Research Article

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Pseudoachondroplasia is an autosomal dominant osteochondrodysplasia characterized by disproportionate short stature, joint laxity, and early onset osteoarthrosis. Pseudoachondroplasia is caused by mutations in the gene encoding cartilage oligomeric matrix protein (COMP). We looked for mutations in the COMP gene in three sporadic Chinese pseudoachondroplasia patients and ... more

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Congenital cataract is caused by reduced transparency of the lens resulting from metabolic disorders during the fetal period. The disease shows great heterogeneity both clinically and genetically. We identified a 4-generation ethnic Han Chinese family affected by autosomal dominant congenital perinuclear cataract. The patients underwent full clinical and ophthalmologic examinations to ... more

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Sex differentiation in males is a highly complex phenomenon based on synergistic interactions between genes and their coded proteins. The Sox9 gene plays a critical role in embryonic development, cell lineages, and stem cell maintenance during testicular development. Sox9 gene expression is associated with sex reversal, with a 46, XX karyotype in males and ... more

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Bone morphogenetic protein-7 (BMP-7) and SOX9 are important transcription factors in chondrogenesis. In this study, we examined the biological function of the adeno-associated virus (AAV)-mediated BMP-7 and SOX9 double gene in vitro co-transfection of nucleus pulposus cells of human degenerative intervertebral disc. Human intervertebral disc nucleus pulposus cells were cultured ... more

X.F. Ren; Z.Z. Diao; Y.M. Xi; Z.H. Qi; S. Ren; Y.J. Liu; D.L. Yang; X. Zhang; S.L. Yuan