A comparison of genetically matched cell lines reveals the equivalence of human iPSCs and ESCs

J Choi, S Lee, W Mallard, K Clement… - Nature …, 2015 - nature.com
The equivalence of human induced pluripotent stem cells (hiPSCs) and human embryonic
stem cells (hESCs) remains controversial. Here we use genetically matched hESC and …

Essential gene profiles for human pluripotent stem cells identify uncharacterized genes and substrate dependencies

B Mair, J Tomic, SN Masud, P Tonge, A Weiss, M Usaj… - Cell reports, 2019 - cell.com
Human pluripotent stem cells (hPSCs) provide an invaluable tool for modeling diseases and
hold promise for regenerative medicine. For understanding pluripotency and lineage …

EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy

S Byrne, L Jansen, JM U-King-Im, A Siddiqui… - Brain, 2016 - academic.oup.com
Vici syndrome is a progressive neurodevelopmental multisystem disorder due to recessive
mutations in the key autophagy gene EPG5. We report genetic, clinical, neuroradiological …

[HTML][HTML] Genome-scale CRISPR screens identify human pluripotency-specific genes

RJ Ihry, MR Salick, DJ Ho, M Sondey, S Kommineni… - Cell reports, 2019 - cell.com
Human pluripotent stem cells (hPSCs) generate a variety of disease-relevant cells that can
be used to improve the translation of preclinical research. Despite the potential of hPSCs …

Aberrant expression of miR‐218 and miR‐204 in human mesial temporal lobe epilepsy and hippocampal sclerosis—Convergence on axonal guidance

SS Kaalund, MT Venø, M Bak, RS Møller, H Laursen… - …, 2014 - Wiley Online Library
Objective Mesial temporal lobe epilepsy (MTLE) is one of the most common types of the
intractable epilepsies and is most often associated with hippocampal sclerosis (HS), which …

Integrated loss-and gain-of-function screens define a core network governing human embryonic stem cell behavior

K Naxerova, B Di Stefano, JL Makofske… - Genes & …, 2021 - genesdev.cshlp.org
Understanding the genetic control of human embryonic stem cell function is foundational for
developmental biology and regenerative medicine. Here we describe an integrated genome …

Toxicological mechanism of individual susceptibility to formaldehyde-induced respiratory effects

M Tian, P Xia, L Yan, X Gou, JP Giesy… - Environmental …, 2022 - ACS Publications
Understanding the mechanisms of individual susceptibility to exposure to environmental
pollutants has been a challenge in health risk assessment. Here, an integrated approach …

Studying human disease using human neurons

T Ahfeldt, NK Litterman, LL Rubin - Brain research, 2017 - Elsevier
Utilizing patient derived cells has enormous promise for discovering new drugs for diseases
of the nervous system, a goal that has been historically quite challenging. In this review, we …

Impact of RNA-guided technologies for target identification and deconvolution

M Fennell, Q Xiang, A Hwang, C Chen… - Journal of …, 2014 - journals.sagepub.com
For well over a decade, RNA interference (RNAi) has provided a powerful tool for
investigators to query specific gene targets in an easily modulated loss-of-function setting …

Variation of DNA methylation on the IRX1/2 genes is responsible for the neural differentiation propensity in human induced pluripotent stem cells

A Sekiya, K Takasawa, Y Arai, S Horike, H Akutsu… - Regenerative …, 2022 - Elsevier
Introduction Human induced pluripotent stem cells (hiPSCs) are useful tools for reproducing
neural development in vitro. However, each hiPSC line has a different ability to differentiate …