Literature DB >> 22588666

Clinical utility gene card for: Familial Hypobetalipoproteinaemia (APOB).

John R Burnett1, Damon A Bell, Amanda J Hooper, Robert A Hegele.   

Abstract

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Year:  2012        PMID： 22588666      PMCID： PMC3400740          DOI： 10.1038/ejhg.2012.85

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


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  10 in total

Review 1.  Monogenic hypocholesterolaemic lipid disorders and apolipoprotein B metabolism.

Authors:  Amanda J Hooper; Frank M van Bockxmeer; John R Burnett
Journal:  Crit Rev Clin Lab Sci       Date:  2005       Impact factor: 6.250

2.  Assessment of tocopherol metabolism and oxidative stress in familial hypobetalipoproteinemia.

Authors:  Michael W Clarke; Amanda J Hooper; Henrietta A Headlam; Jason H Y Wu; Kevin D Croft; John R Burnett
Journal:  Clin Chem       Date:  2006-05-25       Impact factor: 8.327

Review 3.  Familial heterozygous hypobetalipoproteinemia, extrahepatic primary malignancy, and hepatocellular carcinoma.

Authors:  A Lonardo; P Tarugi; G Ballarini; A Bagni
Journal:  Dig Dis Sci       Date:  1998-11       Impact factor: 3.199

Review 4.  Hypobetalipoproteinemia: genetics, biochemistry, and clinical spectrum.

Authors:  Patrizia Tarugi; Maurizio Averna
Journal:  Adv Clin Chem       Date:  2011       Impact factor: 5.394

Review 5.  Genetic determinants of hepatic steatosis in man.

Authors:  Amanda J Hooper; Leon A Adams; John R Burnett
Journal:  J Lipid Res       Date:  2011-01-18       Impact factor: 5.922

6.  Long-term assessment of combined vitamin A and E treatment for the prevention of retinal degeneration in abetalipoproteinaemia and hypobetalipoproteinaemia patients.

Authors:  I Chowers; E Banin; S Merin; M Cooper; E Granot
Journal:  Eye (Lond)       Date:  2001-08       Impact factor: 3.775

7.  Fatty liver in familial hypobetalipoproteinemia: triglyceride assembly into VLDL particles is affected by the extent of hepatic steatosis.

Authors:  Gustav Schonfeld; Bruce W Patterson; Dmitriy A Yablonskiy; Tariq S K Tanoli; Maurizio Averna; Nizar Elias; Pin Yue; Joseph Ackerman
Journal:  J Lipid Res       Date:  2002-12-01       Impact factor: 5.922

8.  Missense mutations in APOB within the betaalpha1 domain of human APOB-100 result in impaired secretion of ApoB and ApoB-containing lipoproteins in familial hypobetalipoproteinemia.

Authors:  John R Burnett; Shumei Zhong; Zhenghui G Jiang; Amanda J Hooper; Eric A Fisher; Roger S McLeod; Yang Zhao; P Hugh R Barrett; Robert A Hegele; Frank M van Bockxmeer; Hongyu Zhang; Dennis E Vance; C James McKnight; Zemin Yao
Journal:  J Biol Chem       Date:  2007-06-22       Impact factor: 5.157

9.  Frequency of ApoB and ApoE gene mutations as causes of hypobetalipoproteinemia in the framingham offspring population.

Authors:  F K Welty; C Lahoz; K L Tucker; J M Ordovas; P W Wilson; E J Schaefer
Journal:  Arterioscler Thromb Vasc Biol       Date:  1998-11       Impact factor: 8.311

10.  A study of fatty liver disease and plasma lipoproteins in a kindred with familial hypobetalipoproteinemia due to a novel truncated form of apolipoprotein B (APO B-54.5).

Authors:  P Tarugi; A Lonardo; G Ballarini; L Erspamer; E Tondelli; S Bertolini; S Calandra
Journal:  J Hepatol       Date:  2000-09       Impact factor: 25.083
  10 in total
  3 in total

Review 1.  Hypobetalipoproteinemia and abetalipoproteinemia.

Authors:  Francine K Welty
Journal:  Curr Opin Lipidol       Date:  2014-06       Impact factor: 4.776

Review 2.  Update on primary hypobetalipoproteinemia.

Authors:  Amanda J Hooper; John R Burnett
Journal:  Curr Atheroscler Rep       Date:  2014-07       Impact factor: 5.113

Review 3.  Abetalipoproteinemia and homozygous hypobetalipoproteinemia: a framework for diagnosis and management.

Authors:  Jooho Lee; Robert A Hegele
Journal:  J Inherit Metab Dis       Date:  2013-11-28       Impact factor: 4.982
  3 in total

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