A5036487527- Renal Diseases and Glomerulopathies
- Renal and related cancers
- Pediatric Urology and Nephrology Studies
- Prenatal Screening and Diagnostics
- Genetic and Kidney Cyst Diseases
- Renal Transplantation Outcomes and Treatments
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Renal and Vascular Pathologies
- Systemic Lupus Erythematosus Research
- Ion Transport and Channel Regulation
- Chronic Kidney Disease and Diabetes
- Tuberous Sclerosis Complex Research
- Pancreatic function and diabetes
- Congenital Anomalies and Fetal Surgery
- Urological Disorders and Treatments
- Sexual Differentiation and Disorders
- Streptococcal Infections and Treatments
- Autoimmune Bullous Skin Diseases
- Extracellular vesicles in disease
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Viral-associated cancers and disorders
- Ion Channels and Receptors
- Genetic Syndromes and Imprinting
- Vasculitis and related conditions
- Blood properties and coagulation
The University of Tokyo
2014-2025
University of Tokyo Hospital
2023-2024
Tokyo Women's Medical University
2015-2023
Ome Municipal General Hospital
2007-2023
Bunkyo University
2023
Kobe University
2007-2020
Pediatric Nephrology of Alabama
2019
Japan Society for the Promotion of Science
2011
Kumamoto University
2011
Wakayama Medical University
2007
Possible roles of anti-nephrin antibodies in post-transplant recurrent focal segmental glomerulosclerosis (FSGS) have been reported recently. To confirm these preliminary results, we performed a multi-institutional study 22 Japanese pediatric kidney transplant recipients with FSGS including eight genetic and 14 non-genetic (presumed primary) FSGS. Eleven the patients had Median (interquartile range) plasma levels measured using ELISA were markedly high at 899 (831, 1292) U/mL (cutoff 231...
The balanced self-renewal and differentiation of nephron progenitors are critical for kidney development controlled, in part, by the transcription factor Six2, which antagonizes canonical Wnt signaling-mediated differentiation. A nuclear factor, Sall1, is expressed Six2-positive as well differentiating nascent nephrons, it essential formation. However, molecular functions targets especially progenitors, remain unknown. Here, we report that Sall1 deletion results severe progenitor depletion...
Abstract Currently, there are no treatments for Alport syndrome, which is the second most commonly inherited kidney disease. Here we report development of an exon-skipping therapy using antisense-oligonucleotide (ASO) severe male X-linked syndrome (XLAS). We targeted truncating variants in exon 21 COL4A5 gene and conducted a type IV collagen α3/α4/α5 chain triple helix formation assay, vitro vivo treatment efficacy evaluation. show that skipping enabled trimer formation, leading to...
Transient receptor potential canonicals (TRPCs) play important roles in the regulation of intracellular calcium concentration. Mutations TRPC6 gene are found patients with focal segmental glomerulosclerosis (FSGS), a proteinuric disease characterized by dysregulated function renal glomerular epithelial cells (podocytes). There is as yet no clear picture for activation mechanism at molecular basis, however, and association between its channel activity pathogenesis remains unclear. We...
To understand the genetics of steroid-sensitive nephrotic syndrome (SSNS), we conducted a genome-wide association study in 987 childhood SSNS patients and 3,206 healthy controls with Japanese ancestry. Beyond known associations HLA-DR/DQ region, common variants NPHS1-KIRREL2 (rs56117924, P=4.94E-20, odds ratio (OR) =1.90) TNFSF15 (rs6478109, P=2.54E-8, OR=0.72) regions achieved significance were replicated Korean, South Asian African populations. Trans-ethnic meta-analyses including...
Amoxicillin-associated rash is a well-documented phenomenon in Epstein-Barr virus (EBV)-related infectious mononucleosis. This case highlights notable course where amoxicillin was administered during the latent phase of EBV infection, and characteristic appeared following clinical onset A seven-year-old girl received for acute otitis media EBV's phase. After developing fever, conjunctival injection, lip redness, cervical lymphadenopathy, generalized rash, she initially diagnosed with...
Microscopic hematuria is one of the most common findings in urinalysis screening. While some cases may be clinically significant, such as early-stage glomerulonephritis, majority are limited clinical significance, including asymptomatic hematuria. We report a case where microscopic was first detected at age 3 and became more pronounced 15, leading to further evaluation. Imaging studies revealed rare congenital vascular anomaly, double inferior vena cava, with narrowing junction left renal...
Mutations in either cubilin (CUBN) or amnionless (AMN) genes cause Imerslund-Gräsbeck syndrome (IGS), a hereditary disease characterised by anaemia attributed to selective intestinal malabsorption of cobalamin and low-molecular weight proteinuria. Although protein does not have transmembrane segment, it functions as multi-ligand receptor binding the protein, amnionless. We established system quantitatively analyse membrane targeting complex cultured renal cells analysed pathogenic mechanisms...
Leucine aminopeptidase was purified from human liver cytosol to homogeneity, 1538-fold, with a yield of 84.4% by immunoaffinity chromatography. Increases in the activity and stability enzyme were simultaneously observed during purification procedure, suggesting presence some endogenous inhibitor cytosol. The specific Km value for L-leucine amide found be 58.00 mumol/min/mg protein 4.02 mM, respectively, at pH 8.0. molecular weight determined 360,000 both polyacrylamide gradient gel...
Congenital disorders characterized by the quantitative and qualitative reduction in number of functional nephrons are primary cause chronic kidney disease (CKD) children. We aimed to describe alteration urinary extracellular vesicles (uEVs) associated with decreased renal function during childhood. By nanoparticle tracking analysis proteomics, we identified differentially expressed proteins uEVs bilateral hypoplasia, which is a congenitally reduced nephrons. This expression signature...
The slit diaphragm (SD) is an intercellular junction between renal glomerular epithelial cells (podocytes) that essential for permselectivity in ultrafiltration. SD components, nephrin and Neph1, assemble a signaling complex tyrosine phosphorylation dependent manner, regulate the unique actin cytoskeleton of podocytes. Mutations NPHS1 gene encodes cause congenital nephrotic syndrome (CNS), which characterized by loss massive proteinuria. Recently, we have identified expression transmembrane...
During the last decade, several key molecules have been identified as essential components for filtration barrier function of kidney glomerular podocytes. Mutations in genes encoding these severely impair podocyte architecture affected patients, leading to development proteinuria. Extensive investigations performed on molecules, which highlights importance tyrosine kinase signaling An Src family kinase, Fyn, plays a major role this pathway. Here, we review current understanding important...
Abstract CAKUT are the most frequent causes of ESRD in children. Mutations gene encoding HNF 1B , a transcription factor involved organ development and maintenance, cause multisystem disorder that includes diabetes, liver dysfunction. Here, we describe case patient with renal hypodysplasia who developed NODAT presenting The was initially thought to be steroid FK related. However, based on patient's clinical features, including recurrent elevations transaminase, screening for an mutation...