Yoshiki Seino

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Previously we showed reduced protein and mRNA expression of the SHP1 gene in lymphoma/leukemia cell lines and patient specimens by Northern blot, RT-PCR, Western blot, and immunohistochemical analyses. In this study, aberrant methylation in the SHP1 gene promoter was detected in many B-cell leukemia/lymphoma cell lines as well as in patient specimens,(More)
Skeletal development consists of the following steps: skeletal patterning, mesenchymal differentiation, bone growth, and homeostasis. In the early phase of embryogenesis, immature mesenchymal cells gather in the proper position, and the anteroposterior and dorsoventral axes are determined. This ‘‘skeletal patterning’’ is followed by ‘‘differentiation’’ of(More)
The most frequent type of rhizomelic dwarfism, achondroplasia (ACH), is caused by mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. Mutations in FGFR3 result in skeletal dysplasias of variable severity, including mild phenotypic effects in hypochondroplasia (HCH), severe phenotypic effects in thanatophoric dysplasia types I (TDI) and II(More)
We previously reported the effects of cyclic therapy with etidronate (CTE) on periprosthetic bone mineral density (BMD) after cementless total hip arthroplasty (THA). This study aimed to evaluate the effects of withdrawal and intervention of CTE after cementless THA. The control group consisted of 24 patients without osteoactive drugs. Sixteen patients(More)
This study was designed to explore whether it was possible to evaluate the severity of VSD, PDA, and ASD by measuring brain natriuretic peptide (BNP) levels. We also investigated normal BNP levels in children to provide a baseline for our study. We measured BNP levels in 253 normal children, including 11 normal neonates, and in 91 VSD patients, 29 PDA(More)
INTRODUCTION Achondroplasia (Ach), the most common form of short-limb short stature, and related disorders are caused by constitutively active point mutations in the fibroblast growth factor receptor 3 (FGFR3) gene. Recent studies have provided a large body of evidence for the role of the proliferation and differentiation of chondrocytes in these disorders.(More)
BACKGROUND Osteogenesis imperfecta (OI) is an autosomal dominant disorder of connective tissue characterized by bone fragility and low bone mass. COL1A1 and COL1A2 genes are very large and have been rarely analyzed systematically in Japan. The aim of this project was to develop an effective and convenient method of finding mutations in the COL1A1 and COL1A2(More)
The objective of this study was to investigate the effect of administration of recombinant human growth hormone (hGH) in patients with Noonan syndrome. hGH was administered (0.5 IU/kg/week) to 15 patients with Noonan syndrome over a 2 year period. Average patient age prior to therapy was 7.5 +/- 2.5 (mean +/- SD) yr, the height SD score was -2.8 +/- 0.7,(More)
We describe a family in which autosomal dominant congenital cataract and microphthalmia were segregating together with a reciprocal translocation t(2; 16) (p22.3;p13.3) through three generations. This family included four individuals with balanced translocations, three with partial trisomy 2p derived from this translocation, and two with a normal karyotype.(More)
Eight normal subjects and 4 children with osteogenesis imperfecta were administered salmon calcitonin (S-CT) intranasally, and the phamacokinetics of S-CT were studied. In the normal subjects, the plasma S-CT concentration showed a dose-dependent increase over a dosage range of 200–400 IU. Maximal plasma concentrations were reached 20–60 min after(More)