Malformation genes

Articles

• SIX3
  13 May 2005

  Pathology
  germline mutations of SIX3 in holoprosencephaly 2 (HPE2) (MIM.157170) microphtalmia iris coloboma
  See also
  SIXs

• ERCC1
  5 March 2006

  RAD10

• TFAP2A
  25 April 2008

  AP2-alpha

• WT1
  28 August 2003

  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.
  Development
  splenic organogenesis (...)

• MNX1
  8 December 2004

  HLXB9; HB9, HOXHB9, SCRA1; "homeo box HB9", "homeobox HB9"; motor neuron and pancreas homeobox 1

• 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 (...)

• TWIST1
  3 April 2005

  twist-1, twist1, TWST, TWIST

• CFC1
  24 July 2007

  Genes of the EGFs-CFCs family encode extracellular proteins that play key roles in intercellular signaling pathways during vertebrate embryogenesis.
  Pathology
  germline mutations in autosomal visceral heterotaxy (sporadic left-right anomalies) (MIM.605376) sporadic double-outlet right ventricle (DORV) (MIM.217095) dextro-looped transposition of the great arteries (MIM.608808) associated with intact interventricular septum
  See also
  CRIPTO (TDGF1) (MIM.187395)
  nodal signalling
  axial (...)

• SIX2
  18 April 2008

  The vertebrate SIXs genes are homologs of the Drosophila ’sine oculis’ (so) gene, which encodes a nuclear homeoprotein required for eye development.
  References
  Weber S, Taylor JC, Winyard P, Baker KF, Sullivan-Brown J, Schild R, Knüppel T, Zurowska AM, Caldas-Alfonso A, Litwin M, Emre S, Ghiggeri GM, Bakkaloglu A, Mehls O, Antignac C; Escape Network, Schaefer F, Burdine RD. SIX2 and BMP4 Mutations Associate With Anomalous Kidney Development. J Am Soc Nephrol. 2008 Feb 27; PMID: #18305125# (...)

• 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
  TP63 gene encodes a member of the p53 family of transcription factors: p63. Both alternative splicing and the use of alternative promoters results in (...)

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