Literature DB >> 28029149

Clinical utility gene card for: Sitosterolaemia.

Amanda J Hooper1,2,3, Damon A Bell1,2, Robert A Hegele4, John R Burnett1,2.   

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Year:  2016        PMID： 28029149      PMCID： PMC5386411          DOI： 10.1038/ejhg.2016.187

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


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  21 in total

1.  Accumulation of dietary cholesterol in sitosterolemia caused by mutations in adjacent ABC transporters.

Authors:  K E Berge; H Tian; G A Graf; L Yu; N V Grishin; J Schultz; P Kwiterovich; B Shan; R Barnes; H H Hobbs
Journal:  Science       Date:  2000-12-01       Impact factor: 47.728

2.  Image in cardiovascular medicine. Aortic xanthomatosis with coronary ostial occlusion in a child homozygous for a nonsense mutation in ABCG8.

Authors:  David Mymin; Jian Wang; Jiri Frohlich; Robert A Hegele
Journal:  Circulation       Date:  2003-02-11       Impact factor: 29.690

3.  A 19-year-old man with myocardial infarction and sitosterolemia.

Authors:  Takaharu Katayama; Shingo Katayama; Toru Satoh; Takashi Yagi; Nobuyoshi Hirose; Yasuo Kurita; Toshihisa Anzai; Yasushi Asakura; Tsutomu Yoshikawa; Hideo Mitamura; Satoshi Ogawa
Journal:  Intern Med       Date:  2003-07       Impact factor: 1.271

4.  Severe hypercholesterolemia and phytosterolemia with extensive xanthomas in primary biliary cirrhosis: role of biliary excretion on sterol homeostasis.

Authors:  Lucia Baila-Rueda; Rocio Mateo-Gallego; Itziar Lamiquiz-Moneo; Ana Cenarro; Fernando Civeira
Journal:  J Clin Lipidol       Date:  2014-05-23       Impact factor: 4.766

5.  Identification of a gene, ABCG5, important in the regulation of dietary cholesterol absorption.

Authors:  M H Lee; K Lu; S Hazard; H Yu; S Shulenin; H Hidaka; H Kojima; R Allikmets; N Sakuma; R Pegoraro; A K Srivastava; G Salen; M Dean; S B Patel
Journal:  Nat Genet       Date:  2001-01       Impact factor: 38.330

6.  Two genes that map to the STSL locus cause sitosterolemia: genomic structure and spectrum of mutations involving sterolin-1 and sterolin-2, encoded by ABCG5 and ABCG8, respectively.

Authors:  K Lu; M H Lee; S Hazard; A Brooks-Wilson; H Hidaka; H Kojima; L Ose; A F Stalenhoef; T Mietinnen; I Bjorkhem; E Bruckert; A Pandya; H B Brewer ; G Salen; M Dean; A Srivastava; S B Patel
Journal:  Am J Hum Genet       Date:  2001-07-09       Impact factor: 11.025

Review 7.  Sitosterolemia.

Authors:  G Salen; S Shefer; L Nguyen; G C Ness; G S Tint; V Shore
Journal:  J Lipid Res       Date:  1992-07       Impact factor: 5.922

8.  Specific macrothrombocytopenia/hemolytic anemia associated with sitosterolemia.

Authors:  Zhaoyue Wang; Lijuan Cao; Yanhua Su; Gaifeng Wang; Ruijuan Wang; Ziqiang Yu; Xia Bai; Changgeng Ruan
Journal:  Am J Hematol       Date:  2014-03       Impact factor: 10.047

9.  Stomatocytic haemolysis and macrothrombocytopenia (Mediterranean stomatocytosis/macrothrombocytopenia) is the haematological presentation of phytosterolaemia.

Authors:  David C Rees; Achille Iolascon; Massimo Carella; Aengus S O'marcaigh; James R Kendra; Simon N Jowitt; J K Wales; Ajay Vora; M Makris; Nigel Manning; Anna Nicolaou; Julie Fisher; Anuska Mann; Samuel J Machin; Peter T Clayton; Paolo Gasparini; Gordon W Stewart
Journal:  Br J Haematol       Date:  2005-07       Impact factor: 6.998

10.  Identification by whole-genome resequencing of gene defect responsible for severe hypercholesterolemia.

Authors:  Jonathan Rios; Evan Stein; Jay Shendure; Helen H Hobbs; Jonathan C Cohen
Journal:  Hum Mol Genet       Date:  2010-08-18       Impact factor: 6.150
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