Malformation genes

Articles

• ERCC1
  5 March 2006

  RAD10

• FGFR3
  29 June 2004

  Pathology
  constitutional activating mutations in
  several autosomal dominant craniosynostosis syndromes
  Crouzon craniosynostosis with acanthosis nigricans
  Muenke syndrome (coronal craniosynostosis)
  Saethre-Chotzen syndrome
  Beare-Stevenson syndrome
  chondrodysplasias
  hypochondroplasia (MIM.146000)
  achondroplasia (MIM.100800)
  SADDAN dysplasia
  skeletal dysplasia with acanthosis nigricans
  thanatophoric dysplasia
  thanatophoric dysplasia type 1 (MIM.187600)
  thanatophoric (...)

• EOMES
  9 May 2008

  TBR2

• TFAP2A
  25 April 2008

  AP2-alpha

• 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 (...)

• 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 (...)

• TGIF1
  23 June 2008

  TGIF

• FOXL2
  18 June 2008

  Definition: FOXL2 encodes a forkhead transcription factor. The protein FOXL2 contains a fork-head DNA-binding domain and may play a role in ovarian development and function.
  Mutations in FOXL2 are a cause of blepharophimosis syndrome (BPES) and premature ovarian failure type 3 (MIM.608996).
  Functions
  FOXL2 represses the transcription of aromatase, cholesterol side-chain cleavage enzyme P450scc and cyclin D2 in granulosa cells.
  FoxL2 plays a key role in activin induction of the FSHbeta (...)

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