Literature DB >> 20231733

A new Thematic Series: genetics of human lipid diseases.

Carol C Shoulders.   

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Year:  2010        PMID: 20231733      PMCID: PMC2882749          DOI: 10.1194/jlr.E006833

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


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  19 in total

1.  The gene encoding adipose triglyceride lipase (PNPLA2) is mutated in neutral lipid storage disease with myopathy.

Authors:  Judith Fischer; Caroline Lefèvre; Eva Morava; Jean-Marie Mussini; Pascal Laforêt; Anne Negre-Salvayre; Mark Lathrop; Robert Salvayre
Journal:  Nat Genet       Date:  2006-12-24       Impact factor: 38.330

2.  Mutational spectrum of D-bifunctional protein deficiency and structure-based genotype-phenotype analysis.

Authors:  Sacha Ferdinandusse; Mari S Ylianttila; Jolein Gloerich; M Kristian Koski; Wendy Oostheim; Hans R Waterham; J Kalervo Hiltunen; Ronald J A Wanders; Tuomo Glumoff
Journal:  Am J Hum Genet       Date:  2005-11-15       Impact factor: 11.025

3.  Cell-specific deletion of glucosylceramide synthase in brain leads to severe neural defects after birth.

Authors:  Richard Jennemann; Roger Sandhoff; Shijun Wang; Eva Kiss; Norbert Gretz; Cecilia Zuliani; Ana Martin-Villalba; Richard Jäger; Hubert Schorle; Marc Kenzelmann; Mahnaz Bonrouhi; Herbert Wiegandt; Hermann-Josef Gröne
Journal:  Proc Natl Acad Sci U S A       Date:  2005-08-18       Impact factor: 11.205

4.  Variant between CPT1B and CHKB associated with susceptibility to narcolepsy.

Authors:  Taku Miyagawa; Minae Kawashima; Nao Nishida; Jun Ohashi; Ryosuke Kimura; Akihiro Fujimoto; Mihoko Shimada; Shinichi Morishita; Takashi Shigeta; Ling Lin; Seung-Chul Hong; Juliette Faraco; Yoon-Kyung Shin; Jong-Hyun Jeong; Yuji Okazaki; Shoji Tsuji; Makoto Honda; Yutaka Honda; Emmanuel Mignot; Katsushi Tokunaga
Journal:  Nat Genet       Date:  2008-09-28       Impact factor: 38.330

5.  Sequence alterations within CYP7B1 implicate defective cholesterol homeostasis in motor-neuron degeneration.

Authors:  Maria K Tsaousidou; Karim Ouahchi; Tom T Warner; Yi Yang; Michael A Simpson; Nigel G Laing; Philip A Wilkinson; Ricardo E Madrid; Heema Patel; Faycal Hentati; Michael A Patton; Afif Hentati; Philippa J Lamont; Teepu Siddique; Andrew H Crosby
Journal:  Am J Hum Genet       Date:  2008-01-18       Impact factor: 11.025

6.  Genome-wide scan identifies variation in MLXIPL associated with plasma triglycerides.

Authors:  Jaspal S Kooner; John C Chambers; Carlos A Aguilar-Salinas; David A Hinds; Craig L Hyde; Gregory R Warnes; Francisco J Gómez Pérez; Kelly A Frazer; Paul Elliott; James Scott; Patrice M Milos; David R Cox; John F Thompson
Journal:  Nat Genet       Date:  2008-01-13       Impact factor: 38.330

7.  Genome-wide association study identifies genes for biomarkers of cardiovascular disease: serum urate and dyslipidemia.

Authors:  Chris Wallace; Stephen J Newhouse; Peter Braund; Feng Zhang; Martin Tobin; Mario Falchi; Kourosh Ahmadi; Richard J Dobson; Ana Carolina B Marçano; Cother Hajat; Paul Burton; Panagiotis Deloukas; Morris Brown; John M Connell; Anna Dominiczak; G Mark Lathrop; John Webster; Martin Farrall; Tim Spector; Nilesh J Samani; Mark J Caulfield; Patricia B Munroe
Journal:  Am J Hum Genet       Date:  2008-01       Impact factor: 11.025

8.  Genetic variation in PNPLA3 confers susceptibility to nonalcoholic fatty liver disease.

Authors:  Stefano Romeo; Julia Kozlitina; Chao Xing; Alexander Pertsemlidis; David Cox; Len A Pennacchio; Eric Boerwinkle; Jonathan C Cohen; Helen H Hobbs
Journal:  Nat Genet       Date:  2008-09-25       Impact factor: 38.330

9.  Common variants at 30 loci contribute to polygenic dyslipidemia.

Authors:  Sekar Kathiresan; Cristen J Willer; Gina M Peloso; Serkalem Demissie; Kiran Musunuru; Eric E Schadt; Lee Kaplan; Derrick Bennett; Yun Li; Toshiko Tanaka; Benjamin F Voight; Lori L Bonnycastle; Anne U Jackson; Gabriel Crawford; Aarti Surti; Candace Guiducci; Noel P Burtt; Sarah Parish; Robert Clarke; Diana Zelenika; Kari A Kubalanza; Mario A Morken; Laura J Scott; Heather M Stringham; Pilar Galan; Amy J Swift; Johanna Kuusisto; Richard N Bergman; Jouko Sundvall; Markku Laakso; Luigi Ferrucci; Paul Scheet; Serena Sanna; Manuela Uda; Qiong Yang; Kathryn L Lunetta; Josée Dupuis; Paul I W de Bakker; Christopher J O'Donnell; John C Chambers; Jaspal S Kooner; Serge Hercberg; Pierre Meneton; Edward G Lakatta; Angelo Scuteri; David Schlessinger; Jaakko Tuomilehto; Francis S Collins; Leif Groop; David Altshuler; Rory Collins; G Mark Lathrop; Olle Melander; Veikko Salomaa; Leena Peltonen; Marju Orho-Melander; Jose M Ordovas; Michael Boehnke; Gonçalo R Abecasis; Karen L Mohlke; L Adrienne Cupples
Journal:  Nat Genet       Date:  2008-12-07       Impact factor: 38.330

10.  Loci influencing lipid levels and coronary heart disease risk in 16 European population cohorts.

Authors:  Yurii S Aulchenko; Samuli Ripatti; Ida Lindqvist; Dorret Boomsma; Iris M Heid; Peter P Pramstaller; Brenda W J H Penninx; A Cecile J W Janssens; James F Wilson; Tim Spector; Nicholas G Martin; Nancy L Pedersen; Kirsten Ohm Kyvik; Jaakko Kaprio; Albert Hofman; Nelson B Freimer; Marjo-Riitta Jarvelin; Ulf Gyllensten; Harry Campbell; Igor Rudan; Asa Johansson; Fabio Marroni; Caroline Hayward; Veronique Vitart; Inger Jonasson; Cristian Pattaro; Alan Wright; Nick Hastie; Irene Pichler; Andrew A Hicks; Mario Falchi; Gonneke Willemsen; Jouke-Jan Hottenga; Eco J C de Geus; Grant W Montgomery; John Whitfield; Patrik Magnusson; Juha Saharinen; Markus Perola; Kaisa Silander; Aaron Isaacs; Eric J G Sijbrands; Andre G Uitterlinden; Jacqueline C M Witteman; Ben A Oostra; Paul Elliott; Aimo Ruokonen; Chiara Sabatti; Christian Gieger; Thomas Meitinger; Florian Kronenberg; Angela Döring; H-Erich Wichmann; Johannes H Smit; Mark I McCarthy; Cornelia M van Duijn; Leena Peltonen
Journal:  Nat Genet       Date:  2008-12-07       Impact factor: 38.330

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