SOX10

Summary

Gene Symbol: SOX10
Description: SRY-box 10
Alias: DOM, PCWH, WS2E, WS4, WS4C, transcription factor SOX-10, SRY (sex determining region Y)-box 10, SRY-related HMG-box gene 10, dominant megacolon, mouse, human homolog of
Species: human
Products:     SOX10

Top Publications

  1. Schlierf B, Lang S, Kosian T, Werner T, Wegner M. The high-mobility group transcription factor Sox10 interacts with the N-myc-interacting protein Nmi. J Mol Biol. 2005;353:1033-42 pubmed
    The high-mobility group transcription factor Sox10 exerts many different roles during development of the neural crest and nervous system. To unravel its complex transcriptional functions, we have started to look for interaction partners...
  2. Nonaka D, Chiriboga L, Rubin B. Sox10: a pan-schwannian and melanocytic marker. Am J Surg Pathol. 2008;32:1291-8 pubmed publisher
    ..b>Sox10 is a neural crest transcription factor crucial for specification, maturation, and maintenance of Schwann cells and ..
  3. Ferletta M, Uhrbom L, Olofsson T, Ponten F, Westermark B. Sox10 has a broad expression pattern in gliomas and enhances platelet-derived growth factor-B--induced gliomagenesis. Mol Cancer Res. 2007;5:891-7 pubmed
    ..genes in the mouse using a Moloney mouse leukemia virus encoding platelet-derived growth factor (PDGF)-B, the Sox10 gene was tagged in five independent tumors. The proviral integrations suggest an enhancer effect on Sox10...
  4. Bondurand N, Dastot Le Moal F, Stanchina L, Collot N, Baral V, Marlin S, et al. Deletions at the SOX10 gene locus cause Waardenburg syndrome types 2 and 4. Am J Hum Genet. 2007;81:1169-85 pubmed
    ..Mutations within the genes MITF and SNAI2 have been identified in WS2, whereas mutations of EDN3, EDNRB, and SOX10 have been observed in patients with WS4...
  5. Flammiger A, Besch R, Cook A, Maier T, Sturm R, Berking C. SOX9 and SOX10 but not BRN2 are required for nestin expression in human melanoma cells. J Invest Dermatol. 2009;129:945-53 pubmed publisher
    ..SOX9 and SOX10 have been shown to be expressed in melanocyte precursors, with SOX10 downregulated upon differentiation...
  6. Southard Smith E, Kos L, Pavan W. Sox10 mutation disrupts neural crest development in Dom Hirschsprung mouse model. Nat Genet. 1998;18:60-4 pubmed
    ..We have determined that premature termination of Sox10, a member of the SRY-like HMG box family of transcription factors, is responsible for absence of the neural crest ..
  7. Bondurand N, Pingault V, Goerich D, Lemort N, Sock E, Le Caignec C, et al. Interaction among SOX10, PAX3 and MITF, three genes altered in Waardenburg syndrome. Hum Mol Genet. 2000;9:1907-17 pubmed
    ..mutations in the endothelin-B receptor gene (EDNRB), in the gene for its ligand, endothelin-3 (EDN3), or in the SOX10 gene. PAX3 has been shown to regulate MITF gene expression...
  8. Lang D, Epstein J. Sox10 and Pax3 physically interact to mediate activation of a conserved c-RET enhancer. Hum Mol Genet. 2003;12:937-45 pubmed
    ..One example is Waardenburg syndrome that can be caused by mutations in the PAX3, SOX10 or MITF genes...
  9. Inoue K, Khajavi M, Ohyama T, Hirabayashi S, Wilson J, Reggin J, et al. Molecular mechanism for distinct neurological phenotypes conveyed by allelic truncating mutations. Nat Genet. 2004;36:361-9 pubmed
    ..Truncating mutations of SOX10 cause either a complex neurocristopathy designated PCWH or a more restricted phenotype known as Waardenburg-Shah ..

More Information

Publications113 found, 100 shown here

  1. Cronin J, Wunderlich J, Loftus S, Prickett T, Wei X, Ridd K, et al. Frequent mutations in the MITF pathway in melanoma. Pigment Cell Melanoma Res. 2009;22:435-44 pubmed publisher
    ..Sequence analysis for SOX10, a transcription factor, which both acts upstream of MITF and synergizes with MITF, identified an additional three ..
  2. Doddrell R, Dun X, Shivane A, Feltri M, Wrabetz L, Wegner M, et al. Loss of SOX10 function contributes to the phenotype of human Merlin-null schwannoma cells. Brain. 2013;136:549-63 pubmed publisher
    ..of myelinating and non-myelinating Schwann cells is regulated by a network of transcription factors that include SOX10, OCT6 (now known as POU3F1), NFATC4 and KROX20 (also known as Egr2)...
  3. Pingault V, Bondurand N, Kuhlbrodt K, Goerich D, Prehu M, Puliti A, et al. SOX10 mutations in patients with Waardenburg-Hirschsprung disease. Nat Genet. 1998;18:171-3 pubmed
    ..The identification of Sox10 as the gene mutated in Dom mice (B.H. et al...
  4. Pusch C, Hustert E, Pfeifer D, Sudbeck P, Kist R, Roe B, et al. The SOX10/Sox10 gene from human and mouse: sequence, expression, and transactivation by the encoded HMG domain transcription factor. Hum Genet. 1998;103:115-23 pubmed
    ..We have cloned and sequenced the SOX10 and Sox10 genes from human and mouse, respectively...
  5. Cook A, Smith A, Smit D, Leonard J, Sturm R. Co-expression of SOX9 and SOX10 during melanocytic differentiation in vitro. Exp Cell Res. 2005;308:222-35 pubmed
    ..Of these, the POU domain factor BRN2 and the SOX family member SOX10 are both highly expressed in unpigmented melanocyte precursors but are down-regulated upon differentiation...
  6. Girard M, Goossens M. Sumoylation of the SOX10 transcription factor regulates its transcriptional activity. FEBS Lett. 2006;580:1635-41 pubmed
    SRY-related HMG box-containing factor 10 (SOX10) is a transcription factor essential for neural crest development and differentiation, and involved in Waardenburg syndrome type IV and PCWH syndrome...
  7. Chaoui A, Watanabe Y, Touraine R, Baral V, Goossens M, Pingault V, et al. Identification and functional analysis of SOX10 missense mutations in different subtypes of Waardenburg syndrome. Hum Mutat. 2011;32:1436-49 pubmed publisher
    ..WS is genetically heterogeneous, with six genes already identified, including SOX10. About 50 heterozygous SOX10 mutations have been described in patients presenting with WS2 or WS4, with or without ..
  8. Shakhova O, Zingg D, Schaefer S, Hari L, Civenni G, Blunschi J, et al. Sox10 promotes the formation and maintenance of giant congenital naevi and melanoma. Nat Cell Biol. 2012;14:882-90 pubmed publisher
    ..Here we describe a mouse model for giant congenital naevi and show that naevi and melanoma prominently express Sox10, a transcription factor crucial for the formation of melanocytes from the neural crest...
  9. Kuhlbrodt K, Schmidt C, Sock E, Pingault V, Bondurand N, Goossens M, et al. Functional analysis of Sox10 mutations found in human Waardenburg-Hirschsprung patients. J Biol Chem. 1998;273:23033-8 pubmed
    The Sry-related protein Sox10 is selectively expressed in neural crest cells during early stages of development and in glial cells of the peripheral and central nervous systems during late development and in the adult...
  10. Touraine R, Attie Bitach T, Manceau E, Korsch E, Sarda P, Pingault V, et al. Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain. Am J Hum Genet. 2000;66:1496-503 pubmed
    ..It is inherited as an autosomal dominant condition when SOX10 mutations are involved...
  11. Cimino Mathews A, Subhawong A, Elwood H, Warzecha H, Sharma R, Park B, et al. Neural crest transcription factor Sox10 is preferentially expressed in triple-negative and metaplastic breast carcinomas. Hum Pathol. 2013;44:959-65 pubmed publisher
    The transcription factor Sox10 mediates the differentiation of neural crest-derived cells, and Sox10 labeling by immunohistochemistry (IHC) is used clinically primarily to support the diagnosis of melanoma...
  12. Li T, Wu Q, Zhang C, Li W, Zhou Q, Jiang W, et al. 46,XX testicular disorder of sexual development with SRY-negative caused by some unidentified mechanisms: a case report and review of the literature. BMC Urol. 2014;14:104 pubmed publisher
    ..No mutation was detected in the coding region and exon/intron boundaries of the RSPO1, DAX1, SOX9, SOX3, SOX10, ROCK1, and DMRT genes, and no copy number variation in the whole genome sequence was found...
  13. Schriemer D, Sribudiani Y, IJpma A, Natarajan D, MacKenzie K, Metzger M, et al. Regulators of gene expression in Enteric Neural Crest Cells are putative Hirschsprung disease genes. Dev Biol. 2016;416:255-265 pubmed publisher
    ..Predicted regulators of gene expression in ENCCs include the known HSCR genes Ret and Sox10, as well as Bdnf, App and Mapk10...
  14. Powers S, Odom M, Pak E, Moomaw M, Ashcraft K, Koontz B, et al. Prostate-Confined Radiation Decreased Pelvic Ganglia Neuronal Survival and Outgrowth. J Sex Med. 2019;16:27-41 pubmed publisher
    ..of genes related to nerve type, neuron injury, repair, and myelination, such as Ninj-1, Rac1, ATF3, GAP43, GFAP, SOX10, and KROX20...
  15. Lankford L, Selby T, Becker J, Ryzhuk V, Long C, Farmer D, et al. Early gestation chorionic villi-derived stromal cells for fetal tissue engineering. World J Stem Cells. 2015;7:195-207 pubmed publisher
    ..displayed trilineage differentiation capability, and were found to express developmental transcription factors Sox10 and Sox17 as well as neural-related structural proteins NFM, Nestin, and S100β...
  16. Fujiwara N, Miyahara K, Nakazawa Tanaka N, Akazawa C, Yamataka A. Increased expression of Semaphorin 3A in the endothelin receptor-B null mouse model of Hirschsprung disease. J Pediatr Surg. 2018;53:326-329 pubmed publisher
    ..Thus, the aim of our study was to determine the expression of SEMA3A using Sox10-Venus mice gut. We harvested the gut on postnatal day 2 (P2)...
  17. Eason J, Williams A, Chawla B, Apsey C, Bohnsack B. Differences in neural crest sensitivity to ethanol account for the infrequency of anterior segment defects in the eye compared with craniofacial anomalies in a zebrafish model of fetal alcohol syndrome. Birth Defects Res. 2017;109:1212-1227 pubmed publisher
    ..foxd3-positive neural crest cells in the periocular mesenchyme and developing eye were less sensitive to ETOH than sox10-positive craniofacial neural crest cells that form the pharyngeal arches and jaw...
  18. Muller Q, Beaudet M, De Serres Bérard T, Bellenfant S, Flacher V, Berthod F. Development of an innervated tissue-engineered skin with human sensory neurons and Schwann cells differentiated from iPS cells. Acta Biomater. 2018;82:93-101 pubmed publisher
    ..also successfully differentiated from human iPSC as shown by their expression of the markers S100, GFAP, p75 and SOX10. When cultured for one additional month in the TES model, iPSC-derived neurons seeded at the bottom of the sponge ..
  19. Zhao M, Zhao T, Ma J, Wu C, Chen L, Ru G, et al. [Clinicopathologic and molecular characteristics of malignant gastrointestinal neuroectodermal tumors]. Zhonghua Bing Li Xue Za Zhi. 2017;46:750-755 pubmed publisher
    ..By immunohistochemistry, both tumors showed strong and diffuse expression of SOX10 and S-100, and focal to diffuse expression of neuroendocrine markers (CD56 or synaptophysin)...
  20. Zhao M, LaoI Q, Zhao D, Ma J, Ru G, He X, et al. [Clinicopathologic and molecular genetic characterizations of biphenotypic sinonasal sarcoma]. Zhonghua Bing Li Xue Za Zhi. 2017;46:841-846 pubmed publisher
    ..None of the 3 showed positivity to cytokeratin, CD34 or SOX10 in the tumor cells.Ki-67 showed an index <5%, 10% and <2%, respectively...
  21. Xu Y, Zhang H, Pan B, Zhang S, Wang S, Niu Q. Transcriptome-Wide Identification of Differentially Expressed Genes and Long Non-coding RNAs in Aluminum-Treated Rat Hippocampus. Neurotox Res. 2018;34:220-232 pubmed publisher
    ..RT-PCR and western blotting validated the significant increase in expression of glial cell-related genes GFAP and SOX10 following Al exposure compared with control rats, consistent with RNA-seq results...
  22. Ogawa R, Fujita K, Ito K. Mouse embryonic dorsal root ganglia contain pluripotent stem cells that show features similar to embryonic stem cells and induced pluripotent stem cells. Biol Open. 2017;6:602-618 pubmed publisher
    ..transcription factors in the DRG cells was regulated by chromodomain helicase DNA-binding protein 7 and Sox10, which are indispensable for the formation of NCSCs, and vice versa...
  23. Kawai H, Satomi K, Morishita Y, Murata Y, Sugano M, Nakano N, et al. Developmental markers of ganglion cells in the enteric nervous system and their application for evaluation of Hirschsprung disease. Pathol Int. 2014;64:432-42 pubmed publisher
    ..age, the labeling index (LI) for both calretinin and tyrosine hydroxylase (TH) increased, whereas that for SOX10 decreased...
  24. Lobikin M, Lobo D, Blackiston D, Martyniuk C, Tkachenko E, Levin M. Serotonergic regulation of melanocyte conversion: A bioelectrically regulated network for stochastic all-or-none hyperpigmentation. Sci Signal. 2015;8:ra99 pubmed publisher
    ..adenosine 3',5'-monophosphate (cAMP), and the transcription factors cAMP response element-binding protein (CREB), Sox10, and Slug...
  25. Boland J, Folpe A. Oncocytic variant of malignant gastrointestinal neuroectodermal tumor: a potential diagnostic pitfall. Hum Pathol. 2016;57:13-16 pubmed publisher
    ..By immunohistochemistry, these tumors show expression of S100 protein and SOX10, in the absence of expression of more specific melanocytic markers (eg, HMB45, Melan A)...
  26. Sato S, Yajima H, Furuta Y, Ikeda K, Kawakami K. Activation of Six1 Expression in Vertebrate Sensory Neurons. PLoS ONE. 2015;10:e0136666 pubmed publisher
    ..The unique features of the mSix1-8-NLSCre line are the absence of Cre-mediated recombination in SOX10-positive glial cells and central nervous system and ability to induce recombination in a subset of neurons derived ..
  27. Watanabe N, Motohashi T, Nishioka M, Kawamura N, Hirobe T, Kunisada T. Multipotency of melanoblasts isolated from murine skin depends on the Notch signal. Dev Dyn. 2016;245:460-71 pubmed publisher
    ..Using Sox10-IRES-Venus mice and mouse embryonic stem cells, we investigated how MBs expressed their multipotency...
  28. Liang F, Zhao M, Fan L, Zhang H, Shi Y, Han R, et al. Identification of a de novo mutation of SOX10 in a Chinese patient with Waardenburg syndrome type IV. Int J Pediatr Otorhinolaryngol. 2016;91:67-71 pubmed publisher
    ..The patient and his family members were subjected to mutation detection in the candidate gene SOX10 by Sanger sequencing...
  29. Ciarlo C, Kaufman C, Kinikoglu B, Michael J, Yang S, D Amato C, et al. A chemical screen in zebrafish embryonic cells establishes that Akt activation is required for neural crest development. elife. 2017;6: pubmed publisher
    ..ester (CAPE) disrupts neural crest gene expression, migration, and melanocytic differentiation by reducing Sox10 activity...
  30. Inoue K, Tanabe Y, Lupski J. Myelin deficiencies in both the central and the peripheral nervous systems associated with a SOX10 mutation. Ann Neurol. 1999;46:313-8 pubmed
    ..A novel mutation was identified in her SOX10 gene, which encodes a transcription factor preferentially expressed in the late embryonic glial cell lineage and ..
  31. Turnescu T, Arter J, Reiprich S, Tamm E, Waisman A, Wegner M. Sox8 and Sox10 jointly maintain myelin gene expression in oligodendrocytes. Glia. 2018;66:279-294 pubmed publisher
    ..induction of myelination and myelin maintenance both depend on the HMG-domain-containing transcription factor Sox10. In oligodendrocytes of the central nervous system, Sox10 is also essential for the induction of myelination...
  32. Li H, Jin P, Hao Q, Zhu W, Chen X, Wang P. Identification of a Novel De Novo Heterozygous Deletion in the SOX10 Gene in Waardenburg Syndrome Type II Using Next-Generation Sequencing. Genet Test Mol Biomarkers. 2017;21:681-685 pubmed publisher
    ..Targeted NGS detected the entire deletion of the coding sequence (CDS) of the SOX10 gene in the WSII patient...
  33. 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
  34. Rodriguez Molina J, Lopez Anido C, Ma K, Zhang C, Olson T, Muth K, et al. Dual specificity phosphatase 15 regulates Erk activation in Schwann cells. J Neurochem. 2017;140:368-382 pubmed publisher
    ..b>Sox10 is one common transcription factor required for several steps in development of myelinating glia...
  35. Issa S, Bondurand N, Faubert E, Poisson S, Lecerf L, Nitschke P, et al. EDNRB mutations cause Waardenburg syndrome type II in the heterozygous state. Hum Mutat. 2017;38:581-593 pubmed publisher
    ..associated to PAX3 mutations, WS type II (WS2) remains partly enigmatic with mutations in known genes (MITF, SOX10) accounting for only 30% of the cases...
  36. Zhang H, Chen H, Feng Y, Qian M, Li J, Liu J, et al. [Molecular pathogenesis of Waardenburg syndrome type II resulting from SOX10 gene mutation]. Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2016;33:466-70 pubmed publisher
    To explore the molecular mechanism of Waardenburg syndrome type II (WS2) resulting from SOX10 gene mutation E248fs through in vitro experiment...
  37. Rolig A, Mittge E, Ganz J, Troll J, Melancon E, Wiles T, et al. The enteric nervous system promotes intestinal health by constraining microbiota composition. PLoS Biol. 2017;15:e2000689 pubmed publisher
    ..We found that zebrafish lacking an ENS due to a mutation in the Hirschsprung disease gene, sox10, develop microbiota-dependent inflammation that is transmissible between hosts...
  38. 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
    ..Mutations of SOX10, EDN3/EDNRB have been identified in association with WS4...
  39. Wang C, Deneen B, Tzeng S. MicroRNA-212 inhibits oligodendrocytes during maturation by down-regulation of differentiation-associated gene expression. J Neurochem. 2017;143:112-125 pubmed publisher
    ..along with the up-regulation of the genes associated with OLG differentiation and maturation, including OLIG1, SOX10, myelin basic protein (MBP), and proteolipid protein 1 (PLP1)...
  40. Fernandez R, Núñez Ramos R, Enguix Riego M, Roman Rodriguez F, Galán Gómez E, Blesa Sánchez E, et al. Waardenburg syndrome type 4: report of two new cases caused by SOX10 mutations in Spain. Am J Med Genet A. 2014;164A:542-7 pubmed publisher
    ..Three disease-causing genes have been identified so far for WS4: EDNRB, EDN3, and SOX10. SOX10 mutations, found in 45-55% of WS4 patients, are inherited in autosomal dominant way...
  41. Chaoui A, Kavo A, Baral V, Watanabe Y, Lecerf L, Colley A, et al. Subnuclear re-localization of SOX10 and p54NRB correlates with a unique neurological phenotype associated with SOX10 missense mutations. Hum Mol Genet. 2015;24:4933-47 pubmed publisher
    b>SOX10 is a transcription factor with well-known functions in neural crest and oligodendrocyte development...
  42. Ferreira M, Dorboz I, Rodriguez D, Boespflug Tanguy O. Screening for GFAP rearrangements in a cohort of Alexander disease and undetermined leukoencephalopathy patients. Eur J Med Genet. 2015;58:466-70 pubmed publisher
    ..In addition, 80 patients with undetermined leukodystrophies, and negative for PLP1, GJA12, Sox10 and MCT8 mutations and PLP1 and Lamin B1 rearrangements, were tested...
  43. 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
    ..construct a spatiotemporal map of NCPC migration pathways into the developing lower urinary tract, we utilized the Sox10-H2BVenus transgene to visualize NCPCs expressing Sox10...
  44. Li Q, Tsuneki M, Krauthammer M, Couture R, Schwartz M, Madri J. Modulation of Sox10, HIF-1α, Survivin, and YAP by Minocycline in the Treatment of Neurodevelopmental Handicaps following Hypoxic Insult. Am J Pathol. 2015;185:2364-78 pubmed publisher
    ..Specifically, there was induction of genes, including Sox10, Hif1a, Hif2a, Birc5, Yap1, Epo, Bdnf, Notch1 (cleaved), Pcna, Mag, Mobp, Plp1, synapsin, Adgra2, Pecam1, and ..
  45. Leucci E, Vendramin R, Spinazzi M, Laurette P, Fiers M, Wouters J, et al. Melanoma addiction to the long non-coding RNA SAMMSON. Nature. 2016;531:518-22 pubmed publisher
    ..In addition, SAMMSON is a target of the lineage-specific transcription factor SOX10 and its expression is detectable in more than 90% of human melanomas...
  46. Souza D, Bellaver B, Terra S, Guma F, Souza D, Quincozes Santos A. In Vitro Adult Astrocytes are Derived From Mature Cells and Reproduce in Vivo Redox Profile. J Cell Biochem. 2017;118:3111-3118 pubmed publisher
    ..Therefore, we evaluated cytoskeleton proteins, such as glial fibrillary acidic protein and vimentin, as well as Sox10, an essential marker of immature glial cells, in ex vivo tissue and in in vitro astrocytes from the same animals (..
  47. Liu H, Kong M, Yao Q, Wang S, Shibata R, Yee H, et al. Expression of Sox10 and c-kit in sinonasal mucosal melanomas arising in the Chinese population. Head Neck Pathol. 2012;6:401-8 pubmed publisher
    ..The diagnosis and treatment of these tumors can be challenging. Recent studies have reported that Sox10 is a sensitive melanocytic marker for cutaneous melanoma (Nonaka et al. in Am J Surg Pathol 32:1291-1298, 2008)...
  48. Agaimy A, Specht K, Stoehr R, Lorey T, Märkl B, Niedobitek G, et al. Metastatic Malignant Melanoma With Complete Loss of Differentiation Markers (Undifferentiated/Dedifferentiated Melanoma): Analysis of 14 Patients Emphasizing Phenotypic Plasticity and the Value of Molecular Testing as Surrogate Diagnostic Marker. Am J Surg Pathol. 2016;40:181-91 pubmed publisher
    ..All cases were negative for S100, melanoma cocktail, HMB45, Melan A, and SOX10. Other markers showed following results: smooth muscle actin (1/14), p16 (1/14), TP53 (2/12), pancytokeratin (4/14)..
  49. Marsters C, Rosin J, Thornton H, Aslanpour S, Klenin N, Wilkinson G, et al. Oligodendrocyte development in the embryonic tuberal hypothalamus and the influence of Ascl1. Neural Dev. 2016;11:20 pubmed
    ..the onset of gliogenesis and expansion of glial populations in the tuberal hypothalamus using glial markers Sox9, Sox10, Olig2, PdgfR?, Aldh1L1, and MBP...
  50. 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
    b>Sox10 labeling by immunohistochemistry has been primarily reported in tumors of neural crest origin, such as nerve sheath tumors and melanoma...
  51. Sangkhathat S, Kusafuka T, Chengkriwate P, Patrapinyokul S, Sangthong B, Fukuzawa M. Mutations and polymorphisms of Hirschsprung disease candidate genes in Thai patients. J Hum Genet. 2006;51:1126-32 pubmed
    ..The GG/GG genotype construct was associated with RSD and with males. The study also detected a variant allele of RET S836S which has never been reported in Asian cohorts. ..
  52. Liu J, Lai F, Gui H, Sham M, Tam P, Garcia Barcelo M, et al. Identification of GLI Mutations in Patients With Hirschsprung Disease That Disrupt Enteric Nervous System Development in Mice. Gastroenterology. 2015;149:1837-1848.e5 pubmed publisher
    ..men, 4 women), and 20 individuals without (controls), and searched for mutation(s) in GLI1, GLI2, GLI3, SUFU, and SOX10. Biological effects of GLI mutations were tested in luciferase reporter assays using HeLa or neuroblastoma cell ..
  53. Yue C, Piao Y, Bai Y, Liu H, Zhang L. [CK7, CK20, SOX10 and CDX2: expressions and diagnostic values in primary adenocarcinoma of the sinonasal tract]. Zhonghua Yi Xue Za Zhi. 2015;95:2447-50 pubmed
    To explore the expressions of the cytokeratin 7 (CK7), cytokeratin 20 (CK20), SOX10 and cadual type homeobox transcription factor 2 (CDX2) in primary adenocarcinoma of the sinonasal tract, and evaluate their diagnostic values...
  54. Chen Y, Yang F, Zheng H, Zhou J, Zhu G, Hu P, et al. Clinical and genetic investigation of families with type II Waardenburg syndrome. Mol Med Rep. 2016;13:1983-8 pubmed publisher
    ..microphthalmia‑associated transcription factor (MITF), sex‑determining region Y‑box 10 (SOX10) and snail family zinc finger 2 (SNAI2) were analyzed by polymerase chain reaction and DNA sequencing...
  55. Chatterjee S, Kapoor A, Akiyama J, Auer D, Lee D, Gabriel S, et al. Enhancer Variants Synergistically Drive Dysfunction of a Gene Regulatory Network In Hirschsprung Disease. Cell. 2016;167:355-368.e10 pubmed publisher
    ..We previously identified an intronic enhancer variant in the RET gene disrupting SOX10 binding and increasing Hirschsprung disease (HSCR) risk 4-fold...
  56. Nazari B, Soleimani M, Ebrahimi Barough S, Enderami S, Kazemi M, Negahdari B, et al. Overexpression of miR-219 promotes differentiation of human induced pluripotent stem cells into pre-oligodendrocyte. J Chem Neuroanat. 2018;91:8-16 pubmed publisher
    ..cells showed that the expression of various oligodendrocyte stage-specific markers such as Nestin, Olig2, Sox10, PDGFRα, A2B5, O4, and MBP increased...
  57. Li Y, Kido T, Garcia Barcelo M, Tam P, Tabatabai Z, Lau Y. SRY interference of normal regulation of the RET gene suggests a potential role of the Y-chromosome gene in sexual dimorphism in Hirschsprung disease. Hum Mol Genet. 2015;24:685-97 pubmed publisher
    ..We show that the SRY-box 10 (SOX10) co-activator interacts and forms transcriptional complexes with PAX3 and NKX2-1 in a sequence-independent manner ..
  58. Kleinschmidt DeMasters B, Donson A, Richmond A, Pekmezci M, Tihan T, Foreman N. SOX10 Distinguishes Pilocytic and Pilomyxoid Astrocytomas From Ependymomas but Shows No Differences in Expression Level in Ependymomas From Infants Versus Older Children or Among Molecular Subgroups. J Neuropathol Exp Neurol. 2016;75:295-8 pubmed publisher
    b>SOX10 is important in nonneoplastic oligodendroglial development, but mRNA transcripts and protein expression are identified in a wider variety of CNS glial neoplasms than oligodendrogliomas...
  59. Chen W, Zhang J. Potential molecular characteristics in situ in response to repetitive UVB irradiation. Diagn Pathol. 2016;11:129 pubmed
    ..The up-regulated DEGs were significantly enriched in biological processes related to pigmentation (DCT, SOX10, TYRP1, TYR, MLPH, KIT and GPR143), while the down-regulated DEGs were dramatically related to haemopoiesis and ..
  60. Chen Y, Spitzer S, Agathou S, Karadottir R, Smith A. Gene Editing in Rat Embryonic Stem Cells to Produce In Vitro Models and In Vivo Reporters. Stem Cell Reports. 2017;9:1262-1274 pubmed publisher
    ..We then generated a non-disruptive knockin of dsRed at the Sox10 locus. Two clones produced germline chimeras...
  61. Liu J, Rao Y, Cheung M, Hui M, Wu M, Chan L, et al. Asymmetric localization of DLC1 defines avian trunk neural crest polarity for directional delamination and migration. Nat Commun. 2017;8:1185 pubmed publisher
    ..Moreover, NC specifiers, SOX9 and SOX10, regulate NEDD9 and DLC1 expression, respectively...
  62. Ueharu H, Yoshida S, Kanno N, Horiguchi K, Nishimura N, Kato T, et al. SOX10-positive cells emerge in the rat pituitary gland during late embryogenesis and start to express S100β. Cell Tissue Res. 2018;372:77-90 pubmed publisher
    ..Therefore, in this study, we investigate the origin of pituitary S100β-positive cells by immunohistochemistry for SOX10, a potent neural crest cell marker, using S100β-green fluorescence protein-transgenic rats. On embryonic day 21...
  63. McCoy C, Stadelman B, Brumaghim J, Liu J, Bain L. Arsenic and Its Methylated Metabolites Inhibit the Differentiation of Neural Plate Border Specifier Cells. Chem Res Toxicol. 2015;28:1409-21 pubmed publisher
    ..acid (MMA III) appeared to be just as potent as inorganic arsenic at reducing the mRNA levels Pax3 (79% vs84%), Sox10 (49% vs 65%), and Msx1 (56% vs 56%)...
  64. Fröb F, Bremer M, Finzsch M, Kichko T, Reeh P, Tamm E, et al. Establishment of myelinating Schwann cells and barrier integrity between central and peripheral nervous systems depend on Sox10. Glia. 2012;60:806-19 pubmed publisher
    The transcription factor Sox10 is expressed throughout Schwann cell development and has already been shown to be essential for specification and for the identity and further development of immature Schwann cells...
  65. Ng J, Celebre A, Munoz D, Keith J, Karamchandani J. Sox10 is superior to S100 in the diagnosis of meningioma. Appl Immunohistochem Mol Morphol. 2015;23:215-9 pubmed publisher
    ..Our study sought to determine if Sox10 would prove a more specific alternative to S100 in cases of meningioma when the differential diagnosis includes ..
  66. Lee K, Nam S, Cho E, Seong I, Limb J, Lee S, et al. Identification of direct regulatory targets of the transcription factor Sox10 based on function and conservation. BMC Genomics. 2008;9:408 pubmed publisher
    b>Sox10, a member of the Sry-related HMG-Box gene family, is a critical transcription factor for several important cell lineages, most notably the neural crest stem cells and the derivative peripheral glial cells and melanocytes...
  67. Gotoh L, Inoue K, Helman G, Mora S, Maski K, Soul J, et al. GJC2 promoter mutations causing Pelizaeus-Merzbacher-like disease. Mol Genet Metab. 2014;111:393-398 pubmed publisher
    ..A previously identified GJC2 mutation (c.-167A>G) in the promoter region is hypothesized to disrupt a putative SOX10 binding site; however, the lack of additional mutations in this region and contradictory functional data have ..
  68. Hao X, Xing Y, Moore M, Zhang J, Han D, Schulte B, et al. Sox10 expressing cells in the lateral wall of the aged mouse and human cochlea. PLoS ONE. 2014;9:e97389 pubmed publisher
    ..b>Sox10 is a transcription factor crucial to the development and maintenance of neural crest-derived cells including some ..
  69. Fujiwara N, Nakazawa Tanaka N, Miyahara K, Arikawa Hirasawa E, Akazawa C, Yamataka A. Altered expression of laminin alpha1 in aganglionic colon of endothelin receptor-B null mouse model of Hirschsprung's disease. Pediatr Surg Int. 2018;34:137-141 pubmed publisher
    ..Previously, we developed a Sox10 transgenic version of the Endothelin receptor-B (Ednrb) mouse to visualize Enteric neural crest-derived cell (ENCC)..
  70. Jalilian N, Tabatabaiefar M, Bahrami T, Karbasi G, Bahramian M, Salimpoor A, et al. A Novel Pathogenic Variant in the MITF Gene Segregating with a Unique Spectrum of Ocular Findings in an Extended Iranian Waardenburg Syndrome Kindred. Mol Syndromol. 2017;8:195-200 pubmed publisher
    ..Affected members of the family were studied for possible mutations within the SOX10, MITF, and SNAI2 genes...
  71. Morín M, Viñuela A, Rivera T, Villamar M, Moreno Pelayo M, Moreno F, et al. A de novo missense mutation in the gene encoding the SOX10 transcription factor in a Spanish sporadic case of Waardenburg syndrome type IV. Am J Med Genet A. 2008;146A:1032-7 pubmed publisher
  72. Baxter L, Moreland R, Nguyen A, Wolfsberg T, Pavan W. A curated online resource for SOX10 and pigment cell molecular genetic pathways. Database (Oxford). 2010;2010:baq025 pubmed publisher
    ..Initially, this database focuses on the transcription factor SOX10, which has essential roles in pigment cell development and function, but the database has been designed with the ..
  73. Jennings C, Kim J. Identification of nodal metastases in melanoma using sox-10. Am J Dermatopathol. 2011;33:474-82 pubmed publisher
  74. Shin J, Vincent J, Cuda J, Xu H, Kang S, Kim J, et al. Sox10 is expressed in primary melanocytic neoplasms of various histologies but not in fibrohistiocytic proliferations and histiocytoses. J Am Acad Dermatol. 2012;67:717-26 pubmed publisher
    b>Sox10 is a transcription factor associated with neural crest development. Its expression has been reported in melanocytes and peripheral nerve sheath cells and their associated tumors...
  75. Ohtomo R, Mori T, Shibata S, Tsuta K, Maeshima A, Akazawa C, et al. SOX10 is a novel marker of acinus and intercalated duct differentiation in salivary gland tumors: a clue to the histogenesis for tumor diagnosis. Mod Pathol. 2013;26:1041-50 pubmed publisher
    ..SRY-related HMG-box 10 (SOX10) protein is a transcription factor known to be crucial in the specification of the neural crest and maintenance of ..
  76. Marathe H, Watkins Chow D, Weider M, Hoffmann A, Mehta G, Trivedi A, et al. BRG1 interacts with SOX10 to establish the melanocyte lineage and to promote differentiation. Nucleic Acids Res. 2017;45:6442-6458 pubmed publisher
    Mutations in SOX10 cause neurocristopathies which display varying degrees of hypopigmentation...
  77. 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
    Previous genetic lineage tracing studies showed that Sox10+ cells differentiate into vascular mural cells, limited to neural crest-derived blood vessels in craniofacial tissues, aortic arch, pulmonary arch arteries, ..
  78. Southard Smith E, Angrist M, Ellison J, Agarwala R, Baxevanis A, Chakravarti A, et al. The Sox10(Dom) mouse: modeling the genetic variation of Waardenburg-Shah (WS4) syndrome. Genome Res. 1999;9:215-25 pubmed
    ..b>Sox10(Dom)/+ mice exhibit variability of aganglionosis and hypopigmentation influenced by genetic background similar to ..
  79. Wenzhi H, Ruijin W, Jieliang L, Xiaoyan M, Haibo L, Xiaoman W, et al. Heterozygous deletion at the SOX10 gene locus in two patients from a Chinese family with Waardenburg syndrome type II. Int J Pediatr Otorhinolaryngol. 2015;79:1718-21 pubmed publisher
    ..To date, almost 100 mutations have been reported, but few reports on cases with SOX10 gene deletion. The inheritance pattern of SOX10 gene deletion is still unclear...
  80. Lopez Anido C, Poitelon Y, Gopinath C, Moran J, Ma K, Law W, et al. Tead1 regulates the expression of Peripheral Myelin Protein 22 during Schwann cell development. Hum Mol Genet. 2016;25:3055-3069 pubmed
    ..Mechanistic studies of Pmp22 regulation identified enhancers regulated by the Sox10 (SRY sex determining region Y-box 10) and Egr2/Krox20 (Early growth response protein 2) transcription factors in ..
  81. Murko C, Bronner M. Tissue specific regulation of the chick Sox10E1 enhancer by different Sox family members. Dev Biol. 2017;422:47-57 pubmed publisher
    The transcription factor Sox10 is a key regulator of vertebrate neural crest development and serves crucial functions in the differentiation of multiple neural crest lineages...
  82. Trabelsi M, Nouira M, Maazoul F, Kraoua L, Meddeb R, Ouertani I, et al. Novel PAX3 mutations causing Waardenburg syndrome type 1 in Tunisian patients. Int J Pediatr Otorhinolaryngol. 2017;103:14-19 pubmed publisher
    ..WS is classified into four types depending on the presence or absence of additional symptoms: WS1, WS2, WS3 and WS4. Type 1 and 3 are mostly caused by PAX3 mutations, while type 2 and type 4 are genetically heterogeneous...
  83. Sznajer Y, Coldea C, Meire F, Delpierre I, Sekhara T, Touraine R. A de novo SOX10 mutation causing severe type 4 Waardenburg syndrome without Hirschsprung disease. Am J Med Genet A. 2008;146A:1038-41 pubmed publisher
    ..Autosomal dominant mode of inheritance is prevalent when Sox10 gene mutation is identified...
  84. Pan Z, Lou J, Luo C, Yu L, Li J. Association analysis of the SOX10 polymorphism with Hirschsprung disease in the Han Chinese population. J Pediatr Surg. 2011;46:1930-4 pubmed publisher
    ..b>SOX10 gene is involved in the normal development of the enteric nervous system...
  85. Küspert M, Weider M, Müller J, Hermans Borgmeyer I, Meijer D, Wegner M. Desert hedgehog links transcription factor Sox10 to perineurial development. J Neurosci. 2012;32:5472-80 pubmed publisher
    ..They develop along nerves during embryogenesis and rely on the HMG domain containing Sox10 transcription factor for specification, lineage progression, and terminal differentiation...
  86. Motohashi T, Nishioka M, Kitagawa D, Kawamura N, Watanabe N, Wakaoka T, et al. Galectin-1 enhances the generation of neural crest cells. Int J Dev Biol. 2017;61:407-413 pubmed publisher
    ..We previously analyzed the gene expression profile of a NC subpopulation isolated from Sox10-IRES-Venus mice and found that the carbohydrate-binding protein, Galectin-1 (Gal-1) was strongly expressed in ..
  87. 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
    ..In addition to preventing p53-independent apoptosis and promoting the migration of Sox10-expressing neural crests, Shp2 is also required for expression of the homeodomain transcription factor Alx4, which ..
  88. Han S, Ren Y, He W, Liu H, Zhi Z, Zhu X, et al. ERK-mediated phosphorylation regulates SOX10 sumoylation and targets expression in mutant BRAF melanoma. Nat Commun. 2018;9:28 pubmed publisher
    ..However, the mechanism underlying ERK signaling control of FOXD3 expression remains unknown. Here we show that SOX10 is both necessary and sufficient for RAF inhibitor-induced expression of FOXD3 in mutant BRAF melanoma cells...
  89. 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
    ..This reprogramming begins with a loss of SOX10-mediated differentiation followed by activation of new signalling pathways, partially mediated by the activity of ..
  90. Andreasen S, Skalova A, Agaimy A, Bishop J, Laco J, Leivo I, et al. ETV6 Gene Rearrangements Characterize a Morphologically Distinct Subset of Sinonasal Low-grade Non-intestinal-type Adenocarcinoma: A Novel Translocation-associated Carcinoma Restricted to the Sinonasal Tract. Am J Surg Pathol. 2017;41:1552-1560 pubmed publisher
    ..Immunohistochemically, CK7, DOG1, GCDFP-15, and SOX10 were positive in all cases, and vimentin was positive in 2 cases...
  91. Prasad A, Teh D, Blasiak A, Chai C, Wu Y, Gharibani P, et al. Static Magnetic Field Stimulation Enhances Oligodendrocyte Differentiation and Secretion of Neurotrophic Factors. Sci Rep. 2017;7:6743 pubmed publisher
    ..The differential gene expression of cell activity marker (c-fos), early OPC (Olig1, Olig2. Sox10), and mature oligodendrocyte markers (CNP, MBP) were quantified...