Publications by authors named "Risako Yang"
Article Synopsis
- Some mutations in the Ca1.2 calcium channel gene lead to Timothy syndrome, a severe form of long QT syndrome, with no current effective treatments.
- Targeting sigma non-opioid intracellular receptor 1 (SIGMAR1) can restore heart function in heart cells derived from patients with Timothy syndrome and other types of long QT syndrome.
- The FDA-approved cough suppressant dextromethorphan acts as a SIGMAR1 agonist, improving cardiac function in Timothy syndrome models and suggesting a new therapeutic avenue for related inherited arrhythmias.
Background: Understanding the molecular and cellular mechanisms of human reproductive development has been limited by the scarcity of human samples and ethical constraints. Recently, in vitro differentiation of human pluripotent stem cells into germ cells and single-cell analyses have opened new avenues to directly study human germ cells and identify unique mechanisms in human reproductive development.
Objective And Rationale: The goal of this review is to collate novel findings and insightful discoveries with these new methodologies, aiming at introducing researchers and clinicians to the use of these tools to study human reproductive biology and develop treatments for infertility.