Induced pluripotent stem cells in disease modelling and drug discovery

RG Rowe, GQ Daley - Nature Reviews Genetics, 2019 - nature.com
The derivation of induced pluripotent stem cells (iPSCs) over a decade ago sparked
widespread enthusiasm for the development of new models of human disease, enhanced …

[HTML][HTML] Human-specific genetics: new tools to explore the molecular and cellular basis of human evolution

AA Pollen, U Kilik, CB Lowe, JG Camp - Nature Reviews Genetics, 2023 - nature.com
Our ancestors acquired morphological, cognitive and metabolic modifications that enabled
humans to colonize diverse habitats, develop extraordinary technologies and reshape the …

Determinants of telomere length across human tissues

K Demanelis, F Jasmine, LS Chen, M Chernoff, L Tong… - Science, 2020 - science.org
INTRODUCTION Telomeres are DNA-protein complexes located at the end of chromosomes
that protect chromosome ends from degradation and fusion. The DNA component of …

Addressing variability in iPSC-derived models of human disease: guidelines to promote reproducibility

V Volpato, C Webber - Disease models & mechanisms, 2020 - journals.biologists.com
Induced pluripotent stem cell (iPSC) technologies have provided in vitro models of
inaccessible human cell types, yielding new insights into disease mechanisms especially for …

Enhancer release and retargeting activates disease-susceptibility genes

S Oh, J Shao, J Mitra, F Xiong, M D'Antonio, R Wang… - Nature, 2021 - nature.com
The functional engagement between an enhancer and its target promoter ensures precise
gene transcription. Understanding the basis of promoter choice by enhancers has important …

The consequences of recurrent genetic and epigenetic variants in human pluripotent stem cells

PW Andrews, I Barbaric, N Benvenisty, JS Draper… - Cell Stem Cell, 2022 - cell.com
It is well established that human pluripotent stem cells (hPSCs) can acquire genetic and
epigenetic changes during culture in vitro. Given the increasing use of hPSCs in research …

Common genetic variation drives molecular heterogeneity in human iPSCs

H Kilpinen, A Goncalves, A Leha, V Afzal, K Alasoo… - Nature, 2017 - nature.com
Technology utilizing human induced pluripotent stem cells (iPS cells) has enormous
potential to provide improved cellular models of human disease. However, variable genetic …

[HTML][HTML] Cardiovascular disease models: a game changing paradigm in drug discovery and screening

H Savoji, MH Mohammadi, N Rafatian, MK Toroghi… - Biomaterials, 2019 - Elsevier
Cardiovascular disease is the leading cause of death worldwide. Although investment in
drug discovery and development has been sky-rocketing, the number of approved drugs has …

[HTML][HTML] Human neuronal networks on micro-electrode arrays are a highly robust tool to study disease-specific genotype-phenotype correlations in vitro

B Mossink, AHA Verboven, EJH van Hugte… - Stem cell reports, 2021 - cell.com
Micro-electrode arrays (MEAs) are increasingly used to characterize neuronal network
activity of human induced pluripotent stem cell (hiPSC)-derived neurons. Despite their gain …

A computational model of induced pluripotent stem‐cell derived cardiomyocytes incorporating experimental variability from multiple data sources

DC Kernik, S Morotti, HD Wu, P Garg… - The Journal of …, 2019 - Wiley Online Library
Key points Induced pluripotent stem cell‐derived cardiomyocytes (iPSC‐CMs) capture
patient‐specific genotype–phenotype relationships, as well as cell‐to‐cell variability of …