Protein

Articles

• CD10
  28 June 2004

  MME, calla, membrane metalloendopeptidase, neprilysin; Common Acute Lymphoblastic Leukemia Antigen (CALLA), neutral endopeptidase 24.11, neprilysin, enkephalinase WKP PathologyOutlines HGNC PO
  See also: MME
  Definition: Cell membrane metallopeptidase expressed by early B, pro-B and pre-B lymphocytes, and by lymph node germinal centers.
  CD10 is widely distributed in normal tissue, including brush border of small bowel mucosa.
  CD10 is also expressed in neoplasms (epithelial cells and (...)

• APP
  26 November 2003

  amyloid beta A4 precursor protein

• SOX10
  9 June 2003

  Location: 22q13. SRY-BOX 10, SRY-RELATED HMG-BOX GENE 10; SRY-related HMG-box 10 (SOX10) protein PO
  Definition: SOX10 is a transcription factor known to be crucial in the specification of the neural crest and maintenance of Schwann cells and melanocytes. It is expressed in nuclei of melanocytes and breast myoepithelial cells .
  Images
  SOX10 in melanoma https://twitter.com/LisaRooperMD/status/968862378799632385
  SOX-10 NEGATIVE in basal cell carcinoma / BCC. The few positive cells (...)

• ALK
  19 June 2003

  Locus: 2p23. AGCOH OMIM
  Cytogenetics
  t(2;17)(p23;q23)
  Pathology
  ALK rearrangements - ALK fusion
  Chromosomal rearrangements involving the anaplastic lymphoma kinase gene (ALK) at 2p23 result in fusion with various partner genes leading to aberrant production of oncogenic protein products in multiple tumor types.
  In tumorigenesis, the ALK gene at 2p23 is known to be fused to NPM, TPM3, TPM4, TFG, ATIC, CLTC, MSN, and ALO17.
  ALK-ATIC by inv(2)(p23q35) in IMF (#12939746#) (...)

• FHIT
  5 March 2006

  Pathology
  The constitutional translocation t(3;8)(p14.2;q24.1) fuses FHIT at 3p14 with the patched-related gene TRC8 at 8q24.1 (#9689122#) with formation of the TRC8/FHIT fusion gene). It predisposes to
  hereditary renal clear cell carcinoma (#17539022#)
  hereditary renal clear cell carcinoma and non-medullary thyroid cancer (#470981#, #12522559#, #17539022#)
  TRC8 hereditary kidney cancer gene suppresses growth and functions with VHL in a common pathway (#12032852#)
  References (...)

• SOD1
  23 September 2003

  cytosolic Cu/Zn superoxide dismutase

• KIT
  12 December 2003

  c-kit; CD117
  Definition: The proto-oncogene c-kit / CC117 is a receptor tyrosine kinase recognized to initiate essential signal transduction pathways that transmit biological signals for cellular proliferation, differentiation, and metastasis. Aberrant expression or mutation of c-kit has been shown to be involved in the pathogenesis of many cancers. See also CD117 IHCDB
  Expression in cells
  c-KIT positive spermatogonia
  Expression in tumors (Exemples)
  chromophobe renal cell (...)

• KRT9
  6 July 2004

  Pathology
  germline mutations in epidermolytic palmoplantar keratoderma (MIM.144200) autosomal dominant epidermolytic palmoplantar keratoderma associated with knuckle pads (MIM.144200)

• CAMTA1
  1 June 2007

  Definition: CAMTA1 (calmodulin-binding transcription activator 1) gene spans a minimal region of 1p36 loss in gliomas with oligodendrial differentiation but is not subject to somatic mutations. CAMTA1 expression is cell cycle dependent, being higher in the S and M phases. CAMTA1 is a putative 1p36 cancer gene.
  Pathology
  A WWTR1-CAMTA1 gene fusion is a consistent abnormality in epithelioid hemangioendothelioma of different anatomic sites. (#21584898#)
  Epithelioid hemangioendothelioma (...)

• PDGFRA
  12 December 2003

  platelet-derived growth factor receptor (PDGFR) alpha, PDGFR-alpha

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