A5054998216- Autoimmune and Inflammatory Disorders Research
- Immune Cell Function and Interaction
- Renal Diseases and Glomerulopathies
- Kawasaki Disease and Coronary Complications
- Interstitial Lung Diseases and Idiopathic Pulmonary Fibrosis
- Viral gastroenteritis research and epidemiology
- Eosinophilic Disorders and Syndromes
- Immunodeficiency and Autoimmune Disorders
- Inflammasome and immune disorders
- Respiratory viral infections research
- melanin and skin pigmentation
- Viral Infections and Immunology Research
- Inflammatory Myopathies and Dermatomyositis
- Cell Adhesion Molecules Research
- Vasculitis and related conditions
- Complement system in diseases
- Acute Kidney Injury Research
- Pediatric Urology and Nephrology Studies
- Gastroesophageal reflux and treatments
- Bacterial Infections and Vaccines
- Chronic Obstructive Pulmonary Disease (COPD) Research
- Urological Disorders and Treatments
- Renal and related cancers
- Mast cells and histamine
- Systemic Sclerosis and Related Diseases
Kanazawa University
2011-2024
National Human Genome Research Institute
2015-2024
Kanazawa University Hospital
2023-2024
National Institutes of Health
2015-2024
Kanazawa Medical Center
2012-2023
National Hospital Organization
2019-2023
Fukui-ken Saiseikai Hospital
2012-2015
Toyama City Hospital
2012
Industrial Research Institute of Ishikawa
2011
Shizuoka General Hospital
2009
Objectives. To compare the pro-inflammatory cytokine profiles and kinetics in patients with secondary macrophage activation syndrome (MAS) due to systemic-onset juvenile idiopathic arthritis (s-JIA) both active inactive disease states of s-JIA (but no MAS), those demonstrated EBV-induced haemophagocytic lymphohistiocytosis (HLH) Kawasaki (KD), investigate significance IL-18 pathogenesis s-JIA.
Idiopathic pulmonary fibrosis (IPF) is a life-threatening disease without effective treatment, highlighting the need for identifying new targets and treatment modalities. The pathogenesis of IPF complex, engaging multiple simultaneously might improve therapeutic efficacy. To assess role endocannabinoid/cannabinoid receptor 1 (endocannabinoid/CB1R) system in its interaction with inducible nitric oxide synthase (iNOS) as dual targets, we analyzed lung status endocannabinoid/CB1R iNOS mice...
ATP6V1H is a component of large protein complex with vacuolar ATPase (V-ATPase) activity. We identified two generations individuals in which short stature and osteoporosis co-segregated mutation ATP6V1H. Since V-ATPases are highly conserved between human zebrafish, we generated loss-of-function mutants atp6v1h zebrafish through CRISPR/Cas9-mediated gene knockout. Homozygous mutant exhibited severe reduction the number mature calcified bone cells dramatic increase expression mmp9 mmp13....
Background Copa syndrome is a rare autosomal dominant disorder with abnormal intracellular vesicle trafficking. The objective of this work to expand the knowledge about by delineating phenotypic features an unreported COPA family. Methods and results A heterozygous missense variant (c.698 G>A, p.Arg233His) in was identified four members three-generation kindred lung, autoimmune malignant disease unknown aetiology. Ages onset were 56, 26, 16 1 year, earlier age successive generations....
Abstract Primary Epstein–Barr virus (EBV) infection causes infectious mononucleosis and hemophagocytic lymphohistiocytosis (HLH) in children, where EBV infects B CD8 + T cells, respectively. We measured pro‐inflammatory anti‐inflammatory cytokines both diseases. Significantly higher concentrations of various mediators, including interferon‐γ, neopterin, interleukin (IL)‐6, IL‐10, IL‐18, heme oxygenase‐1, were observed EBV‐HLH. Because their similarity to the profile familial HLH, this was...
Pulmonary fibrosis is a progressive interstitial lung disease of unknown aetiology with poor prognosis. Studying genetic diseases associated pulmonary provides insights into the pathogenesis disease. Hermansky-Pudlak syndrome (HPS), rare autosomal recessive disorder characterised by abnormal biogenesis lysosome-related organelles, manifests oculocutaneous albinism and excessive bleeding variable severity. highly prevalent in three out 10 types HPS (HPS-1, HPS-2 HPS-4). Thus, genotyping...
Mitochondrial aminoacyl‐tRNA synthetases (mtARSs) are essential, ubiquitously expressed enzymes that covalently attach amino acids to their corresponding tRNA molecules during translation of mitochondrial genes. Deleterious variants in the mtARS genes cause a diverse array phenotypes, many which involve nervous system. Moreover, distinct mutations mtARSs often different clinical manifestations. Recently, gene encoding tryptophanyl synthetase (WARS2) was reported 2 neurological form autosomal...
Summary Autoimmune thyroid diseases are characterized by intrathyroidal infiltration of CD4+ and CD8+ T lymphocytes reactive to self-thyroid antigens. Early studies analysing cell receptor (TCR) Vα gene usage have shown oligoclonal expansion but not peripheral blood cells. However, TCR Vβ diversity the isolated compartments in has been fully these patients. We performed complementarity-determining region 3 (CDR3) spectratyping as well flow cytometric analysis for repertoire cells from 13...
Introduction: Hermansky-Pudlak syndrome (HPS) is a rare autosomal recessive disorder characterized by defective biogenesis of lysosome-related organelles. The genetic types HPS are associated with spectrum multisystemic clinical manifestations. Phenotypic features type 1 (HPS-1) or HPS-4, which defects in organelles complex-3 (BLOC-3), generally more severe than those HPS-3, HPS-5, HPS-6, BLOC-2. A paucity information available about renal impairment HPS. objective this study to expand the...
The rare lysosomal storage disorder Niemann-Pick disease type C1 (NPC1) arises from mutation of NPC1, which encodes a transmembrane protein essential for normal transport and trafficking cholesterol sphingolipids. NPC1 is highly heterogeneous in both clinical phenotypes age onset. Previous studies have reported sub-Mendelian survival rates mice homozygous various Npc1 mutant alleles but not studied the potential mechanisms underlying this phenotype. We performed first developmental analysis...
<i>Background/Aims:</i> In oxidative stress, heme oxygenase-1 (HO-1) plays a pivotal role in maintaining renal function and protecting structure, especially tubular epithelial cells. We examined urinary HO-1 (uHO-1) levels to assess whether uHO-1 acts as sensitive biomarker for detecting tubulointerstitial inflammatory damage diseases. <i>Methods:</i> Immunohistochemical analyses enzyme-linked immunosorbent assays were performed using 61 urine samples (supernatants...
Mutations in the complement factor H ( CFH ) gene are associated with dysregulation and development of atypical hemolytic uremic syndrome (aHUS). Several fusion genes that result from genomic structural variation H-related CFHR regions have been identified aHUS. However, one allele has both duplication CFH::CFHR1 not reported. An 8-month-old girl (proband) presented aHUS was treated ravulizumab. Her paternal grandfather developed previously her great grandmother anti-neutrophil cytoplasmic...
Infection with Streptococcus pyogenes, a Group A beta-hemolytic streptococcus (GAS), is rare cause of hemolyticuremic syndrome (HUS). Invasive infections pneumoniae that produce neuraminidase are well-recognized HUS without diarrhea. The Thomsen- Friedenreich antigen (T antigen) plays role in the pathophysiology pneumococcal HUS. We describe case 3-year-old boy GAS-associated and show how T-antigen exposure was implicated this case. He had no diarrhea cultures for blood, urine, stool were...
Hermansky-Pudlak syndrome (HPS) is a heterogeneous group of genetic disorders typically manifesting with tyrosinase-positive oculocutaneous albinism, bleeding diathesis, and pulmonary fibrosis, in some subtypes. Most HPS subtypes are associated defects Biogenesis Lysosome-related Organelle Complexes (BLOCs), which groups proteins that function together the formation and/or trafficking lysosomal-related endosomal compartments. BLOC-2, for example, consists HPS3, HPS5, HPS6. Here we present an...
The Wiskott-Aldrich syndrome (WAS) is a rare X-linked primary immunodeficiency characterized by recurrent infections, thrombocytopenia, eczema, and high incidence of malignancy autoimmunity. cellular mechanisms underlying autoimmune complications in WAS have been extensively studied; however, they remain incompletely defined. We investigated the characteristics IL-10-producing CD19+CD1dhighCD5+ B cells (CD1dhighCD5+ Breg) obtained from Was gene knockout (WKO) mice found that their numbers...
Abstract Background Kawasaki disease (KD) is an acute, febrile, systemic vasculitis of unknown etiology that primarily affects the coronary arteries and generally occurs at around 1 year age. Although diagnosis KD not difficult, it challenging in cases incomplete lacking characteristic clinical manifestations. The incidence higher infants younger than 6 months Pneumonia extremely rare complication can be misinterpreted as atypical pneumonia rather KD. Herein, we report a neonate with severe...
We investigated whether pravastatin ameliorates renal damage induced by cisplatin (CP). Forty-three male Wistar rats were divided into four groups: treated with a control diet for 19 days and saline injection on day 14 (group1), group 1 treatment (group 2), CP 3), 2 4). Renal function serum lipids, malondialdehyde (MDA) glutathione (GSH) levels, peroxidase (GPx) mRNA expression activity, kidney triglyceride (TG) concentrations measured. Histology was evaluated light microscopy...
Immunoglobulin A vasculitis (IgAV) is the most common of childhood. However, its etiology remains unknown. In Mediterranean region, 10% patients with IgAV harbor homozygous and compound heterozygous mutations in fever (MEFV) gene. Thus, such may be involved development IgAV. Herein, we present a five-year-old girl presented She experienced prolonged abdominal pain, which was steroid-resistant. When treatment colchicine started, her pain resolved immediately. The serum interleukin (IL)-18...