A5060566448- Metabolism and Genetic Disorders
- Mitochondrial Function and Pathology
- RNA modifications and cancer
- Neonatal Health and Biochemistry
- Congenital Diaphragmatic Hernia Studies
- Amino Acid Enzymes and Metabolism
- Connective tissue disorders research
- Epigenetics and DNA Methylation
- Thyroid Disorders and Treatments
- dental development and anomalies
- Genetic Syndromes and Imprinting
- Cardiomyopathy and Myosin Studies
- Folate and B Vitamins Research
- Genetic factors in colorectal cancer
- Sexual Differentiation and Disorders
- ATP Synthase and ATPases Research
- Neuroblastoma Research and Treatments
- Cancer-related molecular mechanisms research
- Glycogen Storage Diseases and Myoclonus
- Nuclear Structure and Function
- Biomedical Research and Pathophysiology
- Hemophilia Treatment and Research
- Craniofacial Disorders and Treatments
- Intraperitoneal and Appendiceal Malignancies
- Colorectal Cancer Surgical Treatments
Niigata University
2011-2024
Niigata University Medical and Dental Hospital
2016-2024
Saitama Medical University
2016-2019
Mitochondrial disorders have the highest incidence among congenital metabolic characterized by biochemical respiratory chain complex deficiencies. It occurs at a rate of 1 in 5,000 births, and has phenotypic genetic heterogeneity. Mutations about 1,500 nuclear encoded mitochondrial proteins may cause dysfunction energy production disorders. More than 250 genes that been reported to date. However exact diagnosis for patients still remained largely unknown. To reveal this heterogeneity, we...
Omodysplasia-2 (OMOD2; OMIM%16475) is a rare autosomal dominant (AD) skeletal dysplasia characterized by shortened humeri, short first metacarpal, craniofacial dysmorphism (frontal bossing, depressed nasal bridge, bifid tip, and long philtrum), variable degrees of genitourinary anomalies. This clinical phenotype overlaps with that AD type Robinow syndrome. Recently, mutation in FZD2 encoding Frizzled Class Receptor 2 has been identified family omodysplasia (an affected girl her mother)....
ATP13A2 is the autosomal recessive causative gene for juvenile-onset Parkinson's disease (PARK9, 9), also known as Kufor-Rakeb syndrome. The characterized by levodopa-responsive Parkinsonism, supranuclear gaze palsy, spasticity, and dementia. Previously, we have reported that Atp13a2 deficient medaka fish showed dopaminergic neurodegeneration lysosomal dysfunction, indicating lysosome-autophagy impairment might be one of key pathogeneses disease. Here, established zebrafish using CRISPR/Cas9...
Abstract Cardiospondylocarpofacial syndrome (CSCFS) is a congenital malformation characterized by growth retardation, facial features, short toes with carpal and tarsal fusion, extensive posterior neck vertebral heart disease, deafness. Here, we report severe case of CSCFS novel variant, p.Thr187Ile, in MAP3K7 . Thr187 the main phosphorylation site for TGF-beta-activated kinase 1 encoded , this variant may cause significant abnormalities downstream signaling.
Tetratricopeptide repeat protein 37 (TTC37) is a causative gene of trichohepatoenteric syndrome (THES). However, little known about the pathogenesis this disease. Here, we characterize phenotype Drosophila model in which ski3, homolog TTC37, disrupted. The mutant flies are pupal lethal, and lethality partially rescued by transgenic expression wild-type ski3 or human TTC37. larvae show growth retardation, heart arrhythmia, triacylglycerol accumulation, aberrant metabolism glycolysis TCA...
Sapropterin dihydrochloride (SD) may be a new treatment option for women with phenylketonuria (PKU) who plan to become pregnant. We report the first Japanese case of maternal PKU treated SD. The patient was administered SD at 10-20 mg/kg/day, which increased phenylalanine tolerance during pregnancy and lactation. No adverse events occurred, she delivered healthy neonate. Normal growth development child confirms efficacy safety
The authors declare no conflict of interest.
Lynch syndrome-associated endometrial cancer patients often present multiple synchronous tumors and this assessment can affect treatment strategies. We a case of 27-year-old woman with in the uterine corpus, cervix, ovaries who was diagnosed exhibited cervical invasion ovarian metastasis. Her family history suggested syndrome, genetic testing identified variant uncertain significance, MLH1 p.L582H. conducted immunohistochemical staining, microsatellite instability analysis, Sanger sequencing...
GH-releasing peptide-2 (GHRP2) can be used for provocative growth hormone testing (GHT). Since it acts as a powerful stimulus GH secretion, cut-off peak level in GHRP2 loading test (GHRP2T) is higher than other GHT. Nevertheless, data on response at adolescents are limited. This report aimed to investigate levels GHRP2T adolescents.
Abstract Bryant-Li-Bhoj syndrome (BLBS; OMIM # 619720, 619721), caused by germline H3F3A and H3F3B variants encoding histone H3.3, is characterized mild to severe developmental delay, intellectual disability, failure thrive, muscle tone abnormalities, dysmorphic facial features. Here, we present a Japanese patient with novel heterozygous p.A48G variant in , displaying previously unrecognized symptoms of neonatal myoclonus. This case helps broaden the phenotypic spectrum BLBS.
<title>Abstract</title> <bold>Background: </bold>Recently, Newborn screening (NBS) has been extended worldwide to include Lysosomal storage diseases (LSDs) and adrenoleukodystrophy (ALD) as the importance of early diagnosis treatment. In Japan, NBS for LSDs, called expanded NBS, started in Kumamoto prefecture 2006 pilot study. For ALD Aichi Gifu 2021. Expanded LSDs spread increasingly Japan. light this current situation, we considered it is necessary clarify usefulness prevalence each...
Although newborn screening (NBS) for congenital hypothyroidism (CH) in Japan started more than 40 years ago, the prevalence of CH remains unclear. Prevalence estimations among NBS-positive individuals include those with transient and hyperthyrotropinemia, re-evaluation increasing age is necessary to clarify actual incidence. Thus, we re-evaluated incidence permanent CH. Of 106,114 patients who underwent NBS Niigata Prefecture, Japan, between April 2002 March 2006, 116 were examined further...