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

Back to main menu 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

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 pbathway. - 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

Match: sort by: relevance date Free Services Subscribe by email RSS newsfeeds PDA-friendly format loc="/images/" A A A Find Jobs In: Healthcare Engineering Accounting College Contract / Freelance Customer Service Diversity Engineering Executive Healthcare Hospitality Human Resources Information Tech International Manufacturing Nonprofit Retail All Jobs by Job Type All Jobs by Industry Relocating? Visit: Moving Resources Moving Companies Mortgage Information Mortgage Calculator Real Estate Lookup Front Page Today's Digest Week in Review Email Updates ... Cholesterol and Other Fats Tangier (2 links) See Also: Health: Conditions and Diseases: Neurological Disorders: Muscle Diseases Health: Conditions and Diseases: Rare Disorders News about Tangier Gene Discoveries Among Top 10 Research Advances In Heart Disease And Stroke For 1999 (January 3, 2000) full story [ More news about Tangier Books about Tangier Amazon.com's Price: Prices subject to change. What Doctors Don't Tell You: : The Truth About The Dangers Of Modern Medicine by: Lynne McTaggart 03 August, 1999 List Price: Amazon.com's Price:

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

Nucleotide substitutions (missense / nonsense) Accession 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 HGMD

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

Welcome Africa America Canaries ... Add Your Site We supply cheap holidays, flights and UK days out from a large number of tour operators. Search Select From All Inclusive In Tangier Apartments In Tangier Car Hire In Tangier Family Holidays In Tangier ... Travel Insurance TANGIER Read and write reviews on Morocco Holidays in Tangier - dream holiday, think Kuoni Create and book your dream holiday in minutes. Kuoni offer tailormade holidays to hundreds of destinations across the globe. 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

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?

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

search search staff sitemap ABOUT KAROLINSKA INSTITUTET ... print this page Alphabetic List of Specific Diseases/Disorders Start Page A B C ... Z A A-alphalipoprotein Neuropathy ( see Tangier Disease) Abdominal Cramps ( see Colic) Abdominal Injuries Abnormalities Abortion, Induced Abscess ... Abscess, Amebic ( see Amebiasis) Abscess, Retropharyngeal ( see Retropharyngeal Abscess) Acantholysis Bullosa ( see Epidermolysis Bullosa) Acariasis ( see Mite Infestations) Achalasia, Esophageal ( see Esophageal Achalasia) Achondroplasia Achromatopsia ( see Color Vision Defects) Acid-Base Imbalance Acidosis Acidosis, Diabetic ( see Diabetic Ketoacidosis) Acne ( see Acne Vulgaris) Acne Rosacea Acne Vulgaris Acoustic Neuroma ( see Neuroma, Acoustic) Acquired Childhoood Aphasia with Convulsive Disorder ( see Landau-Kleffner Syndrome) Acquired Facial Neuropathy ( see Facial Nerve Diseases) Acquired Hyperostosis Syndrome Acquired Immunodeficiency Syndrome Acrocephalosyndactylia Acrocephaly ( see Craniosynostoses) Acrodysplasia V ( see Langer-Giedion Syndrome) Acromegaly Actinic Reticuloid Syndrome ( see Photosensitivity Disorders) Actinomyces Infections ( see Actinomycosis) Actinomycosis Action Tremor ( see Tremor) Acupuncture Therapy Acute Autoimmune Neuropathy ( see Guillain-Barre Syndrome) Acute Confusional Migraine ( see Migraine) Acute Confusional Senile Dementia ( see Alzheimer Disease) Acute Inflammatory Demyelinating Polyradiculoneuropathy ( see Guillain-Barre Syndrome) Acute Inflammatory Polyneuropathy ( see Guillain-Barre Syndrome) Acute Yellow Atrophy ( see LIVER DISEASES)

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/

Skip navigation Home Collection Home Search ... About The Donald S. Fredrickson Papers Title: [Tangier disease collage] High resolution version (60,406,144 Bytes) Description: A collage showing (clockwise from top left) Donald S. Fredrickson and Paul Altrocchi sitting on a boat; a clipping from a magazine article announcing Fredrickson's discovery; the location of Tangier Island, Virginia in the Chesapeake Bay; unidentified object; unidentified woman; a photo of infected tonsils; and patients Timothy Laird and sister Elaine with their mother, Frances. Item is a photocopy. Number of Image Pages: 1 (1,432,358 Bytes) Date Supplied: Rights: Courtesy of Donald S. Fredrickson. The National Library of Medicine's Profiles in Science profiles@nlm.nih.gov Subject: Medical Subject Headings (MeSH): Tangier Disease 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/

Skip navigation Home Collection Home Search ... About The Donald S. Fredrickson Papers Title: Tangier Disease: Tonsils May Cure Hearts Number of Image Pages: 1 (413,322 Bytes) Date Supplied: Creator: Pruitt, John Source: Periodical: Pruitt, John. "Tangier Disease: Tonsils May Cure Hearts." Virginian- Pilot, ([1967]). Article. 1 Image. Publisher: Interactive Media Rights: Reproduced with permission of the Virginian-Pilot. Subject: Medical Subject Headings (MeSH): Tangier Disease 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 SubSeries: Newspaper Clippings Folder: Virginia Pilot - "Tonsils May Cure Hearts" Metadata Last Modified Date: U.S. National Library of Medicine , 8600 Rockville Pike, Bethesda, MD 20894 National Institutes of Health Privacy Accessibility Comments ... Acknowledgments

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.

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

Detailed View HOME ABOUT US ORDER STATUS BMI CALCULATOR ... CONTACT US Prescription Drugs Diet Pills Adipex Bontril Didrex ... Tangier : Tangier Disease Title: Tangier Disease URL: http://www.ncbi.nlm.nih.gov/disease/tangier.html Description: An explanation of this disease and its name, its causes and treatment. Statistics Added: Mon Sep 01 2003 Hits: Rating: 0.00 Votes: Visit this link Search Looking for something in particular? More search options Pages Updated On: Fri May 28 2004 - 04:21:49 About Us Frequently Asked Questions Contact Us Order Status ... Health Resources

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

Detailed View HOME ABOUT US ORDER STATUS BMI CALCULATOR ... CONTACT US Prescription Drugs Diet Pills Adipex Bontril Didrex ... Tangier : Tangier Disease by Jackie Newman Title: Tangier Disease by Jackie Newman URL: http://www-personal.umd.umich.edu/~jcthomas/JCTHOMAS/1997%20Case%20Studies/J.%20Newman1.html Description: An article about this rare disease, its history, characteristics of the disease and the treatments. Statistics Added: Mon Sep 01 2003 Hits: Rating: 0.00 Votes: Visit this link Search Looking for something in particular? More search options Pages Updated On: Fri May 28 2004 - 04:21:49 About Us Frequently Asked Questions Contact Us Order Status ... Health Resources

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

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

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