A5036822255- Renal Diseases and Glomerulopathies
- Renal and related cancers
- Cell Adhesion Molecules Research
- Platelet Disorders and Treatments
- Ion Transport and Channel Regulation
- Chronic Kidney Disease and Diabetes
- Autoimmune Bullous Skin Diseases
- Coagulation, Bradykinin, Polyphosphates, and Angioedema
- Neonatal Health and Biochemistry
- Genetic and Kidney Cyst Diseases
- Muscle Physiology and Disorders
- RNA Research and Splicing
- Infectious Encephalopathies and Encephalitis
- Metabolism and Genetic Disorders
- Pregnancy and Medication Impact
- Cytomegalovirus and herpesvirus research
- RNA modifications and cancer
- Neurogenetic and Muscular Disorders Research
- Vasculitis and related conditions
- Neonatal Respiratory Health Research
- Complement system in diseases
- Genetic Syndromes and Imprinting
- Connective tissue disorders research
- Ion channel regulation and function
- Systemic Lupus Erythematosus Research
Kobe University
2016-2025
Kobe Children's Hospital
1988-2025
Jumonji University
2025
Kobe Institute Of Computing
2020-2024
Boise Kidney & Hypertension Institute
2022
Indiana University – Purdue University Indianapolis
2022
Karolinska Institutet
2022
Nagoya University
2020
Tokyo Metropolitan Children's Medical Center
2015-2020
Toho University
2020
In this multicenter, open-label, randomized controlled trial, we determined whether 2-month prednisolone therapy for steroid-sensitive nephrotic syndrome was inferior or not to 6-month despite significantly less steroid exposure. The primary end point time from start of initial treatment frequently relapsing syndrome. pre-specified non-inferiority margin a hazard ratio 1.3 with one-sided significance 5%. We randomly assigned 255 children an episode either 2 - which 246 were eligible final...
Background and objectives Alport syndrome comprises a group of inherited heterogeneous disorders involving CKD, hearing loss, ocular abnormalities. Autosomal dominant caused by heterozygous mutations in collagen 4A3 and/or 4A4 accounts for <5% patients. However, the clinical, genetic, pathologic backgrounds patients with autosomal remain unclear. Design, setting, participants, & measurements We conducted retrospective analysis 25 genetically proven their family members (a total 72...
No efficient treatment exists for nephrotic syndrome (NS), a frequent cause of chronic kidney disease. Here we show mutations in six different genes (MAGI2, TNS2, DLC1, CDK20, ITSN1, ITSN2) as causing NS 17 families with partially treatment-sensitive (pTSNS). These proteins interact and delineate their roles Rho-like small GTPase (RLSG) activity, demonstrate deficiency mutants pTSNS patients. We find that CDK20 regulates DLC1. Knockdown MAGI2, or cultured podocytes reduces migration rate....
Clinical severity of alternating hemiplegia childhood (AHC) is extremely variable. To investigate genotype-phenotype correlations in AHC, we analyzed the clinical information and ATP1A3 mutations patients with AHC.Thirty-five Japanese who were clinically diagnosed AHC participated this study. using Sanger sequencing. Detailed was collected from family members clinicians responsible for their care.Gene analysis revealed 33 de novo heterozygous missense ATP1A3: Glu815Lys 12 cases (36%),...
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,...
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,...
A previous trial showed that treatment of children with severe IgA nephropathy (IgAN) using prednisolone, azathioprine, heparin-warfarin, and dipyridamole for 2 yr early in the course disease reduced severity immunologic renal injury prevented any increase percentage sclerosed glomeruli. This study compared effects warfarin, (combination) those prednisolone alone 80 newly diagnosed IgAN diffuse mesangial proliferation. Patients were randomly assigned to receive either combination or yr. The...