Literature DB >> 23579660

Genetics: a gene of rare effect.

Stephen S Hall.   

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Year:  2013        PMID: 23579660     DOI: 10.1038/496152a

Source DB:  PubMed          Journal:  Nature        ISSN: 0028-0836            Impact factor:   49.962


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  14 in total

1.  Sequence variations in PCSK9, low LDL, and protection against coronary heart disease.

Authors:  Jonathan C Cohen; Eric Boerwinkle; Thomas H Mosley; Helen H Hobbs
Journal:  N Engl J Med       Date:  2006-03-23       Impact factor: 91.245

2.  Implication of the proprotein convertase NARC-1/PCSK9 in the development of the nervous system.

Authors:  Steve Poirier; Annik Prat; Edwige Marcinkiewicz; Joanne Paquin; Babykumari P Chitramuthu; David Baranowski; Benoit Cadieux; Hugh P J Bennett; Nabil G Seidah
Journal:  J Neurochem       Date:  2006-08       Impact factor: 5.372

3.  Efficacy, safety, and tolerability of a monoclonal antibody to proprotein convertase subtilisin/kexin type 9 as monotherapy in patients with hypercholesterolaemia (MENDEL): a randomised, double-blind, placebo-controlled, phase 2 study.

Authors:  Michael J Koren; Rob Scott; Jae B Kim; Beat Knusel; Thomas Liu; Lei Lei; Michael Bolognese; Scott M Wasserman
Journal:  Lancet       Date:  2012-11-06       Impact factor: 79.321

4.  Molecular characterization of loss-of-function mutations in PCSK9 and identification of a compound heterozygote.

Authors:  Zhenze Zhao; Yetsa Tuakli-Wosornu; Thomas A Lagace; Lisa Kinch; Nicholas V Grishin; Jay D Horton; Jonathan C Cohen; Helen H Hobbs
Journal:  Am J Hum Genet       Date:  2006-07-18       Impact factor: 11.025

5.  Combined analysis of oligonucleotide microarray data from transgenic and knockout mice identifies direct SREBP target genes.

Authors:  Jay D Horton; Nila A Shah; Janet A Warrington; Norma N Anderson; Sahng Wook Park; Michael S Brown; Joseph L Goldstein
Journal:  Proc Natl Acad Sci U S A       Date:  2003-09-25       Impact factor: 11.205

6.  Mutations in PCSK9 cause autosomal dominant hypercholesterolemia.

Authors:  Marianne Abifadel; Mathilde Varret; Jean-Pierre Rabès; Delphine Allard; Khadija Ouguerram; Martine Devillers; Corinne Cruaud; Suzanne Benjannet; Louise Wickham; Danièle Erlich; Aurélie Derré; Ludovic Villéger; Michel Farnier; Isabel Beucler; Eric Bruckert; Jean Chambaz; Bernard Chanu; Jean-Michel Lecerf; Gerald Luc; Philippe Moulin; Jean Weissenbach; Annick Prat; Michel Krempf; Claudine Junien; Nabil G Seidah; Catherine Boileau
Journal:  Nat Genet       Date:  2003-06       Impact factor: 38.330

7.  Adenoviral-mediated expression of Pcsk9 in mice results in a low-density lipoprotein receptor knockout phenotype.

Authors:  Kara N Maxwell; Jan L Breslow
Journal:  Proc Natl Acad Sci U S A       Date:  2004-04-26       Impact factor: 11.205

8.  Novel putative SREBP and LXR target genes identified by microarray analysis in liver of cholesterol-fed mice.

Authors:  Kara N Maxwell; Raymond E Soccio; Elizabeth M Duncan; Ephraim Sehayek; Jan L Breslow
Journal:  J Lipid Res       Date:  2003-08-01       Impact factor: 5.922

9.  Atorvastatin with or without an antibody to PCSK9 in primary hypercholesterolemia.

Authors:  Eli M Roth; James M McKenney; Corinne Hanotin; Gaelle Asset; Evan A Stein
Journal:  N Engl J Med       Date:  2012-10-31       Impact factor: 91.245

10.  PCSK9: a convertase that coordinates LDL catabolism.

Authors:  Jay D Horton; Jonathan C Cohen; Helen H Hobbs
Journal:  J Lipid Res       Date:  2008-11-19       Impact factor: 5.922

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  13 in total

Review 1.  The past 10 years-new hormones, new functions, new endocrine organs.

Authors:  Roger Bouillon; Daniel J Drucker; Ele Ferrannini; Steven Grinspoon; Clifford J Rosen; Paul Zimmet
Journal:  Nat Rev Endocrinol       Date:  2015-09-01       Impact factor: 43.330

Review 2.  Genetics of extreme human longevity to guide drug discovery for healthy ageing.

Authors:  Zhengdong D Zhang; Sofiya Milman; Jhih-Rong Lin; Shayne Wierbowski; Haiyuan Yu; Nir Barzilai; Vera Gorbunova; Warren C Ladiges; Laura J Niedernhofer; Yousin Suh; Paul D Robbins; Jan Vijg
Journal:  Nat Metab       Date:  2020-07-27

Review 3.  Individualized medicine from prewomb to tomb.

Authors:  Eric J Topol
Journal:  Cell       Date:  2014-03-27       Impact factor: 41.582

4.  Praluent (Alirocumab): First PCSK9 Inhibitor Approved by the FDA for Hypercholesterolemia.

Authors:  Lisa A Raedler
Journal:  Am Health Drug Benefits       Date:  2016-03

5.  Accelerating Precision Drug Development and Drug Repurposing by Leveraging Human Genetics.

Authors:  Jill M Pulley; Jana K Shirey-Rice; Robert R Lavieri; Rebecca N Jerome; Nicole M Zaleski; David M Aronoff; Lisa Bastarache; Xinnan Niu; Kenneth J Holroyd; Dan M Roden; Eric P Skaar; Colleen M Niswender; Lawrence J Marnett; Craig W Lindsley; Leeland B Ekstrom; Alan R Bentley; Gordon R Bernard; Charles C Hong; Joshua C Denny
Journal:  Assay Drug Dev Technol       Date:  2017-04-05       Impact factor: 1.738

Review 6.  [Introduction of PCSK9 inhibitors : New perspectives in treatment and practical implementation].

Authors:  G Klose
Journal:  Herz       Date:  2016-06       Impact factor: 1.443

7.  Prognostic Implications of Long-Chain Acylcarnitines in Heart Failure and Reversibility With Mechanical Circulatory Support.

Authors:  Tariq Ahmad; Jacob P Kelly; Robert W McGarrah; Anne S Hellkamp; Mona Fiuzat; Jeffrey M Testani; Teresa S Wang; Amanda Verma; Marc D Samsky; Mark P Donahue; Olga R Ilkayeva; Dawn E Bowles; Chetan B Patel; Carmelo A Milano; Joseph G Rogers; G Michael Felker; Christopher M O'Connor; Svati H Shah; William E Kraus
Journal:  J Am Coll Cardiol       Date:  2016-01-26       Impact factor: 24.094

8.  The dual behavior of PCSK9 in the regulation of apoptosis is crucial in Alzheimer's disease progression (Review).

Authors:  Qi Wu; Zhi-Han Tang; Juan Peng; Ling Liao; Li-Hong Pan; Chun-Yan Wu; Zhi-Sheng Jiang; Gui-Xue Wang; Lu-Shan Liu
Journal:  Biomed Rep       Date:  2013-12-30

9.  Whole-Genome Sequencing of Pharmacogenetic Drug Response in Racially Diverse Children with Asthma.

Authors:  Angel C Y Mak; Marquitta J White; Walter L Eckalbar; Zachary A Szpiech; Sam S Oh; Maria Pino-Yanes; Donglei Hu; Pagé Goddard; Scott Huntsman; Joshua Galanter; Ann Chen Wu; Blanca E Himes; Soren Germer; Julia M Vogel; Karen L Bunting; Celeste Eng; Sandra Salazar; Kevin L Keys; Jennifer Liberto; Thomas J Nuckton; Thomas A Nguyen; Dara G Torgerson; Pui-Yan Kwok; Albert M Levin; Juan C Celedón; Erick Forno; Hakon Hakonarson; Patrick M Sleiman; Amber Dahlin; Kelan G Tantisira; Scott T Weiss; Denise Serebrisky; Emerita Brigino-Buenaventura; Harold J Farber; Kelley Meade; Michael A Lenoir; Pedro C Avila; Saunak Sen; Shannon M Thyne; William Rodriguez-Cintron; Cheryl A Winkler; Andrés Moreno-Estrada; Karla Sandoval; Jose R Rodriguez-Santana; Rajesh Kumar; L Keoki Williams; Nadav Ahituv; Elad Ziv; Max A Seibold; Robert B Darnell; Noah Zaitlen; Ryan D Hernandez; Esteban G Burchard
Journal:  Am J Respir Crit Care Med       Date:  2018-06-15       Impact factor: 30.528

Review 10.  Human Knockout Carriers: Dead, Diseased, Healthy, or Improved?

Authors:  Vagheesh M Narasimhan; Yali Xue; Chris Tyler-Smith
Journal:  Trends Mol Med       Date:  2016-03-14       Impact factor: 11.951

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