Literature DB >> 24574004

A man with low cholesterol and weakness of the lower limbs.

Tiziano Lucchi1, Sebastiano Calandra, Claudio Rabacchi, Giancarlo Conti, Gianluca Ardolino, Lara Assolari, Beatrice Arosio, Carlo Vergani.   

Abstract

Entities:  

Mesh：

Year:  2014        PMID： 24574004     DOI： 10.1007/s11739-014-1059-6

Source DB:  PubMed          Journal:  Intern Emerg Med        ISSN： 1828-0447            Impact factor:   3.397


× No keyword cloud information.
  17 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.  Association of loss-of-function mutations in the ABCA1 gene with high-density lipoprotein cholesterol levels and risk of ischemic heart disease.

Authors:  Ruth Frikke-Schmidt; Børge G Nordestgaard; Maria C A Stene; Amar A Sethi; Alan T Remaley; Peter Schnohr; Peer Grande; Anne Tybjaerg-Hansen
Journal:  JAMA       Date:  2008-06-04       Impact factor: 56.272

Review 4.  Genetic variation in the ABCA1 gene, HDL cholesterol, and risk of ischemic heart disease in the general population.

Authors:  Ruth Frikke-Schmidt
Journal:  Atherosclerosis       Date:  2009-06-11       Impact factor: 5.162

5.  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

6.  Complete genomic sequence of the human ABCA1 gene: analysis of the human and mouse ATP-binding cassette A promoter.

Authors:  S Santamarina-Fojo; K Peterson; C Knapper; Y Qiu; L Freeman; J F Cheng; J Osorio; A Remaley; X P Yang; C Haudenschild; C Prades; G Chimini; E Blackmon; T Francois; N Duverger; E M Rubin; M Rosier; P Denèfle; D S Fredrickson; H B Brewer
Journal:  Proc Natl Acad Sci U S A       Date:  2000-07-05       Impact factor: 11.205

Review 7.  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

8.  Severe HDL deficiency due to novel defects in the ABCA1 transporter.

Authors:  L Pisciotta; L Bocchi; C Candini; R Sallo; I Zanotti; T Fasano; A Chakrapani; T Bates; R Bonardi; A Cantafora; S Ball; G Watts; F Bernini; S Calandra; S Bertolini
Journal:  J Intern Med       Date:  2008-10-25       Impact factor: 8.989

9.  Novel mutations of ABCA1 transporter in patients with Tangier disease and familial HDL deficiency.

Authors:  Tommaso Fasano; Paolo Zanoni; Claudio Rabacchi; Livia Pisciotta; Elda Favari; Maria Pia Adorni; Patrick B Deegan; Adrian Park; Thinn Hlaing; Michael D Feher; Ben Jones; Asli Subasioglu Uzak; Fatih Kardas; Andrea Dardis; Annalisa Sechi; Bruno Bembi; Pietro Minuz; Stefano Bertolini; Franco Bernini; Sebastiano Calandra
Journal:  Mol Genet Metab       Date:  2012-08-18       Impact factor: 4.797

10.  ABCA1 mutation carriers with low high-density lipoprotein cholesterol are characterized by a larger atherosclerotic burden.

Authors:  Andrea E Bochem; Diederik F van Wijk; Adriaan G Holleboom; Raphaël Duivenvoorden; Mahdi M Motazacker; Geesje M Dallinga-Thie; Eric de Groot; John J P Kastelein; Aart J Nederveen; G Kees Hovingh; Erik S G Stroes
Journal:  Eur Heart J       Date:  2012-11-07       Impact factor: 29.983
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.