A5080607369- Connective tissue disorders research
- Bone and Dental Protein Studies
- Parathyroid Disorders and Treatments
- Alkaline Phosphatase Research Studies
- Biochemical and Molecular Research
- Erythrocyte Function and Pathophysiology
- Genetic Syndromes and Imprinting
- Bone health and treatments
- Genetics and Neurodevelopmental Disorders
- Vitamin D Research Studies
- Heterotopic Ossification and Related Conditions
- Medical and Biological Sciences
- Bone health and osteoporosis research
- Fibroblast Growth Factor Research
- Folate and B Vitamins Research
- Mycobacterium research and diagnosis
- Thyroid Disorders and Treatments
- Genetic and Kidney Cyst Diseases
- Bone and Joint Diseases
- Tuberculosis Research and Epidemiology
- Genomics and Rare Diseases
- MicroRNA in disease regulation
- Macrophage Migration Inhibitory Factor
- Infectious Diseases and Tuberculosis
- Hippo pathway signaling and YAP/TAZ
Osaka University
2017-2025
Minoh City Hospital
2014
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...
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...
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...
Cole-Carpenter syndrome is a rare skeletal dysplasia associated with low-bone mass or an osteogenesis imperfecta (OI)-like syndrome. Only 3 and 6 variants in SEC24D have been reported patients type 2 autosomal recessive OI, respectively. We describe 15-year-old Japanese boy short stature of the short-trunk craniofacial abnormalities including ocular proptosis, marked frontal bossing, midface hypoplasia, micrognathia. These features were consistent diagnosis He had mineral density basilar...
Congenital generalized lipodystrophy type 4 (CGL4) is a rare disease caused by mutations in the gene polymerase I and transcript release factor (PTRF), main symptoms of which are systemic reductions adipose tissue muscular dystrophy. The strategy treating CGL4 to improve insulin resistance hypertriglyceridemia that result from tissue. Metreleptin, synthetic analog human leptin, effective against lipodystrophies; however, there no reports use metreleptin treatment CGL4. Herein, we discuss...
Achondroplasia is a rare skeletal dysplasia characterized by rhizomelic short stature, whose prevalence about 1 per 25,000 births. For some patients with achondroplasia, excess body weight one of the major concerns due to an impaired linear growth. Epidemiological studies revealed premature onset cardiovascular or cerebrovascular events in achondroplasia. An association between obesity and cardiometabolic risk factors related remains unknown achondroplasia/hypochondroplasia. This...
Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare, inherited autosomal recessive disorder caused by fibroblast growth factor-23 (FGF23), N-acetylgalactosaminyltransferase 3 (GALNT3), or Klotho (KL) gene variants. Here, we report the case of Japanese boy who presented with mass in his left elbow at age three. Laboratory test results patient revealed normocalcemia (10.3 mg/dL) and hyperphosphatemia (8.7 mg/dL); however, despite hyperphosphatemia, serum intact FGF23 level was low,...
Abstract The COL2A1 gene encodes the alpha‐1 chain of procollagen type 2. Pathogenic variants in are associated with several different types skeletal dysplasia collectively known as 2 collagenopathies. Type collagenopathies have an autosomal dominant inheritance. Some germline or somatogonadal mosaicism cases been reported. We investigated whether occurred a family two children suspected related diseases. First, we detected pathogenic variant affected by whole exome sequencing (WES). Next,...
An elevated serum alkaline phosphatase (ALP) level is one of the markers for presence rickets in children, but it also associated with bone formation. However, its role diagnosing genu varum pediatric patients vitamin D-deficient still unknown. To clarify ALP assessing severity varum, we retrospectively investigated this issue statistically using data on such as intact parathyroid hormone (iPTH), 25-hydroxyvitamin D, 1,25-dihydroxyvitamin ALP, creatinine percentage median according to age...
Monocarboxylate transporter 8 (MCT8) facilitates T3 uptake into cells. Mutations in MCT8 lead to Allan-Herndon-Dudley syndrome (AHDS), which is characterized by severe psychomotor retardation and abnormal thyroid hormone profile. Nine uncharacterized mutations Japanese patients with neurocognitive impairment elevated serum levels were studied regarding the transport of T3. Human (hMCT8) function was wild-type (WT) or mutant hMCT8-transfected human placental choriocarcinoma cells (JEG3)...
Background McCune-Albright syndrome (MAS) is caused by postzygotic somatic mutations of the GNAS gene. It characterized clinical triad fibrous dysplasia, cafe-au-lait skin spots, and endocrinological dysfunction. Myriad complications in MAS, including hepatobiliary manifestations, are also reported. Case summary This a case 4-year-old boy who presented with MAS neonatal cholestasis. He was suspected to have Alagille due cholestasis intrahepatic bile duct paucity liver biopsy, peripheral...
Searchable abstracts of presentations at key conferences on calcified tissues ISSN 2052-1219 (online)
Brachydactyly mental retardation syndrome (BDMR) or chromosome 2q37 deletion is a genetic disorder caused by haploinsufficiency of histone deacetylase 4 (HDAC4). The HDAC4 gene responsible for major BDMR phenotypes. symptoms include mild-to-moderate intellectual disability, seizures, autism spectrum disorder, short stature, obesity, and facial dysmorphism. Here, we report family (n = 5) with who had missense variant HDAC4. Four affected individuals [5-yr-old girl (index case); 15- 3-yr-old...