Literature DB >> 25335495

Clinical utility gene card for: Familial hypobetalipoproteinaemia (APOB)--Update 2014.

John R Burnett1, Damon A Bell1, Amanda J Hooper2, Robert A Hegele3.   

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Year:  2014        PMID： 25335495      PMCID： PMC4795065          DOI： 10.1038/ejhg.2014.225

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


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  11 in total

1.  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 2.  Hypobetalipoproteinemia and abetalipoproteinemia.

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

3.  Homozygous MTTP and APOB mutations may lead to hepatic steatosis and fibrosis despite metabolic differences in congenital hypocholesterolemia.

Authors:  Mathilde Di Filippo; Philippe Moulin; Pascal Roy; Marie Elisabeth Samson-Bouma; Sophie Collardeau-Frachon; Sabrina Chebel-Dumont; Noël Peretti; Jérôme Dumortier; Fabien Zoulim; Thierry Fontanges; Rossella Parini; Miriam Rigoldi; Francesca Furlan; Grazia Mancini; Dominique Bonnefont-Rousselot; Eric Bruckert; Jacques Schmitz; Jean Yves Scoazec; Sybil Charrière; Sylvie Villar-Fimbel; Frederic Gottrand; Béatrice Dubern; Diane Doummar; Francesca Joly; Marie Elisabeth Liard-Meillon; Alain Lachaux; Agnès Sassolas
Journal:  J Hepatol       Date:  2014-05-16       Impact factor: 25.083

Review 4.  Update on primary hypobetalipoproteinemia.

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

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

Review 7.  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

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
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  3 in total

1.  Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipoproteinemia.

Authors:  Masa-Aki Kawashiri; Hayato Tada; Marowa Hashimoto; Matsuo Taniyama; Takamitsu Nakano; Katsuyuki Nakajima; Takeshi Inoue; Mika Mori; Chiaki Nakanishi; Tetsuo Konno; Kenshi Hayashi; Atsushi Nohara; Akihiro Inazu; Junji Koizumi; Hirotaka Ishihara; Junji Kobayashi; Tsutomu Hirano; Hiroshi Mabuchi; Masakazu Yamagishi
Journal:  JIMD Rep       Date:  2015-03-13

2.  Prevalence of hypobetalipoproteinemia and related psychiatric characteristics in a psychiatric population: results from the retrospective HYPOPSY Study.

Authors:  Bertrand Cariou; Gaëlle Challet-Bouju; Céline Bernard; Marie Marrec; Jean-Benoit Hardouin; Charlotte Authier; Kalyane Bach-Ngohou; Christophe Leux; Matthieu Pichelin; Marie Grall-Bronnec
Journal:  Lipids Health Dis       Date:  2018-11-06       Impact factor: 3.876

Review 3.  Current Diagnosis and Management of Abetalipoproteinemia.

Authors:  Manabu Takahashi; Hiroaki Okazaki; Ken Ohashi; Masatsune Ogura; Shun Ishibashi; Sachiko Okazaki; Satoshi Hirayama; Mika Hori; Kota Matsuki; Shinji Yokoyama; Mariko Harada-Shiba
Journal:  J Atheroscler Thromb       Date:  2021-05-16       Impact factor: 4.928
  3 in total

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