SOX2

Summary

Gene Symbol: SOX2
Description: SRY-box 2
Alias: ANOP3, MCOPS3, transcription factor SOX-2, SRY (sex determining region Y)-box 2, SRY-related HMG-box gene 2, sex determining region Y-box 2, transcription factor SOX2
Species: human
Products:     SOX2

Top Publications

  1. Fong H, Hohenstein K, Donovan P. Regulation of self-renewal and pluripotency by Sox2 in human embryonic stem cells. Stem Cells. 2008;26:1931-8 pubmed publisher
    ..Studies in mice have implicated three factors in regulating pluripotency in embryonic stem cells, Oct4, Nanog, and Sox2. However, significant differences in growth regulation between mouse embryonic stem and hES cells have been ..
  2. Kelberman D, Dattani M. Genetics of septo-optic dysplasia. Pituitary. 2007;10:393-407 pubmed
    ..More recently, we have implicated duplications of SOX3 and mutations of both SOX2 and SOX3 in the aetiology of variants of SOD...
  3. Li A, Siu M, Zhang H, Wong E, Chan K, Ngan H, et al. Hypermethylation of SOX2 gene in hydatidiform mole and choriocarcinoma. Reprod Sci. 2008;15:735-44 pubmed publisher
    This study investigated the expression and methylation profiles of SOX2, a stem cell-related transcription factor, in placentas and gestational trophoblastic disease...
  4. Ge N, Lin H, Xiao X, Guo L, Xu H, Wang X, et al. Prognostic significance of Oct4 and Sox2 expression in hypopharyngeal squamous cell carcinoma. J Transl Med. 2010;8:94 pubmed publisher
    Oct4 and Sox2 are two major transcription factors related to the stem cell self-renewal and differentiation...
  5. Xu N, Papagiannakopoulos T, Pan G, Thomson J, Kosik K. MicroRNA-145 regulates OCT4, SOX2, and KLF4 and represses pluripotency in human embryonic stem cells. Cell. 2009;137:647-58 pubmed publisher
    ..We identify the pluripotency factors OCT4, SOX2, and KLF4 as direct targets of miR-145 and show that endogenous miR-145 represses the 3' untranslated regions of ..
  6. Chen P, Chen W, Li J, Lind A, Lu D. Diagnostic utility of neural stem and progenitor cell markers nestin and SOX2 in distinguishing nodal melanocytic nevi from metastatic melanomas. Mod Pathol. 2013;26:44-53 pubmed publisher
    ..Recent studies have demonstrated strong expression of neural stem/progenitor cell markers nestin and SOX2 in melanoma...
  7. Li X, Xu Y, Chen Y, Chen S, Jia X, Sun T, et al. SOX2 promotes tumor metastasis by stimulating epithelial-to-mesenchymal transition via regulation of WNT/?-catenin signal network. Cancer Lett. 2013;336:379-89 pubmed publisher
    b>SOX2 was reported to promote metastasis in various tumor tissues; however the underlying mechanisms remain elusive...
  8. Phi J, Park S, Kim S, Paek S, Kim J, Lee Y, et al. Sox2 expression in brain tumors: a reflection of the neuroglial differentiation pathway. Am J Surg Pathol. 2008;32:103-12 pubmed
    b>Sox2 is a key transcription factor that maintains the proliferation of neuroglial stem cells and inhibits neuronal fate commitment...
  9. Ji J, Zheng P. Expression of Sox2 in human cervical carcinogenesis. Hum Pathol. 2010;41:1438-47 pubmed publisher
    b>Sox2 is a key transcription factor for embryonic development and plays a critical role in determining the fate of stem cells. Recently, Sox2 has been detected in several human tumors, indicating a potential function in tumorigenesis...

More Information

Publications127 found, 100 shown here

  1. Bareiss P, Paczulla A, Wang H, Schairer R, Wiehr S, Kohlhofer U, et al. SOX2 expression associates with stem cell state in human ovarian carcinoma. Cancer Res. 2013;73:5544-55 pubmed publisher
    The SRY-related HMG-box family of transcription factors member SOX2 regulates stemness and pluripotency in embryonic stem cells and plays important roles during early embryogenesis...
  2. Yang F, Gao Y, Geng J, Qu D, Han Q, Qi J, et al. Elevated expression of SOX2 and FGFR1 in correlation with poor prognosis in patients with small cell lung cancer. Int J Clin Exp Pathol. 2013;6:2846-54 pubmed
    The central issue in this study is to investigate the expression of Sex determining region Y-BOX2 (SOX2) and fibroblast growth factor receptor 1 (FGFR1), evaluate their clinicopathological variables and prognostic significance in small ..
  3. Saigusa S, Tanaka K, Toiyama Y, Yokoe T, Okugawa Y, Ioue Y, et al. Correlation of CD133, OCT4, and SOX2 in rectal cancer and their association with distant recurrence after chemoradiotherapy. Ann Surg Oncol. 2009;16:3488-98 pubmed publisher
    ..We investigated the role of three stem cell markers (CD133, OCT4, and SOX2) in rectal cancer and evaluated the association between these gene levels and clinical outcome in rectal cancer ..
  4. Reis L, Tyler R, Schneider A, Bardakjian T, Semina E. Examination of SOX2 in variable ocular conditions identifies a recurrent deletion in microphthalmia and lack of mutations in other phenotypes. Mol Vis. 2010;16:768-73 pubmed
    The role of SRY-Box 2 (SOX2) in anophthalmia/microphthalmia (A/M) is well known, with 10%-20% of A/M explained by mutations in SOX2...
  5. Xu R, Yang W, Zheng P. Coexpression of B-lymphoma Moloney murine leukemia virus insertion region-1 and sex-determining region of Y chromosome-related high mobility group box-2 in cervical carcinogenesis. Hum Pathol. 2013;44:208-17 pubmed publisher
    ..05). Coexpression of B-lymphoma Moloney murine leukemia virus insertion region-1 and sex-determining region of Y chromosome-related high mobility group box-2 may promote cervical carcinogenesis. ..
  6. Velpula K, Dasari V, Tsung A, Dinh D, Rao J. Cord blood stem cells revert glioma stem cell EMT by down regulating transcriptional activation of Sox2 and Twist1. Oncotarget. 2011;2:1028-42 pubmed
    ..In this regard, our studies on hGBM tissue grade IV specimens showed significant expression of Twist1 and Sox2, known mesenchymal and stemness related markers, respectively, indicating their association with glial tumor ..
  7. Adachi K, Suemori H, Yasuda S, Nakatsuji N, Kawase E. Role of SOX2 in maintaining pluripotency of human embryonic stem cells. Genes Cells. 2010;15:455-70 pubmed publisher
    ..cell (ESC) pluripotency is thought to be regulated by several key transcription factors including OCT4, NANOG, and SOX2. Although the functions of OCT4 and NANOG in human ESCs are well defined, that of SOX2 has not been fully ..
  8. Guo Y, Liu S, Wang P, Zhao S, Wang F, Bing L, et al. Expression profile of embryonic stem cell-associated genes Oct4, Sox2 and Nanog in human gliomas. Histopathology. 2011;59:763-75 pubmed publisher
    To investigate whether Oct4, Sox2 and Nanog, three core regulatory factors maintaining pluripotency and self-renewal of embryonic stem cells (ESCs), are coexpressed in human gliomas, and whether their expression might be linked to ..
  9. Wang X, Liang Y, Chen Q, Xu H, Ge N, Luo R, et al. Prognostic significance of SOX2 expression in nasopharyngeal carcinoma. Cancer Invest. 2012;30:79-85 pubmed publisher
    The significance of SOX2 in nasopharyngeal carcinoma (NPC), a tumor associated with Epstein-Barr virus (EBV), remains unclear...
  10. Gure A, Stockert E, Scanlan M, Keresztes R, Jager D, Altorki N, et al. Serological identification of embryonic neural proteins as highly immunogenic tumor antigens in small cell lung cancer. Proc Natl Acad Sci U S A. 2000;97:4198-203 pubmed
    ..lines using pooled sera of SCLC patients led to the isolation of 14 genes, including 4 SOX group B genes (SOX1, SOX2, SOX3, and SOX21) and ZIC2...
  11. Rybak A, Tang D. SOX2 plays a critical role in EGFR-mediated self-renewal of human prostate cancer stem-like cells. Cell Signal. 2013;25:2734-42 pubmed publisher
    b>SOX2 is an essential transcription factor for stem cells and plays a role in tumorigenesis, however its role in prostate cancer stem cells (PCSCs) remains unclear...
  12. Schepers G, Teasdale R, Koopman P. Twenty pairs of sox: extent, homology, and nomenclature of the mouse and human sox transcription factor gene families. Dev Cell. 2002;3:167-70 pubmed
  13. Kelberman D, de Castro S, Huang S, Crolla J, Palmer R, Gregory J, et al. SOX2 plays a critical role in the pituitary, forebrain, and eye during human embryonic development. J Clin Endocrinol Metab. 2008;93:1865-73 pubmed publisher
    Heterozygous, de novo mutations in the transcription factor SOX2 are associated with bilateral anophthalmia or severe microphthalmia and hypopituitarism...
  14. Schneider A, Bardakjian T, Zhou J, Hughes N, Keep R, Dorsainville D, et al. Familial recurrence of SOX2 anophthalmia syndrome: phenotypically normal mother with two affected daughters. Am J Med Genet A. 2008;146A:2794-8 pubmed publisher
    The SOX2 anophthalmia syndrome is emerging as a clinically recognizable disorder that has been identified in 10-15% of individuals with bilateral anophthalmia. Extra-ocular anomalies are common...
  15. Zhao H, Zhang Y, Dai H, Zhang Y, Shen Y. CARM1 mediates modulation of Sox2. PLoS ONE. 2011;6:e27026 pubmed publisher
    b>Sox2 is a key component of the transcription factor network that maintains the pluripotent state of embryonic stem cells (ESCs)...
  16. Götte M, Wolf M, Staebler A, Buchweitz O, Kiesel L, Schuring A. Aberrant expression of the pluripotency marker SOX-2 in endometriosis. Fertil Steril. 2011;95:338-41 pubmed publisher
  17. Ambrosetti D, Scholer H, Dailey L, Basilico C. Modulation of the activity of multiple transcriptional activation domains by the DNA binding domains mediates the synergistic action of Sox2 and Oct-3 on the fibroblast growth factor-4 enhancer. J Biol Chem. 2000;275:23387-97 pubmed
    ..inner cell mass of the blastocyst and in EC cells requires the combined activity of two transcriptional regulators, Sox2 and Oct-3, which bind to adjacent sites on the FGF-4 enhancer DNA and synergistically activate transcription...
  18. Tsuruzoe S, Ishihara K, Uchimura Y, Watanabe S, Sekita Y, Aoto T, et al. Inhibition of DNA binding of Sox2 by the SUMO conjugation. Biochem Biophys Res Commun. 2006;351:920-6 pubmed
    b>Sox2 is a member of the high mobility group (HMG) domain DNA-binding proteins for transcriptional control and chromatin architecture...
  19. Boyer L, Lee T, Cole M, Johnstone S, Levine S, Zucker J, et al. Core transcriptional regulatory circuitry in human embryonic stem cells. Cell. 2005;122:947-56 pubmed
    The transcription factors OCT4, SOX2, and NANOG have essential roles in early development and are required for the propagation of undifferentiated embryonic stem (ES) cells in culture...
  20. Remenyi A, Lins K, Nissen L, Reinbold R, Scholer H, Wilmanns M. Crystal structure of a POU/HMG/DNA ternary complex suggests differential assembly of Oct4 and Sox2 on two enhancers. Genes Dev. 2003;17:2048-59 pubmed
    ..In this study, we focus on two transcription factors, Oct4 and Sox2, as their combination on DNA is considered to direct the establishment of the first three lineages in the mammalian ..
  21. Riggi N, Suva M, De Vito C, Provero P, Stehle J, Baumer K, et al. EWS-FLI-1 modulates miRNA145 and SOX2 expression to initiate mesenchymal stem cell reprogramming toward Ewing sarcoma cancer stem cells. Genes Dev. 2010;24:916-32 pubmed publisher
    ..ESFTs and believed to initiate their pathogenesis, induces expression of the embryonic stem cell (ESC) genes OCT4, SOX2, and NANOG in human pediatric MSCs (hpMSCs) but not in their adult counterparts...
  22. Cimadamore F, Fishwick K, Giusto E, Gnedeva K, Cattarossi G, Miller A, et al. Human ESC-derived neural crest model reveals a key role for SOX2 in sensory neurogenesis. Cell Stem Cell. 2011;8:538-51 pubmed publisher
    The transcription factor SOX2 is widely known to play a critical role in the central nervous system; however, its role in peripheral neurogenesis remains poorly understood...
  23. Camilo V, Barros R, Sousa S, Magalhães A, Lopes T, Mário Santos A, et al. Helicobacter pylori and the BMP pathway regulate CDX2 and SOX2 expression in gastric cells. Carcinogenesis. 2012;33:1985-92 pubmed publisher
    ..These observations, together with the hypothesis that CDX2 could be repressed by SOX2, led us to test whether H...
  24. Gangemi R, Griffero F, Marubbi D, Perera M, Capra M, Malatesta P, et al. SOX2 silencing in glioblastoma tumor-initiating cells causes stop of proliferation and loss of tumorigenicity. Stem Cells. 2009;27:40-8 pubmed publisher
    ..Glioblastoma cells express several genes typical of normal neural stem cells. One of them, SOX2, is a master gene involved in sustaining self-renewal of several stem cells, in particular neural stem cells...
  25. Mihelec M, Abraham P, Gibson K, Krowka R, Susman R, Storen R, et al. Novel SOX2 partner-factor domain mutation in a four-generation family. Eur J Hum Genet. 2009;17:1417-22 pubmed publisher
    ..In most cases the underlying genetic cause is unknown, but mutations in some genes, such as SOX2, cause ocular developmental defects, particularly anophthalmia, in a subset of patients...
  26. Li J, Du L, Yang Y, Wang C, Liu H, Wang L, et al. MiR-429 is an independent prognostic factor in colorectal cancer and exerts its anti-apoptotic function by targeting SOX2. Cancer Lett. 2013;329:84-90 pubmed publisher
    ..Functionally, miR-429 overexpression suppressed cell apoptosis by directly targeting SOX2 in HT-29 cells...
  27. Annovazzi L, Mellai M, Caldera V, Valente G, Schiffer D. SOX2 expression and amplification in gliomas and glioma cell lines. Cancer Genomics Proteomics. 2011;8:139-47 pubmed
    The transcription factor SOX2 controls gene expression during development and has roles in both neurogenesis and gliogenesis...
  28. Utikal J, Maherali N, Kulalert W, Hochedlinger K. Sox2 is dispensable for the reprogramming of melanocytes and melanoma cells into induced pluripotent stem cells. J Cell Sci. 2009;122:3502-10 pubmed publisher
    ..at low frequencies from different cell types through ectopic expression of the transcription factors Oct4 and Sox2, combined with either Klf4 and c-Myc or Lin28 and Nanog...
  29. Laga A, Lai C, Zhan Q, Huang S, Velazquez E, Yang Q, et al. Expression of the embryonic stem cell transcription factor SOX2 in human skin: relevance to melanocyte and merkel cell biology. Am J Pathol. 2010;176:903-13 pubmed publisher
    b>SOX2 is a gene located on chromosome 3q26.33 that encodes a transcription factor important to maintenance of embryonic neural crest stem cell pluripotency...
  30. Liu L, Wei X, Ling J, Wu L, Xiao Y. Expression pattern of Oct-4, Sox2, and c-Myc in the primary culture of human dental pulp derived cells. J Endod. 2011;37:466-72 pubmed publisher
    ..Recently, the transcription factors of Oct-4, Sox2, c-Myc, and Klf4 have been reported to play a regulatory role in the stem cell self-renewal process, namely cell ..
  31. Tsukamoto T, Inada K, Tanaka H, Mizoshita T, Mihara M, Ushijima T, et al. Down-regulation of a gastric transcription factor, Sox2, and ectopic expression of intestinal homeobox genes, Cdx1 and Cdx2: inverse correlation during progression from gastric/intestinal-mixed to complete intestinal metaplasia. J Cancer Res Clin Oncol. 2004;130:135-45 pubmed
    ..Hence, we here analyzed Sox2, a human homolog of a chicken gastric transcription factor, with reference to our new classification for gastric/..
  32. Park E, Gum J, Kakar S, Kwon S, Deng G, Kim Y. Aberrant expression of SOX2 upregulates MUC5AC gastric foveolar mucin in mucinous cancers of the colorectum and related lesions. Int J Cancer. 2008;122:1253-60 pubmed
    ..b>SOX2, an HMG-box transcription factor expressed in gastric mucosa but not in intestine is thought to play an important ..
  33. Melone M, Giuliano M, Squillaro T, Alessio N, Casale F, Mattioli E, et al. Genes involved in regulation of stem cell properties: studies on their expression in a small cohort of neuroblastoma patients. Cancer Biol Ther. 2009;8:1300-6 pubmed
    ..In several specimens we detected the expression of genes belonging to the OCT3/SOX2/NANOG/KLF4 core circuitry that acts at the highest level in regulating stem cell biology...
  34. Long K, Hornick J. SOX2 is highly expressed in squamous cell carcinomas of the gastrointestinal tract. Hum Pathol. 2009;40:1768-73 pubmed publisher
    b>SOX2 is a high-mobility group box embryonic stem cell transcription factor that is expressed in the developing foregut and normal gastric epithelium and is downregulated in intestinal metaplasia of the stomach and esophagus...
  35. Gonzalez Rodriguez J, Pelcastre E, Tovilla Canales J, Garcia Ortiz J, Amato Almanza M, Villanueva Mendoza C, et al. Mutational screening of CHX10, GDF6, OTX2, RAX and SOX2 genes in 50 unrelated microphthalmia-anophthalmia-coloboma (MAC) spectrum cases. Br J Ophthalmol. 2010;94:1100-4 pubmed publisher
    ..Mutations in genes such as CHX10, GDF6, RAX, SOX2 and OTX2, among others, have been recognised in dominant or recessive MAC...
  36. Gen Y, Yasui K, Zen Y, Zen K, Dohi O, Endo M, et al. SOX2 identified as a target gene for the amplification at 3q26 that is frequently detected in esophageal squamous cell carcinoma. Cancer Genet Cytogenet. 2010;202:82-93 pubmed publisher
    b>SOX2 is a transcription factor with a high-mobility group DNA-binding domain that functions as a master regulator during embryogenesis and organogenesis...
  37. Cimadamore F, Amador Arjona A, Chen C, Huang C, Terskikh A. SOX2-LIN28/let-7 pathway regulates proliferation and neurogenesis in neural precursors. Proc Natl Acad Sci U S A. 2013;110:E3017-26 pubmed publisher
    The transcription factor SRY (sex-determining region)-box 2 (SOX2) is an important functional marker of neural precursor cells (NPCs) and plays a critical role in self-renewal and neuronal differentiation; however, the molecular ..
  38. Sholl L, Long K, Hornick J. Sox2 expression in pulmonary non-small cell and neuroendocrine carcinomas. Appl Immunohistochem Mol Morphol. 2010;18:55-61 pubmed publisher
    b>Sox2 is a transcription factor that regulates embryonic stem cell pluripotency and drives commitment of airway precursor cells to basal-type and neuroendocrine cells in the developing lung...
  39. Ahlfeld J, Favaro R, Pagella P, Kretzschmar H, Nicolis S, Schüller U. Sox2 requirement in sonic hedgehog-associated medulloblastoma. Cancer Res. 2013;73:3796-807 pubmed publisher
    The transcription factor Sox2 has been shown to play essential roles during embryonic development as well as in cancer...
  40. Verma A, Fitzpatrick D. Anophthalmia and microphthalmia. Orphanet J Rare Dis. 2007;2:47 pubmed
    ..Chromosomal duplications, deletions and translocations are implicated. Of monogenic causes only SOX2 has been identified as a major causative gene. Other linked genes include PAX6, OTX2, CHX10 and RAX...
  41. Schneider A, Bardakjian T, Reis L, Tyler R, Semina E. Novel SOX2 mutations and genotype-phenotype correlation in anophthalmia and microphthalmia. Am J Med Genet A. 2009;149A:2706-15 pubmed publisher
    b>SOX2 represents a High Mobility Group domain containing transcription factor that is essential for normal development in vertebrates...
  42. Matsuoka J, Yashiro M, Sakurai K, Kubo N, Tanaka H, Muguruma K, et al. Role of the stemness factors sox2, oct3/4, and nanog in gastric carcinoma. J Surg Res. 2012;174:130-5 pubmed publisher
    ..Recently, the stemness factors Sox2, Oct3/4, and Nanog were associated with induced pluripotent stem cells, suggesting a correlation between these ..
  43. Basu Roy U, Seo E, Ramanathapuram L, Rapp T, Perry J, Orkin S, et al. Sox2 maintains self renewal of tumor-initiating cells in osteosarcomas. Oncogene. 2012;31:2270-82 pubmed publisher
    ..In this report we show that the stem cell transcription factor Sox2 is highly expressed in human and murine osteosarcoma (mOS) cell lines as well as in the tumor samples...
  44. Tang X, Shen X, Li L, Zhang Y, Chen G. SOX2 overexpression correlates with poor prognosis in laryngeal squamous cell carcinoma. Auris Nasus Larynx. 2013;40:481-6 pubmed publisher
    The aim of present study was to investigate the expression of SOX2, a key transcription factor, in LSCC and to assess its prognostic significance...
  45. Du L, Yang Y, Xiao X, Wang C, Zhang X, Wang L, et al. Sox2 nuclear expression is closely associated with poor prognosis in patients with histologically node-negative oral tongue squamous cell carcinoma. Oral Oncol. 2011;47:709-13 pubmed publisher
    b>Sox2 is a marker of embryonic stem cell pluripotency and plays an important role in tumor progression...
  46. Li X, Eishi Y, Bai Y, Sakai H, Akiyama Y, Tani M, et al. Expression of the SRY-related HMG box protein SOX2 in human gastric carcinoma. Int J Oncol. 2004;24:257-63 pubmed
    b>SOX2, a SRY-related HMG box protein, is thought to be an important transcription factor during organogenesis, including the stomach although the expression and function are unclear...
  47. Cimpean A, Encica S, Raica M, Ribatti D. SOX2 gene expression in normal human thymus and thymoma. Clin Exp Med. 2011;11:251-4 pubmed publisher
    ..like small cell lung carcinoma, meningioma, gastric, and pancreatic cancer, have been found to be immunogenic for SOX2 protein...
  48. Williams D, Cai M, Clore G. Molecular basis for synergistic transcriptional activation by Oct1 and Sox2 revealed from the solution structure of the 42-kDa Oct1.Sox2.Hoxb1-DNA ternary transcription factor complex. J Biol Chem. 2004;279:1449-57 pubmed
    ..Upon binding of Sox2 to an adjacent site in the Hoxb1 regulatory element, all components of the ternary Oct1.Sox2...
  49. Ferletta M, Caglayan D, Mokvist L, Jiang Y, Kastemar M, Uhrbom L, et al. Forced expression of Sox21 inhibits Sox2 and induces apoptosis in human glioma cells. Int J Cancer. 2011;129:45-60 pubmed publisher
    Numerous studies support a role for Sox2 to keep stem cells and progenitor cells in an immature and proliferative state...
  50. Han X, Fang X, Lou X, Hua D, Ding W, Foltz G, et al. Silencing SOX2 induced mesenchymal-epithelial transition and its expression predicts liver and lymph node metastasis of CRC patients. PLoS ONE. 2012;7:e41335 pubmed publisher
    b>SOX2 is an important stem cell marker and plays important roles in development and carcinogenesis. However, the role of SOX2 in Epithelial-Mesenchymal Transition has not been investigated...
  51. Li X, Wang J, Xu Z, Ahmad A, Li E, Wang Y, et al. Expression of Sox2 and Oct4 and their clinical significance in human non-small-cell lung cancer. Int J Mol Sci. 2012;13:7663-75 pubmed publisher
    b>Sox2 and Oct4 are transcription factors with the characteristics of regulating self-renewal and differentiation of embryonic stem cell...
  52. Phi J, Park S, Paek S, Kim S, Lee Y, Park C, et al. Expression of Sox2 in mature and immature teratomas of central nervous system. Mod Pathol. 2007;20:742-8 pubmed
    b>Sox2 is a transcription factor that plays a critical role in the maintenance of the self-renewal capability of neural stem cells...
  53. Greber B, Lehrach H, Adjaye J. Silencing of core transcription factors in human EC cells highlights the importance of autocrine FGF signaling for self-renewal. BMC Dev Biol. 2007;7:46 pubmed
    ..RNAi-mediated silencing of OCT4 and SOX2 induced differentiation with mesodermal characteristics...
  54. Bakrania P, Robinson D, Bunyan D, Salt A, Martin A, Crolla J, et al. SOX2 anophthalmia syndrome: 12 new cases demonstrating broader phenotype and high frequency of large gene deletions. Br J Ophthalmol. 2007;91:1471-6 pubmed
    ..Heterozygous mutations in SOX2, a SOX1B-HMG box transcription factor, have been found in up to 10% of individuals with severe microphthalmia or ..
  55. Aota S, Nakajima N, Sakamoto R, Watanabe S, Ibaraki N, Okazaki K. Pax6 autoregulation mediated by direct interaction of Pax6 protein with the head surface ectoderm-specific enhancer of the mouse Pax6 gene. Dev Biol. 2003;257:1-13 pubmed
    ..sequence contains three plausible sites of HMG domain recognition, and HMG domain-containing transcription factors Sox2 and Sox3 activated LE9 synergistically with Pax6...
  56. Tsukamoto T, Mizoshita T, Mihara M, Tanaka H, Takenaka Y, Yamamura Y, et al. Sox2 expression in human stomach adenocarcinomas with gastric and gastric-and-intestinal-mixed phenotypes. Histopathology. 2005;46:649-58 pubmed
    ..We have reported that Sox2, an HMG-box gastric transcription factor, is expressed in normal gastric mucosa and down-regulated in intestinal ..
  57. Zenteno J, Gascon Guzman G, Tovilla Canales J. Bilateral anophthalmia and brain malformations caused by a 20-bp deletion in the SOX2 gene. Clin Genet. 2005;68:564-6 pubmed
  58. Park I, Zhao R, West J, Yabuuchi A, Huo H, Ince T, et al. Reprogramming of human somatic cells to pluripotency with defined factors. Nature. 2008;451:141-6 pubmed
    ..have been reprogrammed directly to pluripotency by ectopic expression of four transcription factors (Oct4, Sox2, Klf4 and Myc) to yield induced pluripotent stem (iPS) cells...
  59. Gillis A, Stoop H, Biermann K, van Gurp R, Swartzman E, Cribbes S, et al. Expression and interdependencies of pluripotency factors LIN28, OCT3/4, NANOG and SOX2 in human testicular germ cells and tumours of the testis. Int J Androl. 2011;34:e160-74 pubmed publisher
    OCT3/4, NANOG, SOX2 and, most recently, LIN28 have been identified as key regulators of pluripotency in mammalian embryonic and induced stem cells, and are proven to be crucial for generation of the mouse germ-cell lineage...
  60. Zhang Y, Eades G, Yao Y, Li Q, Zhou Q. Estrogen receptor ? signaling regulates breast tumor-initiating cells by down-regulating miR-140 which targets the transcription factor SOX2. J Biol Chem. 2012;287:41514-22 pubmed publisher
    ..We found that the stem cell self-renewal regulator SOX2 is a novel target of miR-140, and that this miR-140/SOX2 pathway critically regulates breast tumor-initiating cell ..
  61. Wang P, Liang X, Yi J, Zhang Q. Novel SOX2 mutation associated with ocular coloboma in a Chinese family. Arch Ophthalmol. 2008;126:709-13 pubmed publisher
    To report a novel SOX2 (OMIM 184429) mutation in a Chinese family and to describe its ocular and extraocular clinical features.
  62. Lengerke C, Fehm T, Kurth R, Neubauer H, Scheble V, Müller F, et al. Expression of the embryonic stem cell marker SOX2 in early-stage breast carcinoma. BMC Cancer. 2011;11:42 pubmed publisher
    The SRY-related HMG-box family of transcription factors member SOX2 has been mainly studied in embryonic stem cells as well as early foregut and neural development...
  63. Wilbertz T, Wagner P, Petersen K, Stiedl A, Scheble V, Maier S, et al. SOX2 gene amplification and protein overexpression are associated with better outcome in squamous cell lung cancer. Mod Pathol. 2011;24:944-53 pubmed publisher
    The transcription factor SOX2 (3q26.3-q27) is a key regulator of foregut development and an embryonic stem cell factor cooperating during induction of pluripotency in terminally differentiated somatic cells...
  64. Hägerstrand D, He X, Bradic Lindh M, Hoefs S, Hesselager G, Ostman A, et al. Identification of a SOX2-dependent subset of tumor- and sphere-forming glioblastoma cells with a distinct tyrosine kinase inhibitor sensitivity profile. Neuro Oncol. 2011;13:1178-91 pubmed publisher
    ..The type A cultures displayed high expression of CXCR4, SOX2, EAAT1, and GFAP and low expression of CNP, PDGFRB, CXCL12, and extracellular matrix proteins...
  65. Rudin C, Durinck S, Stawiski E, Poirier J, Modrusan Z, Shames D, et al. Comprehensive genomic analysis identifies SOX2 as a frequently amplified gene in small-cell lung cancer. Nat Genet. 2012;44:1111-6 pubmed publisher
    ..We found that several members of the SOX family of genes were mutated in SCLC. We also found SOX2 amplification in ?27% of the samples...
  66. Brcic L, Sherer C, Shuai Y, Hornick J, Chirieac L, Dacic S. Morphologic and clinicopathologic features of lung squamous cell carcinomas expressing Sox2. Am J Clin Pathol. 2012;138:712-8 pubmed publisher
    b>Sox2 amplification was recently reported as a common event in squamous cell carcinomas (SCCs) occurring at different anatomic sites including the lung...
  67. Sanada Y, Yoshida K, Ohara M, Oeda M, Konishi K, Tsutani Y. Histopathologic evaluation of stepwise progression of pancreatic carcinoma with immunohistochemical analysis of gastric epithelial transcription factor SOX2: comparison of expression patterns between invasive components and cancerous or nonneoplastic. Pancreas. 2006;32:164-70 pubmed
    The purpose of this study was to perform histopathologic and immunohistochemical analyses of gastric transcription factor SOX2 and gastric mucin MUC5AC to better understand the stepwise progression of pancreatic carcinoma...
  68. Perrett R, Turnpenny L, Eckert J, O Shea M, Sonne S, Cameron I, et al. The early human germ cell lineage does not express SOX2 during in vivo development or upon in vitro culture. Biol Reprod. 2008;78:852-8 pubmed publisher
    NANOG, POU5F1, and SOX2 are required by the inner cell mass of the blastocyst and act cooperatively to maintain pluripotency in both mouse and human embryonic stem cells...
  69. Asonuma S, Imatani A, Asano N, Oikawa T, Konishi H, Iijima K, et al. Helicobacter pylori induces gastric mucosal intestinal metaplasia through the inhibition of interleukin-4-mediated HMG box protein Sox2 expression. Am J Physiol Gastrointest Liver Physiol. 2009;297:G312-22 pubmed publisher
    ..A SRY-related HMG box protein Sox2 is an essential transcription factor of organ development in brain, lung, and stomach...
  70. Gu H, Alvarsson A, Efendic S, Brismar K. SOX2 has gender-specific genetic effects on diabetic nephropathy in samples from patients with type 1 diabetes mellitus in the GoKinD study. Gend Med. 2009;6:555-64 pubmed publisher
    Sex-determining region Y-box 2 (SOX2) is a transcription factor that plays an important role in the induction of pluripotent stem cells from somatic cells. The SOX2 gene is located in chromosome 3q26...
  71. Huang P, Qiu J, Li B, Hong J, Lu C, Wang L, et al. Role of Sox2 and Oct4 in predicting survival of hepatocellular carcinoma patients after hepatectomy. Clin Biochem. 2011;44:582-9 pubmed publisher
    The present study was aimed to explore the prognostic strength of Sox2 and Oct4A in hepatocellular carcinoma (HCC)...
  72. Leis O, Eguiara A, López Arribillaga E, Alberdi M, Hernández García S, Elorriaga K, et al. Sox2 expression in breast tumours and activation in breast cancer stem cells. Oncogene. 2012;31:1354-65 pubmed publisher
    ..Expression of pluripotency genes (Oct4, Nanog and Sox2) was tested in breast tumours by immunohistochemistry and it was found that Sox2 is expressed in early stage breast ..
  73. Lin F, Lin P, Zhao D, Chen Y, Xiao L, Qin W, et al. Sox2 targets cyclinE, p27 and survivin to regulate androgen-independent human prostate cancer cell proliferation and apoptosis. Cell Prolif. 2012;45:207-16 pubmed publisher
    b>Sox2 is a major transcription factor and the transforming growth factor-? (TGF-?)/EGFR autocrine loop is a hallmark of prostate cancer progression...
  74. Chen S, Xu Y, Chen Y, Li X, Mou W, Wang L, et al. SOX2 gene regulates the transcriptional network of oncogenes and affects tumorigenesis of human lung cancer cells. PLoS ONE. 2012;7:e36326 pubmed publisher
    ..have higher tumorigenesis properties than those of differentiated cancer cells and that transcriptional factor-SOX2 plays a vital role in maintaining the unique properties of CSCs; however, the function and underlying mechanism of ..
  75. Cox J, Mallanna S, Luo X, Rizzino A. Sox2 uses multiple domains to associate with proteins present in Sox2-protein complexes. PLoS ONE. 2010;5:e15486 pubmed publisher
    Master regulators, such as Sox2, Oct4 and Nanog, control complex gene networks necessary for the self-renewal and pluripotency of embryonic stem cells (ESC)...
  76. Otsubo T, Akiyama Y, Hashimoto Y, Shimada S, Goto K, Yuasa Y. MicroRNA-126 inhibits SOX2 expression and contributes to gastric carcinogenesis. PLoS ONE. 2011;6:e16617 pubmed publisher
    SRY (sex-determining region Y)-box 2 (SOX2) is a crucial transcription factor for the maintenance of embryonic stem cell pluripotency and the determination of cell fate...
  77. Alonso M, Díez Valle R, Manterola L, Rubio A, Liu D, Cortes Santiago N, et al. Genetic and epigenetic modifications of Sox2 contribute to the invasive phenotype of malignant gliomas. PLoS ONE. 2011;6:e26740 pubmed publisher
    We undertook this study to understand how the transcription factor Sox2 contributes to the malignant phenotype of glioblastoma multiforme (GBM), the most aggressive primary brain tumor...
  78. Zhang J, Chang D, Mercado Uribe I, Liu J. Sex-determining region Y-box 2 expression predicts poor prognosis in human ovarian carcinoma. Hum Pathol. 2012;43:1405-12 pubmed publisher
    ..035; log-rank test). Our results showed that sex-determining region Y-box 2 expression may be a potential marker related to tumor recurrence, as implicated by its role in cancer stem cells. ..
  79. Yuan H, Corbi N, Basilico C, Dailey L. Developmental-specific activity of the FGF-4 enhancer requires the synergistic action of Sox2 and Oct-3. Genes Dev. 1995;9:2635-45 pubmed
    ..Through the cloning and characterization of an F9 cell cDNA we now show that the latter activity is Sox2, a member of the Sry-related Sox factors family...
  80. Otsubo T, Akiyama Y, Yanagihara K, Yuasa Y. SOX2 is frequently downregulated in gastric cancers and inhibits cell growth through cell-cycle arrest and apoptosis. Br J Cancer. 2008;98:824-31 pubmed publisher
    ..We previously reported that the SOX2 protein is expressed in normal gastric mucosae but downregulated in some human gastric carcinomas...
  81. Jia X, Li X, Xu Y, Zhang S, Mou W, Liu Y, et al. SOX2 promotes tumorigenesis and increases the anti-apoptotic property of human prostate cancer cell. J Mol Cell Biol. 2011;3:230-8 pubmed publisher
    SRY-related HMG-box gene 2 (SOX2) is one of the key regulatory genes that maintain the pluripotency and self-renewal properties in embryonic stem cells...
  82. Nakatsugawa M, Takahashi A, Hirohashi Y, Torigoe T, Inoda S, Murase M, et al. SOX2 is overexpressed in stem-like cells of human lung adenocarcinoma and augments the tumorigenicity. Lab Invest. 2011;91:1796-804 pubmed publisher
    Recently, the SOX2 gene has been reported to be amplified in human lung squamous cell carcinomas. However, its roles in human lung adenocarcinomas are still elusive...
  83. Park S, Seo K, So A, Seo M, Yu K, Kang S, et al. SOX2 has a crucial role in the lineage determination and proliferation of mesenchymal stem cells through Dickkopf-1 and c-MYC. Cell Death Differ. 2012;19:534-45 pubmed publisher
    b>SOX2 is a well-known core transcription factor in embryonic stem cells (ESCs) and has an important role in the maintenance of pluripotency...
  84. Singh S, Trevino J, Bora Singhal N, Coppola D, Haura E, Altiok S, et al. EGFR/Src/Akt signaling modulates Sox2 expression and self-renewal of stem-like side-population cells in non-small cell lung cancer. Mol Cancer. 2012;11:73 pubmed publisher
    ..In vitro study revealed elevated expression of stem cell associated markers like Oct4, Sox2 and Nanog as well as demonstrated intrinsic epithelial to mesenchymal transition features in SP cells...
  85. Sikorska M, Sandhu J, Deb Rinker P, Jezierski A, Leblanc J, Charlebois C, et al. Epigenetic modifications of SOX2 enhancers, SRR1 and SRR2, correlate with in vitro neural differentiation. J Neurosci Res. 2008;86:1680-93 pubmed publisher
    b>SOX2 is a key neurodevelopmental gene involved in maintaining the pluripotency of stem cells and proliferation of neural progenitors and astroglia...
  86. Chen Y, Shi L, Zhang L, Li R, Liang J, Yu W, et al. The molecular mechanism governing the oncogenic potential of SOX2 in breast cancer. J Biol Chem. 2008;283:17969-78 pubmed publisher
    ..Using cell culture experiments, tissue analysis, molecular profiling, and animal studies, we report here that SOX2 promotes cell proliferation and tumorigenesis by facilitating the G(1)/S transition and through its transcription ..
  87. Card D, Hebbar P, Li L, Trotter K, Komatsu Y, Mishina Y, et al. Oct4/Sox2-regulated miR-302 targets cyclin D1 in human embryonic stem cells. Mol Cell Biol. 2008;28:6426-38 pubmed publisher
    Oct4 and Sox2 are transcription factors required for pluripotency during early embryogenesis and for the maintenance of embryonic stem cell (ESC) identity...
  88. Yuan P, Kadara H, Behrens C, Tang X, Woods D, Solis L, et al. Sex determining region Y-Box 2 (SOX2) is a potential cell-lineage gene highly expressed in the pathogenesis of squamous cell carcinomas of the lung. PLoS ONE. 2010;5:e9112 pubmed publisher
    ..We assessed the expression of SOX2, an embryonic stem cell transcriptional factor that also plays important roles in the proliferation of basal ..
  89. McCaughan F, Pole J, Bankier A, Konfortov B, Carroll B, Falzon M, et al. Progressive 3q amplification consistently targets SOX2 in preinvasive squamous lung cancer. Am J Respir Crit Care Med. 2010;182:83-91 pubmed publisher
    ..identify a minimum commonly amplified region on chromosome 3 consisting of 17 genes, including 2 known oncogenes, SOX2 and PIK3CA. We confirm that both genes are amplified in all high-grade dysplastic lesions tested...
  90. Luo W, Li S, Peng B, Ye Y, Deng X, Yao K. Embryonic stem cells markers SOX2, OCT4 and Nanog expression and their correlations with epithelial-mesenchymal transition in nasopharyngeal carcinoma. PLoS ONE. 2013;8:e56324 pubmed publisher
    Expression of embryonic stem cells (ESCs) markers (SOX2, OCT4, Nanog and Nestin) is crucial for progression of various human malignancies...
  91. Williamson K, Hever A, Rainger J, Rogers R, Magee A, Fiedler Z, et al. Mutations in SOX2 cause anophthalmia-esophageal-genital (AEG) syndrome. Hum Mol Genet. 2006;15:1413-22 pubmed
    We report heterozygous, loss-of-function SOX2 mutations in three unrelated individuals with Anophthalmia-Esophageal-Genital (AEG) syndrome. One previously reported case [Rogers, R.C. (1988) Unknown cases...
  92. Sholl L, Barletta J, Yeap B, Chirieac L, Hornick J. Sox2 protein expression is an independent poor prognostic indicator in stage I lung adenocarcinoma. Am J Surg Pathol. 2010;34:1193-8 pubmed publisher
    Many patients with stage I nonsmall cell lung carcinoma will develop recurrence after surgical excision. Sox2 is a marker of embryonic stem cell pluripotency that is associated with aggressive tumor behavior and is expressed in a subset ..