SOX9

SOX9

A gene on chromosome 17q23 that encodes a member of the SOX (SRY-related HMG-box) family of transcription factors. SOX9 acts during chondrocyte differentiation and, with steroidogenic factor 1, regulates transcription of the anti-Muellerian hormone gene (AMH).
 
Molecular pathology
SOX9 mutations are associated with campomelic dysplasia, a skeletal malformation syndrome, which may be accompanied by sex reversal.
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Upregulation of microRNA-524-5p enhances the cisplatin sensitivity of gastric cancer cells by modulating proliferation and metastasis via targeting SOX9.
As for idiopathic scoliosis, more than 20 genes have been found being differentially expressed including collagen, TGF-[sz], FGF , and SOX9 .
Co-expression of SOX9 and SOX10 during melanocytic differentiation in vitro.
For example, the 18-bp indel of SOX9 has been identified as one of the functional genes for porcine inguinal and/or scrotal hernia (Brenig et al.
Pierre Robin sequence may be caused by dysregulation of SOX9 and KCNJ2.
That said, while most aspects of the presentation are straightforward, at various points a willingness to delve into some of the more technical language of genetics (such as FOXP2, SOX9, BRCA1, SINE, LINE1, Alus, MIR) is required.
2005a,b) have shown that sclerotic osteoblasts inhibit aggrecan production on protein and gene expression level and lead to a reduction in chondrogenic transcription factor SOX9 and collagen II on mRNA level compared to non-sclerotic osteoblasts.
While these cells containing GATA4 are located in the end portions of the pancreatic bud, the cells containing GATA4 and SOX9 settle in the body of the pancreas (51).
Four weeks after surgery, a real-time PCR analysis revealed that the mRNA expression of SOX9 was significantly greater in the regenerated tissue of all groups than the untreated control group (P<0.
CHEN ET AL/NATURE BIOTECHNOLOGY 2010 Number of Mutated resistant Disease gene people Cystic fibrosis CFTR 3 (lung disease) Smith-Lemli-Opitz DHCR7 2 syndrome (developmental disorder) Familial IKBKAP 1 dysautonomia (neurological disease) Epidermolysis KRT14 1 bullosa simplex (skin condition) Pfeiffer syndrome FGFR1 1 (bone disorder) APECED AIRE 1 (autoimmune disease) Acampomelic SOX9 1 campomelic dysplasia (bone disorder) Atelosteogenesis SLC26A2 3 (bone disorder)
SOX9 regulates prostaglandin D synthase gene transcription in vivo to ensure testis development.
Mechanisms involved in CEACAM1 and MITF correlation in melanoma may involve sex determining region Y [SRY] related HMG-box 9 (SOX9); SOX9 is a transcription factor involved in chondrogenesis and sex determination in embryo [46]; its function in normal melanocytes is upregulation of melanin synthesis in melanocytic cells after ultraviolet B (shortwave) rays (UVB) exposure by increasing MITF, dopachrome tautomerase (tyrosine-related protein 2), and tyrosinase expression [47], while increased expression of SOX9 in melanoma inhibits tumor cell proliferation by binding p21 directly or via MITF [48, 49].