soxe transcription factors


Summary: A subclass of closely-related SOX transcription factors. Members of this subfamily have been implicated in regulating the differentiation of OLIGODENDROCYTES during neural crest formation and in CHONDROGENESIS.

Top Publications

  1. Viñuela A, Morín M, Villamar M, Morera C, Lavilla M, Cavallé L, et al. Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV. Am J Med Genet A. 2009;149A:2296-302 pubmed publisher
  2. Mori T, Sukeda A, Sekine S, Shibata S, Ryo E, Okano H, et al. SOX10 Expression as Well as BRAF and GNAQ/11 Mutations Distinguish Pigmented Ciliary Epithelium Neoplasms From Uveal Melanomas. Invest Ophthalmol Vis Sci. 2017;58:5445-5451 pubmed publisher
    ..APCE is a separate entity distinguished from UM by the absence of SOX10 expression and presence of the BRAF V600E mutation. These results have implications for diagnosis, providing a means to distinguish between UM and APCE. ..
  3. Wang X, Hao Z, Liu Y, Mei L, He C, Niu Z, et al. Functional analysis of a SOX10 gene mutation associated with Waardenburg syndrome II. Biochem Biophys Res Commun. 2017;493:258-262 pubmed publisher
    ..Therefore, the mutant cannot transactivate the MITF promoter effectively, inhibiting melanin synthesis and leading to WS2. Our study confirmed haploinsufficiency as the underlying pathogenesis for WS2. ..
  4. Jalilian N, Tabatabaiefar M, Alimadadi H, Noori Daloii M. SOX10 mutation causes Waardenburg syndrome associated with distinctive phenotypic features in an Iranian family: A clue for phenotype-directed genetic analysis. Int J Pediatr Otorhinolaryngol. 2017;96:122-126 pubmed publisher
  5. Blochin E, Nonaka D. Diagnostic value of Sox10 immunohistochemical staining for the detection of metastatic melanoma in sentinel lymph nodes. Histopathology. 2009;55:626-8 pubmed publisher
  6. Garg A, Bansal M, Gotoh N, Feng G, Zhong J, Wang F, et al. Alx4 relays sequential FGF signaling to induce lacrimal gland morphogenesis. PLoS Genet. 2017;13:e1007047 pubmed publisher
    ..Inactivation of ALX4/Alx4 causes lacrimal gland aplasia in both human and mouse. These results reveal a key role of Alx4 in mediating FGF-Shp2-FGF signaling in the neural crest for lacrimal gland development. ..
  7. Schock E, Brugmann S. Neural crest cells utilize primary cilia to regulate ventral forebrain morphogenesis via Hedgehog-dependent regulation of oriented cell division. Dev Biol. 2017;431:168-178 pubmed publisher
    ..Together, these data suggest a novel, cilia-dependent mechanism for NCCs during forebrain development. ..
  8. Nelson E, Sharma R, Argani P, Cimino Mathews A. Utility of Sox10 labeling in metastatic breast carcinomas. Hum Pathol. 2017;67:205-210 pubmed publisher
    ..Sox10 labeling is seen in a subset of metastatic triple-negative breast carcinomas, supporting its use as a marker of breast origin in this setting. ..
  9. Wang D, Wu F, Yuan H, Wang A, Kang G, Truong T, et al. Sox10+ Cells Contribute to Vascular Development in Multiple Organs-Brief Report. Arterioscler Thromb Vasc Biol. 2017;37:1727-1731 pubmed publisher

More Information


  1. Shaffer S, Dunagin M, Torborg S, Torre E, Emert B, Krepler C, et al. Rare cell variability and drug-induced reprogramming as a mode of cancer drug resistance. Nature. 2017;546:431-435 pubmed publisher
    ..We find that other cell types also exhibit sporadic expression of many of these same marker genes, suggesting the existence of a general program in which expression is displayed in rare subpopulations of cells. ..
  2. Pomp V, Leo C, Mauracher A, Korol D, Guo W, Varga Z. Differential expression of epithelial–mesenchymal transition and stem cell markers in intrinsic subtypes of breast cancer. Breast Cancer Res Treat. 2015;154:45-55 pubmed
    ..This information is important in understanding the biology of triple negative breast cancer, also in terms of future studies dealing with targeted therapies based on the alterations of EMT and stem cell markers. ..
  3. Wisell J, Kleinschmidt Demasters B. Sox10 nuclear immunostaining lacks diagnostic utility for CNS granular cell tumors. J Neuropathol Exp Neurol. 2014;73:98-100 pubmed publisher
  4. Kataruka S, Akhade V, Kayyar B, Rao M. Mrhl Long Noncoding RNA Mediates Meiotic Commitment of Mouse Spermatogonial Cells by Regulating Sox8 Expression. Mol Cell Biol. 2017;37: pubmed publisher
    ..Prolonged Wnt signaling activation in spermatogonial cells leads to changes in global chromatin architecture and a decrease in levels of stem cell markers. ..
  5. Wiese C, Deal K, Ireland S, Cantrell V, Southard Smith E. Migration pathways of sacral neural crest during development of lower urogenital tract innervation. Dev Biol. 2017;429:356-369 pubmed publisher
    ..Taken together, the developmental atlas of Sox10+ NCPC migration and distribution profile of these cells in adult bladder provided here will serve as a roadmap for future investigation in mouse models of lower urinary tract dysfunction. ..
  6. Ronnstrand L, Phung B. Enhanced SOX10 and KIT expression in cutaneous melanoma. Med Oncol. 2013;30:648 pubmed publisher
  7. Loftus S. Decreased melanoma proliferation and cell survival: turn down your SOX10. Pigment Cell Melanoma Res. 2013;26:3-4 pubmed
  8. Heerema M, Suurmeijer A. Sox10 immunohistochemistry allows the pathologist to differentiate between prototypical granular cell tumors and other granular cell lesions. Histopathology. 2012;61:997-9 pubmed publisher
  9. Emery B. Playing the field: Sox10 recruits different partners to drive central and peripheral myelination. PLoS Genet. 2013;9:e1003918 pubmed publisher