A5001345473- Genomic variations and chromosomal abnormalities
- Adipokines, Inflammation, and Metabolic Diseases
- Obesity, Physical Activity, Diet
- Lipoproteins and Cardiovascular Health
- Diabetes, Cardiovascular Risks, and Lipoproteins
- Peroxisome Proliferator-Activated Receptors
- Regulation of Appetite and Obesity
- Metabolism and Genetic Disorders
- Connective tissue disorders research
- Neurosurgical Procedures and Complications
- Cell Adhesion Molecules Research
- Genetic Syndromes and Imprinting
- Body Composition Measurement Techniques
- Traumatic Brain Injury and Neurovascular Disturbances
- Adipose Tissue and Metabolism
- Bone health and treatments
- Neutrophil, Myeloperoxidase and Oxidative Mechanisms
- Vascular Malformations and Hemangiomas
- Congenital heart defects research
- Protein Tyrosine Phosphatases
- RNA regulation and disease
- RNA modifications and cancer
- Neonatal Respiratory Health Research
- Nitric Oxide and Endothelin Effects
- Urological Disorders and Treatments
University of Yamanashi Hospital
1997-2023
University of Yamanashi
2012-2022
National Human Genome Research Institute
2004-2005
National Institutes of Health
2004-2005
Shinshu University Hospital
2000
Shinshu University
2000
Ichinomiya Municipal City Hospital
1983
Abstract Objective : To determine whether serum adiponectin is decreased in obesity and restored toward normal level after treatment children. Research Methods Procedures Subjects were 53 Japanese obese children, 33 boys 20 girls (6 to 14 years old), 30 age‐matched nonobese controls for measuring (16 girls). Blood was drawn an overnight fast, the children subjected anthropometric measurements including waist hip circumferences skinfold thicknesses. Paired samples obtained from 21 who...
Transcription factors operate in developmental processes to mediate inductive events and cell competence, perturbation of their function or regulation can dramatically affect morphogenesis, organogenesis, growth. We report that a narrow spectrum amino-acid substitutions within the transactivation domain v-maf avian musculoaponeurotic fibrosarcoma oncogene homolog (MAF), leucine zipper-containing transcription factor AP1 superfamily, profoundly development. Seven different de novo missense...
The identification of causative genetic variants for hereditary diseases has revolutionized clinical medicine and an extensive collaborative framework with international cooperation become a global trend to understand rare disorders. Initiative on Rare Undiagnosed Diseases (IRUD) was established in Japan provide accurate diagnosis, discover causes, ultimately cures undiagnosed diseases. fundamental IRUD system consists three pillars: diagnostic coordination, analysis centers (IRUD-ACs), data...
Background Musculocontractural Ehlers−Danlos syndrome is caused by biallelic loss-of-function variants in CHST14 (mcEDS- ) or DSE ). Although 48 patients 33 families with mcEDS- have been reported, the spectrum of pathogenic variants, accurate prevalence various manifestations and detailed natural history not systematically investigated. Methods We collected comprehensive clinical molecular information regarding previously reported newly identified through international collaborations....
Abstract Objective: To determine whether serum cholesteryl ester transfer protein (CETP), which is one of the physiologically active gene products secreted from adipose tissue, increased and associated with atherogenic lipoprotein profile in obese children. Research Methods Procedures: Subjects were 42 consecutive outpatient Japanese children, 29 boys 13 girls, ranging age 5 to 14 years, 25 age‐matched non‐obese 12 as control group for measuring CETP mass. Blood was drawn after an overnight...
Childhood thrombocytopenias include immune thrombocytopenic purpura (ITP) and inherited thrombocytopenia; the former is caused by autoantibodies to platelets, whereas latter can be distinguished platelet size underlying genetic mutations. Due limited methods for definite diagnosis of ITP, clinical parameters are required diagnosing with small or normal-sized platelets.In total, 32 Japanese patients thrombocytopenia platelets from 29 families were enrolled. All under 20 years age, family...
To determine the effect of obesity on expression cellular- (C-) and extracellular (EC-) glutathione peroxidase (GPX) in serum, kidney adipose tissue, we measured GPX kidneys tissue obese Otsuka-Long-Evans-Tokushima Fatty (OLETF) rat its lean counterpart (LETO). We also investigated troglitazone. Five each OLETF LETO rats were fed diet with or without 0.2% troglitazone for 10 days. Final body weight, blood glucose serum tumor necrosis factor-α (TNF-α) level higher than rats. Serum activities...
Abstract Duplications of Xq28 harboring the methyl CpG binding protein 2 ( MECP2 ) gene explain approximately 1% X‐linked intellectual disability (XLID). The common clinical features observed in patients with dup(X)(q28) are severe ID, infantile hypotonia, mild dysmorphic and a history recurrent infections, duplication syndrome is now recognized as entity. While some this have other characteristic phenotypes, reason for spectrum phenotypes has not been clarified. Since rearrangements vary...
Dysspondyloenchondromatosis (DSC) is a rare skeletal dysplasia that has currently been classified into the group of spondylometaphyseal dysplasias. To date, only 12 affected individuals have reported. All cases are sporadic, and etiology remains unknown. Distinctive features DSC anisospondyly enchondroma-like lesions in metaphyseal diaphyseal portions long tubular bones. Affected usually develop kyphoscoliosis asymmetric limb shortening at an early age. Interestingly, some changes overlap...
To determine effect of nitric oxide (NO) on cellular glutathione peroxidase (GPX) level in living cells, we measured the activity, protein and mRNA GPX rat kidney (KNRK) cells under a high NO condition. Combined treatment lipopolysaccharide (LPS, 1 microgram/ml) tumor necrosis factor-alpha (TNF-alpha, 50 ng/ml) synergistically enhanced (23-folds) nitrite production from KNRK cells. This was suppressed by an inducible synthase (iNOS) inhibitor (aminoguanidine, N-nitro-L-arginine methylester...
It has been hypothesized that two mutations in one gene are not sufficient and three between genes required for penetrance some cases of Bardet–Biedl syndrome (the so-called "triallelic inheritance" model). McKusick–Kaufman (MKS) is allelic to form (BBS). We describe an Amish family with MKS, where children were affected homozygous MKKS (BBS6) (H84Y A242S on both alleles), their father was a carrier, mother the same mutations, but she non-penetrant. Genotyping and/or sequencing BBS1, BBS2,...
Acute lymphoblastic leukemia (ALL) with mixed lineage (MLL) gene rearrangements (MLL+ALL) has a dismal prognosis and is characterized by high surface CD44 expression. Known that the specific binding sites for natural ligand hyaluronan (HA), we investigated biological effects of HA different molecular sizes on MLL+ALL cell lines, found addition ultra-low-molecular-weight (ULMW)-HA strongly suppressed their thymidine uptakes. The line lacking expression established genome editing showed no...
Abstract Background: Sitosterolemia is a rare lipid metabolism disorder that involves storage of plant sterols. This disease associated with atherosclerosis, but detailed vascular endothelial assessment difficult. Case presentation: We report 5-year-old girl sitosterolemia who presented xanthomas at 23 months age. Her total cholesterol was 868 mg/dL, and her plasma sitosterol level 9.48 mg/dL. Direct sequencing detected homozygous mutation in gene Conclusions: unique which it difficult to...
We report a 19-year-old, non-Amish Caucasian female patient with primary amenorrhea caused by complete lack of Müllerian fusion vaginal agenesis or aplasia (MA), postaxial polydactyly (PAP), and tetralogy Fallot. The genital tract anomaly MA without renal skeletal anomalies comprises Mayer-Rokitansky-Kuster-Hauser syndrome, which has not been reported phenotypic triad most closely resembled McKusick-Kaufman syndrome (MKS; OMIM 236700), rare multiple congenital comprised hydrometrocolpos...
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