Search Results - "Yasuhisa Ohata"

4-Phenylbutyric acid enhances the mineralization of osteogenesis imperfecta iPSC-derived osteoblasts by Takeyari, Shinji, Kubota, Takuo, Ohata, Yasuhisa, Fujiwara, Makoto, Kitaoka, Taichi, Taga, Yuki, Mizuno, Kazunori, Ozono, Keiichi

“…Osteogenesis imperfecta (OI) is a heritable brittle bone disease mainly caused by mutations in the two type I collagen genes. Collagen synthesis is a complex…”
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Pathogenic Variants of the PHEX Gene by Ohata, Yasuhisa, Ishihara, Yasuki

“…Twenty-five years ago, a pathogenic variant of the phosphate-regulating endopeptidase homolog X-linked (PHEX) gene was identified as the cause of X-linked…”
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Clinical Practice Guidelines for Hypophosphatasia by Michigami, Toshimi, Ohata, Yasuhisa, Fujiwara, Makoto, Mochizuki, Hiroshi, Adachi, Masanori, Kitaoka, Taichi, Kubota, Takuo, Sawai, Hideaki, Namba, Noriyuki, Hasegawa, Kosei, Fujiwara, Ikuma, Ozono, Keiichi

“…Hypophosphatasia (HPP) is a rare bone disease caused by inactivating mutations in the ALPL gene, which encodes tissue-nonspecific alkaline phosphatase…”
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Assessment of body fat mass, anthropometric measurement and cardiometabolic risk in children and adolescents with achondroplasia and hypochondroplasia by Nakano, Yukako, Kubota, Takuo, Ohata, Yasuhisa, Takeyari, Shinji, Kitaoka, Taichi, Miyoshi, Yoko, Ozono, Keiichi

“…Achondroplasia is a rare skeletal dysplasia characterized by rhizomelic short stature, whose prevalence is about 1 per 25,000 births. For some patients with…”
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Association of trabecular bone score and bone mineral apparent density with the severity of bone fragility in children and adolescents with osteogenesis imperfecta: A cross-sectional study by Ohata, Yasuhisa, Kitaoka, Taichi, Ishimi, Takeshi, Yamada, Chieko, Nakano, Yukako, Yamamoto, Kenichi, Takeyari, Shinji, Nakayama, Hirofumi, Fujiwara, Makoto, Kubota, Takuo, Ozono, Keiichi

“…Osteogenesis imperfecta (OI) is a hereditary skeletal disease characterized by bone fragility. Areal bone mineral density (BMD), evaluated by dual-energy X-ray…”
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Clinical Practice Guidelines for Achondroplasia by Kubota, Takuo, Adachi, Masanori, Kitaoka, Taichi, Hasegawa, Kosei, Ohata, Yasuhisa, Fujiwara, Makoto, Michigami, Toshimi, Mochizuki, Hiroshi, Ozono, Keiichi

“…Achondroplasia (ACH) is a skeletal dysplasia that presents with limb shortening, short stature, and characteristic facial configuration. ACH is caused by…”
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Alkaline phosphatase in pediatric patients with genu varum caused by vitamin D-deficient rickets by Mukai, Masashi, Yamamoto, Takehisa, Takeyari, Shinji, Ohata, Yasuhisa, Kitaoka, Taichi, Kubota, Takuo, Yamamoto, Katsusuke, Kijima, Eri, Hasegawa, Yasuhiro, Michigami, Toshimi, Ozono, Keiichi

“…An elevated serum alkaline phosphatase (ALP) level is one of the markers for the presence of rickets in children, but it is also associated with bone…”
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An overgrowth disorder associated with excessive production of cGMP due to a gain-of-function mutation of the natriuretic peptide receptor 2 gene by Miura, Kohji, Namba, Noriyuki, Fujiwara, Makoto, Ohata, Yasuhisa, Ishida, Hidekazu, Kitaoka, Taichi, Kubota, Takuo, Hirai, Haruhiko, Higuchi, Chikahisa, Tsumaki, Noriyuki, Yoshikawa, Hideki, Sakai, Norio, Michigami, Toshimi, Ozono, Keiichi

“…We describe a three-generation family with tall stature, scoliosis and macrodactyly of the great toes and a heterozygous p.Val883Met mutation in Npr2, the gene…”
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Potential pathological role of single nucleotide polymorphism (c.787T>C) in alkaline phosphatase (ALPL) for the phenotypes of hypophosphatasia by Matsuda, Nozomi, Takasawa, Kei, Ohata, Yasuhisa, Takishima, Shigeru, Kubota, Takuo, Ishihara, Yasuki, Fujiwara, Makoto, Ogawa, Erika, Morio, Tomohiro, Kashimada, Kenichi, Ozono, Keiichi

“…Hypophosphatasia (HPP; OMIM 241510, 241500, and 146300) is an inherited metabolic disease characterized by defects of bone and tooth mineralization, which is…”
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A case of hyperphosphatemic familial tumoral calcinosis due to maternal uniparental disomy of a GALNT3 variant by Nishimura-Kinoshita, Naoko, Ohata, Yasuhisa, Sawai, Hiromi, Izawa, Masako, Takeyari, Shinji, Kubota, Takuo, Omae, Yosuke, Ozono, Keiichi, Tokunaga, Katsushi, Hamajima, Takashi

“…Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare, inherited autosomal recessive disorder caused by fibroblast growth factor-23 (FGF23),…”
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Genetic correction of induced pluripotent stem cells mediated by transcription activator-like effector nucleases targeting ALPL recovers enzyme activity and calcification in vitro by Nakano, Chiho, Kitabatake, Yasuji, Takeyari, Shinji, Ohata, Yasuhisa, Kubota, Takuo, Taketani, Ken, Kogo, Mikihiko, Ozono, Keiichi

“…Hypophosphatasia (HPP) is an inheritable disease affecting both skeletal systems and extra-skeletal organs due to mutations of the gene ALPL, which encodes…”
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Functional analysis of monocarboxylate transporter 8 mutations in Japanese Allan-Herndon-Dudley syndrome patients by Islam, Mohammad Saiful, Namba, Noriyuki, Ohata, Yasuhisa, Fujiwara, Makoto, Nakano, Chiho, Takeyari, Shinji, Miyata, Kei, Nakano, Yukako, Yamamoto, Kenichi, Nakayama, Hirofumi, Kitaoka, Taichi, Kubota, Takuo, Ozono, Keiichi

“…Monocarboxylate transporter 8 (MCT8) facilitates T3 uptake into cells. Mutations in MCT8 lead to Allan-Herndon-Dudley syndrome (AHDS), which is characterized…”
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Increased S1P expression in osteoclasts enhances bone formation in an animal model of Paget's disease by Nagata, Yuki, Miyagawa, Kazuaki, Ohata, Yasuhisa, Petrusca, Daniela N., Pagnotti, Gabriel M., Mohammad, Khalid S., Guise, Theresa A., Windle, Jolene J., David Roodman, G., Kurihara, Noriyoshi

“…Paget's disease (PD) is characterized by increased numbers of abnormal osteoclasts (OCLs) that drive exuberant bone formation, but the mechanisms responsible…”
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The 2023 Guidelines for the management and treatment of glucocorticoid-induced osteoporosis by Tanaka, Yoshiya, Soen, Satoshi, Hirata, Shintaro, Okada, Yosuke, Fujiwara, Saeko, Tanaka, Ikuko, Kitajima, Yuriko, Kubota, Takuo, Ebina, Kosuke, Takashi, Yuichi, Inoue, Reiko, Yamauchi, Mika, Okubo, Naoaki, Ueno, Masanobu, Ohata, Yasuhisa, Ito, Nobuaki, Ozono, Keiichi, Nakayama, Hisanori, Terauchi, Masakazu, Tanaka, Sakae, Fukumoto, Seiji

“…Introduction Although synthetic glucocorticoids (GCs) are commonly used to treat autoimmune and other diseases, GC induced osteoporosis (GIOP) which accounts…”
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Effect of Asfotase Alfa on Muscle Weakness in a Japanese Adult Patient of Hypophosphatasia with Low ALP Levels by Koyama, Hiroyuki, Yasuda, Satoshi, Kakoi, Shota, Ohata, Yasuhisa, Shimizu, Yuki, Hasegawa, Chie, Hayakawa, Akiko, Akiyama, Tomoyuki, Yagi, Takashi, Aotani, Daisuke, Imaeda, Kenro, Ozono, Keiichi, Kataoka, Hiromi, Tanaka, Tomohiro

“…A 40-year-old Japanese woman presented to our hospital with general fatigue and muscle weakness. She had a history of premature loss of deciduous teeth at 4…”
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Elevated Fibroblast Growth Factor 23 Exerts Its Effects on Placenta and Regulates Vitamin D Metabolism in Pregnancy of Hyp Mice by Ohata, Yasuhisa, Yamazaki, Miwa, Kawai, Masanobu, Tsugawa, Naoko, Tachikawa, Kanako, Koinuma, Tomoko, Miyagawa, Kazuaki, Kimoto, Akihito, Nakayama, Masahiro, Namba, Noriyuki, Yamamoto, Hironori, Okano, Toshio, Ozono, Keiichi, Michigami, Toshimi

“…ABSTRACT Fibroblast growth factor 23 (FGF23) functions in an endocrine fashion and requires α‐Klotho to exert its effects on the target organs. We have…”
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A family with brachydactyly mental retardation syndrome with a missense variant in HDAC4 by Takeyari, Shinji, Yamamoto, Kenichi, Fujiwara, Makoto, Ohata, Yasuhisa, Kitaoka, Taichi, Kubota, Takuo, Nagata, Miho, Ishihara, Yasuki, Miyashita, Yohei, Asano, Yoshihiro, Ozono, Keiichi

“…Brachydactyly mental retardation syndrome (BDMR) or chromosome 2q37 deletion syndrome is a genetic disorder caused by 2q37 deletion or haploinsufficiency of…”
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Dysregulated gene expression in the primary osteoblasts and osteocytes isolated from hypophosphatemic Hyp mice by Miyagawa, Kazuaki, Yamazaki, Miwa, Kawai, Masanobu, Nishino, Jin, Koshimizu, Takao, Ohata, Yasuhisa, Tachikawa, Kanako, Mikuni-Takagaki, Yuko, Kogo, Mikihiko, Ozono, Keiichi, Michigami, Toshimi

“…Osteocytes express multiple genes involved in mineral metabolism including PHEX, FGF23, DMP1 and FAM20C. In Hyp mice, a murine model for X-linked…”
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Current concepts in perinatal mineral metabolism by Ohata, Yasuhisa, Ozono, Keiichi, Michigami, Toshimi

“…The serum levels of calcium (Ca) and phosphate are maintained higher in the fetus than in the pregnant mother, especially in late gestation, to meet the…”
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Both FGF23 and extracellular phosphate activate Raf/MEK/ERK pathway via FGF receptors in HEK293 cells by Yamazaki, Miwa, Ozono, Keiichi, Okada, Tomoko, Tachikawa, Kanako, Kondou, Hiroki, Ohata, Yasuhisa, Michigami, Toshimi

“…Fibroblast growth factor 23 (FGF23) is a phosphaturic hormone produced by bone and exerts its function in the target organs by binding the FGF receptor (FGFR)…”
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