Shigetoyo Kogaki

ORCID: 0000-0001-6557-437X
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About
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Research Areas
  • Pulmonary Hypertension Research and Treatments
  • Transplantation: Methods and Outcomes
  • Congenital Heart Disease Studies
  • Cardiomyopathy and Myosin Studies
  • Cardiovascular Function and Risk Factors
  • Mechanical Circulatory Support Devices
  • Cardiac Structural Anomalies and Repair
  • Organ Transplantation Techniques and Outcomes
  • Congenital heart defects research
  • Cardiac electrophysiology and arrhythmias
  • Cardiac Valve Diseases and Treatments
  • Kawasaki Disease and Coronary Complications
  • Cardiac Arrhythmias and Treatments
  • Cardiovascular Effects of Exercise
  • Cardiovascular Issues in Pregnancy
  • Polyomavirus and related diseases
  • Pneumocystis jirovecii pneumonia detection and treatment
  • Pluripotent Stem Cells Research
  • Viral-associated cancers and disorders
  • Cardiac Imaging and Diagnostics
  • Heart Failure Treatment and Management
  • Coronary Artery Anomalies
  • Protein Tyrosine Phosphatases
  • Viral Infections and Immunology Research
  • Cardiac pacing and defibrillation studies

Osaka City General Hospital
2019-2024

Osaka Prefectural Medical Center
2019-2024

Osaka University
2012-2023

Osaka University Hospital
2006-2016

The University of Tokyo
2015

National Center For Child Health and Development
2015

Osaka City University
2012

National Cerebral and Cardiovascular Center
2011

University College London
2003

Texas Children's Hospital
1998

Abstract In order to evaluate the contribution of FBN1, FBN2, TGFBR1 , and TGFBR2 mutations Marfan syndrome (MFS) phenotype, four genes were analyzed by direct sequencing in 49 patients with MFS or suspected as a cohort study. A total 27 FBN1 (22 novel) (55%, 27/49), 1 novel mutation (2%, 1/49), 2 recurrent (4%, 2/49) identified. No FBN2 was found. Three either abnormality did not fulfill Ghent criteria, but expressed some overlapping features Loeys–Dietz (LDS). remaining 19 patients, show...

10.1002/ajmg.a.31353 article EN American Journal of Medical Genetics Part A 2006-07-11

Abstract Influenza-associated encephalopathy (IAE) is extremely acute in onset, with high lethality and morbidity within a few days, while the direct pathogenesis by influenza virus this phase brain largely unknown. Here we show that enters into cerebral endothelium thereby induces IAE. Three-weeks-old young mice were inoculated A (IAV). Physical neurological scores recorded temporal-spatial analyses of histopathology viral studies performed up to 72 h post inoculation. Histopathological...

10.1007/s00401-024-02723-z article EN cc-by Acta Neuropathologica 2024-04-30

LEOPARD syndrome (LS) is an autosomal dominant inherited multisystemic disorder. Most cases involve mutations in the PTPN11 gene, which encodes protein tyrosine phosphatase Src homology 2-containing 2 (SHP2). LS frequently causes severe hypertrophic cardiomyopathy (HCM), even from fetal period. However, molecular pathogenesis has not been clearly elucidated. Here, we analyzed roles of LS-type SHP2 mutant Gln510Glu (Q510E), showed most type HCM LS, cardiomyocyte differentiation, and...

10.1152/ajpheart.00216.2011 article EN AJP Heart and Circulatory Physiology 2011-07-30

A surface marker that distinctly identifies cardiac progenitors (CPs) is essential for the robust isolation of these cells, circumventing necessity genetic modification. Here, we demonstrate a Glycosylphosphatidylinositol-anchor containing neurotrophic factor receptor, Glial cell line-derived receptor alpha 2 (Gfra2), specifically marks CPs. GFRA2 expression facilitates CPs by fluorescence activated sorting from differentiating mouse and human pluripotent stem cells. Gfra2 mutants reveal an...

10.1016/j.celrep.2016.06.050 article EN cc-by Cell Reports 2016-07-01

Duchenne muscular dystrophy (DMD) is caused by mutations in the DMD gene which encodes dystrophin protein. Dystrophin defect affects cardiac muscle as well skeletal muscle. Cardiac dysfunction observed all patients with over 18 years of age, but there no curative treatment for cardiomyopathy. To establish novel experimental platforms reproduce phenotype patients, here we established iPS cell lines from T lymphocytes donated two a protocol using Sendai virus vectors. We successfully conducted...

10.1536/ihj.15-376 article EN International Heart Journal 2015-12-16

Rationale: To detect pulmonary arterial hypertension (PAH) at any early stage is a promising approach to optimize the outcome.Objectives: investigate impact of school ECG-based screening on detecting idiopathic or heritable (I/H)-PAH in general pediatric population.Methods: This was nationwide survey patients with I/H-PAH newly diagnosed 3 months 18 years age Japan during 2005–2012.Measurements and Main Results: Eighty-seven eligible (age range, 1–16 yr) were recruited. Among 68 (78%)...

10.1164/rccm.201802-0375oc article EN American Journal of Respiratory and Critical Care Medicine 2018-11-14

Restrictive cardiomyopathy in children is rare and outcomes are very poor. However, little information available concerning genotype-outcome correlations.We analyzed the clinical characteristics genetic testing, including whole exome sequencing, of 28 pediatric restrictive patients who were diagnosed from 1998 to 2021 at Osaka University Hospital Japan.The median age diagnosis (interquartile range) was 6 (2.25-8.5) years. Eighteen received heart transplantations 5 on waiting list. One...

10.1161/circgen.122.004054 article EN Circulation Genomic and Precision Medicine 2023-06-28

Left ventricular noncompaction (LVNC) is a hereditary type of cardiomyopathy. Although it associated with high morbidity and mortality, the related ion channel gene variants in children have not been fully investigated. This study aimed to elucidate genetic landscape LVNC identify genotype-phenotype correlations large Japanese cohort.We enrolled 206 from 2002 2017 Japan. was classified as follows: congenital heart defects, arrhythmia, dilated phenotype, or normal function. In patients, 182...

10.1161/circgen.119.002940 article EN Circulation Genomic and Precision Medicine 2020-06-30

Cardiomyopathy is a risk factor for poor prognosis in pediatric patients with mitochondrial disease. However, other factors including genetic related to disease has yet be fully elucidated.Between January 2004 and September 2019, we enrolled 223 consecutive aged <18 years confirmed diagnosis, 114 nuclear gene mutations, 89 DNA (mtDNA) point 11 mtDNA single large-scale deletions 9 chromosomal aberrations. at baseline was observed 46 (21%). Hazard ratios (HR) 95% confidence intervals (CI) were...

10.1016/j.ijcard.2021.06.042 article EN cc-by-nc-nd International Journal of Cardiology 2021-07-21

Background: To investigate the possible role of sex hormones in pathogenesis pulmonary arterial hypertension (PAH), effect β-estradiol (E2) on bone morphogenetic protein (BMP) signaling, a key signaling pathway involved PAH, was studied human endothelial cells (HPAEC). Methods and Results: BMP molecules, including receptor, Smad1/5/8 Id1, were HPAEC under 1% O2 (hypoxia) 21% (normoxia) as well hypoxia-inducible factor (HIF)-1α expression presence E2 signaling. The effects an estrogen...

10.1253/circj.cj-12-0997 article EN Circulation Journal 2013-01-01

Coincidental cyanotic congenital heart disease and pheochromocytoma is uncommon, although some cases have been reported. We describe a girl aged 15 yr 11 mo with tricuspid atresia treated by performing the Fontan surgery. The patient did not any specific symptoms of syndrome related to pheochromoytoma or family history pheochromocytoma. During cardiac catheterization, her blood pressure increased markedly, an α-blocker was administered. Catecholamine hypersecretion observed in urine,...

10.1297/cpe.25.59 article EN Clinical Pediatric Endocrinology 2016-01-01
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