SOX10


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SOX10

Notation for a gene for Waardenburg type 4 syndrome.

SOX10

A gene on chromosome 22q13.1 that encodes a member of the SOX (SRY-related HMG-box) family of transcription factors, which regulate embryonic development and determine cell fate. SOX10 may act as a transcription activator after forming a complex with other proteins; it acts as a nucleocytoplasmic shuttle protein and is important for neural crest and peripheral nervous system development.

Molecular pathology
SOX10 mutations cause Waardenburg-Shah and Waardenburg-Hirschsprung disease.
References in periodicals archive ?
Several other studies (53-55) that investigated the staining pattern of SOX10 in melanocytic lesions showed 95% to 100% staining in conventional malignant melanomas, 100% staining in spindle cell melanomas and desmoplastic melanomas, and 97% to 100% staining in metastatic melanomas.
It seems imperative that a spindle cell lesion with SOX10 positivity be further worked up with melanocytic markers, like HMB-45 and Melan-A, to include or exclude melanocytic lesion.
Co-expression of SOX9 and SOX10 during melanocytic differentiation in vitro.
Female BALB/c (6 to about 8 weeks old) mice were immunized intraperitoneally with 100 [micro]g of human SOX10 recombinant protein per mouse in complete Freund adjuvant.
Hybridomas producing antibodies to SOX10 were generated by standard techniques from splenocytes of SOX10-immunized BALB/c mice.
133) SOX10 is such a nuclear marker, with the same or better sensitivity as S100, and it does not stain additional distracting cells, such as Langerhans cells of the epidermis.
135,136) SOX10 does not appear to be immune to the "pseudonest" phenomenon, with one reported case1 (37) of SOX10 junctional nests in the setting of erythema dyschromicum perstans.
SOX10 expression in adenoid cystic carcinoma (original magnification X400).
2 +, inner layer - - or + + + SOX10 + - + ND + OC/OCA p63 +, basal Calponin/SMA/SMMHC - CK7/CAM 5.
Metastatic malignant melanoma with epithelioid cytomorphology (A) shows diffuse nuclear expression of SOX10 (B) (hematoxylineosin, original magnification X400 [A]; original magnification X400 [B]).
Abbreviations: CDK4, cyclindependent kinase 4; CK, cytokeratin; HMB-45, human melanoma black 45; Mart-1, melanoma-associated antigen recognized by Tcells 1; MDM2, mouse double minute 2 homolog; MiTF, microphthalmia-associated transcription factor; MPNST, malignant peripheral nerve sheath tumor; SOX10, sex-determining region Y box 10; TLE1, transducin-like enhancer of split 1.
Note that the tumor cells are positive for SOX10 (B), mart-1 (C), and MiTF (D).