Protein

Articles

• DSG3
  14 July 2003

  desmoglein-3

• SOD1
  23 September 2003

  cytosolic Cu/Zn superoxide dismutase

• SPG7
  27 January 2006

  parapplegin

• INA
  19 May 2010

  NEF5; NF-66; TXBP-1; FLJ18662; FLJ57501; MGC12702; INA

• FGFR2
  22 November 2003

  Regulation
  Fibroblast growth factor receptor (FGFR)2 is regulated on the basis of the balance of FGFs, heparan-sulfate proteoglycans, FGFR2 isoforms, endogenous inhibitors, and microRNAs.
  FGFR2 signals cross-talk with hedgehog (SHH), bone morphogenetic protein (BMPs), and other regulatory networks.
  Pathology
  Some cases of congenital skeletal disorders with an FGFR2 mutation show skin phenotypes, including acne, cutis gyrata, and acanthosis nigricans.
  Gain-of-function mutations or (...)

• COL1A1
  21 May 2004

  Definition: COL1A1 (MIM.120150) is also called collagen of skin, tendon and bone COL1A1 (MIM.120150).
  Pathology
  germline COL1A1 mutations in :
  osteogenesis imperfecta type 1 (OI1)
  osteogenesis imperfecta type 2 (OI2s)
  osteogenesis imperfecta type 2A (OI2A)
  osteogenesis imperfecta type 2C (OI2C)
  osteogenesis imperfecta type 2 thin-bone subtype
  osteogenesis imperfecta type 3 (OI3)
  osteogenesis imperfecta type 4 (O4)
  bined osteogenesis imperfecta (MIM.166200) and (...)

• TMSB4
  9 January 2006

  thymosin-beta4

• CRELD1
  29 September 2003

  CRELD1 codes for a cell adhesion molecule previously known as "cirrin". Locus AVSD2 (3p25). CRELD1 is the founding member of a family of matricellular proteins.
  EGF domains
  Epidermal growth factor-like repeats are a class of cysteine-rich domains that mediate interactions between proteins of diverse function. EGF domains are found in proteins that are either completely secreted or have transmembrane regions that tether the protein to the cell surface.
  Pathology
  missense mutations in (...)

• NSDHL
  6 March 2010

  NAD(P) dependent steroid dehydrogenase-like; XAP104, H105e3, SDR31E1; short chain dehydrogenase/reductase family 31E, member 1

• smooth muscle actin
  31 October 2004

  SMA; Actin (Smooth Muscle) IHCDB
  Definition: An anti-SMA antibody labels smooth muscle cells, myofibroblasts and myoepithelial cells, and is useful for the identification of leiomyomas, leiomyosarcomas, and pleomorphic adenomas.
  It is expressed by :
  myofibroblastic tumors
  smooth muscle tumors as leiomyomas and leiomyosarcomas
  some skeletal muscle tumors as some rhabdomyosarcomas
  See also
  actin microfilaments
  immunohistochemical (...)

0 | 10 | 20 | 30 | 40 | 50 | 60 | 70 | 80 | ... | 1590