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Your search keyword '"Yasuhisa, Ohata"' showing total 3 results
Start Over Author "Yasuhisa, Ohata" Publisher elsevier
3 results on '"Yasuhisa, Ohata"'

1. A patient with pachydermoperiostosis harboring SLCO2A1 variants with a history of differentiating from acromegaly

Author

Yukako Nakano, Yasuhisa Ohata, Makoto Fujiwara, Takuo Kubota, Yoko Miyoshi, and Keiichi Ozono

Subjects
Pachydermoperiostosis, Acromegaly, Hydrarthrosis, Prostaglandin transporter variant, Diseases of the musculoskeletal system, RC925-935
Abstract

Pachydermoperiostosis (PDP) is a rare hereditary disease characterized by digital clubbing, pachydermia, and periostosis. We describe a Japanese male patient with PDP who was differentially diagnosed with acromegaly by identification of compound heterozygous variants in SLCO2A1. Recent studies have reported various clinical manifestations, as well as skeletal and dermal features, in patients with PDP. Genetic testing provided not only PDP diagnosis and differentiation from acromegaly, but also information about possible complications and comorbidities throughout life.

Published
2023
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2. 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

Author

Yasuhisa Ohata, Haruna Kakimoto, Yuko Seki, Yasuki Ishihara, Yukako Nakano, Kenichi Yamamoto, Shinji Takeyari, Makoto Fujiwara, Taichi Kitaoka, Satoshi Takakuwa, Takuo Kubota, and Keiichi Ozono

Subjects
Pseudohypoparathyroidism 1A (PHP1A), Pseudopseudohypoparathyroidism (PPHP), GNAS gene, Gsα, β6 strand/α5 helix, Diseases of the musculoskeletal system, RC925-935
Abstract

Pseudohypoparathyroidism 1A (PHP1A) and pseudopseudohypoparathyroidism (PPHP) are caused by loss-of-function variants of GNAS, which encodes Gsα. We present two unrelated Japanese families with PHP1A and PPHP harboring unreported pathogenic variants of GNAS (c.1141delG, p.Asp381Thrfs*23 and c.1117delC, p.Arg373Alafs*31). These variants introduce abnormal amino acids in the β6 strand/α5 helix of Gsα, which interact with G protein coupling receptor (GPCR). We conclude that these variants alter the association of Gsα with GPCR and cause PHP1A or PPHP.

Published
2022
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3. Phosphate promotes osteogenic differentiation through non-canonical Wnt signaling pathway in human mesenchymal stem cells

Author

Shumin, Rui, Takuo, Kubota, Yasuhisa, Ohata, Kenichi, Yamamoto, Makoto, Fujiwara, Shinji, Takeyari, and Keiichi, Ozono

Subjects
Histology, Physiology, Endocrinology, Diabetes and Metabolism, Cell Differentiation, Mesenchymal Stem Cells, Phosphate, Non-canonical Wnt signaling pathway, Phosphates, Human mesenchymal stem cells, Osteogenesis, Osteogenic differentiation, Humans, Calcium, RNA, Messenger, RNA, Small Interfering, Wnt Signaling Pathway, WNT5b, Cells, Cultured, beta Catenin
Abstract

Shumin Rui, Takuo Kubota, Yasuhisa Ohata, Kenichi Yamamoto, Makoto Fujiwara, Shinji Takeyari, Keiichi Ozono, Phosphate promotes osteogenic differentiation through non-canonical Wnt signaling pathway in human mesenchymal stem cells, Bone, 2022, 164, 16525., Background: Phosphate is indispensable in osteogenesis and mineralization. However, mechanisms by which phosphate enhances osteogenic differentiation are not fully understood. In this study, we studied the effect of phosphate on osteogenic differentiation as well as signaling pathways induced by phosphate in the process. Method: Induced human bone marrow-derived mesenchymal stem cells differentiation into osteoblasts by the change of media containing β-glycerophosphate (GP), 1 mM inorganic phosphate, or 3 mM inorganic phosphate (Pi). The differentiation of osteoblasts was verified by the expression of osteoblast differentiation markers and calcium deposition. RNA sequencing was performed to assess transcriptome in the early stage of osteogenic differentiation. Results: Osteogenic differentiation and mineralization were promoted in the 3 mM Pi group compared to those in the GP and 1 mM Pi groups on day 7 of culture. RNA sequencing revealed that the gene expressions involved in osteogenesis and the components in the Wnt signaling pathway was increased in 3 mM Pi group compared with those in the GP on day 7. Analysis with qPCR and Western blot suggested upregulation of components in the non-canonical Wnt signaling pathway, including WNT5b and phosphorylated-c-Jun in the 3 mM Pi group on day 7. WNT11 mRNA expression was increased in the 2 induction groups on day 7. Inhibition of WNT5b by siRNA experiment attenuated the components in non-canonical Wnt signaling expression, including WNT5b, WNT11 and ROR2 mRNA expression and phosphorylated-c-Jun protein expression. In addition, osteogenic differentiation and mineralization were partly decreased in 3 mM Pi group on day 7 by the inhibition of WNT5b. Conclusion: Pi promoted osteogenic differentiation through the up-regulation of the non-canonical Wnt signaling pathway, including WNT5b, WNT11, p-c-Jun/c-Jun, in the early stage of differentiation. These findings provide a new perspective into the association of Pi and the non-canonical Wnt signaling pathway during osteogenic differentiation.

Published
2022

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