Satoshi Takakuwa

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Infantile myofibromatosis is a rare clinical entity characterized by multiple mesenchymal tumors in the neonatal period. We describe a 15-month-old girl with multicentric cranial lesions involving the parietal and occipital bones associated with a single small subcutaneous lesion in the back. Magnetic resonance imaging clearly demonstrated the isointense(More)
A novel missense mutation of the growth hormone receptor (GHR) gene was identified in a Japanese short boy with GH insensitivity. The analysis of the GHR gene revealed a novel heterozygous T51I mutation in exon 4. To clarify the effect of this mutation on GH signaling, the mutant GHR was expressed in CHO cells and its functional properties were(More)
Makoto Abe Masahiro Abe Haruhiko Akiyama Norio Amizuka Kazuhiro Aoki Takatoshi Aoki Kiyoshi Aoyagi Nobuhito Araki Hiroshi Asahara Izumi Asahina Giampiero I. Baroncelli David B. Burr Jianquan Chen Po-Quang Chen Ching-Lung Cheung Hyung Jin Choi Naoyuki Chosa Ho-Yeon Chung Feng Dai Artemis Doulgeraki Kosuke Ebina Itsuro Endo Naoto Endo Yoichi Ezura José Luis(More)
OBJECTIVE Serum amino-terminal propeptide of C-type natriuretic peptide (NT-proCNP) levels have been proposed as a biomarker of linear growth in healthy children. The usefulness of NT-proCNP in patients with achondroplasia (ACH)/hypochondroplasia (HCH) remains to be elucidated. The objective was to study whether serum NT-proCNP level is a good biomarker for(More)
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