Literature DB >> 23661745

Genetics. Simple genetics for a complex disease.

Jonathan C Cohen1, Helen H Hobbs.   

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Year:  2013        PMID： 23661745      PMCID： PMC3839083          DOI： 10.1126/science.1239101

Source DB:  PubMed          Journal:  Science        ISSN： 0036-8075            Impact factor:   47.728


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  10 in total

1.  Are rare variants responsible for susceptibility to complex diseases?

Authors:  J K Pritchard
Journal:  Am J Hum Genet       Date:  2001-06-12       Impact factor: 11.025

2.  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

Review 3.  A receptor-mediated pathway for cholesterol homeostasis.

Authors:  M S Brown; J L Goldstein
Journal:  Science       Date:  1986-04-04       Impact factor: 47.728

4.  The C679X mutation in PCSK9 is present and lowers blood cholesterol in a Southern African population.

Authors:  Amanda J Hooper; A David Marais; Donald M Tanyanyiwa; John R Burnett
Journal:  Atherosclerosis       Date:  2006-09-20       Impact factor: 5.162

5.  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

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

Review 7.  Potential of proprotein convertase subtilisin/kexin type 9 based therapeutics.

Authors:  Evan A Stein; Gary D Swergold
Journal:  Curr Atheroscler Rep       Date:  2013-03       Impact factor: 5.113

8.  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

9.  Molecular characterization of proprotein convertase subtilisin/kexin type 9-mediated degradation of the LDLR.

Authors:  Yan Wang; Yongcheng Huang; Helen H Hobbs; Jonathan C Cohen
Journal:  J Lipid Res       Date:  2012-07-04       Impact factor: 5.922

10.  SEC24A deficiency lowers plasma cholesterol through reduced PCSK9 secretion.

Authors:  Xiao-Wei Chen; He Wang; Kanika Bajaj; Pengcheng Zhang; Zhuo-Xian Meng; Danjun Ma; Yongsheng Bai; Hui-Hui Liu; Elizabeth Adams; Andrea Baines; Genggeng Yu; Maureen A Sartor; Bin Zhang; Zhengping Yi; Jiandie Lin; Stephen G Young; Randy Schekman; David Ginsburg
Journal:  Elife       Date:  2013-04-09       Impact factor: 8.140
  10 in total
  20 in total

1.  A genome-wide case-only test for the detection of digenic inheritance in human exomes.

Authors:  Gaspard Kerner; Matthieu Bouaziz; Aurélie Cobat; Benedetta Bigio; Andrew T Timberlake; Jacinta Bustamante; Richard P Lifton; Jean-Laurent Casanova; Laurent Abel
Journal:  Proc Natl Acad Sci U S A       Date:  2020-07-27       Impact factor: 11.205

2.  2016 Presidential Address: Let's Make Human Genetics Great (Again): The Importance of Beauty in Science.

Authors:  Harry C Dietz
Journal:  Am J Hum Genet       Date:  2017-03-02       Impact factor: 11.025

Review 3.  Genetic predisposition to preeclampsia is conferred by fetal DNA variants near FLT1, a gene involved in the regulation of angiogenesis.

Authors:  Kathryn J Gray; Richa Saxena; S Ananth Karumanchi
Journal:  Am J Obstet Gynecol       Date:  2017-11-11       Impact factor: 8.661

Review 4.  Applied pharmacogenomics in cardiovascular medicine.

Authors:  Peter Weeke; Dan M Roden
Journal:  Annu Rev Med       Date:  2013-10-02       Impact factor: 13.739

Review 5.  Role of endosomes and lysosomes in human disease.

Authors:  Frederick R Maxfield
Journal:  Cold Spring Harb Perspect Biol       Date:  2014-05-01       Impact factor: 10.005

Review 6.  Knowns and unknowns for psychophysiological endophenotypes: integration and response to commentaries.

Authors:  William G Iacono; Uma Vaidyanathan; Scott I Vrieze; Stephen M Malone
Journal:  Psychophysiology       Date:  2014-12       Impact factor: 4.016

7.  FOXO transcription factors in non-alcoholic fatty liver disease.

Authors:  X Charlie Dong
Journal:  Liver Res       Date:  2017-09

8.  GENETICS. Strength in small numbers.

Authors:  Sarah Tishkoff
Journal:  Science       Date:  2015-09-18       Impact factor: 47.728

9.  PCSK6-mediated corin activation is essential for normal blood pressure.

Authors:  Shenghan Chen; Pengxiu Cao; Ningzheng Dong; Jianhao Peng; Chunyi Zhang; Hao Wang; Tiantian Zhou; Junhua Yang; Yue Zhang; Elizabeth E Martelli; Sathyamangla V Naga Prasad; Rachel E Miller; Anne-Marie Malfait; Yiqing Zhou; Qingyu Wu
Journal:  Nat Med       Date:  2015-08-10       Impact factor: 53.440

10.  Characterization of the role of EGF-A of low density lipoprotein receptor in PCSK9 binding.

Authors:  Hong-mei Gu; Ayinuer Adijiang; Matthew Mah; Da-wei Zhang
Journal:  J Lipid Res       Date:  2013-10-08       Impact factor: 5.922
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