Literature DB >> 24113795

Sitosterolemia: platelets on high-sterol diet.

Hervé Falet1.   

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Year:  2013        PMID： 24113795      PMCID： PMC3795455          DOI： 10.1182/blood-2013-08-521153

Source DB:  PubMed          Journal:  Blood        ISSN： 0006-4971            Impact factor:   22.113


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  10 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.  Generation and rescue of a murine model of platelet dysfunction: the Bernard-Soulier syndrome.

Authors:  J Ware; S Russell; Z M Ruggeri
Journal:  Proc Natl Acad Sci U S A       Date:  2000-03-14       Impact factor: 11.205

3.  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

Review 4.  Genetic basis of sitosterolemia.

Authors:  M H Lee; K Lu; S B Patel
Journal:  Curr Opin Lipidol       Date:  2001-04       Impact factor: 4.776

5.  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

6.  Plant sterols cause macrothrombocytopenia in a mouse model of sitosterolemia.

Authors:  Janine K Kruit; A Lyndsay Drayer; Vincent W Bloks; Nel Blom; Sandra G Olthof; Pieter J J Sauer; Gerald de Haan; Ido P Kema; Edo Vellenga; Folkert Kuipers
Journal:  J Biol Chem       Date:  2007-12-21       Impact factor: 5.157

7.  A novel interaction between FlnA and Syk regulates platelet ITAM-mediated receptor signaling and function.

Authors:  Hervé Falet; Alice Y Pollitt; Antonija Jurak Begonja; Sarah E Weber; Daniel Duerschmied; Denisa D Wagner; Steve P Watson; John H Hartwig
Journal:  J Exp Med       Date:  2010-08-16       Impact factor: 14.307

8.  The mouse mutation "thrombocytopenia and cardiomyopathy" (trac) disrupts Abcg5: a spontaneous single gene model for human hereditary phytosterolemia/sitosterolemia.

Authors:  Thomas H Chase; Bonnie L Lyons; Roderick T Bronson; Oded Foreman; Leah Rae Donahue; Lisa M Burzenski; Bruce Gott; Priscilla Lane; Belinda Harris; Uta Ceglarek; Joachim Thiery; Henning Wittenburg; Jonathan N Thon; Joseph E Italiano; Kenneth R Johnson; Leonard D Shultz
Journal:  Blood       Date:  2009-10-21       Impact factor: 22.113

9.  Platelet hyperreactivity explains the bleeding abnormality and macrothrombocytopenia in a murine model of sitosterolemia.

Authors:  Taisuke Kanaji; Sachiko Kanaji; Robert R Montgomery; Shailendra B Patel; Peter J Newman
Journal:  Blood       Date:  2013-08-07       Impact factor: 22.113

10.  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 in total

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