Yukako Nakano

Suita, 5650871, Japan

Last Updated: 09/26/2026

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Found 11 publications

Osteogenesis Imperfecta with a gross deletion including the COL1A1 gene, induced by Alu-driven microhomology-mediated end joining.

Osteogenesis Imperfecta with a gross deletion including the COL1A1 gene, induced by Alu-driven microhomology-mediated end joining.

Journal: Bone reports
Published: September 08, 2025

Real-world safety and age-dependent effectiveness of vosoritide in achondroplasia: A single-center retrospective analysis of transition from growth hormone to vosoritide.

Real-world safety and age-dependent effectiveness of vosoritide in achondroplasia: A single-center retrospective analysis of transition from growth hormone to vosoritide.

Journal: Bone
Published: August 06, 2025

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.

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.

Journal: PloS one
Published: February 07, 2023

Assessment of body fat mass, anthropometric measurement and cardiometabolic risk in children and adolescents with achondroplasia and hypochondroplasia.

Assessment of body fat mass, anthropometric measurement and cardiometabolic risk in children and adolescents with achondroplasia and hypochondroplasia.

Journal: Endocrine journal
Published: February 05, 2023

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

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

Journal: Bone reports
Published: February 01, 2023

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.

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.

Journal: Bone reports
Published: July 29, 2022

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.

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.

Journal: Bone
Published: March 10, 2021

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

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

Journal: American journal of medical genetics. Part A
Published: June 20, 2019

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

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

Journal: Endocrine journal
Published: October 30, 2018

Final adult height in long-term growth hormone-treated achondroplasia patients.

Final adult height in long-term growth hormone-treated achondroplasia patients.

Journal: European journal of pediatrics
Published: September 08, 2016

A case of autosomal dominant osteopetrosis type II with a novel TCIRG1 gene mutation.

A case of autosomal dominant osteopetrosis type II with a novel TCIRG1 gene mutation.

Journal: Journal of pediatric endocrinology & metabolism : JPEM
Published: January 05, 2013
Showing 1-11 of 11

Last Updated: 09/26/2026