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

Top Publications

  1. pmc Oncogenicity of the developmental transcription factor Sox9
    Ander Matheu
    Division of Stem Cell Biology and Developmental Genetics, MRC National Institute for Medical Research, Mill Hill, London, United Kingdom
    Cancer Res 72:1301-15. 2012
  2. ncbi Co-expression of SOX9 and SOX10 during melanocytic differentiation in vitro
    Anthony L Cook
    Melanogenix Group, Division of Molecular Genetics and Development, Institute for Molecular Bioscience, University of Queensland, Brisbane QLD 4072, Australia
    Exp Cell Res 308:222-35. 2005
  3. doi Sox9, more than a marker of the outer root sheath: spatiotemporal expression pattern during human cutaneous embryogenesis
    Dieter Krahl
    Institut für Dermatohistologie, Heidelberg, Germany
    J Cutan Pathol 37:350-6. 2010
  4. pmc An EGFR-ERK-SOX9 signaling cascade links urothelial development and regeneration to cancer
    Shizhang Ling
    Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21231, USA
    Cancer Res 71:3812-21. 2011
  5. pmc Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia
    Miao Sun
    McKusick Zhang Center for Genetic Medicine and State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
    Am J Hum Genet 84:807-13. 2009
  6. doi SOX9 expression increases with malignant potential in tumors from patients with neurofibromatosis 1 and is not correlated to desert hedgehog
    Amélie Carbonnelle-Puscian
    AP HP, Groupe Hospitalier Henri Mondor Albert Chenevier, Department of Pathology, Universite Paris 12, Faculte de Medecine, F 94010 Creteil, France
    Hum Pathol 42:434-43. 2011
  7. doi Sox9 sustains chondrocyte survival and hypertrophy in part through Pik3ca-Akt pathways
    Daisuke Ikegami
    Departments of Bone and Cartilage Biology, Osaka University Graduate School of Medicine, 2 2 Yamadaoka, Suita, Osaka, Japan
    Development 138:1507-19. 2011
  8. ncbi 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
    Tomoko Komatsu
    Department of Developmental Biology, National Institute for Basic Biology, Okazaki 444 8787, Japan
    Mol Endocrinol 18:2451-62. 2004
  9. ncbi SOX9-dependent and -independent transcriptional regulation of human cartilage link protein
    Ikuyo Kou
    Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, Tokyo 108 8639, Japan
    J Biol Chem 279:50942-8. 2004
  10. doi Defective claudin-7 regulation by Tcf-4 and Sox-9 disrupts the polarity and increases the tumorigenicity of colorectal cancer cells
    Charbel Darido
    Centre National de la Recherche Scientifique, UMR 5203, Institut de Genomique Fonctionnelle, INSERM U661, Universite Montpellier 1, 2, Montpellier, France
    Cancer Res 68:4258-68. 2008

Research Grants

  1. VERONIQUE M LEFEBVRE; Fiscal Year: 2015
  2. TIMOTHY JOSEPH MEAD; Fiscal Year: 2015
  3. VERONIQUE M LEFEBVRE; Fiscal Year: 2014
  4. ESE 1 a novel transcriptional regulator of cartilage remodeling
    MARY GOLDRING; Fiscal Year: 2009
  5. Mary B Goldring; Fiscal Year: 2014
  6. The role of microRNAs in chondrogenesis and arthritis
    Hiroshi Asahara; Fiscal Year: 2009
  7. Hiroshi Asahara; Fiscal Year: 2014
  8. Rosa A Serra; Fiscal Year: 2016
  9. Debora Sinner; Fiscal Year: 2016
  10. Sox9 in TGF-??-mediated maintenance of chondrocyte phenotype
    Jessica Perez; Fiscal Year: 2013

Detail Information

Publications221 found, 100 shown here

  1. pmc Oncogenicity of the developmental transcription factor Sox9
    Ander Matheu
    Division of Stem Cell Biology and Developmental Genetics, MRC National Institute for Medical Research, Mill Hill, London, United Kingdom
    Cancer Res 72:1301-15. 2012
    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 ..
  2. ncbi Co-expression of SOX9 and SOX10 during melanocytic differentiation in vitro
    Anthony L Cook
    Melanogenix Group, Division of Molecular Genetics and Development, Institute for Molecular Bioscience, University of Queensland, Brisbane QLD 4072, Australia
    Exp Cell Res 308:222-35. 2005
    ..A novel finding implicates a second SOX protein, SOX9, as a potential melanogenic transcriptional regulator, as its expression level is increased following the down-..
  3. doi Sox9, more than a marker of the outer root sheath: spatiotemporal expression pattern during human cutaneous embryogenesis
    Dieter Krahl
    Institut für Dermatohistologie, Heidelberg, Germany
    J Cutan Pathol 37:350-6. 2010
    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...
  4. pmc An EGFR-ERK-SOX9 signaling cascade links urothelial development and regeneration to cancer
    Shizhang Ling
    Department of Pathology, The Johns Hopkins University School of Medicine, Baltimore, Maryland 21231, USA
    Cancer Res 71:3812-21. 2011
    ..the expression, regulation, and function of the transcriptional regulator SRY-related high-mobility group box 9 (Sox9) in urothelial development, injury repair, and cancer...
  5. pmc Copy-number mutations on chromosome 17q24.2-q24.3 in congenital generalized hypertrichosis terminalis with or without gingival hyperplasia
    Miao Sun
    McKusick Zhang Center for Genetic Medicine and State Key Laboratory of Medical Molecular Biology, Institute of Basic Medical Sciences, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China
    Am J Hum Genet 84:807-13. 2009
    ..Thus, pathogenic copy-number mutations on 17q24.2-q24.3 are responsible for CGHT with or without gingival hyperplasia. Our work identifies CGHT as a genomic disorder...
  6. doi SOX9 expression increases with malignant potential in tumors from patients with neurofibromatosis 1 and is not correlated to desert hedgehog
    Amélie Carbonnelle-Puscian
    AP HP, Groupe Hospitalier Henri Mondor Albert Chenevier, Department of Pathology, Universite Paris 12, Faculte de Medecine, F 94010 Creteil, France
    Hum Pathol 42:434-43. 2011
    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 (..
  7. doi Sox9 sustains chondrocyte survival and hypertrophy in part through Pik3ca-Akt pathways
    Daisuke Ikegami
    Departments of Bone and Cartilage Biology, Osaka University Graduate School of Medicine, 2 2 Yamadaoka, Suita, Osaka, Japan
    Development 138:1507-19. 2011
    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...
  8. ncbi 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
    Tomoko Komatsu
    Department of Developmental Biology, National Institute for Basic Biology, Okazaki 444 8787, Japan
    Mol Endocrinol 18:2451-62. 2004
    ..predominantly under the control of Ad4BP/SF-1 and, moreover, its transcription is regulated synergistically with Sox9, Gata4, and Wt1...
  9. ncbi SOX9-dependent and -independent transcriptional regulation of human cartilage link protein
    Ikuyo Kou
    Laboratory for Bone and Joint Diseases, SNP Research Center, RIKEN, Tokyo 108 8639, Japan
    J Biol Chem 279:50942-8. 2004
    ..Here, we investigated the regulation of CRTL1 by SOX9, a key regulator of cartilage matrix genes and chondrogenesis...
  10. doi Defective claudin-7 regulation by Tcf-4 and Sox-9 disrupts the polarity and increases the tumorigenicity of colorectal cancer cells
    Charbel Darido
    Centre National de la Recherche Scientifique, UMR 5203, Institut de Genomique Fonctionnelle, INSERM U661, Universite Montpellier 1, 2, Montpellier, France
    Cancer Res 68:4258-68. 2008
    ..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...
  11. pmc Clinical significance of SOX9 in human non-small cell lung cancer progression and overall patient survival
    Chun Hui Zhou
    Department of Biochemistry and Molecular Biology, School of Medicine, Shenzhen University, Shen Zhen, China
    J Exp Clin Cancer Res 31:18. 2012
    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...
  12. ncbi Sex reversal by loss of the C-terminal transactivation domain of human SOX9
    P Sudbeck
    Institute of Human Genetics, University of Freiburg, Germany
    Nat Genet 13:230-2. 1996
    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...
  13. ncbi Interactions between PIAS proteins and SOX9 result in an increase in the cellular concentrations of SOX9
    Takako Hattori
    Department of Molecular Genetics, University of Texas M D Anderson Cancer Center, Houston, Texas 77030, USA
    J Biol Chem 281:14417-28. 2006
    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...
  14. pmc Role of Sox-9, ER81 and VE-cadherin in retinoic acid-mediated trans-differentiation of breast cancer cells
    Yoshimi Endo
    Lombardi Comprehensive Cancer Center, Department of Oncology, Georgetown University, Washington DC, United States of America
    PLoS ONE 3:e2714. 2008
    ....
  15. pmc Brachyury, SOX-9, and podoplanin, new markers in the skull base chordoma vs chondrosarcoma differential: a tissue microarray-based comparative analysis
    Gerard J Oakley
    Department of Pathology, University of Pittsburgh Medical Center, Pittsburgh, PA 15261, USA
    Mod Pathol 21:1461-9. 2008
    ..Podoplanin still remains the only positive marker for chondrosarcoma, though its accuracy is less than previously reported...
  16. pmc Involvement of SOX-9 and FGF-23 in RUNX-2 regulation in osteoarthritic chondrocytes
    Timoklia Orfanidou
    Laboratory of Cytogenetics and Medical Genetics, University of Thessaly, Medical School, Larissa, Greece
    J Cell Mol Med 13:3186-94. 2009
    ....
  17. ncbi Acampomelic campomelic syndrome and sex reversal associated with de novo t(12;17) translocation
    S Ninomiya
    Department of Pediatrics, Okayama University Medical School, Japan
    Am J Med Genet 56:31-4. 1995
    ..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...
  18. ncbi Mutations in SRY and SOX9: testis-determining genes
    F J Cameron
    Department of Paediatrics, University of Melbourne, Royal Children s Hospital, Victoria, Australia
    Hum Mutat 9:388-95. 1997
  19. ncbi Functional and structural studies of wild type SOX9 and mutations causing campomelic dysplasia
    S McDowall
    Howard Florey Institute of Experimental Physiology and Medicine, University of Melbourne, Parkville 3052, Australia
    J Biol Chem 274:24023-30. 1999
    In humans, mutations in SOX9 result in a skeletal malformation syndrome, campomelic dysplasia (CD)...
  20. ncbi Compound effects of point mutations causing campomelic dysplasia/autosomal sex reversal upon SOX9 structure, nuclear transport, DNA binding, and transcriptional activation
    S Preiss
    Department of Genetics, University of Melbourne, Howard Florey Institute, University of Melbourne, Parkville 3052, Australia
    J Biol Chem 276:27864-72. 2001
    Human mutations in the transcription factor SOX9 cause campomelic dysplasia/autosomal sex reversal...
  21. ncbi Loss of DNA-dependent dimerization of the transcription factor SOX9 as a cause for campomelic dysplasia
    Elisabeth Sock
    Institut fur Biochemie, Universitat Erlangen, D 91054 Erlangen, Germany
    Hum Mol Genet 12:1439-47. 2003
    ..CD results from haploinsufficiency for the transcription factor SOX9, a key regulator at various steps of cartilage differentiation and of early testis development...
  22. pmc Interactions between Sox9 and beta-catenin control chondrocyte differentiation
    Haruhiko Akiyama
    Department of Molecular Genetics, The University of Texas M D Anderson Cancer Center, Houston, TX 77030, USA
    Genes Dev 18:1072-87. 2004
    ..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...
  23. ncbi Smad3 induces chondrogenesis through the activation of SOX9 via CREB-binding protein/p300 recruitment
    Takayuki Furumatsu
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California 92037, USA
    J Biol Chem 280:8343-50. 2005
    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...
  24. pmc SOX9 is a key player in ultraviolet B-induced melanocyte differentiation and pigmentation
    Thierry Passeron
    Pigment Cell Biology Section, Laboratory of Cell Biology, National Cancer Institute, National Institutes of Health, Bethesda, MD 20814, USA
    Proc Natl Acad Sci U S A 104:13984-9. 2007
    ..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...
  25. pmc SOX9 transduction of a human chondrocytic cell line identifies novel genes regulated in primary human chondrocytes and in osteoarthritis
    Simon R Tew
    UK Centre for Tissue Engineering, Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Michael Smith Building, Oxford Road, Manchester M13 9PT, UK
    Arthritis Res Ther 9:R107. 2007
    The transcription factor SOX9 is important in maintaining the chondrocyte phenotype...
  26. doi SOX9 expression is a general marker of basal cell carcinoma and adnexal-related neoplasms
    Valerie P I Vidal
    INSERM, U636, Nice, France
    J Cutan Pathol 35:373-9. 2008
    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...
  27. doi Analysis of SOX9 expression in colorectal cancer
    Bingjian Lu
    Department of Pathology, School of Medicine, Zhejiang University Department of Anatomical and Cellular Pathology, the Affiliated Women s Hospital, School of Medicine, Zhejiang University, Hangzhou, China
    Am J Clin Pathol 130:897-904. 2008
    Our purpose was to investigate the role of SOX9, a novel downstream molecule of beta-catenin, in colorectal cancer...
  28. doi SOX9 mediates the retinoic acid-induced HES-1 gene expression in human breast cancer cells
    Patrick Muller
    Department of Biosciences and Nutrition, Karolinska Institutet, Novum, 141 57, Huddinge, Sweden
    Breast Cancer Res Treat 120:317-26. 2010
    ..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-..
  29. doi Long-range regulation at the SOX9 locus in development and disease
    C T Gordon
    Craniofacial Development Laboratory, Murdoch Children s Research Institute, Royal Children s Hospital, Parkville, VIC 3052, Australia
    J Med Genet 46:649-56. 2009
    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)...
  30. doi Nestin and SOX9 and SOX10 transcription factors are coexpressed in melanoma
    Renato M Bakos
    Department of Dermatology, Ludwig Maximilian University of Munich, Munich, Germany
    Exp Dermatol 19:e89-94. 2010
    ..and we recently demonstrated that its expression in melanoma cell lines is regulated by the transcription factors SOX9 and SOX10, but not BRN2...
  31. doi Mutations of the SRY-responsive enhancer of SOX9 are uncommon in XY gonadal dysgenesis
    I Georg
    Institute of Human Genetics, University of Freiburg, Freiburg, Germany
    Sex Dev 4:321-5. 2010
    During mouse sex determination, SRY upregulates the core testis-specific enhancer of Sox9, TESCO...
  32. doi Prognostic significance of cytoplasmic SOX9 in invasive ductal carcinoma and metastatic breast cancer
    Geetika Chakravarty
    Department of Pharmacology, School of Medicine, TUHSC, Tulane University, New Orleans, LA, USA
    Exp Biol Med (Maywood) 236:145-55. 2011
    b>SOX9, a high mobility group (HMG) box transcription factor, is required for development, differentiation and lineage commitment...
  33. pmc Failure of SOX9 regulation in 46XY disorders of sex development with SRY, SOX9 and SF1 mutations
    Kevin C Knower
    Molecular Genetics and Development, Prince Henry s Institute, Melbourne, Victoria, Australia
    PLoS ONE 6:e17751. 2011
    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)...
  34. doi SOX9 is expressed in normal stomach, intestinal metaplasia, and gastric carcinoma in humans
    Miho Sashikawa Kimura
    Division of Gastroenterology, Department of Medicine, Jichi Medical University, 3311 1 Yakushiji, Shimotsuke, Tochigi 329 0498, Japan
    J Gastroenterol 46:1292-9. 2011
    b>SOX9 is a marker for stem cells in the intestine and overexpression of SOX9 is found in some types of cancer...
  35. pmc Notch1 signaling regulates chondrogenic lineage determination through Sox9 activation
    R Haller
    Department of Virology and Cell Biology, University of Lubeck, Ratzeburger Allee 160, Lubeck, Germany
    Cell Death Differ 19:461-9. 2012
    ..Recently, we have shown that Sox9 is most likely a primary target gene of Notch1 signaling in embryonic stem cells (ESCs)...
  36. doi Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development
    Sabina Benko
    INSERM U 781, Hopital Necker Enfants Malades, Paris, France
    J Med Genet 48:825-30. 2011
    ..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 ..
  37. doi Evaluation of SOX9 expression in pancreatic ductal adenocarcinoma and intraductal papillary mucinous neoplasm
    Takayuki Tanaka
    Department of Surgery, Nagasaki University Graduate School of Biomedical Sciences, Sakamoto, Nagasaki, Japan
    Pancreas 42:488-93. 2013
    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...
  38. pmc SOX9 regulates low density lipoprotein receptor-related protein 6 (LRP6) and T-cell factor 4 (TCF4) expression and Wnt/β-catenin activation in breast cancer
    Hongyun Wang
    Division of Hematology Oncology, Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, Massachusetts 02215, USA
    J Biol Chem 288:6478-87. 2013
    ..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 ..
  39. pmc ERG induces androgen receptor-mediated regulation of SOX9 in prostate cancer
    Changmeng Cai
    Hematology Oncology Division, Department of Medicine, Beth Israel Deaconess Medical Center and Harvard Medical School, Boston, Massachusetts 02215, USA
    J Clin Invest 123:1109-22. 2013
    ..Expression of the SOX9 transcription factor correlated with TMPRSS2:ERG fusion in 3 independent PCa cohorts, and ERG-dependent expression ..
  40. pmc Sox9-regulated miRNA-574-3p inhibits chondrogenic differentiation of mesenchymal stem cells
    David Guérit
    INSERM, U 844, Hopital Saint Eloi, Montpellier, France
    PLoS ONE 8:e62582. 2013
    ..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)α is one gene specifically ..
  41. pmc Sox9 and programming of liver and pancreatic progenitors
    Yoshiya Kawaguchi
    Department of Clinical Application, Center for iPS Cell Research and Application CiRA, Kyoto University, Kyoto, Japan
    J Clin Invest 123:1881-6. 2013
    ..biology have greatly expanded our understanding of progenitor cell programming and the fundamental roles that Sox9 plays in liver and pancreas organogenesis...
  42. pmc Notch-induced transcription factors are predictive of survival and 5-fluorouracil response in colorectal cancer patients
    P A Candy
    Laboratory for Cancer Medicine, University of Western Australia Centre for Medical Research, Western Australian Institute for Medical Research, Perth, Western Australia 6000, Australia
    Br J Cancer 109:1023-30. 2013
    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.
  43. pmc Mutations in SOX9, the gene responsible for Campomelic dysplasia and autosomal sex reversal
    C Kwok
    Department of Genetics, University of Cambridge, United Kingdom
    Am J Hum Genet 57:1028-36. 1995
    ..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...
  44. ncbi Campomelic dysplasia and autosomal sex reversal caused by mutations in an SRY-related gene
    J W Foster
    Department of Genetics, University of Cambridge, UK
    Nature 372:525-30. 1994
    ..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.
  45. ncbi Autosomal sex reversal and campomelic dysplasia are caused by mutations in and around the SRY-related gene SOX9
    T Wagner
    Institute of Human Genetics, University of Freiburg, Federal Republic of Germany
    Cell 79:1111-20. 1994
    ..autosomal XY sex reversal locus, SRA1, associated with the skeletal malformation syndrome campomelic dysplasia (CMPD1), has been placed at distal 17q...
  46. ncbi Assignment of an autosomal sex reversal locus (SRA1) and campomelic dysplasia (CMPD1) to 17q24.3-q25.1
    N Tommerup
    Danish Center for Human Genome Research, John F Kennedy Institute, Glostrup
    Nat Genet 4:170-4. 1993
    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...
  47. pmc Deletion of long-range regulatory elements upstream of SOX9 causes campomelic dysplasia
    V M Wunderle
    Department of Genetics, University of Cambridge, Downing Street, CB2 3EH Cambridge, United Kingdom
    Proc Natl Acad Sci U S A 95:10649-54. 1998
    ..Patients present with either heterozygous mutations in the SOX9 gene or chromosome rearrangements mapping at least 50 kb upstream of SOX9...
  48. pmc Direct interaction of SRY-related protein SOX9 and steroidogenic factor 1 regulates transcription of the human anti-Müllerian hormone gene
    P de Santa Barbara
    Centre de Recherche de Biochime Macromoléculaire, CNRS UPR1142, 34293 Montpellier Cedex 5, France
    Mol Cell Biol 18:6653-65. 1998
    ..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...
  49. pmc Phosphorylation of SOX9 by cyclic AMP-dependent protein kinase A enhances SOX9's ability to transactivate a Col2a1 chondrocyte-specific enhancer
    W Huang
    Department of Molecular Genetics, The University of Texas M D Anderson Cancer Center, Houston, Texas 77030, USA
    Mol Cell Biol 20:4149-58. 2000
    b>Sox9 is a high-mobility-group domain-containing transcription factor required for chondrocyte differentiation and cartilage formation...
  50. pmc SOX9 interacts with a component of the human thyroid hormone receptor-associated protein complex
    Rongjia Zhou
    Department of Genetics, College of Life Sciences, Wuhan University, Wuhan 430072, People s Republic of China
    Nucleic Acids Res 30:3245-52. 2002
    b>SOX9 transcription factor is involved in chondrocyte differentiation and male sex determination. Heterozygous defects in the human SOX9 gene cause campomelic dysplasia...
  51. ncbi SOX9 exerts a bifunctional effect on type II collagen gene (COL2A1) expression in chondrocytes depending on the differentiation state
    Magdalini Kypriotou
    Laboratoire de Biochimie du Tissu Conjonctif, Faculte de Medecine, Caen Cedex, France
    DNA Cell Biol 22:119-29. 2003
    As a key transcription factor in cartilage formation, SOX9 is a potent activator of type II collagen expression, a phenotypic marker of articular chondrocytes...
  52. ncbi Transcriptional co-activators CREB-binding protein and p300 regulate chondrocyte-specific gene expression via association with Sox9
    Masanao Tsuda
    Department of Molecular and Experimental Medicine, The Scripps Research Institute, La Jolla, California 92037, USA
    J Biol Chem 278:27224-9. 2003
    ..b>Sox9 is a key transcription factor that is essential for chondrocyte differentiation and chondrocyte-specific gene ..
  53. ncbi SOX9 expression does not correlate with type II collagen expression in adult articular chondrocytes
    Thomas Aigner
    Cartilage Research, Department of Pathology, University of Erlangen Nurnberg, Krankenhausstrasse 8 10, Erlangen 91504, Germany
    Matrix Biol 22:363-72. 2003
    ..A recent candidate, the transcription factor SOX9, has elicited much interest as it is suggested to be a central factor in chondrocytic differentiation during ..
  54. pmc SOX9 is an intestine crypt transcription factor, is regulated by the Wnt pathway, and represses the CDX2 and MUC2 genes
    Philippe Blache
    Institut de Genetique Humaine, CNRS UPR1142, 141 rue de la Cardonille, 34396 Montpellier, Cedex 5, France
    J Cell Biol 166:37-47. 2004
    ..Here, we identified SOX9 in a SOX expression screening in the mouse fetal intestine...
  55. ncbi Expression of the carcinoembryonic antigen gene is inhibited by SOX9 in human colon carcinoma cells
    Philippe Jay
    Institut de Genetique Humaine, Centre National de la Recherche Scientifique UPR1142, Montpellier, France
    Cancer Res 65:2193-8. 2005
    ..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 ..
  56. pmc The new collagen gene COL27A1 contains SOX9-responsive enhancer elements
    Elizabeth Jenkins
    Department of Microbiology and Molecular Biology, Brigham Young University, 591 WIDB, Provo, Utah 84602, USA
    Matrix Biol 24:177-84. 2005
    ..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...
  57. ncbi Regulation of SOX9 mRNA in human articular chondrocytes involving p38 MAPK activation and mRNA stabilization
    Simon R Tew
    UK Centre for Tissue Engineering and Wellcome Trust Centre for Cell Matrix Research, Faculty of Life Sciences, University of Manchester, Michael Smith Building, Oxford Road, Manchester M13 9PT, United Kingdom
    J Biol Chem 281:39471-9. 2006
    ..Recently we have shown that overexpression of the transcription factor SOX9 greatly enhanced re-expression of the phenotype in three-dimensional aggregate cultures...
  58. ncbi SOX9 is expressed in normal prostate basal cells and regulates androgen receptor expression in prostate cancer cells
    Hongyun Wang
    Cancer Biology Program, Division of Hematology Oncology, Department of Medicine, Beth Israel Deaconess Medical Center, Urology Research Laboratory, Brigham and Women s Hospital and Harvard Medical School, Boston, Massachusetts 02215, USA
    Cancer Res 67:528-36. 2007
    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...
  59. pmc Identification of DNA hypermethylation of SOX9 in association with bladder cancer progression using CpG microarrays
    A Aleman
    Tumor Markers Group, Molecular Pathology Program, Spanish National Cancer Center, Madrid, Spain
    Br J Cancer 98:466-73. 2008
    ..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 ..
  60. doi SOX9 is expressed in human fetal prostate epithelium and enhances prostate cancer invasion
    Hongyun Wang
    Cancer Biology Program, Department of Medicine, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02215, USA
    Cancer Res 68:1625-30. 2008
    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...
  61. doi Highly conserved non-coding elements on either side of SOX9 associated with Pierre Robin sequence
    Sabina Benko
    INSERM U 781, Hopital Necker Enfants Malades, Paris, France
    Nat Genet 41:359-64. 2009
    ..06-1.23 Mb upstream of SOX9, and microdeletions both approximately 1.5 Mb centromeric and approximately 1.5 Mb telomeric of SOX9...
  62. doi Elevated expression of SOX9 is related with the progression of gastric carcinoma
    Cheng Jun Zhou
    Department of Digestive Disease, The Second Hospital, Shandong University, 247 Bei Yuan Street, Jinan, Shandong, People s Republic of China
    Diagn Cytopathol 39:105-9. 2011
    To investigate the SOX9 expression and its effects on promoting invasion and metastasis in the primary gastric adenocarcinomas...
  63. doi SOX9 determines RUNX2 transactivity by directing intracellular degradation
    Aixin Cheng
    Department of Biology, University of York, York, United Kingdom
    J Bone Miner Res 25:2680-9. 2010
    ..Among these, RUNX2 and SOX9 are the major transcription factors for osteogenesis and chondrogenesis, respectively...
  64. doi SOX9 and SF1 are involved in cyclic AMP-mediated upregulation of anti-Mullerian gene expression in the testicular prepubertal Sertoli cell line SMAT1
    Celina Lasala
    Centro de Investigaciones Endocrinologicas, Hospital de Niños R Gutiérrez, Gallo, Buenos Aires, Argentina
    Am J Physiol Endocrinol Metab 301:E539-47. 2011
    ..In this work we assessed whether SOX9, SF1, GATA4, and AP1 might represent alternative pathways involved in cAMP-mediated AMH upregulation, using real-..
  65. pmc Integrative functional genomics identifies an enhancer looping to the SOX9 gene disrupted by the 17q24.3 prostate cancer risk locus
    Xiaoyang Zhang
    Department of Genetics and Institute for Quantitative Biomedical Sciences, Norris Cotton Cancer Center, Dartmouth Medical School, Lebanon, New Hampshire 03756, USA
    Genome Res 22:1437-46. 2012
    ..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...
  66. doi Oncogenic role of SOX9 expression in human malignant glioma
    Liang Wang
    Department of Neurosurgery, Tangdu Hospital, Fourth Military Medical University, Xi an City, 710038, People s Republic of China
    Med Oncol 29:3484-90. 2012
    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...
  67. pmc Sox9 is required for prostate development and prostate cancer initiation
    Zhenhua Huang
    Department of Urology, Johns Hopkins Medical Institutions, Baltimore, MD, USA
    Oncotarget 3:651-63. 2012
    ..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...
  68. doi Chromosome conformation capture-on-chip analysis of long-range cis-interactions of the SOX9 promoter
    Marta Smyk
    Department of Medical Genetics, Institute of Mother and Child, Warsaw, Poland
    Chromosome Res 21:781-8. 2013
    Evolutionarily conserved transcription factor SOX9 is essential for the differentiation of chondrocytes and the development of testes...
  69. pmc Campomelic dysplasia associated with a de novo 2q;17q reciprocal translocation
    I D Young
    Department of Clinical Genetics, City Hospital, Nottingham
    J Med Genet 29:251-2. 1992
    ..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...
  70. ncbi Acampomelic campomelic syndrome
    U Moog
    Department of Clinical Genetics, University of Maastricht, PO Box 1475, 6201 BL Maastricht, The Netherlands
    Am J Med Genet 104:239-45. 2001
    ..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...
  71. doi SOX9 and SOX10 but not BRN2 are required for nestin expression in human melanoma cells
    Anna Flammiger
    Department of Dermatology and Allergology, Ludwig Maximilian University, Munich, Germany
    J Invest Dermatol 129:945-53. 2009
    ..b>SOX9 and SOX10 have been shown to be expressed in melanocyte precursors, with SOX10 downregulated upon differentiation...
  72. ncbi RAR agonists stimulate SOX9 gene expression in breast cancer cell lines: evidence for a role in retinoid-mediated growth inhibition
    Olubunmi Afonja
    Department of Pediatrics, New York University School of Medicine, 550 First Avenue, New York, New York, NY 10016, USA
    Oncogene 21:7850-60. 2002
    ..One candidate gene identified was SOX9, a member of the high mobility group (HMG) box gene family of transcription factors...
  73. doi SOX gene expression in human osteoarthritic cartilage
    Jochen Haag
    Institute of Pathology, University Hospital Leipzig, Leipzig, Germany
    Pathobiology 75:195-9. 2008
    ..Therefore, the aim of the present study was to present a thorough analysis of SOX gene expression in normal and osteoarthritic human adult cartilage...
  74. pmc SOX9 elevation in the prostate promotes proliferation and cooperates with PTEN loss to drive tumor formation
    Martin K Thomsen
    Section of Gene Function and Regulation, Institute of Cancer Research, London SW3 6JB, United Kingdom
    Cancer Res 70:979-87. 2010
    ..In murine embryonic prostate epithelia, the transcription factor SOX9 is required for proper prostate development...
  75. doi Upregulation of SOX9 in lung adenocarcinoma and its involvement in the regulation of cell growth and tumorigenicity
    Shih Sheng Jiang
    National Institute of Cancer Research, Taiwan
    Clin Cancer Res 16:4363-73. 2010
    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...
  76. ncbi Mutational analysis of the SOX9 gene in campomelic dysplasia and autosomal sex reversal: lack of genotype/phenotype correlations
    J Meyer
    Institute of Human Genetics, University of Freiburg, Germany
    Hum Mol Genet 6:91-8. 1997
    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...
  77. ncbi Sox9, a master regulator of chondrogenesis, distinguishes mesenchymal chondrosarcoma from other small blue round cell tumors
    Bret Michael Wehrli
    Department of Pathology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Blvd, Box 085, Houston, TX 77030, USA
    Hum Pathol 34:263-9. 2003
    ..The transcription factor Sox9 has been demonstrated to be a master regulator of the differentiation of mesenchymal cells into chondrocytes...
  78. ncbi Suppression of growth and tumorigenicity in the prostate tumor cell line M12 by overexpression of the transcription factor SOX9
    Rolf Drivdahl
    Veterans Affairs Puget Sound Health Care System, Seattle, WA 98105, USA
    Oncogene 23:4584-93. 2004
    ..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 ..
  79. ncbi Expression and biological role of the prostaglandin D synthase/SOX9 pathway in human ovarian cancer cells
    Safia Malki
    Department of Development and Differentiation, Institut de Génétique Humaine IGH CNRS UPR1142, 141, rue de la Cardonille, 34396 Montpellier, Cedex 5, France
    Cancer Lett 255:182-93. 2007
    ..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 ..
  80. doi A new mechanism of SOX9 action to regulate PKCalpha expression in the intestine epithelium
    Sebastien Dupasquier
    CNRS, UMR 5203, Institut de Genomique Fonctionnelle, 34094, Montpellier, France
    J Cell Sci 122:2191-6. 2009
    ..expression of PKCalpha in proliferating intestinal epithelial cells is repressed both in vitro and in vivo by the SOX9 transcription factor...
  81. pmc Transcriptional Suppression by Transient Recruitment of ARIP4 to Sumoylated nuclear receptor Ad4BP/SF-1
    Hidesato Ogawa
    Division of Sex Differentiation, National Institute for Basic Biology, National Institutes of Natural Sciences, Myodaiji cho, Okazaki 444 8787, Japan
    Mol Biol Cell 20:4235-45. 2009
    ..These findings suggest that ARIP4 may be a cofactor that modulates SUMO-mediated fine-tuning of transcriptional suppression...
  82. ncbi Nuclear receptor Dax-1 represses the transcriptional cooperation between GATA-4 and SF-1 in Sertoli cells
    J J Tremblay
    Ontogeny and Reproduction Research Unit, CHUL Research Centre and Centre for Research in Biology of Reproduction, Department of Obstetrics and Gynecology, Laval University, Ste-Foy, , Canada G1V 4G2
    Biol Reprod 64:1191-9. 2001
    ..expression of the MIS gene requires the concerted action of several transcription factors that include Sox9, SF-1, WT-1, GATA-4, and Dax-1...
  83. ncbi UBI4, the polyubiquitin gene of Saccharomyces cerevisiae, is a heat shock gene that is also subject to catabolite derepression control
    R Watt
    Department of Biochemistry and Molecular Biology, University College London, UK
    Mol Gen Genet 253:439-47. 1997
    ..UBI4-LacZ expression was virtually identical in cells having constitutively high (ras2, sra1-13) or constitutively low (ras2) levels of cyclic AMP-dependent protein kinase activity, indicating that this ..
  84. ncbi The effect of bone morphogenetic protein-2 on rat intervertebral disc cells in vitro
    S Tim Yoon
    Emory University School of Medicine, Atlanta, GA 30033, USA
    Spine (Phila Pa 1976) 28:1773-80. 2003
    ..An in vitro experiment to determine the molecular and cellular effect of recombinant human bone morphogenetic protein-2 on cultured rat intervertebral disc cells was performed...
  85. ncbi Mammalian sex determination: from gonads to brain
    E Vilain
    Department of Human Genetics, UCLA School of Medicine and UCLA Children's Hospital, Los Angeles, California, 90095-1752, USA
    Mol Genet Metab 65:74-84. 1998
    ..These genes are WT1, SF1, DAX1, and SOX9. A regulatory cascade hypothesis for mammalian sex determination, proposing that SRY represses a negative regulator ..
  86. ncbi Transcriptional mechanisms of chondrocyte differentiation
    B de Crombrugghe
    Department of Molecular Genetics, The University of Texas, M D Anderson Cancer Center, 1515 Holcombe Blvd, Houston, TX 77030, USA
    Matrix Biol 19:389-94. 2000
    ..Our experiments have demonstrated that the HMG-box-containing transcription factor, Sox9 which binds and activates this enhancer element, is required for chondrocyte differentiation and for expression of ..
  87. doi Reappraisal of mesenchymal chondrosarcoma: novel morphologic observations of the hyaline cartilage and endochondral ossification and beta-catenin, Sox9, and osteocalcin immunostaining of 22 cases
    Julie C Fanburg-Smith
    Department of Orthopedic and Soft Tissue Pathology, Armed Forces Institute of Pathology, Washington, DC 20306 6000, USA
    Hum Pathol 41:653-62. 2010
    ..We intensively observed the morphology and applied Sox9 (master regulator of chondrogenesis), beta-catenin (involved in bone formation, thought to inhibit chondrogenesis ..
  88. ncbi Interleukin-1 inhibits Sox9 and collagen type II expression via nuclear factor-kappaB in the cultured human intervertebral disc cells
    Zhan ge Yu
    Department of Orthopaedic Surgery, The First Affiliated Hospital of Harbin Medical University, Harbin, Heilongjiang 150001, China
    Chin Med J (Engl) 122:2483-8. 2009
    ..change in intervertebral disc degeneration is the decrease of chondrocyte specific gene and protein expression of Sox9 and collagen type II...
  89. ncbi L-Sox5, Sox6 and Sox9 control essential steps of the chondrocyte differentiation pathway
    V Lefebvre
    Department of Molecular Genetics, The University of Texas, MD Anderson Cancer Center, Houston 77030, USA
    Osteoarthritis Cartilage 9:S69-75. 2001
    ..This work was carried out to identify transcription factors controlling the differentiation of mesenchymal cells into chondrocytes...
  90. pmc Characterization of the model for experimental testicular teratoma in 129/SvJ-mice
    J Sundstrom
    Department of Anatomy, University of Turku, Finland
    Br J Cancer 80:149-60. 1999
    ..was analysed by light and electron microscopy and by immunocytochemical localization of transcription factors SOX9 and c-kit, glial fibrillary acidic protein (GFAP) and type IV collagen...
  91. ncbi The SOX9 transcription factor in the human disc: decreased immunolocalization with age and disc degeneration
    Helen E Gruber
    Department of Orthopaedic Surgery, Carolinas Medical Center, Charlotte, NC 28232, USA
    Spine (Phila Pa 1976) 30:625-30. 2005
    Human intervertebral disc anulus tissue was obtained in a prospective study of immunolocalization of SOX9, a protein that plays a role in chondrogenesis and Type II collagen expression...
  92. ncbi HC-gp39 contributes to chondrocyte differentiation by inducing SOX9 and type II collagen expressions
    C Jacques
    UMR 7079 CNRS, Physiology and Physiopathology Laboratory, University Paris 6, 7 quai St Bernard, Paris, 75252 Cedex 5, France
    Osteoarthritis Cartilage 15:138-46. 2007
    The transcription factor SOX9 has been shown to be linked to chondrocyte differentiation and induction of type II collagen synthesis...
  93. ncbi Regulation of human COL9A1 gene expression. Activation of the proximal promoter region by SOX9
    Ping Zhang
    Department of Medicine, Division of Rheumatology, Thomas Jefferson University, Jefferson Medical College, Philadelphia, Pennsylvania 19107, USA
    J Biol Chem 278:117-23. 2003
    ..Co-transfection experiments with a SOX9 expression plasmid revealed that a construct containing the five putative SOX/Sry-binding sites was transactivated ..
  94. doi SOX9 is not required for the cellular events of testicular organogenesis in XX mole ovotestes
    F David Carmona
    Departamento de Genética e Instituto de Biotecnología, Facultad de Ciencias, Universidad de Granada, Granada, Spain
    J Exp Zool B Mol Dev Evol 312:734-48. 2009
    ..The differentiation of SOX9-expressing Sertoli cells is assumed to be necessary to initiate testis development...
  95. ncbi Misexpression of Sox9 in mouse limb bud mesenchyme induces polydactyly and rescues hypodactyly mice
    Haruhiko Akiyama
    Department of Orthopaedics, Kyoto University, Kyoto 606 8507, Japan
    Matrix Biol 26:224-33. 2007
    Our previous studies have demonstrated the essential roles of the transcription factor Sox9 in the commitment of mesenchymal cells to a chondrogenic cell lineage and in overt chondrogenesis during limb bud development...
  96. ncbi Targeted expression of SHH affects chondrocyte differentiation, growth plate organization, and Sox9 expression
    Sara Tavella
    Department of Oncology, Biology and Genetics, University of Genoa Medical School, Genoa, Italy
    J Bone Miner Res 19:1678-88. 2004
    ..Overexpression caused a lethal craniorachischisis with major alterations in long bones because of defects in chondrocyte differentiation...
  97. ncbi Mouse clavicular development: analysis of wild-type and cleidocranial dysplasia mutant mice
    L F Huang
    Department of Cell Biology, Harvard Medical School, Boston, Massachusetts 02115, USA
    Dev Dyn 210:33-40. 1997
    ..Bone and cartilage specific markers--type I, II, and X collagens, Sox9, aggrecan, and osteopontin were used as probes...
  98. pmc Potential role of Sox9 in patterning tracheal cartilage ring formation in an embryonic mouse model
    Ravindhra G Elluru
    Department of Pediatric Otolaryngology, Cincinnati Children s Hospital Medical Center, Cincinnati, Ohio 45229 3039, USA
    Arch Otolaryngol Head Neck Surg 130:732-6. 2004
    ..To identify genes expressed early in the formation of the mouse trachea that control patterning of tracheal cartilaginous rings...
  99. doi Skeletogenesis in Xenopus tropicalis: characteristic bone development in an anuran amphibian
    Shinichirou Miura
    Laboratory of Molecular Embryology, Department of Bioscience, School of Science, Kitasato University, 1 15 1, Kitasato, Sagamihara, Kanagawa, 228 8555, Japan
    Bone 43:901-9. 2008
    ..Transcription factor SOX9 plays essential roles during developmental steps from undifferentiated mesenchymal cells to proliferating ..
  100. ncbi Msx2 is a repressor of chondrogenic differentiation in migratory cranial neural crest cells
    K Takahashi
    Craniofacial Development Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, 6 Center Drive, Bethesda, MD 20892 2745, USA
    Dev Dyn 222:252-62. 2001
    ..Here, we report that Sox9 and Msx2 were coexpressed in a subpopulation of CNCC during their migration...
  101. pmc Down-regulation of nucleosomal binding protein HMGN1 expression during embryogenesis modulates Sox9 expression in chondrocytes
    Takashi Furusawa
    Protein Section, Laboratory of Metabolism, Center for Cancer Research, National Cancer Institute, National Institutes of Health, Building 37, Room 3122, 9000 Rockville Pike, Bethesda, Maryland 20892, USA
    Mol Cell Biol 26:592-604. 2006
    ..In the developing limb bud, the expression of HMGN1 is complementary to Sox9, a master regulator of the chondrocyte lineage...

Research Grants65

  1. VERONIQUE M LEFEBVRE; Fiscal Year: 2015
    ..The main goal of this project is to help lift this barrier by increasing knowledge of the action and regulation of Sox9, a master transcription factor in chondrogenesis...
  2. TIMOTHY JOSEPH MEAD; Fiscal Year: 2015
    ..b>Sox9 encodes a transcription factor that is absolutely required for cartilage formation...
  3. VERONIQUE M LEFEBVRE; Fiscal Year: 2014
    DESCRIPTION (provided by applicant): The goal of this project is to identify transcriptional mechanisms underlying Sox9 expression in chondrocytes...
  4. ESE 1 a novel transcriptional regulator of cartilage remodeling
    MARY GOLDRING; Fiscal Year: 2009
    ..suppresses type II collagen gene (COL2A1) expression by binding to the COL2A1 promoter and by interacting with Sox9 and CBP...
  5. Mary B Goldring; Fiscal Year: 2014
    ..factor suppresses type II collagen gene (COL2A1) expression by binding to the COL2A1 promoter and interacting with Sox9 and CBP and that ESE-1 immunostaining is increased in superficial and midzone regions of cartilage from patients ..
  6. The role of microRNAs in chondrogenesis and arthritis
    Hiroshi Asahara; Fiscal Year: 2009
    ..Cartilage specific Sox9 null mice did not express miR- 140 and the potential Sox9 binding region close to pre-miR-140 was associated with ..
  7. Hiroshi Asahara; Fiscal Year: 2014
    ..These studies demonstrated that miR-140 has the most cartilage specific expression pattern. Cartilage specific Sox9 null mice did not express miR-140 and the potential Sox9 binding region close to pre-miR-140 was associated with ..
  8. Rosa A Serra; Fiscal Year: 2016
    ..In addition to TGF-[unreadable], the transcription factor Sox9 is also associated with the maintenance of mature articular cartilage...
  9. Debora Sinner; Fiscal Year: 2016
    ..Deletion of Wntless in mouse respiratory tract results in absent tracheal and bronchial cartilaginous rings. Sox9, a master regulator of chondrogenesis, is not detected while the expression domain of Smooth Muscle Actin is ..
  10. Sox9 in TGF-??-mediated maintenance of chondrocyte phenotype
    Jessica Perez; Fiscal Year: 2013
    ..Growth factors like transforming growth factor (TGF)-beta and the chondrogenic transcription factor Sox9 are associated with the maintenance of mature articular cartilage through their action on chondrocyte ..
  11. Cartilage storage solution for chondrocyte viability and biomaterial preservation
    Kelvin G M Brockbank; Fiscal Year: 2013
    ..The gene expression studies will determine which formulation maintains normal untreated cartilage expression of Sox9, aggrecan, collagen type II (versus dedifferentiation marker collagen type I), cartilage oligomeric matrix, a ..
  12. FUNCTION AND REGULATION OF AP-2 IN SKELETAL DEVELOPMENT
    Zhengmin Huang; Fiscal Year: 2007
    ..A number of transcription factors such as Sox9, Sox5, Sox6 and Cbfa1 have been found to be critical for cartilage development by positively controlling ..
  13. Maike Sander; Fiscal Year: 2016
    ..Mechanistic studies in the PI's laboratory have further shown that the transcription factor Sox9 is necessary to bestow competence upon ductal progenitors to initiate endocrine gene expression programs...
  14. miRNAs regulate lung epithelial progenitor cells in development and injury repair
    Ying Tian; Fiscal Year: 2013
    ..Overexpression of miR-302/367 in developing airway epithelium causes expansion of Sox2+ proximal and Sox9+ distal progenitor cells and decreased airway epithelial cell differentiation...
  15. Osteosarcoma Translational Research
    Qiping Zheng; Fiscal Year: 2013
    ..Aim 3 focuses on analysis of candidate genes (such as P53, P63, RB1, SOX9, RUNX2, etc...
  16. MECHANISMS OF CHONDROINDUCTION OF DERMAL FIBROBLASTS
    Julie Glowacki; Fiscal Year: 2000
    ..Candidate transcription factors that will be examined include scleraxis, SOX9, HOXC8 and twist...
  17. Matthew J Hilton; Fiscal Year: 2014
    ..and chondrogenesis by interacting with stabilized [unreadable]-catenin to regulate Hes1 and ultimately Sox9, and is later required to promote chondrocyte maturation via cartilage specific regulation of Hes1 and Runx2 ..
  18. GFP Reporters for the chondrocyte lineage
    David Rowe; Fiscal Year: 2009
    ..chondrogenic progenitor cells in the developing limb, FGF10;prechondrocytes (precartilage condensation), Sox9 and Col1a1;proliferating chondrocytes, Sox9 and Col2a1;prehypertrophic chondrocytes, IHH;hypertrophic chondrocytes, ..
  19. METABOLIC EFFECTS OF THYROID HORMONE
    Herbert Samuels; Fiscal Year: 2009
    ..Knockdown of either DBC-1, EMSY, or NIF-1 leads to a marked reduction in stimulation of Sox9, an RAR responsive gene in MCF-7 cells suggesting that the high MW NIF-1 complex plays a role in transcriptional ..
  20. Elaine Fuchs; Fiscal Year: 2016
    ..We showed that HF-SCs express a group of transcription factors-- Sox9, Lhx2, NFATc1 &Tcf3/4--which basal IFE SCs do not, and we used these markers to trace the origins of HF-SCs to ..
  21. INTEGRIN FUNCTION AND SIGNALING IN CARCINOMA PROGRESSION
    Arthur M Mercurio; Fiscal Year: 2012
    ..The third aim focuses on SOX9, a transcription factor that is in the beta4 signature and the original basal-like gene cluster but whose functions ..
  22. REBECCA BEER; Fiscal Year: 2016
    ..To do so I propose to identify novel Sox9 target genes in the pancreas...
  23. SOX9 in prostate cancer development and progression
    Xin Yuan; Fiscal Year: 2012
    ..To study the molecular mechanisms of prostate cancer (PCa) progression, we are focusing on the potential role of SOX9, an important developmental transcription factor...
  24. Elaine Fuchs; Fiscal Year: 2016
    ..Moreover, with the recent identification of Lhx2, Nfatc1 and Sox9 as additional essential HF-SC transcription factors, global chromatin mapping should illuminate how this ..
  25. Transcriptional Control of Mammalian Sexual Development
    Sergei G Tevosian; Fiscal Year: 2013
    ..sexual development in a) Dkk1 null embryos and b) compound mutant Fog2-/-Dkk1-/-, GATA4ki/ki/Dkk1-/- and Wt1-Sox9/Dkk-/- embryos;and using the tetO-Dkk1 mouse strain we will over-express Dkk1 specifically in embryonic gonads to ..
  26. Scott T Magness; Fiscal Year: 2015
    ..This proposal aims to define the specific roles and gene targets of Sox9 in IESC stemness...
  27. Michael Karin; Fiscal Year: 2016
    ..Another marker expressed by HPC is the transcription factor Sox9, which is also expressed in oval cells...
  28. Jean Pierre Saint-Jeannet; Fiscal Year: 2014
    ..However, there is also evidence that SoxE proteins differentially regulate NC lineages. For example Sox9- and Sox10-deficient mice show severe but distinct NC defects suggesting that individual SoxE proteins play unique ..
  29. Intestinal Stem/progenitor Cell Potency and Competence
    Scott T Magness; Fiscal Year: 2010
    ..With the exception of SOX9 the cellular localization and role of SOX factors in the intestine remain largely unknown...
  30. Kara M Nordin; Fiscal Year: 2014
    ..SoxE family transcription factors (Sox8, Sox9, and Sox10) are essential for several aspects of neural crest cell development, including the formation of the ..
  31. GENETIC REGULATION OF INNER EAR FORMATION
    Monte Westerfield; Fiscal Year: 2013
    ..Mutations or haploinsufficiency of FOXI1 or SOX9 in humans can lead to abnormal inner ear development and conductive hearing loss...
  32. Origin of Pancreatic Ductal Adenocarcinoma
    JANEL LYNN KOPP; Fiscal Year: 2010
    ..This gap has recently been closed with our identification of the transcription factor Sox9 as an exclusive marker of ductal and centroacinar cells in the adult pancreas...
  33. David H Wang; Fiscal Year: 2016
    ..We previously identified SOX9, a transcription factor expressed in the embryonic esophagus, as a Hh-BMP4 target gene that is upregulated in ..
  34. Lori Sussel; Fiscal Year: 2014
    ..Gata-mediated regulation of pancreatic primordia formation using conditional gene ablation of the Gata genes in the Sox9+ and Pdx1+ pancreatic primordia, combined with genetic lineage tracing...
  35. Ze ev A Ronai; Fiscal Year: 2014
    ..Further, we identified a subset of genes regulated by FoxA2/HIF-1? including Hes6, Jmjd1a, Plod2 and Sox9. Of particular significance is that we have confirmed the expression of these select subsets in mouse NE tumors but ..
  36. DAVID RINSEY BICKERS; Fiscal Year: 2016
    ..shown that the Shh pathway directly regulates mTOR expression and that mTOR is a direct transcriptional target of SOX9, a transcription factor regulated by Gli-1...
  37. Jason R Spence; Fiscal Year: 2016
    DESCRIPTION (provided by applicant): This proposal is based on two novel findings that identify both Sox9 and Hox5 as critical players in lung development...
  38. BMP Induced Regeneration of an Endochondral Growth Zone in Digit Regeneration
    Ling Yu; Fiscal Year: 2012
    ..at the amputation injury are directly stimulated to proliferate and/or initiate chondrogenesis via the induction of SOX9. We also will use Laser Capture Microdissection to isolate cells within the BMP response domain for microarray ..
  39. Factors Regulating Inner Ear Specification
    Jean Pierre Saint Jeannet; Fiscal Year: 2010
    ..Sox proteins comprise a large class of transcriptional regulators. One member of this family, Sox9, a well- established regulator of chondrogenesis and sex determination, is also one of the earliest genes expressed ..
  40. Tracie R Baker; Fiscal Year: 2016
    ..Down-regulation of the sox9b gene is the cause of TCDD-induced jaw malformation in zebrafish. The human sox9 gene is a master regulator of both skeletal formation and sex specification: sox9 is thought to be the target of ..
  41. The role of CARM1 in chondrogenesis
    Tatsuo Ito; Fiscal Year: 2006
    unreadable] DESCRIPTION (provided by applicant): Hypothesis: The association of Sox9 complexes with CARM1 up-regulate the chondrocyte cellular gene expression with the arginine methylation of p300/CBP...
  42. DIFFERENTIATION IN THE ENDOCRINE AND EXOCRINE PANCREAS
    Michael German; Fiscal Year: 2009
    ..We will use sox9-GFP mice to sort the progenitor cells from different ages and to compare their gene expression patterns and ..
  43. Vicki N Meyers-Wallen; Fiscal Year: 2014
    ..In the testis pathway, SOX9 expression is critical to testis induction...
  44. Monika A Ward; Fiscal Year: 2016
    ..In Aim 1 we wil test if transgenic activation of Sox9, a downstream effector of Sry, will effectively replace Sry function and whether Sry-to-Sox9 replacement affects ..
  45. OPPOSING PATHWAYS IN MAMMALIAN SEX DETERMINATION
    Blanche Capel; Fiscal Year: 2010
    ..expression of Sry controls a cell fate decision in Sertoli cell precursors that leads to the stable expression of Sox9 throughout the Sertoli lineage...
  46. 2ND INTERNAT'L SYMPOSIUM OF VERTEBRATE SEX DETERMINATION
    Valentine Lance; Fiscal Year: 2000
    ..Homologues of a number of these genes (SF-1, SOX9, MIH, DAX1, WT1) have since been shown to be expressed in the differentiating gonads of fish, amphibians, reptiles ..
  47. Engineering Multi-Tissue Interfaces
    Paul H Krebsbach; Fiscal Year: 2012
    ..The central hypothesis is that delivery of bioactive signaling factors (BMP-2 and Sox9) to distinct regions of designed scaffolds can control the lineage commitment of responsive cells to develop a bone/..
  48. Blanche Capel; Fiscal Year: 2016
    ..distributed in cells in the interior of the gonad that establish expression of either SRY and its downstream target SOX9, or the earliest marker of female supporting cell precursors, FOXL2...
  49. Targeted Suppression of the Transcription Factor Sox9 in the Testis by Tissue-Spe
    Manjeet Rao; Fiscal Year: 2007
    unreadable] DESCRIPTION (provided by applicant): The transcription factor Sox9 is critical for the male gonadal development during embryogenesis...
  50. PPAR-gamma Signaling in Normal Pilosebaceous Units and in Scarring Alopecia
    Pratima Karnik; Fiscal Year: 2013
    ..We show that the expression of stem cell markers (LGR5, LHX2, SOX9, TCF3) is decreased and that cytokines, growth factors and tissue remodeling genes are upregulated in LPP and in ..
  51. PRIMARY SEX DETERMINATION AND FERTILITY IN MAMMALS
    COLIN BISHOP; Fiscal Year: 2003
    ..the applicant's abstract) Insertion of tyrosinase minigene resulted in a small deletion (<200 kb) upstream of Sox9 on the mouse chromosome 11...
  52. Intercellular adhesion and morphogenesis: role of actin-regulatory proteins
    Ann Marie Pendergast; Fiscal Year: 2010
    ..in distinct protein complexes: one, which is comprised of two Abl-binding proteins, Abi and Wave, as well as Nap1, Sra1 and Arp2/3, and a second complex comprised of distinct novel Abi-binding proteins, which is required for cell-cell ..
  53. Shengli Ding; Fiscal Year: 2016
    ..This proposal will use a Sox9-EGFP reporter mouse, where distinct levels of Sox9-EGFP expression permit direct visualization and isolation of ..
  54. Definition of chromosomal abnormalities by next generation sequencing
    Nara Sobreira; Fiscal Year: 2012
    ..2;q24) translocation, with a breakpoint in the region upstream of the SOX9 on chromosome 17q, associated with the clinical phenotype of acampomelic campomelic dysplasia (OMIM 114290)...
  55. Insulin Receptor in Intestinal Growth, Tumorigenesis, Aging, and Obesity
    SARAH BORTVEDT; Fiscal Year: 2012
    ..IR mutant mice to mice expressing EGFP under the promoter for the intestinal epithelial stem cell (IESC) biomarker Sox9. These mice will allow us to directly assess the role of IR in IESC...
  56. Shengli Ding; Fiscal Year: 2014
    ..Villin-Cre (VC) mediated deletion of IGF1R (VC-IGF-IR(/( ) or IR (VC-IR(/() and mice cross-bred with Lgr5- EGFP and Sox9-EGFP stem cell reporters, will be used to dissect the specific roles of IGF1R and IR in intestinal epithelium and ..
  57. Stephen F Konieczny; Fiscal Year: 2016
    ..acinar transcription networks that prevent acinar ->PDAC progression and (2) to establish how the ductal SOX9 transcription network drives ADM/PDAC development...
  58. Steven D Leach; Fiscal Year: 2014
    ..In addition, the spheres maintain a subpopulation of cells expressing ALDH1, Hes1 and Sox9, suggesting a capacity for self-renewal...
  59. TRANSCRIPTIONAL REGULATORS OF CHONDROINDUCTION BY DBP
    Karen Yates; Fiscal Year: 2004
    ..Studies (ID2, FOG2, MBLL, HBP1), and transcription factors that are known to regulate embryonic chondrogenesis (SOX9, HOXC8, scleraxis)...
  60. AUTOSOMAL MECHANISMS OF TESTIS INDUCTION
    VICKI MEYERS WALLEN; Fiscal Year: 2005
    ..polymerase chain reaction and whole mount in situ hybridization to compare embryonic gonadal expression of Sox9, MIS/AMh, Sf1, Daxl, Wt-1 and Sry...
  61. Jason R Spence; Fiscal Year: 2015
    ..The specific aims are designed to test a model where Sox9 regulates early intestinal progenitor cells as they are restricted to the proliferative intervillus region of the ..
  62. GENE INVOLVED IN SEX REVERSAL MAPS TO CHROMOSOME 9P
    WENDY FLEIJTER; Fiscal Year: 1999
    ..b>SOX9 and SRY, using PCR amplification with HMG hox specific primers...
  63. ANALYSIS OF YEAST CAMP-DEPENDENT PROTEIN KINASE
    John Cannon; Fiscal Year: 1992
    ..kinase A substrates and phosphoprotein phosphatases because they will be the primary extragenic suppressors of SRA1. What are the functions of protein kinase A substrates and how are they modulated by phosphorylation? The answers ..
  64. NF-kappa beta in mRNA Stability and Cell Differentiation
    ALBERT BALDWIN JR; Fiscal Year: 2003
    ..Interestingly, we find that the mRNA for another key transcription factor involved in differentiation, namely Sox9, is targeted for loss when cytokines or NF-kappaB is expressed...
  65. Pathogenesis of Laminin-alpha2 Deficiency
    Jeffrey Miller; Fiscal Year: 2005
    ..experiments will test hypotheses about how loss of laminin-c_2 leads to the severe neuromuscular dysfunction in CMD1. For Aims 1 & 2, we will examine the role of apoptosis in CMD1 pathogenesis...