Aya Miura

Japan

Last Updated: 09/26/2026

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Found 13 publications

Post-mortem diagnosis of CACT deficiency with a novel SLC25A20 variant.

Post-mortem diagnosis of CACT deficiency with a novel SLC25A20 variant.

Journal: Human genome variation

Published: April 27, 2026

Molecular biological effect of Rbm20 I538T knock-in mice on skeletal muscle.

Molecular biological effect of Rbm20 I538T knock-in mice on skeletal muscle.

Journal: Legal medicine (Tokyo, Japan)

Published: January 28, 2026

Q373fs variant of RBM20 affects splicing and expression of cardiac-related genes and cardiac function: human sudden death case and mouse experiments.

Q373fs variant of RBM20 affects splicing and expression of cardiac-related genes and cardiac function: human sudden death case and mouse experiments.

Journal: Human molecular genetics

Published: May 03, 2025

Postmortem Identification of Genetic Variations Associated with Sudden Unexpected Death in Young People.

Postmortem Identification of Genetic Variations Associated with Sudden Unexpected Death in Young People.

Journal: International heart journal

Published: January 31, 2024

A potent and selective cis-amide inhibitor of ryanodine receptor 2 as a candidate for cardiac arrhythmia treatment.

A potent and selective cis-amide inhibitor of ryanodine receptor 2 as a candidate for cardiac arrhythmia treatment.

Journal: European journal of medicinal chemistry

Published: September 14, 2023

Molecular autopsy for sudden death in Japan.

Molecular autopsy for sudden death in Japan.

Journal: Journal of toxicologic pathology

Published: June 21, 2023

Screening for Novel Type 2 Ryanodine Receptor Inhibitors by Endoplasmic Reticulum Ca2+ Monitoring.

Screening for Novel Type 2 Ryanodine Receptor Inhibitors by Endoplasmic Reticulum Ca2+ Monitoring.

Journal: Molecular pharmacology

Published: May 09, 2023

I536T variant of RBM20 affects splicing of cardiac structural proteins that are causative for developing dilated cardiomyopathy.

I536T variant of RBM20 affects splicing of cardiac structural proteins that are causative for developing dilated cardiomyopathy.

Journal: Journal of molecular medicine (Berlin, Germany)

Published: August 26, 2022

PROS1 variant in sudden death case of pulmonary embolism caused by calcification in the inferior vena cava: The importance of postmortem genetic analysis.

PROS1 variant in sudden death case of pulmonary embolism caused by calcification in the inferior vena cava: The importance of postmortem genetic analysis.

Journal: Legal medicine (Tokyo, Japan)

Published: October 07, 2021

Circadian Clock in Arabidopsis thaliana Determines Flower Opening Time Early in the Morning and Dominantly Closes Early in the Afternoon.

Circadian Clock in Arabidopsis thaliana Determines Flower Opening Time Early in the Morning and Dominantly Closes Early in the Afternoon.

Journal: Plant & cell physiology

Published: November 22, 2020

Sudden Unexpected Death of Infantile Dilated Cardiomyopathy with JPH2 and PKD1 Gene Variants.

Sudden Unexpected Death of Infantile Dilated Cardiomyopathy with JPH2 and PKD1 Gene Variants.

Journal: International heart journal

Published: September 04, 2020

RNA sequencing reveals abnormal LDB3 splicing in sudden cardiac death.

RNA sequencing reveals abnormal LDB3 splicing in sudden cardiac death.

Journal: Forensic science international

Published: July 02, 2019

Showing 1-12 of 13

Last Updated: 09/26/2026