: FFBBFN Document Type: Articles Language: English Format: application/pdf image/tif Physical Condition: Good Series: Personal and Biographical, 1914-2002, bulk dates 1960-90 Metadata Last Modified Date: U.S. National Library of Medicine , 8600 Rockville Pike, Bethesda, MD 20894

76. Frame 5 Coding Tabelle
    S, Bernini F, Zanotti I, Vergani C, Bertolini S, Calandra S. Abnormal splicing of ABCA1 premRNA in tangier disease due to a IVS2 +5G C mutation in ABCA1 gene.  
    http://www.uni-regensburg.de/Fakultaeten/Medizin/Klinische_Chemie/frame5_coding.
    
    Extractions: References [2] Hong SH, Rhyne J, Zeller K, Miller M. ABCA1(Alabama): a novel variant associated with HDL deficiency and premature coronary artery disease. Atherosclerosis 2002; 164:245-50 [3] Wang J, Burnett JR, Near S, Young K, Zinman B, Hanley AJ, Connelly PW, Harris SB, Hegele RA. Common and rare ABCA1 variants affecting plasma HDL cholesterol. Arterioscler Thromb Vasc Biol 2000; 20:1983-9 [4] Brousseau ME, Bodzioch M, Schaefer EJ, Goldkamp AL, Kielar D, Probst M, Ordovas JM, Aslanidis C, Lackner KJ, Bloomfield RH, Collins D, Robins SJ, Wilson PW, Schmitz G. Common variants in the gene encoding ATP-binding cassette transporter 1 in men with low HDL cholesterol levels and coronary heart disease. Atherosclerosis 2001; 154:607-11 [5] Clee SM, Zwinderman AH, Engert JC, Zwarts KY, Molhuizen HO, Roomp K, Jukema JW, van Wijland M, van Dam M, Hudson TJ, Brooks-Wilson A, Genest J, Jr., Kastelein JJ, Hayden MR. Common genetic variation in ABCA1 is associated with altered lipoprotein levels and a modified risk for coronary artery disease. Circulation 2001; 103:1198-205 [6] Nishida Y, Hirano K, Tsukamoto K, Nagano M, Ikegami C, Roomp K, Ishihara M, Sakane N, Zhang Z, Tsujii KK, Matsuyama A, Ohama T, Matsuura F, Ishigami M, Sakai N, Hiraoka H, Hattori H, Wellington C, Yoshida Y, Misugi S, Hayden MR, Egashira T, Yamashita S, Matsuzawa Y. Expression and functional analyses of novel mutations of ATP-binding cassette transporter-1 in Japanese patients with high-density lipoprotein deficiency. Biochem Biophys Res Commun 2002; 290:713-21

77. Ingenta: Article Summary -- Tangier Disease With Unusual Clinical Manifestations
    tangier disease with unusual clinical manifestations Clinical Genetics April 2003, vol. 63, no. 4, pp. 323324(2) Kolovou GD; Wade  
    http://www.ingenta.com/isis/searching/ExpandTOC/ingenta?issue=pubinfobike://mksg

78. PillSupplier.com - Detailed View " Tangier Disease "
    Home Conditions and Diseases Nutrition and Metabolism Disorders Cholesterol and Other Fats Tangier tangier disease. Title  
    http://www.pillsupplier.com/dir/detail/7255.html

79. PillSupplier.com - Detailed View " Tangier Disease By Jackie Newman "
    Home Conditions and Diseases Nutrition and Metabolism Disorders Cholesterol and Other Fats Tangier tangier disease by Jackie Newman.  
    http://www.pillsupplier.com/dir/detail/7256.html

80. 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
    
    Extractions: 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

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