Mutated in human diseases

Articles

• SMARCA4
  11 August 2004

  BRG1; "SNF2-like 4", "global transcription activator homologous sequence", "sucrose nonfermenting-like 4", "mitotic growth and transcription activator", "BRM/SWI2-related gene 1", "homeotic gene regulator", "nuclear protein GRB1", "brahma protein-like 1", "ATP-dependent helicase SMARCA4"; SNF2L4
  Definition: The protein encoded by SMARCA4 is a member of the SWI/SNF family of proteins and is similar to the brahma protein of Drosophila.
  Members of this family have helicase and ATPase (...)

• GATA3
  24 May 2005

  GATA-3
  PO
  Definition: GATA3 is a zinc-finger transcription factor (ZFNs), which is expressed in various normal and neoplastic tissues.
  GATA3 is a transcription factor important in the differentiation of breast epithelia, urothelia, and subsets of T-lymphocytes.
  It has been suggested useful in the evaluation of mammary or urothelial origin or metastatic carcinomas. GATA3 is a useful marker in characterization not only mammary carcinomas and urothelial carcinoma but also for renal tumors (...)

• TP53
  30 September 2003

  P53, p53
  Definition: p53 is a nuclear phospho-protein which, in response to DNA damage, slows progression through the cell cycle and initiates apoptosis if damage is severe. The tumor suppressor gene TP53 is altered in the majority of cancers.
  p53 is required for the G1/S checkpoint and is a main component of the G2/M checkpoint. The p53 protein causes cell-cycle arrest and apoptosis. It acts mainly through p21 to cause cell-cycle arrest.
  It causes apoptosis by inducing the transcription (...)

• ERCC1
  5 March 2006

  RAD10

• TFAP2A
  25 April 2008

  AP2-alpha

• TBX20
  30 October 2007

  The T-box family transcription factor gene TBX20 acts in a conserved regulatory network, guiding heart formation and patterning in diverse species. TBX20 interacts physically, functionally, and genetically with other cardiac transcription factors, including NKX2-5, GATA4, and TBX5, mutations of which cause congenital heart disease (CHD).
  Animal modes
  Mouse Tbx20 is expressed in cardiac progenitor cells, differentiating cardiomyocytes, and developing valvular tissue, and its deletion or (...)

• CACNA1S
  6 September 2005

  Pathology
  germline mutations in hypokalemic periodic paralysis (MIM.170400) malignant hyperthermia susceptibility locus MHS5 (MIM.601887) thyrotoxic periodic paralysis (MIM.188580)

• TNFRSF6
  27 January 2005

  CD95, surface abtigen APO1, APT1, FAS

• DCTN1
  22 January 2006

  dynactin-1, homolog of drosophila p150 (GLUED)

• FOXP2
  25 September 2003

  Definition: FOXP2 is a member of the FOXPs protein family.
  Pathology
  germline mutations in FOXP2 cause developmental verbal dyspraxia (DVD).
  FOXP2 (forkhead box P2) was the first gene characterized in which a mutation affects human speech and language abilities. Locus: 7q31
  Differential parent-of-origin expression of FOXP2 in human speech development.
  specific language impairment (#12721956#, #15877281#)
  FOXP2 is the first gene to have been implicated in a developmental (...)

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