List of works - Yasuhisa Ohata

4-phenylbutyric acid enhances the mineralization of osteogenesis imperfecta iPSC-derived osteoblasts

scientific article published on 05 November 2020

A case of primary hyperparathyroidism in childhood found by a chance hematuria.

scientific article published on 07 February 2007

A novel mutation in basal cell nevus syndrome with rare craniofacial features

scientific article published on 02 April 2019

Acromesomelic dysplasia, type maroteaux caused by novel loss-of-function mutations of the NPR2 gene: Three case reports.

scientific article published on 14 November 2015

An Overgrowth Disorder Associated with Excessive Production of cGMP Due to a Gain-of-Function Mutation of the Natriuretic Peptide Receptor 2 Gene ⬇️

scientific article published on August 3, 2012

Circulating Levels of Soluble α-Klotho Are Markedly Elevated in Human Umbilical Cord Blood ⬇️

scientific article published on March 16, 2011

Comprehensive genetic analyses using targeted next-generation sequencing and genotype-phenotype correlations in 53 Japanese patients with osteogenesis imperfecta

scientific article published on 29 July 2019

Current concepts in perinatal mineral metabolism

scientific article published on 30 January 2016

Decrease in serum FGF23 levels after intravenous infusion of pamidronate in patients with osteogenesis imperfecta ⬇️

scientific article published on February 23, 2011

Dysregulated gene expression in the primary osteoblasts and osteocytes isolated from hypophosphatemic Hyp mice

scientific article (publication date: 2014)

Elevated fibroblast growth factor 23 exerts its effects on placenta and regulates vitamin D metabolism in pregnancy of Hyp mice.

scientific article published in July 2014

Endocrinological and phenotype evaluation in a patient with acrodysostosis.

scientific article published on 27 July 2017

FGF23 Suppresses Chondrocyte Proliferation in the Presence of Soluble α-Klotho both in Vitro and in Vivo ⬇️

scientific article published on December 12, 2012

Functional analysis of monocarboxylate transporter 8 mutations in Japanese Allan-Herndon-Dudley syndrome patients

scientific article published on 25 October 2018

Genetic correction of induced pluripotent stem cells mediated by transcription activator-like effector nucleases targeting ALPL recovers enzyme activity and calcification in vitro

scientific article published on 28 May 2019

IGF2 Mutations

scientific article published on 01 January 2020

Interleukin-1-induced acute bone resorption facilitates the secretion of fibroblast growth factor 23 into the circulation

scientific article published on 05 July 2014

Japanese patient with Cole-carpenter syndrome with compound heterozygous variants of SEC24D

scientific article published on 21 November 2018

Metreleptin treatment for congenital generalized lipodystrophy type 4 (CGL4): a case report

scientific article published on 31 January 2019

Osteoclast-derived IGF1 is required for pagetic lesion formation in vivo

scientific article published on 26 March 2020

Parental somatogonadal COL2A1 mosaicism contributes to intrafamilial recurrence in a family with type 2 collagenopathy

scientific article published on 19 December 2019

Phenotypes of a family with XLH with a novel PHEX mutation

scientific article published on 31 March 2020

Serum NT-proCNP levels increased after initiation of GH treatment in patients with achondroplasia/hypochondroplasia.

scientific article published on 25 February 2016

Serum fibroblast growth factor 23 is a useful marker to distinguish vitamin D-deficient rickets from hypophosphatemic rickets

scientific article published on 26 February 2014

Successful induction of sclerostin in human-derived fibroblasts by 4 transcription factors and its regulation by parathyroid hormone, hypoxia, and prostaglandin E2.

scientific article published on 2 February 2016

Two Japanese familial cases of Caffey disease with and without the common COL1A1 mutation and normal bone density, and review of the literature.

scientific article published on 04 January 2014

List of works by Yasuhisa Ohata