Pathogenic variants of the GNAS gene introduce an abnormal amino acid sequence in the β6 strand/α5 helix of Gsα, causing pseudohypoparathyroidism type 1A and pseudopseudohypoparathyroidism in two unrelated Japanese families
Ohata, Yasuhisa, Kakimoto, Haruna, Seki, Yuko, Ishihara, Yasuki, Nakano, Yukako, Yamamoto, Kenichi, Takeyari, Shinji, Fujiwara, Makoto, Kitaoka, Taichi, Takakuwa, Satoshi, Kubota, Takuo, Ozono, Keiichi
Published in Bone Reports (01.12.2022)
Published in Bone Reports (01.12.2022)
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Journal Article
Novel mutation of OCRL1 in Lowe syndrome with multiple epidermal cysts
Murakami, Yukako, Wataya‐Kaneda, Mari, Iwatani, Yoshiko, Kubota, Takuo, Nakano, Hajime, Katayama, Ichiro
Published in Journal of dermatology (01.03.2018)
Published in Journal of dermatology (01.03.2018)
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Journal Article
A case of HDR syndrome coexisting with tetralogy of Fallot, with a novel GATA3 mutation, which manifested as a renal abscess
Ikeuchi, Mayo, Kiyota, Kyoko, Itonaga, Tomoyo, Kawano-Matsuda, Fumika, Ohata, Yasuhisa, Fujiwara, Makoto, Kubota, Takuo, Ozono, Keiichi, Ihara, Kenji
Published in CEN case reports (01.05.2021)
Published in CEN case reports (01.05.2021)
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Journal Article
Adult hypophosphatasia with compound heterozygous p.Phe327Leu missense and c.1559delT frameshift mutations in tissue-nonspecific alkaline phosphatase gene: a case report
Fukushima, Kazunori, Kawai-Kowase, Keiko, Yonemoto, Yukio, Fujiwara, Makoto, Sato, Hiroko, Sato, Mahito, Kubota, Takuo, Ozono, Keiichi, Tamura, Junich
Published in Journal of medical case reports (24.04.2019)
Published in Journal of medical case reports (24.04.2019)
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Journal Article
Clinical characteristics of septo-optic dysplasia accompanied by congenital central hypothyroidism in Japan
Nagasaki, Keisuke, Kubota, Takuo, Kobayashi, Hironori, Sawada, Hirotake, Numakura, Chikahiko, Harada, Shohei, Takasawa, Kei, Minamitani, Kanshi, Ishii, Tomohiro, Okada, Satoshi, Kamasaki, Hotaka, Sugihara, Shigetaka, Adachi, Masanori, Tajima, Toshihiro
Published in Clinical Pediatric Endocrinology (01.01.2017)
Published in Clinical Pediatric Endocrinology (01.01.2017)
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Journal Article
Skeletal defects in ringelschwanz mutant mice reveal that Lrp6 is required for proper somitogenesis and osteogenesis
Kokubu, Chikara, Heinzmann, Ulrich, Kokubu, Tomoko, Sakai, Norio, Kubota, Takuo, Kawai, Masanobu, Wahl, Matthias B, Galceran, Juan, Grosschedl, Rudolf, Ozono, Keiichi, Imai, Kenji
Published in Development (Cambridge) (01.11.2004)
Published in Development (Cambridge) (01.11.2004)
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Journal Article
P139: Persistent growth-promoting effects of vosoritide in children with achondroplasia for up to 4 years: Update from phase 3 extension study
Savarirayan, Ravi, Tofts, Louise, Irving, Melita, Wilcox, William, Bacino, Carlos, Hoover-Fong, Julie, Font, Rosendo Ullot, Harmatz, Paul, Rutsch, Frank, Carroll, Ricki, Polgreen, Lynda, Ginebreda, Ignacio, Mohnike, Klaus, Charrow, Joel, Prada, Carlos, Hoernschemeyer, Daniel, Ozono, Keiichi, Kubota, Takuo, Alanay, Yasemin, Arundel, Paul, Kotani, Yumiko, Yasui, Natsuo, White, Klane, Brandstetter, Shelley, Saal, Howard, Leiva-Gea, Antonio, Luna-González, Felipe, Mochizuki, Hiroshi, Tajima, Asako, Basel, Donald, Fisheleva, Elena, Low, Andrea, Lawrinson, Sue, Day, Jonathan
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Journal Article
P141: Persistent growth-promoting effects of vosoritide in children with achondroplasia is accompanied by improvement in physical aspects of quality of life
Savarirayan, Ravi, Tofts, Louise, Irving, Melita, Wilcox, William, Bacino, Carlos, Hoover-Fong, Julie, Font, Rosendo Ullot, Harmatz, Paul, Rutsch, Frank, Carroll, Ricki, Polgreen, Lynda, Ginebreda, Ignacio, Mohnike, Klaus, Charrow, Joel, Prada, Carlos, Hoernschemeyer, Daniel, Ozono, Keiichi, Kubota, Takuo, Alanay, Yasemin, Arundel, Paul, Kotani, Yumiko, Yasui, Natsuo, White, Klane, Brandstetter, Shelley, Saal, Howard, Leiva-Gea, Antonio, Luna-González, Felipe, Mochizuki, Hiroshi, Tajima, Asako, Basel, Donald, Fisheleva, Elena, Rowell, Richard, Labed, Alice Huntsman, Day, Jonathan
Published in Genetics in Medicine Open (2024)
Published in Genetics in Medicine Open (2024)
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Journal Article
Oral manifestations of Japanese patients with osteogenesis imperfecta
Okawa, Rena, Kubota, Takuo, Kitaoka, Taichi, Kokomoto, Kazuma, Ozono, Keiichi, Nakano, Kazuhiko
Published in Pediatric dental journal (01.08.2017)
Published in Pediatric dental journal (01.08.2017)
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Journal Article
Early exfoliation of permanent tooth in patient with hypophosphatasia
Okawa, Rena, Miura, Jiro, Kokomoto, Kazuma, Kubota, Takuo, Kitaoka, Taichi, Ozono, Keiichi, Nakano, Kazuhiko
Published in Pediatric dental journal (01.12.2017)
Published in Pediatric dental journal (01.12.2017)
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Journal Article
Pheochromocytoma complicated by cyanotic congenital heart disease: a case report
Yamamoto, Keiko, Namba, Noriyuki, Kubota, Takuo, Usui, Takeshi, Takahashi, Kunihiko, Kitaoka, Taichi, Fujiwara, Makoto, Hori, Yumiko, Kogaki, Shigetoyo, Oue, Takaharu, Morii, Eiichi, Ozono, Keiichi
Published in Clinical Pediatric Endocrinology (01.01.2016)
Published in Clinical Pediatric Endocrinology (01.01.2016)
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Journal Article
A novel PTCH1 mutation in basal cell nevus syndrome with rare craniofacial features
Murata, Yuka, Kurosaka, Hiroshi, Ohata, Yasuhisa, Aikawa, Tomonao, Takahata, Sosuke, Fujii, Katsunori, Miyashita, Toshiyuki, Morita, Chisato, Inubushi, Toshihiro, Kubota, Takuo, Sakai, Norio, Ozono, Keiichi, Kogo, Mikihiko, Yamashiro, Takashi
Published in Human genome variation (02.04.2019)
Published in Human genome variation (02.04.2019)
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Journal Article
A novel COL1A1 deletion / insertion pathogenic variant in a patient with osteogenesis imperfecta
Chieko Yamada, Takuo Kubota, Takeshi Ishimi, Shinji Takeyari, Kenichi Yamamoto, Hirofumi Nakayama, Yasuhisa Ohata, Makoto Fujiwara, Taichi Kitaoka, Keiichi Ozono
Published in Clinical Pediatric Endocrinology (01.07.2022)
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Published in Clinical Pediatric Endocrinology (01.07.2022)
Journal Article
Decrease in serum FGF23 levels after intravenous infusion of pamidronate in patients with osteogenesis imperfecta
Kitaoka, Taichi, Namba, Noriyuki, Miura, Kohji, Kubota, Takuo, Ohata, Yasuhisa, Fujiwara, Makoto, Hirai, Haruhiko, Yamamoto, Takehisa, Ozono, Keiichi
Published in Journal of bone and mineral metabolism (01.09.2011)
Published in Journal of bone and mineral metabolism (01.09.2011)
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Journal Article
Endocrinological and phenotype evaluation in a patient with acrodysostosis
Ueyama, Kaoru, Namba, Noriyuki, Kitaoka, Taichi, Yamamoto, Keiko, Fujiwara, Makoto, Ohata, Yasuhisa, Kubota, Takuo, Ozono, Keiichi
Published in Clinical Pediatric Endocrinology (01.01.2017)
Published in Clinical Pediatric Endocrinology (01.01.2017)
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Journal Article
A family with brachydactyly mental retardation syndrome with a missense variant in HDAC4
Shinji Takeyari, Kenichi Yamamoto, Makoto Fujiwara, Yasuhisa Ohata, Taichi Kitaoka, Takuo Kubota, Miho Nagata, Yasuki Ishihara, Yohei Miyashita, Yoshihiro Asano, Keiichi Ozono
Published in Clinical Pediatric Endocrinology (01.04.2023)
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Published in Clinical Pediatric Endocrinology (01.04.2023)
Journal Article
Serum Fibroblast Growth Factor 23 Is a Useful Marker to Distinguish Vitamin D-Deficient Rickets from Hypophosphatemic Rickets
Kubota, Takuo, Kitaoka, Taichi, Miura, Kohji, Fujiwara, Makoto, Ohata, Yasuhisa, Miyoshi, Yoko, Yamamoto, Keiko, Takeyari, Shinji, Yamamoto, Takehisa, Namba, Noriyuki, Ozono, Keiichi
Published in Hormone research in paediatrics (01.01.2014)
Published in Hormone research in paediatrics (01.01.2014)
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Journal Article
Wnt Signaling in Bone
Kubota, Takuo, Michigami, Toshimi, Ozono, Keiichi
Published in Clinical Pediatric Endocrinology (2010)
Published in Clinical Pediatric Endocrinology (2010)
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Journal Article
Alkaline phosphatase in pediatric patients with genu varum caused by vitamin D-deficient rickets
Masashi Mukai, Takehisa Yamamoto, Shinji Takeyari, Yasuhisa Ohata, Taichi Kitaoka, Takuo Kubota, Katsusuke Yamamoto, Eri Kijima, Yasuhiro Hasegawa, Toshimi Michigami, Keiichi Ozono
Published in ENDOCRINE JOURNAL (2021)
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Published in ENDOCRINE JOURNAL (2021)
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