A5086811494- Retinal Development and Disorders
- Cardiac electrophysiology and arrhythmias
- Aortic Disease and Treatment Approaches
- Cardiac Valve Diseases and Treatments
- Retinal Diseases and Treatments
- Aortic aneurysm repair treatments
- Ion channel regulation and function
- Cardiac Structural Anomalies and Repair
- Glaucoma and retinal disorders
- RNA and protein synthesis mechanisms
- Infectious Aortic and Vascular Conditions
- Cardiomyopathy and Myosin Studies
- Plant Molecular Biology Research
- RNA regulation and disease
- Cardiac Arrhythmias and Treatments
- Infective Endocarditis Diagnosis and Management
- Cardiovascular Effects of Exercise
- Genomics and Rare Diseases
- Pharmacy and Medical Practices
- Ocular Disorders and Treatments
- Cardiac tumors and thrombi
- Cardiac pacing and defibrillation studies
- CRISPR and Genetic Engineering
- Venous Thromboembolism Diagnosis and Management
- Advanced biosensing and bioanalysis techniques
Vanderbilt University Medical Center
2019-2025
Shinshu University
2015-2025
Vanderbilt University
2020-2025
Okayama University of Science
2020-2025
Kanazawa Hospital
2011-2024
Shinshu University Hospital
2024
Shiga University of Medical Science
2015-2023
Nara Institute of Science and Technology
2003-2023
Meiji Pharmaceutical University
2013-2023
Otsuka (Japan)
2023
Epigenetics is defined as mechanisms that regulate gene expression without base sequence alteration. One molecular basis considered to be DNA cytosine methylation, which reversibly modifies or chromatin structures. Although its correlation with epigenetic inheritance over generations has been circumstantially shown, evidence at the level limited. The present study aims find genes whose methylation status directly correlates of phenotypic changes. in vivo was artificially reduced by treating...
Abstract Aims In patients with catecholaminergic polymorphic ventricular tachycardia (CPVT), implantable cardioverter-defibrillator (ICD) shocks are sometimes ineffective and may even trigger fatal electrical storms. We assessed the efficacy complications of ICDs placed in CPVT who presented a sentinel event sudden cardiac arrest (SCA) while undiagnosed therefore untreated. Methods results analysed 136 SCA whom was diagnosed subsequently, leading to initiation guideline-directed therapy,...
Background The genetic profile of retinitis pigmentosa (RP) in East Asian populations has not been well characterised. Therefore, we conducted a large-scale sequencing study to investigate the genes and variants causing RP Japanese population. Methods A total 1209 patients diagnosed with typical were enrolled. We performed deep resequencing 83 known causative using next-generation sequencing. defined pathogenic as those that putatively deleterious or registered Human Gene Mutation Database...
A 67 year old right handed Japanese man developed prosopagnosia caused by a haemorrhage. His only deficit was the inability to perceive and discriminate unfamiliar faces, recognise familiar faces. He did not show deficits in visual or visuospatial perception of non-facial stimuli, alexia, agnosia, topographical disorientation. Brain MRI showed haematoma limited fusiform lateral occipital region. Single photon emission computed tomography confirmed that there no decreased blood flow opposite...
Dioecy is a plant mating system in which individuals of species are either male or female. Although many flowering plants evolved independently from hermaphroditism to dioecy, the molecular mechanism underlying this transition remains largely unknown. Sex determination dioecious Asparagus officinalis controlled by X and Y chromosomes; female karyotypes XY XX, respectively. Transcriptome analysis A. buds showed that MYB ‐like gene, Male Specific Expression 1 ( MSE1 ), specifically expressed...
Background: Variants in ion channel genes have classically been studied low throughput by patch clamping. Deep mutational scanning is a complementary approach that can simultaneously assess function of thousands variants. Methods: We developed and validated method to perform deep scan variants SCN5A , which encodes the major voltage-gated sodium heart. created library nearly all possible 36 base region S4 voltage sensor domain IV stably integrated into HEK293T cells. Results: In preliminary...
Multiple reports associate the cardiac sodium channel gene (SCN5A) variants S1103Y and R1193Q with type 3 congenital long QT syndrome drug-induced syndrome. These are too common in ancestral populations to be highly arrhythmogenic at baseline, however: allele frequency is 8.1% African Americans 6.1% East Asians. known increase late current (INa-L) cardiomyocytes derived from induced pluripotent stem cells but role of these modulating repolarization remains poorly understood.We determined...
More than one-third of type 2 long QT syndrome (LQT2) patients carry KCNH2 non-missense variants that can result in haploinsufficiency (HI), leading to mechanistic loss-of-function. However, their clinical phenotypes have not been fully investigated. The remaining two-thirds harbour missense variants, and past studies uncovered most these cause trafficking deficiency, resulting different functional changes: either HI or dominant-negative (DN) effects. In this study, we examined the impact...
Copy-number variants (CNVs) play a substantial role in the molecular pathogenesis of hereditary disease and cancer, as well normal human interindividual variation. However, they are still rather difficult to identify mainstream sequencing projects, especially involving exome sequencing, because often occur DNA regions that not targeted for analysis. To overcome this problem, we developed OFF-PEAK, user-friendly CNV detection tool builds on denoising approach use "off-target" reads, which...
In plant DNA, cytosines in symmetric CpG and CpNpG (N is A, T, or C) are thought to be methylated by DNA methyltransferases, MET1 CMT3, respectively. Cytosines asymmetric CpNpN also methylated, genetic analysis has suggested the responsible enzyme domains rearranged methyltransferase (DRM). We cloned a tobacco cDNA, encoding novel protein consisting of 608 amino acids, that resembled DRMs found maize Arabidopsis designated this as NtDRM1. The could shown localized exclusively nucleus exhibit...
Pluripotent stem cell-derived cardiomyocytes show great promise in regenerating the heart after myocardial infarction; however, several uncertainties exist that must be addressed before clinical trials. One practical issue is graft survival following transplantation. Although a pro-survival cocktail with Matrigel has been shown to enhance survival, use of may not clinically feasible. The purpose this study was test whether hyaluronan-based hydrogel, HyStem, could substitute for Matrigel....
Hereditary retinal degenerations (HRDs) are Mendelian diseases characterized by progressive blindness and caused ultra-rare mutations. In a genomic screen of 331 unrelated Japanese patients, we identify disruptive Alu insertion nonsense variant (p.Arg1933*) in the ciliary gene RP1, neither which rare alleles Japan. p.Arg1933* is almost polymorphic (frequency = 0.6%, amongst 12,000 individuals), does not cause disease homozygosis or heterozygosis, yet significantly enriched HRD patients 2.1%,...
Gain-of-function mutations in RYR2, encoding the cardiac ryanodine receptor channel (RyR2), cause catecholaminergic polymorphic ventricular tachycardia (CPVT). Whereas, genotype-phenotype correlations of loss-of-function remains unknown, due to a small number analysed mutations. In this study, we aimed investigate their patients with RYR2 mutations.We performed targeted gene sequencing for 710 probands younger than 16-year-old inherited primary arrhythmia syndromes (IPAS). were identified 63...
Background: Sequencing Mendelian arrhythmia genes in individuals without an indication for genetic testing can identify carriers of pathogenic or likely (P/LP) variants. However, the extent to which these variants are associated with clinically meaningful phenotypes before after return variant results is unclear. In addition, majority discovered currently classified as uncertain significance, limiting clinical actionability. Methods: The eMERGE-III study (Electronic Medical Records and...
Background As gene-specific therapy for inherited retinal dystrophy (IRD) advances, unified variant interpretation across institutes is becoming increasingly important. This study aims to update the genetic findings of 86 retinitis pigmentosa (RP)-related genes in a large number Japanese patients with RP by applying standardised guidelines IRD (J-IRD-VI guidelines) built upon American College Medical Genetics and Genomics Association Molecular Pathology rules, assess contribution these...
Nuclear factor-kappaB (NFkappaB) plays a significant role in the coordinated transactivation of cytokine, inducible NO synthase (iNOS), and adhesion molecule genes. Although inflammation is an essential pathological feature myocarditis, NFkappaB this process remains obscure. We examined progression rat experimental autoimmune myocarditis (EAM) tested hypothesis that blockade with decoy against cis element can prevent EAM. Lewis rats were immunized purified porcine cardiac myosin to establish...