Literature DB >> 19023136

New technologies for delineating and characterizing the lipid exome: prospects for understanding familial combined hyperlipidemia.

Stuart D Horswell1, Helen E Ringham, Carol C Shoulders.   

Abstract

This review summarizes the progress made in cutting through the biological and genetic complexity of the Gordian knot that is familial combined hyperlipidemia. We particularly focus on how the application of new genomic technologies, especially massively parallel sequencing and high-throughput genotyping platforms, promise to accelerate the gene discovery process in this common, highly atherogenic disorder, with important diagnostic and therapeutic implications.

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Year:  2008        PMID： 19023136      PMCID： PMC2674706          DOI： 10.1194/jlr.R800081-JLR200

Source DB:  PubMed          Journal:  J Lipid Res        ISSN： 0022-2275            Impact factor:   5.922


  49 in total

Review 1.  Where does fetal and embryonic cholesterol originate and what does it do?

Authors:  Laura A Woollett
Journal:  Annu Rev Nutr       Date:  2008       Impact factor: 11.848

2.  The development and impact of 454 sequencing.

Authors:  Jonathan M Rothberg; John H Leamon
Journal:  Nat Biotechnol       Date:  2008-10       Impact factor: 54.908

3.  Effect of aging and obesity on the expression of dyslipidaemia in children from families with familial combined hyperlipidaemia.

Authors:  Ewoud ter Avest; Allan D Sniderman; Sebastian J H Bredie; Albert Wiegman; Anton F H Stalenhoef; Jacqueline de Graaf
Journal:  Clin Sci (Lond)       Date:  2007-01       Impact factor: 6.124

Review 4.  Role of the cholesterol biosynthetic pathway in osteoblastic differentiation.

Authors:  G Viccica; E Vignali; C Marcocci
Journal:  J Endocrinol Invest       Date:  2007       Impact factor: 4.256

5.  Strong association of de novo copy number mutations with autism.

Authors:  Jonathan Sebat; B Lakshmi; Dheeraj Malhotra; Jennifer Troge; Christa Lese-Martin; Tom Walsh; Boris Yamrom; Seungtai Yoon; Alex Krasnitz; Jude Kendall; Anthony Leotta; Deepa Pai; Ray Zhang; Yoon-Ha Lee; James Hicks; Sarah J Spence; Annette T Lee; Kaija Puura; Terho Lehtimäki; David Ledbetter; Peter K Gregersen; Joel Bregman; James S Sutcliffe; Vaidehi Jobanputra; Wendy Chung; Dorothy Warburton; Mary-Claire King; David Skuse; Daniel H Geschwind; T Conrad Gilliam; Kenny Ye; Michael Wigler
Journal:  Science       Date:  2007-03-15       Impact factor: 47.728

Review 6.  Microsomal triglyceride transfer protein in plasma and cellular lipid metabolism.

Authors:  M Mahmood Hussain; Paul Rava; Xiaoyue Pan; Kezhi Dai; Stephanie K Dougan; Jahangir Iqbal; Farrah Lazare; Irani Khatun
Journal:  Curr Opin Lipidol       Date:  2008-06       Impact factor: 4.776

7.  A robust statistical method for case-control association testing with copy number variation.

Authors:  Chris Barnes; Vincent Plagnol; Tomas Fitzgerald; Richard Redon; Jonathan Marchini; David Clayton; Matthew E Hurles
Journal:  Nat Genet       Date:  2008-09-07       Impact factor: 38.330

8.  Frequency of low-density lipoprotein receptor gene mutations in patients with a clinical diagnosis of familial combined hyperlipidemia in a clinical setting.

Authors:  Fernando Civeira; Estibaliz Jarauta; Ana Cenarro; Angel L García-Otín; Diego Tejedor; Daniel Zambón; Miguel Mallen; Emilio Ros; Miguel Pocoví
Journal:  J Am Coll Cardiol       Date:  2008-11-04       Impact factor: 24.094

9.  Psoriasis is associated with increased beta-defensin genomic copy number.

Authors:  Edward J Hollox; Ulrike Huffmeier; Patrick L J M Zeeuwen; Raquel Palla; Jesús Lascorz; Diana Rodijk-Olthuis; Peter C M van de Kerkhof; Heiko Traupe; Gys de Jongh; Martin den Heijer; André Reis; John A L Armour; Joost Schalkwijk
Journal:  Nat Genet       Date:  2007-12-02       Impact factor: 38.330

10.  Pioglitazone added to conventional lipid-lowering treatment in familial combined hyperlipidaemia improves parameters of metabolic control: relation to liver, muscle and regional body fat content.

Authors:  E Louise Thomas; Elizabeth Potter; Isabella Tosi; Julie Fitzpatrick; Gavin Hamilton; Vian Amber; Robert Hughes; Christopher North; Paul Holvoet; Mary Seed; D John Betteridge; Jimmy D Bell; Rossi P Naoumova
Journal:  Atherosclerosis       Date:  2007-05-07       Impact factor: 5.162
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  3 in total

Review 1.  The genetics of familial combined hyperlipidaemia.

Authors:  Martijn C G J Brouwers; Marleen M J van Greevenbroek; Coen D A Stehouwer; Jacqueline de Graaf; Anton F H Stalenhoef
Journal:  Nat Rev Endocrinol       Date:  2012-02-14       Impact factor: 43.330

2.  Common Variants in 6 Lipid-Related Genes Discovered by High-Resolution DNA Melting Analysis and Their Association with Plasma Lipids.

Authors:  John F Carlquist; Jason T McKinney; Benjamin D Horne; Nicola J Camp; Lisa Cannon-Albright; Joseph B Muhlestein; Paul Hopkins; Jessica L Clarke; Chrissa P Mower; James J Park; Zachary P Nicholas; John A Huntinghouse; Jeffrey L Anderson
Journal:  J Clin Exp Cardiolog       Date:  2011-07-10

3.  CDKN2B expression in adipose tissue of familial combined hyperlipidemia patients.

Authors:  Stuart D Horswell; Lee G D Fryer; Claire E Hutchison; Dlear Zindrou; Helen E Speedy; Margaret-M Town; Emma J Duncan; Rasheeta Sivapackianathan; Hetal N Patel; Emma L Jones; Adam Braithwaite; Max P A Salm; Claire K Y Neuwirth; Elizabeth Potter; Jonathan R Anderson; Kenneth M Taylor; Mary Seed; D John Betteridge; Martin A Crook; Anthony S Wierzbicki; James Scott; Rossi P Naoumova; Carol C Shoulders
Journal:  J Lipid Res       Date:  2013-10-08       Impact factor: 5.922
  3 in total

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