• Thumbnail for SOX10
    Transcription factor SOX-10 is a protein that in humans is encoded by the SOX10 gene. This gene encodes a member of the SOX (SRY-related HMG-box) family...
    16 KB (1,872 words) - 22:20, 4 February 2024
  • Thumbnail for Waardenburg syndrome
    in SOX10 (the same gene as in type 2E), in which it is known as type 4C; hearing loss is very common and severe in this type. A mutation in SOX10, the...
    49 KB (5,792 words) - 18:24, 7 November 2024
  • Thumbnail for Schwann cell
    Schwann cell (section Sox10)
    In the absence of SOX10, neural crest cells survive and are free to generate neurons, but glial specification is blocked. SOX10 might influence early...
    19 KB (2,450 words) - 00:59, 1 November 2024
  • Thumbnail for Sex-determining region Y protein
    movement and coordination. Research in mice has shown that a mutation in SOX10, an SRY encoded transcription factor, is linked to the condition of Dominant...
    39 KB (4,859 words) - 19:32, 22 August 2024
  • Thumbnail for Radical surgery
    Immunohistochemistry with SOX10 (staining the cell nuclei of melanocytes) of lentigo maligna, showing malignant melanocytes all the way to the resection...
    2 KB (173 words) - 00:19, 5 March 2024
  • Thumbnail for Melanoma
    diagnosing uncertain cases Metastatic melanoma on immunohistochemistry for SOX10, another helpful stain in uncertain cases One method is the "ugly duckling...
    156 KB (16,293 words) - 07:41, 21 November 2024
  • Thumbnail for Neural crest
    border specifiers is a collection of genes including Slug/Snail, FoxD3, Sox10, Sox9, AP-2 and c-Myc. This suite of genes, designated here as neural crest...
    41 KB (4,610 words) - 23:01, 30 October 2024
  • Thumbnail for Hirschsprung's disease
    HSCR7 606875 ? 19q12 HSCR8 608462 ? 16q23 HSCR9 611644 ? 4q31-32 — 602229 SOX10 22q13 — 600423 ECE1 1p36.1 — 602018 NRTN 19p13.3 — 602595 GEMIN2 (Gem-associated...
    36 KB (3,854 words) - 02:23, 19 October 2024
  • KAL1, fibroblast growth factor (FGF8), sex determining region Y-Box 10 (SOX10), GNRHR, GNRH1 and KISS1R. Kallmann syndrome results in a loss of smell...
    18 KB (2,247 words) - 02:53, 13 November 2024
  • Thumbnail for Lentigo maligna
    characteristic atypical epidermal melanocytes. H&E stain. Immunohistochemistry with SOX10 (staining the cell nuclei of melanocytes) facilitates diagnosis of lentigo...
    11 KB (1,307 words) - 06:51, 15 April 2024
  • condition caused by a mutation on the SRY-related HMG-box gene 10 (not SOX10). It was characterized in 1990, after being seen in two siblings from Yemen...
    4 KB (263 words) - 06:20, 5 January 2021
  • Thumbnail for RAB7A
    has shown that SOX10 (a neuroectodermal master modulator) and MYC (an oncogene) are the major regulators. Rab7a is regulated by SOX10 and MYC respectively...
    18 KB (2,315 words) - 05:30, 27 May 2024
  • Thumbnail for Chromosome 22
    homolog SEPT3: encoding protein neuronal-specific septin-3 SEPT5 SHFM3P1: SOX10 SYNGR1: encoding protein synaptogyrin-1 TBC1D10A: encoding protein TBC1...
    27 KB (2,209 words) - 17:18, 18 August 2024
  • Known motif – from protein with 100% identical DBD – in vitro [841] WBAAW SOX10 ENSG00000100146 HMG/Sox Known motif – High-throughput in vitro [842] DAACAWWGVV...
    374 KB (81 words) - 02:10, 23 September 2023
  • 1:10,000 Waardenburg syndrome PAX3, MITF, WS2B, WS2C, SNAI2, EDNRB, EDN3, SOX10 dominant 1:42,000 Warkany syndrome 2 8 trisomy Weissenbacher–Zweymüller...
    43 KB (995 words) - 08:29, 11 November 2024
  • Thumbnail for Pitt–Hopkins syndrome
    MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome 4...
    18 KB (1,866 words) - 00:27, 18 November 2024
  • Thumbnail for Chromatophore
    using mutant fish have demonstrated that transcription factors such as kit, sox10, and mitf are important in controlling chromatophore differentiation. If...
    40 KB (4,529 words) - 00:52, 2 October 2024
  • Thumbnail for Campomelic dysplasia
    MODY 3 MODY 5 SF1 SRY XY gonadal dysgenesis Premature ovarian failure 7 SOX10 Waardenburg syndrome 4c Yemenite deaf-blind hypopigmentation syndrome 4...
    8 KB (1,003 words) - 00:05, 2 September 2024
  • Thumbnail for Biphenotypic sinonasal sarcoma
    about 50% of cases. No reactivity occurs with other tumor markers such as SOX10, myogenin, estrogen receptor, progesterone receptor, or keratins. Genetic...
    7 KB (776 words) - 05:24, 3 September 2024
  • Thumbnail for 22q13 deletion syndrome
    DDX17 KDELR3 KCNJ4 CSNK1E TMEM184B MAFF MAFF PLA2G6 BAIAP2L2 SLC16A8 PICK1 SOX10 POLR2F C22orf23 MICALL1 EIF3L ANKRD54 GALR3 GCAT H1F0 TRIOBP NOL12 LGALS1...
    44 KB (4,022 words) - 11:23, 24 August 2024
  • Thumbnail for Peripheral myelin protein 22
    signaling pathways and dysfunction of transcriptional factors like KNOX20, SOX10 and EGR2. PMP22 has been found to interact with several different factors...
    12 KB (1,472 words) - 20:31, 4 August 2024
  • Thumbnail for Waardenburg syndrome type 2D
    microphthalmia associated transcription factor (also known as MITF) as well as SOX10 genes. Type 2D is distinguished from other types through the absence of...
    8 KB (985 words) - 17:58, 7 November 2024
  • in pemphigus List of verrucous carcinoma subtypes Nat Pernick. "Stains - SOX10". Pathology Outlines. Topic Completed: 1 February 2014. Revised: 20 September...
    11 KB (254 words) - 08:48, 14 October 2024
  • Thumbnail for FAM227a
    suggests the location of FAM227A may be linked to a central regulator, SOX10, which is involved in the maturation of neural crest derivatives. Gene deletion...
    10 KB (1,085 words) - 08:00, 27 March 2022
  • Thumbnail for PAX3
    (TAATCAATTA). Interaction of PAX3 with other transcription factors (such as SOX10) or chromatin factors (such as PAX3/7BP) enables synergistic activation...
    35 KB (4,308 words) - 10:17, 11 August 2024
  • consisted majorly of "mutations in the ENDRB or END3 gene", along "with [some] SOX10 mutations". Therefore, the researchers confirmed that ABCD syndrome was...
    13 KB (1,725 words) - 14:35, 26 May 2024
  • Thumbnail for WNT8A
    expression of various other genes important for neural crest induction (pax3, sox10, and foxd3). It is unclear however, if the loss of these neural crest specifiers...
    3 KB (399 words) - 09:05, 29 January 2023
  • SOX21 SoxC: SOX4, SOX11, SOX12 SoxD: SOX5, SOX6, SOX13 SoxE: SOX8, SOX9, SOX10 SoxF: SOX7, SOX17, SOX18 SoxG: SOX15 SoxH: SOX30 Body plan Evolutionary...
    6 KB (715 words) - 06:15, 3 June 2024
  • from neural crest cells to Schwann cell precursors is characterized by Sox10 and generally occurs around embryonic day 12-13 in rats. Schwann cell precursors...
    16 KB (2,255 words) - 01:58, 20 July 2023
  • Thumbnail for Genetics of GnRH deficiency conditions
    IL17RD 3p14.3 Congenital hearing loss. Autosomal recessive 2, 2-5 611584 SOX10 SOX10 22q13.1 Congenital hearing loss. Waardenburg syndrome Autosomal dominant...
    12 KB (612 words) - 10:54, 4 January 2024