Malformation genes

Articles

• FLNA
  22 March 2005

  filamin-1

• 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 (...)

• MYCN
  18 April 2005

  NMYC, N-MYC

• TWIST1
  3 April 2005

  twist-1, twist1, TWST, TWIST

• GATA4
  14 April 2004

  The GATA-binding proteins (GATAs) are a group of structurally related transcription factors that control gene expression and differentiation in a variety of cell types.
  Members of the GATAs family of DNA-binding proteins recognize a consensus sequence known as the ’GATA’ motif, which is an important cis-element in the promoters of many genes. All GATA-binding proteins contain 1 or 2 zinc finger motifs of the distinctive form CXNCX(17)CNXC.
  Pathology
  germline mutations in atrial septal (...)

• AKT3
  29 October 2007

  References
  Boland E, Clayton-Smith J, Woo VG, McKee S, Manson FD, Medne L, Zackai E, Swanson EA, Fitzpatrick D, Millen KJ, Sherr EH, Dobyns WB, Black GC. Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. Am J Hum Genet. 2007 Aug;81(2):292-303. PMID: #17668379#

• GDF1
  12 October 2007

  Pathology
  heterozygous loss-of-function mutations in GDF1 contribute to cardiac defects ranging from tetralogy of Fallot (ToF) to transposition of the great arteries (TGA) decreased TGFbeta signaling (TGFBs) perturbations of the TGFbeta signaling pathway (TGFBs) is involved in a major subclass of human cardiac malformations.
  See also
  TGFbeta signaling pathway
  cardiac malformations (congenital heart defects) (CHDs)
  left-right patterning left-right patterning could contribute to (...)

• 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 (...)

• WNT10A
  12 October 2007

  The WNT gene family (WNTs) consists of structurally related genes encoding secreted signaling molecules that have been implicated in oncogenesis and in several developmental processes, including regulation of cell fate and patterning during embryogenesis.
  Pathology
  germline mutations in odontoonychodermal dysplasia (MIM.257980) (#17847007#)
  See also
  WNTs
  References
  Adaimy L, Chouery E, Megarbane H, Mroueh S, Delague V, Nicolas E, Belguith H, de Mazancourt P, Megarbane A. Mutation (...)

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