Sox9

Summary

Gene Symbol: Sox9
Description: SRY-box 9
Alias: CMD1, CMPD1, SRA1, SRXX2, SRXY10, transcription factor SOX-9, SRY (sex determining region Y)-box9, SRY (sex-determining region Y)-box 9 protein, SRY-related HMG-box, gene 9
Species: human
Products:     Sox9

Top Publications

  1. Tsuda M, Takahashi S, Takahashi Y, Asahara H. Transcriptional co-activators CREB-binding protein and p300 regulate chondrocyte-specific gene expression via association with Sox9. J Biol Chem. 2003;278:27224-9 pubmed
    ..b>Sox9 is a key transcription factor that is essential for chondrocyte differentiation and chondrocyte-specific gene ..
  2. Sun L, Mathews L, Cabarcas S, Zhang X, Yang A, Zhang Y, et al. Epigenetic regulation of SOX9 by the NF-κB signaling pathway in pancreatic cancer stem cells. Stem Cells. 2013;31:1454-66 pubmed publisher
    ..Moreover, SOX9, demethylated in CSCs, is shown to play a crucial role in the invasion process...
  3. Cook A, Smith A, Smit D, Leonard J, Sturm R. Co-expression of SOX9 and SOX10 during melanocytic differentiation in vitro. Exp Cell Res. 2005;308:222-35 pubmed
    ..A novel finding implicates a second SOX protein, SOX9, as a potential melanogenic transcriptional regulator, as its expression level is increased following the down-..
  4. Guérit D, Philipot D, Chuchana P, Toupet K, Brondello J, Mathieu M, et al. Sox9-regulated miRNA-574-3p inhibits chondrogenic differentiation of mesenchymal stem cells. PLoS ONE. 2013;8:e62582 pubmed publisher
    ..We found that miR-574-3p up-regulation is mediated via direct binding of Sox9 to its promoter region and demonstrated by reporter assay that retinoid X receptor (RXR)? is one gene specifically ..
  5. Vidal V, Ortonne N, Schedl A. SOX9 expression is a general marker of basal cell carcinoma and adnexal-related neoplasms. J Cutan Pathol. 2008;35:373-9 pubmed publisher
    b>SOX9 is a transcription factor that fulfills multiple functions during development. In the hair follicle SOX9 is expressed in the outer layer of the epithelial sheath, and the hair stem cell compartment...
  6. Kim K, Park Y, Im G. Changes in the epigenetic status of the SOX-9 promoter in human osteoarthritic cartilage. J Bone Miner Res. 2013;28:1050-60 pubmed publisher
    ..These findings suggest that hip OA is associated with a change in the epigenetic status of SOX-9 promoter, including increased DNA methylation and altered histone modification. ..
  7. Young I, Zuccollo J, Maltby E, Broderick N. Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation. J Med Genet. 1992;29:251-2 pubmed
    ..This is the second case of campomelic dysplasia in which a rearrangement involving the long arm of chromosome 17 has been identified, indicating that this is likely to be the site of the campomelic dysplasia locus. ..
  8. Aigner T, Gebhard P, Schmid E, Bau B, Harley V, Poschl E. SOX9 expression does not correlate with type II collagen expression in adult articular chondrocytes. Matrix Biol. 2003;22:363-72 pubmed
    ..A recent candidate, the transcription factor SOX9, has elicited much interest as it is suggested to be a central factor in chondrocytic differentiation during ..
  9. Wang H, McKnight N, Zhang T, Lu M, Balk S, Yuan X. SOX9 is expressed in normal prostate basal cells and regulates androgen receptor expression in prostate cancer cells. Cancer Res. 2007;67:528-36 pubmed
    b>SOX9 is a member of the SOX [Sry-related high-mobility group (HMG) box] family of HMG DNA-binding domain transcription factors and is required for the development and differentiation of multiple cell lineages...

More Information

Publications83

  1. Thomsen M, Ambroisine L, Wynn S, Cheah K, Foster C, Fisher G, et al. SOX9 elevation in the prostate promotes proliferation and cooperates with PTEN loss to drive tumor formation. Cancer Res. 2010;70:979-87 pubmed publisher
    ..In murine embryonic prostate epithelia, the transcription factor SOX9 is required for proper prostate development...
  2. Furumatsu T, Tsuda M, Yoshida K, Taniguchi N, Ito T, Hashimoto M, et al. Sox9 and p300 cooperatively regulate chromatin-mediated transcription. J Biol Chem. 2005;280:35203-8 pubmed
    ..We have previously reported that the multifunctional coactivator p300 is a member of the Sox9 (Sry-type high mobility group box 9)-related transcriptional apparatus and activates Sox9-dependent transcription ..
  3. Cameron F, Sinclair A. Mutations in SRY and SOX9: testis-determining genes. Hum Mutat. 1997;9:388-95 pubmed
  4. Wehrli B, Huang W, de Crombrugghe B, Ayala A, Czerniak B. Sox9, a master regulator of chondrogenesis, distinguishes mesenchymal chondrosarcoma from other small blue round cell tumors. Hum Pathol. 2003;34:263-9 pubmed
    ..The transcription factor Sox9 has been demonstrated to be a master regulator of the differentiation of mesenchymal cells into chondrocytes...
  5. de Santa Barbara P, Bonneaud N, Boizet B, Desclozeaux M, Moniot B, Sudbeck P, et al. Direct interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-Müllerian hormone gene. Mol Cell Biol. 1998;18:6653-65 pubmed
    ..that the canonical SOX-binding site within the human AMH proximal promoter can bind the transcription factor SOX9, a Sertoli cell factor closely associated with Sertoli cell differentiation and AMH expression...
  6. Krahl D, Sellheyer K. Sox9, more than a marker of the outer root sheath: spatiotemporal expression pattern during human cutaneous embryogenesis. J Cutan Pathol. 2010;37:350-6 pubmed publisher
    The sex-determining gene Sox9 was recently unexpectedly found to have an essential role in outer root sheath differentiation. It was also characterized as a general marker of basal cell carcinoma...
  7. Aleman A, Adrien L, Lopez Serra L, Cordon Cardo C, Esteller M, Belbin T, et al. Identification of DNA hypermethylation of SOX9 in association with bladder cancer progression using CpG microarrays. Br J Cancer. 2008;98:466-73 pubmed
    ..Promoter hypermethylation of 84 clones was simultaneously shown in at least 70% of the tumours. SOX9 was selected for further validation by bisulphite genomic sequencing and methylation-specific polymerase chain ..
  8. Jay P, Berta P, Blache P. Expression of the carcinoembryonic antigen gene is inhibited by SOX9 in human colon carcinoma cells. Cancer Res. 2005;65:2193-8 pubmed
    ..In this report, we show that the transcription factor SOX9 down-regulates CEA gene expression and, as a probable consequence, induces apoptosis in the human colon carcinoma ..
  9. McDowall S, Argentaro A, Ranganathan S, Weller P, Mertin S, Mansour S, et al. Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia. J Biol Chem. 1999;274:24023-30 pubmed
    In humans, mutations in SOX9 result in a skeletal malformation syndrome, campomelic dysplasia (CD)...
  10. Foster J, Dominguez Steglich M, Guioli S, Kwok C, Weller P, Stevanovic M, et al. Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene. Nature. 1994;372:525-30 pubmed
    ..breakpoint from a sex-reversed patient with campomelic dysplasia, followed by mutation analysis of an adjacent gene, indicates that SOX9, an SRY-related gene, is involved in both bone formation and control of testis development.
  11. Wagner T, Wirth J, Meyer J, Zabel B, Held M, Zimmer J, et al. Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9. Cell. 1994;79:1111-20 pubmed
    ..autosomal XY sex reversal locus, SRA1, associated with the skeletal malformation syndrome campomelic dysplasia (CMPD1), has been placed at distal 17q...
  12. Kawaguchi Y. Sox9 and programming of liver and pancreatic progenitors. J Clin Invest. 2013;123:1881-6 pubmed publisher
    ..biology have greatly expanded our understanding of progenitor cell programming and the fundamental roles that Sox9 plays in liver and pancreas organogenesis...
  13. Benko S, Fantes J, Amiel J, Kleinjan D, Thomas S, Ramsay J, et al. Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence. Nat Genet. 2009;41:359-64 pubmed publisher
    ..06-1.23 Mb upstream of SOX9, and microdeletions both approximately 1.5 Mb centromeric and approximately 1.5 Mb telomeric of SOX9...
  14. Moog U, Jansen N, Scherer G, Schrander Stumpel C. Acampomelic campomelic syndrome. Am J Med Genet. 2001;104:239-45 pubmed
    ..Sex reversal occurs in most patients with an XY karyotype. CD is caused by heterozygous mutations in the SOX9 gene, an SRY-related gene at 17q24.3-q25.1 with pleiotropic effects on the skeletal and genital systems...
  15. Cheng A, Genever P. SOX9 determines RUNX2 transactivity by directing intracellular degradation. J Bone Miner Res. 2010;25:2680-9 pubmed publisher
    ..Among these, RUNX2 and SOX9 are the major transcription factors for osteogenesis and chondrogenesis, respectively...
  16. Carbonnelle Puscian A, Vidal V, Laurendeau I, Valeyrie Allanore L, Vidaud D, Bieche I, et al. SOX9 expression increases with malignant potential in tumors from patients with neurofibromatosis 1 and is not correlated to desert hedgehog. Hum Pathol. 2011;42:434-43 pubmed publisher
    We investigated the expression of SOX9, a transcription factor linked to the hedgehog pathways, and desert hedgehog, previously shown to be expressed in a malignant peripheral nerve sheath tumor cell line, in neurofibromatosis 1 tumors (..
  17. Jenkins E, Moss J, Pace J, Bridgewater L. The new collagen gene COL27A1 contains SOX9-responsive enhancer elements. Matrix Biol. 2005;24:177-84 pubmed
    ..regulatory mechanisms that govern the expression of COL27A1 in cartilage, and in particular to determine whether SOX9, a key regulator of chondrogenesis, could activate COL27A1...
  18. Huang W, Zhou X, Lefebvre V, de Crombrugghe B. Phosphorylation of SOX9 by cyclic AMP-dependent protein kinase A enhances SOX9's ability to transactivate a Col2a1 chondrocyte-specific enhancer. Mol Cell Biol. 2000;20:4149-58 pubmed
    b>Sox9 is a high-mobility-group domain-containing transcription factor required for chondrocyte differentiation and cartilage formation...
  19. Drivdahl R, Haugk K, Sprenger C, Nelson P, Tennant M, Plymate S. Suppression of growth and tumorigenicity in the prostate tumor cell line M12 by overexpression of the transcription factor SOX9. Oncogene. 2004;23:4584-93 pubmed
    ..overproducing the mac25 protein (M12/mac25) indicated upregulation of the sex determining transcription factor SOX9. In this study, we have confirmed increased expression of SOX9 in M12/mac25 cells and have further investigated the ..
  20. Tommerup N, Schempp W, Meinecke P, Pedersen S, Bolund L, Brandt C, et al. Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1. Nat Genet. 1993;4:170-4 pubmed
    We have mapped the autosomal sex reversal locus, SRA1, associated with campomelic dysplasia (CMPD1) to 17q24.3-q25.1 by three independent apparently balanced de novo reciprocal translocations...
  21. Komatsu T, Mizusaki H, Mukai T, Ogawa H, Baba D, Shirakawa M, et al. Small ubiquitin-like modifier 1 (SUMO-1) modification of the synergy control motif of Ad4 binding protein/steroidogenic factor 1 (Ad4BP/SF-1) regulates synergistic transcription between Ad4BP/SF-1 and Sox9. Mol Endocrinol. 2004;18:2451-62 pubmed
    ..predominantly under the control of Ad4BP/SF-1 and, moreover, its transcription is regulated synergistically with Sox9, Gata4, and Wt1...
  22. Dupasquier S, Abdel Samad R, Glazer R, Bastide P, Jay P, Joubert D, et al. A new mechanism of SOX9 action to regulate PKCalpha expression in the intestine epithelium. J Cell Sci. 2009;122:2191-6 pubmed publisher
    ..expression of PKCalpha in proliferating intestinal epithelial cells is repressed both in vitro and in vivo by the SOX9 transcription factor...
  23. Darido C, Buchert M, Pannequin J, Bastide P, Zalzali H, Mantamadiotis T, et al. Defective claudin-7 regulation by Tcf-4 and Sox-9 disrupts the polarity and increases the tumorigenicity of colorectal cancer cells. Cancer Res. 2008;68:4258-68 pubmed publisher
    ..This negative regulation seems to be defective in CRC, possibly due to decreased Sox-9 activity, and the resulting claudin-7 overexpression promotes a loss of tumor cell polarization and contributes to tumorigenesis. ..
  24. Guo W, Keckesova Z, Donaher J, Shibue T, Tischler V, Reinhardt F, et al. Slug and Sox9 cooperatively determine the mammary stem cell state. Cell. 2012;148:1015-28 pubmed publisher
    ..We have identified two TFs, Slug and Sox9, that act cooperatively to determine the mammary stem cell (MaSC) state...
  25. Tew S, Clegg P, Brew C, Redmond C, Hardingham T. SOX9 transduction of a human chondrocytic cell line identifies novel genes regulated in primary human chondrocytes and in osteoarthritis. Arthritis Res Ther. 2007;9:R107 pubmed
    The transcription factor SOX9 is important in maintaining the chondrocyte phenotype...
  26. Malki S, Bibeau F, Notarnicola C, Roques S, Berta P, Poulat F, et al. Expression and biological role of the prostaglandin D synthase/SOX9 pathway in human ovarian cancer cells. Cancer Lett. 2007;255:182-93 pubmed
    ..In this study, we show that the embryonic male prostaglandin D synthase (Pgds)/SOX9 pathway is expressed at both the RNA and protein levels in different types of human ovarian tumors, pointing to ..
  27. Preiss S, Argentaro A, Clayton A, John A, Jans D, Ogata T, et al. Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation. J Biol Chem. 2001;276:27864-72 pubmed
    Human mutations in the transcription factor SOX9 cause campomelic dysplasia/autosomal sex reversal...
  28. Zhou R, Bonneaud N, Yuan C, de Santa Barbara P, Boizet B, Schomber T, et al. SOX9 interacts with a component of the human thyroid hormone receptor-associated protein complex. Nucleic Acids Res. 2002;30:3245-52 pubmed
    b>SOX9 transcription factor is involved in chondrocyte differentiation and male sex determination. Heterozygous defects in the human SOX9 gene cause campomelic dysplasia...
  29. Akiyama H, Lyons J, Mori Akiyama Y, Yang X, Zhang R, Zhang Z, et al. Interactions between Sox9 and beta-catenin control chondrocyte differentiation. Genes Dev. 2004;18:1072-87 pubmed
    ..Here we show the existence of physical and functional interactions between beta-catenin and Sox9, a transcription factor that is required in successive steps of chondrogenesis...
  30. Candy P, Phillips M, Redfern A, Colley S, Davidson J, Stuart L, et al. Notch-induced transcription factors are predictive of survival and 5-fluorouracil response in colorectal cancer patients. Br J Cancer. 2013;109:1023-30 pubmed publisher
    ..The purpose of this study was to evaluate the expression of Notch-induced transcription factors (NTFs) HEY1, HES1 and SOX9 in colorectal cancer (CRC) patients to determine their clinicopathologic and prognostic significance...
  31. Wang L, He S, Yuan J, Mao X, Cao Y, Zong J, et al. Oncogenic role of SOX9 expression in human malignant glioma. Med Oncol. 2012;29:3484-90 pubmed publisher
    b>SOX9 belongs to the SOX (Sry-related high-mobility group box) family and acts as a transcription factor that plays a central role in the development and differentiation of multiple cell lineages...
  32. Sock E, Pagon R, Keymolen K, Lissens W, Wegner M, Scherer G. Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia. Hum Mol Genet. 2003;12:1439-47 pubmed
    ..CD results from haploinsufficiency for the transcription factor SOX9, a key regulator at various steps of cartilage differentiation and of early testis development...
  33. Hata K, Nishimura R, Muramatsu S, Matsuda A, Matsubara T, Amano K, et al. Paraspeckle protein p54nrb links Sox9-mediated transcription with RNA processing during chondrogenesis in mice. J Clin Invest. 2008;118:3098-108 pubmed publisher
    The Sox9 transcription factor plays an essential role in promoting chondrogenesis and regulating expression of chondrocyte extracellular-matrix genes...
  34. Kypriotou M, Fossard Demoor M, Chadjichristos C, Ghayor C, de Crombrugghe B, Pujol J, et al. SOX9 exerts a bifunctional effect on type II collagen gene (COL2A1) expression in chondrocytes depending on the differentiation state. DNA Cell Biol. 2003;22:119-29 pubmed
    As a key transcription factor in cartilage formation, SOX9 is a potent activator of type II collagen expression, a phenotypic marker of articular chondrocytes...
  35. Ling S, Chang X, Schultz L, Lee T, Chaux A, Marchionni L, et al. An EGFR-ERK-SOX9 signaling cascade links urothelial development and regeneration to cancer. Cancer Res. 2011;71:3812-21 pubmed publisher
    ..the expression, regulation, and function of the transcriptional regulator SRY-related high-mobility group box 9 (Sox9) in urothelial development, injury repair, and cancer...
  36. Ikegami D, Akiyama H, Suzuki A, Nakamura T, Nakano T, Yoshikawa H, et al. Sox9 sustains chondrocyte survival and hypertrophy in part through Pik3ca-Akt pathways. Development. 2011;138:1507-19 pubmed publisher
    During endochondral bone formation, Sox9 expression starts in mesenchymal progenitors, continues in the round and flat chondrocyte stages at high levels, and ceases just prior to the hypertrophic chondrocyte stage...
  37. Blache P, van de Wetering M, Duluc I, Domon C, Berta P, Freund J, et al. SOX9 is an intestine crypt transcription factor, is regulated by the Wnt pathway, and represses the CDX2 and MUC2 genes. J Cell Biol. 2004;166:37-47 pubmed
    ..Here, we identified SOX9 in a SOX expression screening in the mouse fetal intestine...
  38. Wang G, Lunardi A, Zhang J, Chen Z, Ala U, Webster K, et al. Zbtb7a suppresses prostate cancer through repression of a Sox9-dependent pathway for cellular senescence bypass and tumor invasion. Nat Genet. 2013;45:739-746 pubmed publisher
    ..We show that ZBTB7A physically interacts with SOX9 and functionally antagonizes its transcriptional activity on key target genes such as MIA, which is involved in ..
  39. Hattori T, Eberspaecher H, Lu J, Zhang R, Nishida T, Kahyo T, et al. Interactions between PIAS proteins and SOX9 result in an increase in the cellular concentrations of SOX9. J Biol Chem. 2006;281:14417-28 pubmed
    We have identified PIAS1 (protein inhibitor of activated STAT-1), -3, -xalpha, and -xbeta as SOX9-associated polypeptides using the Gal4-based yeast two-hybrid system and a cDNA library derived from a chondrocytic cell line...
  40. Matheu A, Collado M, Wise C, Manterola L, Cekaite L, Tye A, et al. Oncogenicity of the developmental transcription factor Sox9. Cancer Res. 2012;72:1301-15 pubmed publisher
    b>SOX9 [sex-determining region Y (SRY)-box 9 protein], a high mobility group box transcription factor, plays critical roles during embryogenesis and its activity is required for development, differentiation, and lineage commitment in ..
  41. Sashikawa Kimura M, Mutoh H, Sugano K. SOX9 is expressed in normal stomach, intestinal metaplasia, and gastric carcinoma in humans. J Gastroenterol. 2011;46:1292-9 pubmed publisher
    b>SOX9 is a marker for stem cells in the intestine and overexpression of SOX9 is found in some types of cancer...
  42. Afonja O, Raaka B, Huang A, Das S, Zhao X, Helmer E, et al. RAR agonists stimulate SOX9 gene expression in breast cancer cell lines: evidence for a role in retinoid-mediated growth inhibition. Oncogene. 2002;21:7850-60 pubmed
    ..One candidate gene identified was SOX9, a member of the high mobility group (HMG) box gene family of transcription factors...
  43. Smyk M, Szafranski P, Startek M, Gambin A, Stankiewicz P. Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter. Chromosome Res. 2013;21:781-8 pubmed publisher
    Evolutionarily conserved transcription factor SOX9 is essential for the differentiation of chondrocytes and the development of testes...
  44. Lasala C, Schteingart H, Arouche N, Bedecarrás P, Grinspon R, Picard J, et al. SOX9 and SF1 are involved in cyclic AMP-mediated upregulation of anti-Mullerian gene expression in the testicular prepubertal Sertoli cell line SMAT1. Am J Physiol Endocrinol Metab. 2011;301:E539-47 pubmed publisher
    ..In this work we assessed whether SOX9, SF1, GATA4, and AP1 might represent alternative pathways involved in cAMP-mediated AMH upregulation, using real-..
  45. Huang Z, Hurley P, Simons B, Marchionni L, Berman D, Ross A, et al. Sox9 is required for prostate development and prostate cancer initiation. Oncotarget. 2012;3:651-63 pubmed
    ..we used conditional gene targeting and organ grafting, to describe conserved roles for the transcription factor Sox9 in the initiation of both prostate organogenesis and prostate carcinogenesis in murine models...
  46. Zhou C, Guo J, Zhu K, Zhang Q, Pan C, Xu W, et al. Elevated expression of SOX9 is related with the progression of gastric carcinoma. Diagn Cytopathol. 2011;39:105-9 pubmed publisher
    To investigate the SOX9 expression and its effects on promoting invasion and metastasis in the primary gastric adenocarcinomas...
  47. Kwok C, Weller P, Guioli S, Foster J, Mansour S, Zuffardi O, et al. Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal. Am J Hum Genet. 1995;57:1028-36 pubmed
    ..A mutation-screening strategy using SSCP was employed to identify mutations in SOX9, the chromosome 17q24 gene responsible for CD and autosomal sex reversal in man...
  48. Wunderle V, Critcher R, Hastie N, Goodfellow P, Schedl A. Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia. Proc Natl Acad Sci U S A. 1998;95:10649-54 pubmed
    ..Patients present with either heterozygous mutations in the SOX9 gene or chromosome rearrangements mapping at least 50 kb upstream of SOX9...
  49. Passeron T, Valencia J, Bertolotto C, Hoashi T, Le Pape E, Takahashi K, et al. SOX9 is a key player in ultraviolet B-induced melanocyte differentiation and pigmentation. Proc Natl Acad Sci U S A. 2007;104:13984-9 pubmed
    ..We report here that another SOX factor, SOX9, is expressed by melanocytes in neonatal and adult human skin and is up-regulated by UVB exposure...
  50. Bakos R, Maier T, Besch R, Mestel D, Ruzicka T, Sturm R, et al. Nestin and SOX9 and SOX10 transcription factors are coexpressed in melanoma. Exp Dermatol. 2010;19:e89-94 pubmed publisher
    ..and we recently demonstrated that its expression in melanoma cell lines is regulated by the transcription factors SOX9 and SOX10, but not BRN2...
  51. Cai C, Wang H, He H, Chen S, He L, Ma F, et al. ERG induces androgen receptor-mediated regulation of SOX9 in prostate cancer. J Clin Invest. 2013;123:1109-22 pubmed publisher
    ..Expression of the SOX9 transcription factor correlated with TMPRSS2:ERG fusion in 3 independent PCa cohorts, and ERG-dependent expression ..
  52. Furumatsu T, Tsuda M, Taniguchi N, Tajima Y, Asahara H. Smad3 induces chondrogenesis through the activation of SOX9 via CREB-binding protein/p300 recruitment. J Biol Chem. 2005;280:8343-50 pubmed
    The transcriptional activation by SRY-type high mobility group box 9 (SOX9) and the transforming growth factor beta (TGF-beta) signals are necessary for chondrogenic differentiation...
  53. Flammiger A, Besch R, Cook A, Maier T, Sturm R, Berking C. SOX9 and SOX10 but not BRN2 are required for nestin expression in human melanoma cells. J Invest Dermatol. 2009;129:945-53 pubmed publisher
    ..b>SOX9 and SOX10 have been shown to be expressed in melanocyte precursors, with SOX10 downregulated upon differentiation...
  54. Georg I, Bagheri Fam S, Knower K, Wieacker P, Scherer G, Harley V. Mutations of the SRY-responsive enhancer of SOX9 are uncommon in XY gonadal dysgenesis. Sex Dev. 2010;4:321-5 pubmed publisher
    During mouse sex determination, SRY upregulates the core testis-specific enhancer of Sox9, TESCO...
  55. Gordon C, Tan T, Benko S, Fitzpatrick D, Lyonnet S, Farlie P. Long-range regulation at the SOX9 locus in development and disease. J Med Genet. 2009;46:649-56 pubmed publisher
    The involvement of SOX9 in congenital skeletal malformation was demonstrated 15 years ago with the identification of mutations in and around the gene in patients with campomelic dysplasia (CD)...
  56. Lu B, Fang Y, Xu J, Wang L, Xu F, Xu E, et al. Analysis of SOX9 expression in colorectal cancer. Am J Clin Pathol. 2008;130:897-904 pubmed publisher
    Our purpose was to investigate the role of SOX9, a novel downstream molecule of beta-catenin, in colorectal cancer...
  57. Knower K, Kelly S, Ludbrook L, Bagheri Fam S, Sim H, Bernard P, et al. Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations. PLoS ONE. 2011;6:e17751 pubmed publisher
    In human embryogenesis, loss of SRY (sex determining region on Y), SOX9 (SRY-related HMG box 9) or SF1 (steroidogenic factor 1) function causes disorders of sex development (DSD)...
  58. Ninomiya S, Narahara K, Tsuji K, Yokoyama Y, Ito S, Seino Y. Acampomelic campomelic syndrome and sex reversal associated with de novo t(12;17) translocation. Am J Med Genet. 1995;56:31-4 pubmed
    ..17q breakpoint with campomelic syndrome (CMPS) and/or sex reversal (SR) has led to an assignment of the CMPS1/SRA1 locus to 17q24.3-->q25.1...
  59. Haag J, Gebhard P, Aigner T. SOX gene expression in human osteoarthritic cartilage. Pathobiology. 2008;75:195-9 pubmed publisher
    ..In contrast, SOX9 expression was fairly high in normal cartilage, amounting to approximately 20% of GAPDH levels...
  60. Meyer J, Sudbeck P, Held M, Wagner T, Schmitz M, Bricarelli F, et al. Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations. Hum Mol Genet. 1997;6:91-8 pubmed
    It has previously been shown that, in the heterozygous state, mutations in the SOX9 gene cause campomelic dysplasia (CD) and the often associated autosomal XY sex reversal...
  61. Wang H, Leav I, Ibaragi S, Wegner M, Hu G, Lu M, et al. SOX9 is expressed in human fetal prostate epithelium and enhances prostate cancer invasion. Cancer Res. 2008;68:1625-30 pubmed publisher
    b>SOX9 is a transcription factor that plays a critical role in the development of multiple tissues. We previously reported that SOX9 in normal human adult prostate was restricted to basal epithelium...
  62. Jiang S, Fang W, Hou Y, Huang S, Yen B, Chang J, et al. Upregulation of SOX9 in lung adenocarcinoma and its involvement in the regulation of cell growth and tumorigenicity. Clin Cancer Res. 2010;16:4363-73 pubmed publisher
    b>SOX9 is an important transcription factor required for development and has been implicated in several types of cancer. However, SOX9 has never been linked to lung cancer to date...
  63. Muller P, Crofts J, Newman B, Bridgewater L, Lin C, Gustafsson J, et al. SOX9 mediates the retinoic acid-induced HES-1 gene expression in human breast cancer cells. Breast Cancer Res Treat. 2010;120:317-26 pubmed publisher
    ..Here we show that retinoic acid induces HES-1 expression via upregulation of transcription factor SOX9. By expressing a dominant negative form of SOX9, disrupting endogenous SOX9 activity, the retinoic acid-induced HES-..
  64. Zhou C, Ye L, Ye S, Li Y, Zhang X, Xu X, et al. Clinical significance of SOX9 in human non-small cell lung cancer progression and overall patient survival. J Exp Clin Cancer Res. 2012;31:18 pubmed publisher
    Sex determining region Y (SRY)-related high mobility groupbox 9 (SOX9) is an important transcription factor required for development, which regulates the expression of target genes in the associated pathway...
  65. Benko S, Gordon C, Mallet D, Sreenivasan R, Thauvin Robinet C, Brendehaug A, et al. Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development. J Med Genet. 2011;48:825-30 pubmed publisher
    ..the SRY gene triggers testicular differentiation and subsequent male development via its action on a single gene, SOX9. The supporting cell lineage of the bipotential gonad will differentiate as testicular Sertoli cells if SOX9 is ..
  66. Tew S, Hardingham T. Regulation of SOX9 mRNA in human articular chondrocytes involving p38 MAPK activation and mRNA stabilization. J Biol Chem. 2006;281:39471-9 pubmed
    ..Recently we have shown that overexpression of the transcription factor SOX9 greatly enhanced re-expression of the phenotype in three-dimensional aggregate cultures...
  67. Tanaka T, Kuroki T, Adachi T, Ono S, Hirabaru M, Soyama A, et al. Evaluation of SOX9 expression in pancreatic ductal adenocarcinoma and intraductal papillary mucinous neoplasm. Pancreas. 2013;42:488-93 pubmed publisher
    Sex-determining region Y (SRY) box 9 (SOX9) is an important transcription factor required for development and has been implicated in several types of cancer...
  68. Chakravarty G, Moroz K, Makridakis N, Lloyd S, Galvez S, Canavello P, et al. Prognostic significance of cytoplasmic SOX9 in invasive ductal carcinoma and metastatic breast cancer. Exp Biol Med (Maywood). 2011;236:145-55 pubmed publisher
    b>SOX9, a high mobility group (HMG) box transcription factor, is required for development, differentiation and lineage commitment...
  69. Wang H, He L, Ma F, Regan M, Balk S, Richardson A, et al. SOX9 regulates low density lipoprotein receptor-related protein 6 (LRP6) and T-cell factor 4 (TCF4) expression and Wnt/?-catenin activation in breast cancer. J Biol Chem. 2013;288:6478-87 pubmed publisher
    ..Our immunohistochemistry study confirmed that SOX9, one of the BL-BCa signature genes, was expressed by most BL-BCa, and its expression correlated with indicators of ..
  70. Ogawa H, Komatsu T, Hiraoka Y, Morohashi K. Transcriptional Suppression by Transient Recruitment of ARIP4 to Sumoylated nuclear receptor Ad4BP/SF-1. Mol Biol Cell. 2009;20:4235-45 pubmed publisher
    ..These findings suggest that ARIP4 may be a cofactor that modulates SUMO-mediated fine-tuning of transcriptional suppression. ..
  71. Kou I, Ikegawa S. SOX9-dependent and -independent transcriptional regulation of human cartilage link protein. J Biol Chem. 2004;279:50942-8 pubmed
    ..Here, we investigated the regulation of CRTL1 by SOX9, a key regulator of cartilage matrix genes and chondrogenesis...
  72. Zhang X, Cowper Sal lari R, Bailey S, Moore J, Lupien M. Integrative functional genomics identifies an enhancer looping to the SOX9 gene disrupted by the 17q24.3 prostate cancer risk locus. Genome Res. 2012;22:1437-46 pubmed publisher
    ..a PCa-specific enhancer within the rs1859962 risk LD block that establishes a 1-Mb chromatin loop with the SOX9 gene. The rs8072254 and rs1859961 SNPs mapping to this enhancer impose allele-specific gene expression...
  73. Sudbeck P, Schmitz M, Baeuerle P, Scherer G. Sex reversal by loss of the C-terminal transactivation domain of human SOX9. Nat Genet. 1996;13:230-2 pubmed
    Haploinsufficiency for SOX9 has recently been identified as the cause for both campomelic dysplasia (CD), a human skeletal malformation syndrome, and the associated autosomal XY sex reversal...
  74. Haller R, Schwanbeck R, Martini S, Bernoth K, Kramer J, Just U, et al. Notch1 signaling regulates chondrogenic lineage determination through Sox9 activation. Cell Death Differ. 2012;19:461-9 pubmed publisher
    ..Recently, we have shown that Sox9 is most likely a primary target gene of Notch1 signaling in embryonic stem cells (ESCs)...