Genotype and phenotype correlation analysis in 27 families with multiple osteochondroma and validation by ATDC5 chondrocyte models

Clinical research identified nine novel mutations in <i>EXT1</i> and <i>EXT2</i> genes from 27 families with MO, and patients with <i>EXT1</i> mutations have more severe symptoms than with <i>EXT2</i> mutations. Cellular experiments suggested that <i>EXT1</i> and <i>EXT2</i> gene mutations promote proliferation and differentiation of chondrocytes, which were consistent with clinical research.

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Publication Details

Journal
Bone and Joint Research
Published
2025-10-27
DOI
https://doi.org/10.1302/2046-3758.1410.bjr-2024-0477.r1
Primary Topic
Bone Tumor Diagnosis and Treatments
Type
article
Field-Weighted Citation Impact
0.00
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article

Genotype and phenotype correlation analysis in 27 families with multiple osteochondroma and validation by ATDC5 chondrocyte models

Shan Xu, Yuancheng Pan, Boling Liu, Shu Liu et al.
Bone and Joint Research
Bone Tumor Diagnosis and Treatments
article

Genotype and phenotype correlation analysis in 27 families with multiple osteochondroma and validation by ATDC5 chondrocyte models

Shan Xu, Yuancheng Pan, Boling Liu, Shu Liu, Mingrui Lin, Guo Xiao-yan, Rui Zhang
article en

Abstract

Clinical research identified nine novel mutations in <i>EXT1</i> and <i>EXT2</i> genes from 27 families with MO, and patients with <i>EXT1</i> mutations have more severe symptoms than with <i>EXT2</i> mutations. Cellular experiments suggested that <i>EXT1</i> and <i>EXT2</i> gene mutations promote proliferation and differentiation of chondrocytes, which were consistent with clinical research.

Bone and Joint ResearchVol. 14(10)
Fujian Normal University (CN), Fujian University of Traditional Chinese Medicine (CN), Fujian Medical University (CN), Fuzhou Second Hospital (CN)
Openalex Percentile: Top 55%
Bone Tumor Diagnosis and Treatments
DOIOpen Access PDFOpenAlex
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Genotype and phenotype correlation analysis in 27 families with multiple osteochondroma and validation by ATDC5 chondrocyte models — Shan Xu, Yuancheng Pan, et al. · Bone and Joint Research (2025) | TGRS Research Map | TGRS