Searchable abstracts of presentations at key conferences on calcified tissues

ba0007oc13 | (1) | ICCBH2019

Analysis of osteogenesis imperfecta in pathology and the effects of 4-phenylbutyric acid using patient-derived fibroblasts and induced pluripotent stem cells

Takeyari Shinji , Ohata Yasuhisa , Kubota Takuo , Taga Yuki , Mizuno Kazunori , Ozono Keiichi

Objectives: Osteogenesis Imperfecta (OI) is a heritable brittle bone disease mainly caused by mutation of COL1A1 or COL1A2. Treatment with bisphosphonate is not effective enough in patients with severe OI. 4-phenylbutyric acid (4-PBA) may become a new medicine, which was reported to ameliorate the phenotype of an OI zebrafish model. In the present study, we aimed to analyze the pathology of OI and the effects of 4-PBA on patient-derived fibroblasts and induced pluripotent stem...

ba0007p114 | (1) | ICCBH2019

Hypophosphatasia in Japan: ALPL mutation analysis in 98 patients

Michigami Toshimi , Tachikawa Kanako , Yamazaki Miwa , Kawai Masanobu , Kubota Takuo , Ozono Keiichi

Background: Hypophosphatasia (HPP) is caused by inactivating mutations in the ALPL gene encoding tissue-nonspecific alkaline phosphatase (TNSALP). HPP is variable in clinical manifestations and prognosis, and is generally classified into six subtypes: perinatal lethal, perinatal benign (prenatal benign), infantile, childhood, adult, and odonto HPP. Although genetic test is broadly used for diagnosis of HPP, the genotype-phenotype relationship still remains unclear.<p class...

ba0004p11 | (1) | ICCBH2015

Effects of bisphosphonate for the development of scoliosis in children with osteogenesis imperfecta

Kashii Masafumi , Kanayama Sadaaki , Kitaoka Taichi , Makino Takahiro , Kaito Takashi , Kubota Takuo , Namba Noriyuki , Yamamoto Takehisa , Ozono Keiichi , Yoshikawa Hideki

Backgrounds: Osteogenesis imperfecta (OI) is an inherited bone disease caused by qualitative or quantitative defects in type I collagen, and is characterized by bone fragility and ligamentous laxity. Spine disorder is an important symptom in children with OI, and respiratory difficulties secondary to spinal disorder were identified as a main cause of death in these patients. Reduced fracture rates and prevention of long-bone deformities have been reported in children with OI w...

ba0004p16 | (1) | ICCBH2015

Genotype in patients with osteogenesis imperfecta using a targeted exome sequencing: correlation with phenotype

Kubota Takuo , Ohata Yasuhisa , Bizaoui-Auffret Varoona , Nawa Nobutoshi , Nakayama Hirofumi , Yamamoto Keiko , Fujiwara Makoto , Kitaoka Taichi , Takakuwa Satoshi , Namba Noriyuki , Ozono Keiichi

Objectives: Osteogenesis imperfecta (OI) is a relatively common skeletal dysplasia characterized by bone fragility, mainly resulting from mutations in the COL1A1 and COL1A2 genes. Phenotype–genotype correlation is not fully uncovered in OI. Additionally, more than ten genes have been found to be responsible for OI. In the current study, we determine mutations in patients with OI using a targeted exome sequencing and examine a phenotype–genotype correlation.<p cla...

ba0007oc23 | (1) | ICCBH2019

Effects of the FGF2 aptamer on growth plate cartilage development of achondroplasia patient-specific iPS cells in a xenograft model

Kimura Takeshi , Yasuda Kie , Nakano Yukako , Takeyari Shinji , Kitabatake Yasuji , Kubota Takuo , Miyoshi Yoko , Ozono Keiichi , Nonaka Yosuke , Fujiwara Masatoshi , Nakamura Yoshikazu

Objectives: Endochondral ossification in the growth plate cartilage (GPC) plays a crucial role in the determination of the length and shape of long bones. Many skeletal dysplasias are caused by GPC dysfunction, associated with short stature. We have already reported that human iPS cell-derived cartilage (hiPSC-Cart), when implanted into the subcutaneous spaces of the SCID mice for 4 weeks, formed skeletal tissue like GPC. This model could also recapitulate the pathology of FGF...

ba0007p61 | (1) | ICCBH2019

Biochemical and genetic analysis in patients with odontohypophosphatasia in Japan

Kubota Takuo , Ohata Yasuhisa , Ishihara Yasuki , Fujiwara Makoto , Takeyari Shinji , Yamamoto Kenichi , Nakano Yukako , Miyata Kei , Nakayama Hirofumi , Kitaoka Taichi , Okawa Rena , Nakano Kazuhiko , Akiyama Tomoyuki , Ozono Keiichi

Background: Hypophosphatasia (HPP) is characterized by defective mineralization of bone and/or teeth in the presence of low serum alkaline phosphatase (ALP) activity and caused by mutations in the ALPL gene encoding tissue-nonspecific ALP. Odontohypophosphatasia (odonto HPP) is the mildest form of hypophosphatasia and characterized by dental complications without abnormalities of the skeleton system.Objectives: We aimed to investigate biochemical and gen...