Malformation genes

Articles

• cardiac malformations
  13 April 2004

  heart malformations, congenital heart defects, congenital cardiopathies, congenital heart diseases

• TBX15
  4 May 2009

  T-box genes (TBXs) encode a phylogenetically conserved family of transcription factors that regulate a variety of developmental processes. All contain a common DNA-binding domain, the T box.
  Pathology
  germline mutations in Cousin syndrome (MIM.260660)

• TP63
  4 November 2008

  p63 PO
  Definition: p63 is a nuclear protein encoded by a gene on chromosome 3q27-29 with homology to p53 (a tumour suppressor gene). It has been shown to regulate growth and development in epithelium of the skin, cervix, breast and urogenital tract.
  Images
  p63 in Warthin tumor https://twitter.com/chioseasi/status/872838132428718081
  p63 loss of expression in breast DCIS https://twitter.com/Neuygn/status/893110163300921345
  p63 in adenoid cystic carcinoma of the (...)

• TWIST1
  3 April 2005

  twist-1, twist1, TWST, TWIST

• ZIC2
  9 February 2005

  Pathology
  germline mutations of ZIC2 in sporadic holoprosencephaly type 5 (polyalanine repeat expansion)
  See also
  polyalanine repeat expansions

• GLI2
  17 February 2005

  GLI2 encodes a protein which belongs to the C2H2-type zinc finger protein subclass of the Gli family (GLIs).
  Members of the GLIs subclass are characterized as transcription factors which bind DNA through zinc finger motifs. These motifs contain conserved H-C links.
  Gli family zinc finger proteins (GLIs) are mediators of Sonic hedgehog (Shh) signaling and they are implicated as potent oncogenes in the embryonal carcinoma cell.
  The protein Gli2 encoded by this gene localizes to the (...)

• FLNA
  22 March 2005

  filamin-1

• WT1
  28 August 2003

  PO
  Definition : The WT1 gene encodes a zinc finger DNA-binding protein that acts as a transcriptional activator or repressor depending on the cellular or chromosomal context. WT1 is required for normal formation of the genitourinary system and mesothelial tissues.
  The WT1 protein is a transcriptional activator of genes involved in renal and gonadal differentiation. It regulates the mesenchymal to epithelial transition that occurs in kidney development.
  Role in development
  splenic (...)

• HOXD13
  29 September 2003

  MIM.142989
  HOXD13, the homeobox-containing gene located at the most 5’ end of the HOXD cluster, plays a critical role in limb development. It has been shown that mutations in human HOXD13 can give rise to limb malformations, with variable expressivity and a wide spectrum of clinical manifestations.
  Polyalanine expansions in HOXD13 cause synpolydactyly, whereas amino acid substitutions in the homeodomain are associated with brachydactyly types D and E.
  Pathology
  fused in the HOXD13-NUP98 (...)

• BMP4
  3 July 2008

  BMP4 is a vital regulatory molecule that functions throughout development in mesoderm induction, tooth development, limb formation, bone induction, and fracture repair.
  BMP4 is a member the transforming growth factor-beta (TGFBs) superfamily, encomprising at least 12 members, including TGFB1 (MIM.190180), TGFB2 (MIM.190220), TGFB3 (MIM.190230), Mullerian inhibitory substance (MIF) (MIM.600957), the bone morphogenetic protein-2A (BMP2A), bone morphogenetic protein-2B (BMP2B) (MIM.112262), (...)

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