41. Tangier Disease Is Caused By Mutations In The Gene Encoding ATP-binding Cassette tangier disease (TD) was first discovered nearly 40 years ago in two siblings Assignment of tangier disease to chromosome 9q31 by a graphical linkage http://www.nature.com/ng/journal/v22/n4/full/ng0899_352.html

@import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Letter Nature Genetics doi:10.1038/11921 Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1 Stephan Rust , Marie Rosier , Harald Funke , Zahir Amoura , Jean-Charles Piette , Jean-Francois Deleuze , H. Bryan Brewer , Nicolas Duverger Universidad Departamento de Medicina, Hospital Clinico Universitario, Avda V Blasco Ibanez 17, 46010 Valencia, Spain. National Institutes of Health, National Heart Lung and Blood Institute, Bethesda, Maryland, USA . Correspondence should be addressed to Stephan Rust Rusts@uni-muenster.de Tangier disease (TD) was first discovered nearly 40 years ago in two siblings living on Tangier Island . This autosomal co-dominant condition is characterized in the homozygous state by the absence of HDL-cholesterol (HDL-C) from plasma, hepatosplenomegaly, peripheral neuropathy and frequently premature coronary artery disease (CAD). In heterozygotes, HDL-C levels are about one-half those of normal individuals

42. Tangier Disease Is Caused By Mutations In The Gene Encoding ATP-binding Cassette tangier disease (TD) was first discovered nearly 40 years ago in two siblingsliving on Tangier Island1. This autosomal codominant condition is http://www.nature.com/ng/journal/v22/n4/abs/ng0899_352.html

@import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Letter Nature Genetics doi:10.1038/11921 Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1 Stephan Rust , Marie Rosier , Harald Funke , Zahir Amoura , Jean-Charles Piette , Jean-Francois Deleuze , H. Bryan Brewer , Nicolas Duverger Universidad Departamento de Medicina, Hospital Clinico Universitario, Avda V Blasco Ibanez 17, 46010 Valencia, Spain. National Institutes of Health, National Heart Lung and Blood Institute, Bethesda, Maryland, USA . Correspondence should be addressed to Stephan Rust Rusts@uni-muenster.de Tangier disease (TD) was first discovered nearly 40 years ago in two siblings living on Tangier Island . This autosomal co-dominant condition is characterized in the homozygous state by the absence of HDL-cholesterol (HDL-C) from plasma, hepatosplenomegaly, peripheral neuropathy and frequently premature coronary artery disease (CAD). In heterozygotes, HDL-C levels are about one-half those of normal individuals

43. PreAnesthetic Assessment Of The Patient With Tangier Disease Online Continuing Medical Education for the Anesthesiology practice; Mount SinaiSchool of Medicine CME focusing on the practice of Anesthesiology. http://mssm.procampus.net/course_desc_Mar05.htm

Lesson 239: PreAnesthetic Assessment of the Patient with Tangier Disease Course Authors: Alan Kaye, MD, PhD Professor and Chairman, Department of Anesthesiology, LSU Health Sciences Center, New Orleans, Louisiana Hesham Attaya Medical student, Texas Tech University Health Sciences Center School of Medicine, Lubbock, Texas Omar Saleh Medical student, University of Mississippi Medical Center, Jackson, Mississippi Amir Baluch Medical student, Texas Tech University Health Sciences Center School of Medicine, Lubbock, Texas Kush Agrawal Medical student, University of Mississippi Medical Center, Jackson, Mississippi Registration Fee: $15.00 2.0 Category 1 CME Credits available until March 31st, 2006 Please be sure to read registration information below. Reviewed by: Elizabeth A. M. Frost, MD Clinical Professor of Anesthesiology, Mount Sinai Medical Center, New York, NY Dr. Elizabeth A.M. Frost, who is the editor of this continuing medical education series, is Clinical Professor of Anesthesiology at Mount Sinai School of Medicine in New York City. She is the author of Clinical Anesthesia in Neurosurgery (Butterworth-Heinemann, Boston) and numerous articles. Dr. Frost is also past president of the Anesthesia History Association and former editor of the journal of the New York State Society of Anesthesiologists, Sphere. She is also editor of the book series based on this CME program, Preanesthetic Assessment, Volumes 1 through 3 (Birkhäuser, Boston) and 4 through 6 (McMahon Publishing, New York City).

44. The Liver May Produce Most Of The Body's Good Cholesterol People with tangier disease have mutations in a gene (ABCA1) involved in theproduction of HDL. Like all genes, ABCA1 exerts its effects through a protein http://www.news-medical.net/?id=9117

45. ABCA1 - ATP-binding Cassette, Sub-family A, Member 1 Other ABCA transporters, including ABC1 linked to tangier disease, They includethe tangier disease protein ABC1, sulfonylurea receptors ( SUR), http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/86162.html

Apolipoprotein A-I activates cellular cAMP signaling through the transporter. Abstract-10210315 In these cells, expression of PPAR-gamma 5 but not -gamma 4 repressed the expression of Abstract-9482004 These results may suggest that regulates actin organization through the possible interaction with Abstract-8856498 Molecular and cellular physiology of apolipoprotein A-I lipidation by the ATP- binding cassette transporter A1 ( Abstract-10210172 ApoA-I and apoE stabilize in a novel mode of regulation by decreasing PEST sequence-mediated calpain proteolysis. Abstract-9909257 Recently, it was shown that PPARalpha activation promotes cholesterol efflux from macrophages via induction of the pathway. Abstract-9868789 Acute incubation of ABCA1-expressing cells with apoA-I had no effect on phosphorylation but stimulated autophosphorylation. Abstract-10210175 ApoE isoforms showed similar binding for and exhibited identical kinetics in their abilities to induce ABCA1-dependent cholesterol efflux. Abstract-10414641 Fas-associated death domain protein ( FADD ) was identified to bind to , and this interaction was confirmed by pull-down assays and co-immunoprecipitations.

46. Impaired Platelet Activation In Familial High Density Lipoprotein Deficiency ( T ABCA1 defects cause tangier disease, a disorder characterized by absence of highdensity lipoprotein and thrombocytopenia. http://www.pdg.cnb.uam.es/UniPub/iHOP/gp/10520484.html

Impaired platelet activation in familial high density lipoprotein deficiency ( Tangier disease ).ATP binding cassette transporter A1 ( ) is involved in regulation of intracellular lipid trafficking and export of cholesterol from cells to high density lipoproteins. defects cause Tangier disease , a disorder characterized by absence of high density lipoprotein and thrombocytopenia. In the present study we have demonstrated that is expressed in human platelets and that fibrinogen binding and surface expression in response to collagen and low concentrations of thrombin, but not to ADP, are defective in platelets from Tangier patients and ABCA1-deficient animals. The expression of platelet membrane receptors such as GPVI, alpha2beta1 integrin, and GPIIb/IIIa, the collagen-induced changes in phosphatidylserine and cholesterol distribution, and the collagen-induced signal transduction examined by phosphorylation of LAT and p72syk and by intracellular Ca2+ mobilization were unaltered in Tangier platelets. The electron microscopy of Tangier platelets revealed reduced numbers of dense bodies and the presence of giant granules typically encountered in platelets from Chediak-Higashi syndrome.

47. Penn State Faculty Research Expertise Database (FRED) Neuropathy, tangier disease, Neuropathy, Tangier Hereditary. tangier diseaseNeuropathies, Tangier Hereditary Neuropathies. alpha High Density Lipoprotein http://fred.hmc.psu.edu/ds/retrieve/fred/meshdescriptor/D013631

48. Liver May Be Source Of 'Good' Cholesterol Parks said research into tangier disease is a good example of how learning tangier disease is named for an island off the coast of Virginia where the http://www.sciencedaily.com/releases/2005/05/050509102211.htm

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Advertise With Us Source Wake Forest University Baptist Medical Center Date Print this page Email to friend 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. Related News Stories How HDL Keeps The Heart Healthy (May 29, 2005) full story Researchers Find Enzyme That Triggers Hardening Of The Arteries (January 21, 2003) An enzyme found only in the liver and intestines may play a crucial role in the development of hardening of the arteries or atherosclerosis, a research team from Wake Forest University Baptist ... full story (January 7, 2005) Millions of patients suffering from liver damage (cirrhosis) and failure may benefit from research by the Universities of Edinburgh and Southampton which may lead to new life-saving treatments. There ... full story Research Offers Hope Of New Treatments For Liver Damage (May 31, 2005)

49. RedNova News - Science - Tangier Disease RedNova Health Linktangier diseaseSynonyms Alpha HighDensity LipoproteinDeficienyAlphalipoproteinemiaAnalphalipoproteinemiaFamilial Alpha-Lipoprotein http://www.rednova.com/news/science/5271/tangier_disease/

ANDP("ntn"); Ads_kid=0;Ads_bid=0;Ads_xl=0;Ads_yl=0;Ads_xp='';Ads_yp='';Ads_xp1='';Ads_yp1='';Ads_opt=0;Ads_wrd='[KeyWord]';Ads_prf='';Ads_par='';Ads_cnturl='';Ads_sec=0;Ads_channels=''; Home News Video Images ... Site Map SPECIAL NEWS Return to Flight REDNOVA NEWS Space Science Technology Health ... Video News REDNOVA EXTRAS RedNova E-Mail My RedNova Join RedNova RSS Feeds ... Tell A Friend, Win $500 Ads by Google Posted on: Friday, 3 January 2003, 06:00 CST E-mail this to a friend Printable version Discuss this story in the forum Change Font Size: A A A Tangier Disease RedNova Health Link Tangier Disease Synonyms: Alpha High-Density Lipoprotein Deficieny Alphalipoproteinemia Analphalipoproteinemia Familial Alpha-Lipoprotein Deficiency Familial High-Density Lipoprotein Deficiency More science, space, and technology from RedNova Ads by Google More News in this Category E-mail this to a friend Printable version Discuss this story in the forum a d v e r t i s e m e n t QUIZ ME Should the citizens who refuse leave hurricane affected areas be forced to leave? Yes No View results RedNova.com

50. Tangier Disease - Synonyms Of Augusta, Georgia tangier disease Synonyms - University Health Care System of Augusta, Georgia. http://www.universityhealth.org/15442.cfm

About University About Augusta Business and Industry Contact UHCS ... Nutrition Search Information on diseases and health concerns, including symptoms, treatment options, and prevention. Tangier Disease Synonyms Disorder Subdivisions General Discussion Resources ... For a Complete Report Important It is possible that the main title of the report Tangier Disease is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Alpha High-Density Lipoprotein Deficieny Alphalipoproteinemia Analphalipoproteinemia Familial Alpha-Lipoprotein Deficiency Familial High-Density Lipoprotein Deficiency Disorder Subdivisions None General Discussion Tangier Disease is an inherited blood disorder involving decreased concentrations of fat compounds in the blood called high density lipoproteins. Large amounts of these compounds may accumulate in certain organs of the body causing tissue discoloration. In later stages, these accumulations may cause organ enlargement and/or blood circulation problems. Resources National Tay-Sachs and Allied Diseases Association, Inc.

51. Tangier Disease - Descipher Health tangier disease. From Descipher Health. (Redirected from HDL deficiency) Personal tools. Create an account or log in Check Lab Results Diseases Labs http://www.descipher.com/health/info/HDL_deficiency

Do you have lab results? Tangier disease From Descipher Health (Redirected from HDL deficiency Description: Table of contents showTocToggle("show","hide") 1 Synonyms 2 Cause 3 Population Distribution 4 Effects ... edit Synonyms familial alphalipoprotein deficiency, high-density lipoid deficiency, HDL deficiency edit Cause edit Population Distribution edit Effects edit Symptoms edit Signs edit Diagnostic Tests edit Differential Diagnosis edit Treatment edit Expected Outcome edit Prevention edit Medical References edit External Links Retrieved from " http://www.descipher.com/health/info/Tangier_disease Views Article Discussion Edit History Personal tools Create an account or log in Check Lab Results Diseases Labs ... Terms of Service This work is licensed under a Creative Commons License . Please email webmaster@descipher.com with any comments you may have.

52. Journal Of Pediatric Gastroenterology And Nutrition - Fulltext: Volume 27(2) Aug tangier disease is a rare familial disorder of lipid metabolism transmitted as a At 8 months of age, the diagnosis of tangier disease was confirmed by http://www.jpgn.org/pt/re/jpgn/fulltext.00005176-199808000-00022.htm

53. Dominique Verlaan - Cholesterol Efflux Cholesterol Efflux tangier disease and the Abc1 gene. tangier disease (TD) isa rare autosommaly recessive inherited Mendelian disease. http://www.biology.mcgill.ca/undergra/c524a/dom.htm

54. Tangier Disease Topic - Unified Search Environment tangier disease Topic Tree tangier disease MSH/MH/D013631 DXP/SY/NOCODE CSP/PT/18495194 MSH/PM/D013631 LIPOPROTEIN DEFICIENCY, ALPHA http://www.use.hcn.com.au/portals/shared/subject.`Tangier Disease`/home.html

Tangier Disease Topic Tree Definition: A rare autosomal recessive familial disorder of cholesterol metabolism, characterized by extremely low HDL-cholesterol, reduced total cholesterol, and increased triglyceride levels in serum. Clinical features include the onset before age 20 years of HEPATOMEGALY; SPLENOMEGALY; the deposition of cholesterol in each TONSIL (creating a yellow-orange appearance); and RETINITIS PIGMENTOSA. A sensorimotor or distal sensory POLYNEUROPATHY occurs in approximately 50% of affected individuals. The condition is associated with decreased synthesis and increased catabolism of APOLIPOPROTEIN A-I and APOLIPOPROTEIN A-II, and a defect in cellular signaling and mobilization of lipids. (From Nat Genet 1998 Sep;20(1):96-8; Adams et al., Principles of Neurology, 6th ed, pp1347-8; Menkes, Textbook of Child Neurology, 5th ed, p118) Synonyms and Source Vocabularies: Tangier Disease LIPOPROTEIN DEFICIENCY, ALPHA, HIGH-DENSITY ALPHA LIPOPROTEIN DEFICIENCY Analphalipoproteinemia Hypoalphalipoproteinemias, Familial familial high density lipoprotein deficiency Hypoalphalipoproteinemia, Familial

55. Current Opinion In Lipidology - UserLogin tangier disease is an autosomal recessive disease relatively rare in the Characteristic features of tangier disease include cholesterol deposits in http://www.co-lipidology.com/pt/re/colipidology/fulltext.00041433-200006000-0001

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56. Current Opinion In Lipidology - UserLogin tangier disease is also characterized by normal apolipoprotein AI synthesis and Abnormal apoAI isoprotein composition in patients with tangier disease. http://www.co-lipidology.com/pt/re/colipidology/fulltext.00041433-200004000-0000

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57. Frame 5 Coding Tabelle The tangier disease gene product ABC1 controls the cellular Mutations in ABC1in tangier disease and familial highdensity lipoprotein deficiency. 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

58. Haberman Associates: Functional Genomics, January 2000 The tangier disease gene product ABC1 controls the cellular apolipoproteinmediatedlipid removal pathway. Journal of Clinical Investigation 1999 Oct; 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

59. HNRCA : Cholesterol And Apolipoprotein B Metabolism In Tangier Disease Cholesterol and apolipoprotein B metabolism in tangier disease. Atherosclerosis2004;159(1)231236. Abstract, http//www.ncbi.nlm.nih.gov/entrez/ http://hnrc.tufts.edu/publications/detail.php?id=820

60. Peripheral Neuropathy In Tangier Disease -- Pollock Et Al. 106 (4): 911 -- Brain A review of tangier disease in the literature indicated the possibility of tangier diseasea diagnostic challenge in countries endemic for leprosy http://brain.oxfordjournals.org/cgi/content/abstract/106/4/911

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in ISI Web of Science Similar articles in PubMed ... Cited by other online articles Search for citing articles in: ISI Web of Science (21) Request Permissions PubMed PubMed Citation Articles by Pollock, M. Articles by Allpress, S. ARTICLES Peripheral neuropathy in Tangier disease M Pollock, H Nukada, RW Frith, JP Simcock and S Allpress Peripheral nerve morphometry was assessed in four patients with Tangier disease. Three patients with a relapsing and remitting multiple mononeuropathy had prominent peripheral nerve demyelination and remyelination with affected internodes clustered along particular nerve fibres. Putative lipid vacuoles were almost exclusively confined in this multifocal neuropathy syndrome to Remak cells. By contrast a fourth patient

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