A5039072950- Parathyroid Disorders and Treatments
- Connective tissue disorders research
- Genetic Syndromes and Imprinting
- Alkaline Phosphatase Research Studies
- Fibroblast Growth Factor Research
- Bone health and treatments
- Heterotopic Ossification and Related Conditions
- Bone and Dental Protein Studies
- Bone health and osteoporosis research
- Vitamin D Research Studies
- Bone Metabolism and Diseases
- Peptidase Inhibition and Analysis
- Medical Imaging and Pathology Studies
- Genetics and Neurodevelopmental Disorders
- Growth Hormone and Insulin-like Growth Factors
- Medical and Biological Sciences
- Congenital heart defects research
- Erythrocyte Function and Pathophysiology
- Cancer-related Molecular Pathways
- Cell Adhesion Molecules Research
- Biochemical and Molecular Research
- Histone Deacetylase Inhibitors Research
- Bone Tumor Diagnosis and Treatments
- Renal and related cancers
- Magnesium in Health and Disease
Osaka University
2016-2025
Indiana University – Purdue University Indianapolis
2016-2020
The Task Force for Global Health
2020
Minoh City Hospital
2007-2019
Osaka Medical Center for Cancer and Cardiovascular Diseases
2010-2016
Indiana University School of Medicine
2016
Graduate School USA
2014
We describe a three-generation family with tall stature, scoliosis and macrodactyly of the great toes heterozygous p.Val883Met mutation in Npr2, gene that encodes CNP receptor NPR2 (natriuretic peptide 2). When expressed HEK293A cells, mutant Npr2 cDNA generated intracellular cGMP (cyclic guanosine monophosphate) absence ligand. In presence CNP, production was greater cells had been transfected compared to wild-type cDNA. Transgenic mice which chondrocytes driven by promoter intronic...
The 2004 edition of guidelines on the management and treatment glucocorticoid-induced osteoporosis Japanese Society for Bone Mineral Research had been developed based results a longitudinal study by subcommittee members an analysis patients collected Subcommittee to Study Diagnostic Criteria Corticosteroid-Induced Osteoporosis, together with evidence obtained overseas in Japan at 2004. This guideline is now going be revised. In this review, I want introduce history American College...
Abstract Fibroblast growth factor 23 (FGF23) is a phosphaturic hormone produced by bone and exerts its function in the target organs binding FGF receptor (FGFR) Klotho. Since recent studies suggested that extracellular inorganic phosphate (Pi) itself triggers signal transduction regulates gene expression some cell types, we tested notion Pi induces cells of FGF23 also influences signaling, utilizing human embryonic kidney line HEK293. HEK293 expressed low levels klotho , treatment with...
Fetal serum levels of calcium and phosphate are higher than those in the maternal levels. Although α-Klotho is known to participate metabolism adults, its role perinatal period remains unknown.This study aimed determine baseline soluble fetuses compare them with neonates, mothers, adults clarify whether involved fetal-specific regulation metabolism.We conducted a cross-sectional evaluation healthy babies (at birth and/or at 4 d after birth), their adult volunteers one hospital.Twenty-one (23...
Osteocytes express multiple genes involved in mineral metabolism including PHEX, FGF23, DMP1 and FAM20C. In Hyp mice, a murine model for X-linked hypophosphatemia (XLH), Phex deficiency results the overproduction of FGF23 osteocytes, which leads to impaired vitamin D metabolism. this study, further clarify abnormality osteocytes we obtained detailed gene expression profiles osteoblasts isolated from long bones 20-week-old mice wild-type (WT) control mice. The Fgf23, Dmp1, Fam20c was higher...
Hypophosphatasia (HPP) is a rare bone disease caused by inactivating mutations in the ALPL gene, which encodes tissue-nonspecific alkaline phosphatase (TNSALP). Patients with HPP have varied clinical manifestations and are classified based on age of onset severity. Recently, enzyme replacement therapy using bone-targeted recombinant (ALP) has been developed, leading to improvement prognosis patients life-threatening HPP. Considering these recent advances, practice guidelines generated...
Achondroplasia (ACH) is a skeletal dysplasia that presents with limb shortening, short stature, and characteristic facial configuration. ACH caused by mutations of the FGFR3 gene, leading to constantly activated activation its downstream intracellular signaling pathway. This results in suppression chondrocyte differentiation proliferation, which turn impairs endochondral ossification causes short-limb stature. also clinical symptoms, including foramen magnum narrowing, ventricular...
Abstract Objective Somapacitan is a long‐acting growth hormone (GH) derivative developed for the treatment of GH deficiency (GHD). This study evaluates efficacy and tolerability somapacitan in Japanese children with GHD after 104 weeks switch from daily GH. Design Subanalysis on patients randomised, open‐labelled, controlled parallel‐group phase 3 trial (REAL4, NCT03811535). Patients Measurements Thirty treatment‐naïve were randomised 2:1 to (0.16 mg/kg/week) or (0.034 mg/kg/day) up Week 52,...
ABSTRACT Fibroblast growth factor 23 (FGF23) functions in an endocrine fashion and requires α-Klotho to exert its effects on the target organs. We have recently demonstrated that human placenta also expresses α-Klotho, which led us hypothesize FGF23 may placenta. Immunohistochemical analysis expression of FGF receptor 1 (FGFR1) as well feto-maternal interface both mouse normal-term placentas, suggested these areas might be receptive FGF23. Therefore, we next investigated whether has some...
Paget's disease (PD) is characterized by focal and dramatic bone resorption formation. Treatments that target osteoclasts (OCLs) block both pagetic formation; therefore, PD offers key insights into mechanisms couple Here, we evaluated OCLs from 3 patients with determined measles virus nucleocapsid protein (MVNP) was expressed in 70% of these OCLs. Moreover, transgenic mice OCL-specific expression MVNP (MVNP mice) developed PD-like lesions required MVNP-dependent induction high IL-6 levels In...
Osteogenesis imperfecta (OI) is a heritable brittle bone disease mainly caused by mutations in the two type I collagen genes. Collagen synthesis complex process including trimer formation, glycosylation, secretion, extracellular matrix (ECM) and mineralization. Using OI patient-derived fibroblasts induced pluripotent stem cells (iPSCs), we investigated effect of 4-phenylbutyric acid (4-PBA) on to test its potential as new treatment for OI. Endoplasmic reticulum (ER) retention was observed...
The C‐type natriuretic peptide (CNP)–natriuretic receptor 2 (NPR2) signaling pathway plays an important role in chondrocyte development. Homozygous loss‐of‐function mutations of the NPR2 gene cause acromesomelic dysplasia, type Maroteaux (AMDM). aim this study was to identify and characterize patients with AMDM. sequenced three Korean AMDM functional analysis mutated proteins performed vitro. Five novel were found patients: two compound heterozygous [c.1231T>C (Tyr411His) c.2761C>T...
Osteogenesis imperfecta (OI) is a hereditary skeletal disease characterized by bone fragility. Areal mineral density (BMD), evaluated dual-energy X-ray absorptiometry (DXA), used to assess brittleness. The height-adjusted BMD Z-score (BMDHAZ) calculated in children and adolescents with OI reduce the confounding factor of short stature. However, even BMDHAZ, severity evaluation challenging because certain abnormalities quality cannot be accurately assessed analysis. trabecular scores (TBS)...
Vitamin D-deficient rickets (DR) has recently re-emerged among developed countries. D deficiency can influence biochemical results of patients with fibroblast growth factor 23 (FGF23)-related hereditary hypophosphatemic (HR), making differential diagnosis difficult. In the present study we evaluated utility serum FGF23 levels in DR and during its treatment.The group comprised 24 children 8 HR. Serum bone metabolism-related measurements were assessed.Serum less than 19 pg/ml, while those HR...
To elucidate mutation spectrum and genotype-phenotype correlations in Japanese patients with OI, we conducted comprehensive genetic analyses using NGS, as this had not been analyzed comprehensively patient population. Most mutations were located on COL1A1 COL1A2. Glycine substitutions resulted the severe phenotype.Most cases of osteogenesis imperfecta (OI) are caused by or COL1A2, which encode α chains type I collagen. However, at least 16 other genes also cause OI. The OI has analyzed, it...
The serum levels of calcium (Ca) and phosphate are maintained higher in the fetus than pregnant mother, especially late gestation, to meet demands fetal bone development. In order maintain this stage-specific mineral homeostasis, placenta plays a critical role through active transcellular transport. Although molecular mechanism transplacental Ca transport has been well studied, little is known about magnesium. Maternal homeostasis also altered during pregnancy supply minerals fetus....
X-linked hypophosphatemic rickets (XLH) is an inheritable type of caused by inactivating variants in the phosphate regulating endopeptidase homolog (PHEX) gene, which results overproduction fibroblast growth factor 23 (FGF23). The mechanism PHEX impairment leads to FGF23 unknown. Because little known regarding genotype–phenotype correlation Japanese XLH, we summarized available clinical and genetic data analyzed relationships using 3-dimensional (3D) structure modeling clarify XLH...