Novel SOX9 gene mutation in campomelic dysplasia with autosomal sex reversal. J Formos Med Assoc 2006; 105(12):1013-1016.Novel SOX9 Gene Mutation in Campomelic Dysplasia with Autosomal Sex Reversal[J] . Hui-Pin Hsiao,Li-Ping Tsai,Mei-Chyn Chao,Hsin-I Tseng,Yuli C. Chang.Journal of the ...
1.Mutation analysis of SOX9 gene in patients with hypospadias;尿道下裂患者SOX9基因突变的研究 2.Effects of Sox9 gene mediated by adenovirus on lumbar intervertebral degenerative disc of rabbits;腺病毒介导的Sox9基因对兔退变腰椎间盘的治疗作用 3.Sox9 gene therapy for intervertebral degenerative disc of ...
Transcriptional profiles of intestinal tumors in Apc(Min) mice are unique from those of embryonic intestine and identify novel gene targets dysregulated in human colorectal tumors[J].Cancer Res, 2005, 65(1): 166-176. [32] Chen Q, Zheng W, Yao W, et al. Analysis of SOX4 gene mutation ...
We assessed whether the expression of SOX9, a central male sex-determining gene in mammals, or three other conserved transcription factors (WT1, GATA4, and LHX9) was regulated by estrogen signaling in the turtle. As in mice, all somatic cell types in the immature turtle gonad initially ...
2006: Novel SOX9 gene mutation in campomelic dysplasia with autosomal sex reversal Journal of the Formosan Medical Association 105(12): 1013-1016 Wirth, J.; Wagner, T.; Meyer, J.; Pfeiffer, R.A.; Tietze, H.U.; Schempp, W.; Scherer, G. 1996: Translocation breakpoints in three ...
Consistent with the patient's phenotype, the A76E mutation does not affect DNA binding and activation of the SF1 enhancer. DNA-dependent cooperative dimerization could represent a novel mechanism to achieve tissue-specific regulation of gene expression by a SOX transcription factor. These results ...
Sox9 gene was cloned from immortalized precartilaginous stem cells and its eukaryotic expression vector constructed in order to explore the possibility of bone marrow-derived stromal cells differentiation into precartilaginous stem cells induced by Sox9. A full-length fragment of Sox9 was obtained by RT...
The multiple malformation syndrome seen in patient 3 suggests a single gene mutation, perhaps analogous to the SOX9 mutations in children with campomelic dysplasia. Patient 4 has a disorder of unknown genesis which shares many features of... B. Friedman,C Cunniff,R. Heidenreich,... - 《Journal...
Direct sequencing analysis demonstrated a novel missense mutation (p.H169Q) within the coding region of the SOX9 gene and negative for TBX4 mutations. Functional analysis of the p.H169Q mutant revealed reduced but not fully abolished transactivation capacity of the mutated protein. Retained ...
Intestinal polyposis in mice with a dominant stable mutation of the beta-catenin gene EMBO J., 18 (1999), pp. 5931-5942 View in ScopusGoogle Scholar Hattori et al., 2010 T. Hattori, C. Müller, S. Gebhard, E. Bauer, F. Pausch, B. Schlund, M.R. Bösl, A. Hess, C. Surmann...