Literature DB >> 23690830

Induced pluripotent stem cell modeling of complex genetic diseases.

J Travis Hinson1, Kenta Nakamura, Sean M Wu.   

Abstract

The study of complex disease genetics by genome-wide association studies (GWAS) has led to hundreds of genomic loci associated with disease traits in humans. However, the functional consequences of most loci are largely undefined. We discuss here the potential for human induced pluripotent stem (iPS) cells to bridge the gap between genetic variant and mechanisms of complex disease. We also highlight specific diseases and the roadblocks that must be overcome before iPS cell technology can be widely adopted for complex disease modeling.

Entities:  

Year:  2012        PMID: 23690830      PMCID: PMC3653342          DOI: 10.1016/j.ddmod.2012.04.002

Source DB:  PubMed          Journal:  Drug Discov Today Dis Models        ISSN: 1740-6757


  35 in total

1.  The structure of haplotype blocks in the human genome.

Authors:  Stacey B Gabriel; Stephen F Schaffner; Huy Nguyen; Jamie M Moore; Jessica Roy; Brendan Blumenstiel; John Higgins; Matthew DeFelice; Amy Lochner; Maura Faggart; Shau Neen Liu-Cordero; Charles Rotimi; Adebowale Adeyemo; Richard Cooper; Ryk Ward; Eric S Lander; Mark J Daly; David Altshuler
Journal:  Science       Date:  2002-05-23       Impact factor: 47.728

2.  Complement factor H polymorphism in age-related macular degeneration.

Authors:  Robert J Klein; Caroline Zeiss; Emily Y Chew; Jen-Yue Tsai; Richard S Sackler; Chad Haynes; Alice K Henning; John Paul SanGiovanni; Shrikant M Mane; Susan T Mayne; Michael B Bracken; Frederick L Ferris; Jurg Ott; Colin Barnstable; Josephine Hoh
Journal:  Science       Date:  2005-03-10       Impact factor: 47.728

3.  Generation of isogenic pluripotent stem cells differing exclusively at two early onset Parkinson point mutations.

Authors:  Frank Soldner; Josée Laganière; Albert W Cheng; Dirk Hockemeyer; Qing Gao; Raaji Alagappan; Vikram Khurana; Lawrence I Golbe; Richard H Myers; Susan Lindquist; Lei Zhang; Dmitry Guschin; Lauren K Fong; B Joseph Vu; Xiangdong Meng; Fyodor D Urnov; Edward J Rebar; Philip D Gregory; H Steve Zhang; Rudolf Jaenisch
Journal:  Cell       Date:  2011-07-14       Impact factor: 41.582

Review 4.  Prevention and treatment of the complications of diabetes mellitus.

Authors:  C M Clark; D A Lee
Journal:  N Engl J Med       Date:  1995-05-04       Impact factor: 91.245

5.  Modelling the long QT syndrome with induced pluripotent stem cells.

Authors:  Ilanit Itzhaki; Leonid Maizels; Irit Huber; Limor Zwi-Dantsis; Oren Caspi; Aaron Winterstern; Oren Feldman; Amira Gepstein; Gil Arbel; Haim Hammerman; Monther Boulos; Lior Gepstein
Journal:  Nature       Date:  2011-01-16       Impact factor: 49.962

Review 6.  Discovering genotypes underlying human phenotypes: past successes for mendelian disease, future approaches for complex disease.

Authors:  David Botstein; Neil Risch
Journal:  Nat Genet       Date:  2003-03       Impact factor: 38.330

7.  Targeted deletion of the 9p21 non-coding coronary artery disease risk interval in mice.

Authors:  Axel Visel; Yiwen Zhu; Dalit May; Veena Afzal; Elaine Gong; Catia Attanasio; Matthew J Blow; Jonathan C Cohen; Edward M Rubin; Len A Pennacchio
Journal:  Nature       Date:  2010-02-21       Impact factor: 49.962

8.  Venous thrombosis due to poor anticoagulant response to activated protein C: Leiden Thrombophilia Study.

Authors:  T Koster; F R Rosendaal; H de Ronde; E Briët; J P Vandenbroucke; R M Bertina
Journal:  Lancet       Date:  1993 Dec 18-25       Impact factor: 79.321

9.  Generation of pluripotent stem cells from patients with type 1 diabetes.

Authors:  René Maehr; Shuibing Chen; Melinda Snitow; Thomas Ludwig; Lisa Yagasaki; Robin Goland; Rudolph L Leibel; Douglas A Melton
Journal:  Proc Natl Acad Sci U S A       Date:  2009-08-31       Impact factor: 11.205

10.  Genetic engineering of human pluripotent cells using TALE nucleases.

Authors:  Dirk Hockemeyer; Haoyi Wang; Samira Kiani; Christine S Lai; Qing Gao; John P Cassady; Gregory J Cost; Lei Zhang; Yolanda Santiago; Jeffrey C Miller; Bryan Zeitler; Jennifer M Cherone; Xiangdong Meng; Sarah J Hinkley; Edward J Rebar; Philip D Gregory; Fyodor D Urnov; Rudolf Jaenisch
Journal:  Nat Biotechnol       Date:  2011-07-07       Impact factor: 54.908

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  1 in total

Review 1.  Genome Editing and Induced Pluripotent Stem Cell Technologies for Personalized Study of Cardiovascular Diseases.

Authors:  Young Wook Chun; Matthew D Durbin; Charles C Hong
Journal:  Curr Cardiol Rep       Date:  2018-04-17       Impact factor: 2.931

  1 in total

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