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.

Autor: Ohata Y; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan., Kitaoka T; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan., Ishimi T; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan., Yamada C; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan., Nakano Y; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan., Yamamoto K; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan.; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan., Takeyari S; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan., Nakayama H; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan.; The 1st. Department of Oral and Maxillofacial Surgery, Osaka University Graduate School of Dentistry, Suita, Osaka, Japan., Fujiwara M; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan., Kubota T; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan., Ozono K; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Osaka, Japan.

Publikováno v: PloS one [PLoS One] 2023 Aug 29; Vol. 18 (8), pp. e0290812. Date of Electronic Publication: 2023 Aug 29 (Print Publication: 2023).

A family with brachydactyly mental retardation syndrome with a missense variant in HDAC4 .

Autor: Takeyari S; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan., Yamamoto K; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Osaka, Japan., Fujiwara M; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.; The 1st. Department of Oral and Maxillofacial Surgery, Osaka University Graduate School of Dentistry, Osaka, Japan., Ohata Y; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan., Kitaoka T; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan., Kubota T; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan., Nagata M; Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Osaka, Japan., Ishihara Y; Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Osaka, Japan., Miyashita Y; Department of Legal Medicine, Osaka University Graduate School of Medicine, Osaka, Japan., Asano Y; Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Osaka, Japan., Ozono K; Department of Pediatrics, Osaka University Graduate School of Medicine, Osaka, Japan.

Publikováno v: Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology [Clin Pediatr Endocrinol] 2023; Vol. 32 (2), pp. 105-109. Date of Electronic Publication: 2023 Feb 10.

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.

Autor: Ohata Y; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan., Kakimoto H; Department of Pediatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan., Seki Y; Department of Pediatrics, Kagoshima University Graduate School of Medical and Dental Sciences, Kagoshima, Japan., Ishihara Y; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan.; The first Department of Oral and Maxillofacial Surgery, Osaka University Graduate School of Dentistry, Suita, Japan.; Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Suita, Japan., Nakano Y; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan., Yamamoto K; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan.; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan., Takeyari S; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan., Fujiwara M; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan.; The first Department of Oral and Maxillofacial Surgery, Osaka University Graduate School of Dentistry, Suita, Japan., Kitaoka T; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan., Takakuwa S; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan.; Department of Pediatrics, Hyogo Prefectural Nishinomiya Hospital, Japan., Kubota T; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan., Ozono K; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan.

Publikováno v: Bone reports [Bone Rep] 2022 Nov 10; Vol. 17, pp. 101637. Date of Electronic Publication: 2022 Nov 10 (Print Publication: 2022).

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Genotype-phenotype analysis, and assessment of the importance of the zinc-binding site in PHEX in Japanese patients with X-linked hypophosphatemic rickets using 3D structure modeling.

Autor: Ishihara Y; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan; The 1st. Department of Oral and Maxillofacial Surgery, Osaka University Graduate School of Dentistry, Suita, Japan; Department of Cardiovascular Medicine, Osaka University Graduate School of Medicine, Suita, Japan., Ohata Y; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan., Takeyari S; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan., Kitaoka T; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan., Fujiwara M; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan; The 1st. Department of Oral and Maxillofacial Surgery, Osaka University Graduate School of Dentistry, Suita, Japan., Nakano Y; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan., Yamamoto K; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan; Department of Statistical Genetics, Osaka University Graduate School of Medicine, Suita, Japan., Yamada C; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan., Yamamoto K; Department of Pediatric Nephrology and Metabolism, Osaka Women's and Children's Hospital, Izumi, Japan., Michigami T; Department of Bone and Mineral Research, Osaka Women's and Children's Hospital, Izumi, Japan., Mabe H; Department of Pediatrics, Kumamoto University Hospital, Kumamoto, Japan., Yamaguchi T; Department of Pediatrics, Hokkaido University Graduate School of Medicine, Sapporo, Japan., Matsui K; Department of Pediatrics, Shiga University of Medical Science, Otsu, Japan., Tamada I; Department of Pediatrics, Imakiire General Hospital, Kagoshima, Japan., Namba N; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan; Division of Pediatrics and Perinatology, Faculty of Medicine, Tottori University, Tottori, Japan., Yamamoto A; Department of Pediatrics, Kumamoto Chuo Hospital, Kumamoto, Japan., Etoh J; Department of Pediatrics, Saga-Ken Medical Centre Koseikan, Saga, Japan., Kawaguchi A; Department of Pediatrics, National Hospital Organization Hokkaido Medical Center, Sapporo, Japan., Kosugi R; Department of Diabetes and Endocrinology, Shizuoka General Hospital, Shizuoka, Japan., Ozono K; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan., Kubota T; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan. Electronic address: tkubota@ped.med.osaka-u.ac.jp.

Publikováno v: Bone [Bone] 2021 Dec; Vol. 153, pp. 116135. Date of Electronic Publication: 2021 Jul 30.