Literature DB >> 28537273

Clinical utility gene card for: Tangier disease.

Amanda J Hooper1,2,3, Sally P A McCormick4, Robert A Hegele5, John R Burnett1,2.   

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Year:  2017        PMID： 28537273     DOI： 10.1038/ejhg.2017.72

Source DB:  PubMed          Journal:  Eur J Hum Genet        ISSN： 1018-4813            Impact factor:   4.246


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  11 in total

1.  The gene encoding ATP-binding cassette transporter 1 is mutated in Tangier disease.

Authors:  M Bodzioch; E Orsó; J Klucken; T Langmann; A Böttcher; W Diederich; W Drobnik; S Barlage; C Büchler; M Porsch-Ozcürümez; W E Kaminski; H W Hahmann; K Oette; G Rothe; C Aslanidis; K J Lackner; G Schmitz
Journal:  Nat Genet       Date:  1999-08       Impact factor: 38.330

2.  Mutations in ABC1 in Tangier disease and familial high-density lipoprotein deficiency.

Authors:  A Brooks-Wilson; M Marcil; S M Clee; L H Zhang; K Roomp; M van Dam; L Yu; C Brewer; J A Collins; H O Molhuizen; O Loubser; B F Ouelette; K Fichter; K J Ashbourne-Excoffon; C W Sensen; S Scherer; S Mott; M Denis; D Martindale; J Frohlich; K Morgan; B Koop; S Pimstone; J J Kastelein; J Genest; M R Hayden
Journal:  Nat Genet       Date:  1999-08       Impact factor: 38.330

3.  Coronary heart disease prevalence and other clinical features in familial high-density lipoprotein deficiency (Tangier disease).

Authors:  E J Schaefer; L A Zech; D E Schwartz; H B Brewer
Journal:  Ann Intern Med       Date:  1980-08       Impact factor: 25.391

4.  Tangier disease is caused by mutations in the gene encoding ATP-binding cassette transporter 1.

Authors:  S Rust; M Rosier; H Funke; J Real; Z Amoura; J C Piette; J F Deleuze; H B Brewer; N Duverger; P Denèfle; G Assmann
Journal:  Nat Genet       Date:  1999-08       Impact factor: 38.330

Review 5.  Marked HDL deficiency and premature coronary heart disease.

Authors:  Ernst J Schaefer; Raul D Santos; Bela F Asztalos
Journal:  Curr Opin Lipidol       Date:  2010-08       Impact factor: 4.776

6.  Western Database of Lipid Variants (WDLV): a catalogue of genetic variants in monogenic dyslipidemias.

Authors:  Jennifer Fu; Samantha Kwok; Leah Sinai; Omar Abdel-Razek; Janet Babula; Dennis Chen; Emma Farago; Nigel Fernandopulle; Sean Leith; Melissa Loyzer; Catherine Lu; Niyati Malkani; Nicole Morris; Mandi Schmidt; Randa Stringer; Heather Whitehead; Matthew R Ban; Joseph B Dubé; Adam McIntyre; Christopher T Johansen; Henian Cao; Jian Wang; Robert A Hegele
Journal:  Can J Cardiol       Date:  2013-04-24       Impact factor: 5.223

Review 7.  Diagnosis and treatment of high density lipoprotein deficiency.

Authors:  Ernst J Schaefer; Pimjai Anthanont; Margaret R Diffenderfer; Eliana Polisecki; Bela F Asztalos
Journal:  Prog Cardiovasc Dis       Date:  2016-08-24       Impact factor: 8.194

8.  The heart in Tangier disease. Severe coronary atherosclerosis with near absence of high-density lipoprotein cholesterol.

Authors:  S L Mautner; J A Sanchez; D J Rader; G C Mautner; V J Ferrans; D S Fredrickson; H B Brewer; W C Roberts
Journal:  Am J Clin Pathol       Date:  1992-08       Impact factor: 2.493

Review 9.  Approach to the patient with extremely low HDL-cholesterol.

Authors:  Daniel J Rader; Emil M deGoma
Journal:  J Clin Endocrinol Metab       Date:  2012-10       Impact factor: 5.958

10.  Naturally occurring mutations in the largest extracellular loops of ABCA1 can disrupt its direct interaction with apolipoprotein A-I.

Authors:  Michael L Fitzgerald; Andrea L Morris; Jeongmi S Rhee; Lorna P Andersson; Armando J Mendez; Mason W Freeman
Journal:  J Biol Chem       Date:  2002-06-25       Impact factor: 5.157
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  1 in total

Review 1.  Current Diagnosis and Management of Tangier Disease.

Authors:  Masahiro Koseki; Shizuya Yamashita; Masatsune Ogura; Yasushi Ishigaki; Koh Ono; Kazuhisa Tsukamoto; Mika Hori; Kota Matsuki; Shinji Yokoyama; Mariko Harada-Shiba
Journal:  J Atheroscler Thromb       Date:  2021-05-14       Impact factor: 4.928
  1 in total

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