Deep intronic mutations and human disease

R Vaz-Drago, N Custódio, M Carmo-Fonseca - Human genetics, 2017 - Springer
Next-generation sequencing has revolutionized clinical diagnostic testing. Yet, for a
substantial proportion of patients, sequence information restricted to exons and exon–intron …

Pluripotent stem cells in disease modelling and drug discovery

Y Avior, I Sagi, N Benvenisty - Nature reviews Molecular cell biology, 2016 - nature.com
Experimental modelling of human disorders enables the definition of the cellular and
molecular mechanisms underlying diseases and the development of therapies for treating …

Advanced maturation of human cardiac tissue grown from pluripotent stem cells

K Ronaldson-Bouchard, SP Ma, K Yeager, T Chen… - Nature, 2018 - nature.com
Cardiac tissues generated from human induced pluripotent stem cells (iPSCs) can serve as
platforms for patient-specific studies of physiology and disease,,,,–. However, the predictive …

Bioengineering approaches for the advanced organoid research

SA Yi, Y Zhang, C Rathnam, T Pongkulapa… - Advanced …, 2021 - Wiley Online Library
Recent advances in 3D cell culture technology have enabled scientists to generate stem cell
derived organoids that recapitulate the structural and functional characteristics of native …

Aging in a dish: iPSC-derived and directly induced neurons for studying brain aging and age-related neurodegenerative diseases

J Mertens, D Reid, S Lau, Y Kim… - Annual review of …, 2018 - annualreviews.org
Age-associated neurological diseases represent a profound challenge in biomedical
research as we are still struggling to understand the interface between the aging process …

MUSCLEMOTION: a versatile open software tool to quantify cardiomyocyte and cardiac muscle contraction in vitro and in vivo

L Sala, BJ Van Meer, LGJ Tertoolen, J Bakkers… - Circulation …, 2018 - Am Heart Assoc
Rationale: There are several methods to measure cardiomyocyte and muscle contraction,
but these require customized hardware, expensive apparatus, and advanced informatics or …

[HTML][HTML] Human iPSC-based modeling of late-onset disease via progerin-induced aging

JD Miller, YM Ganat, S Kishinevsky, RL Bowman, B Liu… - Cell stem cell, 2013 - cell.com
Reprogramming somatic cells to induced pluripotent stem cells (iPSCs) resets their identity
back to an embryonic age and, thus, presents a significant hurdle for modeling late-onset …

TGF-β signaling in control of cardiovascular function

MJ Goumans, P Ten Dijke - Cold Spring Harbor …, 2018 - cshperspectives.cshlp.org
Genetic studies in animals and humans indicate that gene mutations that functionally perturb
transforming growth factor β (TGF-β) signaling are linked to specific hereditary vascular …

[HTML][HTML] Biology-inspired microphysiological system approaches to solve the prediction dilemma of substance testing

U Marx, TB Andersson, A Bahinski, M Beilmann… - Altex, 2016 - ncbi.nlm.nih.gov
The recent advent of microphysiological systems–microfluidic biomimetic devices that aspire
to emulate the biology of human tissues, organs and circulation in vitro–is envisaged to …

Neuronal medium that supports basic synaptic functions and activity of human neurons in vitro

C Bardy, M Van Den Hurk, T Eames… - Proceedings of the …, 2015 - National Acad Sciences
Human cell reprogramming technologies offer access to live human neurons from patients
and provide a new alternative for modeling neurological disorders in vitro. Neural electrical …