A5024306261- Renal Diseases and Glomerulopathies
- Renal and related cancers
- Cell Adhesion Molecules Research
- Ion Transport and Channel Regulation
- Platelet Disorders and Treatments
- Genetic and Kidney Cyst Diseases
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Biomedical Research and Pathophysiology
- RNA Research and Splicing
- Vasculitis and related conditions
- Genetic Syndromes and Imprinting
- Amyloidosis: Diagnosis, Treatment, Outcomes
- Electrolyte and hormonal disorders
- Renal cell carcinoma treatment
- Complement system in diseases
- Autoimmune Bullous Skin Diseases
- Pregnancy and Medication Impact
- Chronic Kidney Disease and Diabetes
- Genetics and Neurodevelopmental Disorders
- Lysosomal Storage Disorders Research
- Systemic Lupus Erythematosus Research
- RNA regulation and disease
- RNA and protein synthesis mechanisms
- Pediatric Urology and Nephrology Studies
- Pancreatic function and diabetes
Kobe University
2018-2025
Kobe Institute Of Computing
2023-2024
Japanese Red Cross Nagoya Daini Hospital
2015-2023
Boston Children's Hospital
2022-2023
Harvard University
2023
Boston Children's Museum
2022-2023
Broad Institute
2022-2023
Shizuoka Children's Hospital
2014-2016
National Center For Child Health and Development
2013
Early kidney failure in the hereditary type IV collagen disease, Alport syndrome, can be delayed by renin-angiotensin inhibitors. However, whether all patients and different genotypes respond equally well to this kidney-protective therapy remains unclear. Here, we performed a retrospective study on 430 with male X-linked syndrome examine relationships among prognosis, genotype, treatment effect large cohort of Japanese patients. We analyzed clinical features, genotype-phenotype correlation,...
Numerous disease-causing gene mutations have been identified in proteinuric diseases, such as nephrotic syndrome and glomerulosclerosis. This report describes the results of comprehensive genetic diagnosis Japanese patients with severe proteinuria. In addition, clinical characteristics monogenic mutations. We conducted screening who had either congenital syndrome, infantile steroid-resistant or focal segmental glomerular sclerosis. Using targeted next-generation sequencing, 60...
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...
Gitelman syndrome (GS) is a tubulopathy exhibited by salt loss. GS cases are most often diagnosed chance blood test. Aside from that, some also tetanic symptoms associated with hypokalemia and/or hypomagnesemia or short stature. As for complications, thyroid dysfunction and stature known, but the incidence rates these complications have not yet been elucidated. In addition, no genotype-phenotype correlation has identified in GS.We examined clinical characteristics genetically proven...
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...
Abstract Gitelman syndrome is an autosomal recessive inherited salt-losing tubulopathy. It has a prevalence of around 1 in 40,000 people, and heterozygous carriers are estimated at approximately 1%, although the exact unknown. We predicted based on multiple genome databases, HGVD jMorp for Japanese population gnomAD other ethnicities, included all 274 pathogenic missense or nonsense variants registered HGMD Professional. The frequencies these alleles were summed to calculate total variant...
Abstract Systemic lupus erythematosus (SLE) can present with various symptoms, including rare manifestations such as gangrene. This report describes a 12-year-old girl SLE who presented intermittent claudication and Although is in paediatric cases, it essential to consider vascular diseases those associated potential cause. The patient initially experienced pain, redness, cold sensations the right great toe accompanied by claudication, symptoms worsening over time. Diagnostic imaging,...
Abstract Background Autosomal dominant tubulointerstitial kidney disease (ADTKD) is characterized by tubular atrophy, interstitial fibrosis, and progressive dysfunction. Its causative genes include UMOD, MUC1, REN, HNF1B , SEC61A1 . ADTKD contributes to unexplained chronic (CKD), many cases remain genetically undiagnosed. This study aimed elucidate the clinical features of patients diagnosed with in Japan. Methods We included individuals suspected congenital anomalies urinary tract,...
Abstract Background More than half of patients with congenital nephrotic syndrome (CNS) or infantile (infantile NS) have a monogenic aetiology. This study aimed to clarify differences in the clinical course, genetic background, and genotype–phenotype correlation between CNS NS. Methods We enrolled who were diagnosed NS referred our hospital for analysis investigated characteristics background identified causative genes. Results Among 74 enrolled, disease-causing variants detected 50...
Autosomal dominant tubulointerstitial kidney disease (ADTKD)-MUC1 is predominantly caused by frameshift mutations owing to a single-base insertion into the variable number tandem repeat (VNTR) region in MUC1. Because of complexity variant hotspot, identification using short-read sequencers (SRSs) challenging. Although recent studies have revealed usefulness long-read (LRSs), prevalence MUC1 variants patients with clinically suspected ADTKD remains unknown. We aimed clarify this and genetic...
Abstract Background Membranoproliferative glomerulonephritis (MPGN) can be divided into immune-complex MPGN (IC-MPGN) and C3 glomerulopathy (C3G), which includes dense deposit disease (DDD) (C3GN). These conditions result from abnormalities in different complement pathways may lead to prognoses. However, there are limited studies describing the respective clinical courses. Methods In this study, Japanese pediatric patients diagnosed with based on kidney biopsies conducted between February...
In patients with steroid-resistant nephrotic syndrome (SRNS), the presence of monogenic variants influences therapeutic strategies. Large cohort studies reported detection in approximately 30% SRNS. However, these cohorts included many patients, such as those symptomatic proteinuria, who did not meet strict diagnostic criteria for pediatric (NS). Therefore, we investigated proportion causative detected strictly met SRNS and explored their clinical characteristics.
Abstract Background Alport syndrome (AS) is a hereditary disease caused by mutations in COL4A3‐5 genes. Recently, comprehensive genetic analysis has become the first‐line diagnostic tool for AS. However, no reports comparing mutation identification rates between conventional sequencing and screening have been published. Methods In this study, 441 patients clinically suspected of having AS were divided into two groups compared. The initial mutational method involved targeted exome using...
Frasier syndrome (FS) is a rare inherited kidney disease caused by intron 9 splicing variants of WT1. For wild-type WT1, 2 active splice donor sites in cause mixture essential transcripts (with or without lysine-threonine-serine [+/KTS -KTS]), and imbalance the +KTS/-KTS ratio results development FS. To date, 6 causative have been identified; however, detailed transcript analysis has not yet conducted genotype-phenotype correlation also remains to be elucidated.We an vitro minigene assay for...
COL4A5 is a causative gene of X-linked Alport syndrome (XLAS). Male patients with XLAS nonsense variants have the most severe phenotypes early onset end-stage kidney disease (ESKD); those splicing middle and missense mildest phenotypes. Therefore, genotyping for male can be used to predict prognosis. Single-base substitutions at last nucleotide position in each exon are known affect patterns could variants. Nevertheless, XLAS, these generally considered variants, without conducting...