Malformation genes

Articles

• 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#

• 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

• 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 (...)

• 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 (...)

• 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 (...)

• EOMES
  9 May 2008

  TBR2

• CRELD1
  29 September 2003

  CRELD1 codes for a cell adhesion molecule previously known as "cirrin". Locus AVSD2 (3p25). CRELD1 is the founding member of a family of matricellular proteins.
  EGF domains
  Epidermal growth factor-like repeats are a class of cysteine-rich domains that mediate interactions between proteins of diverse function. EGF domains are found in proteins that are either completely secreted or have transmembrane regions that tether the protein to the cell surface.
  Pathology
  missense mutations in (...)

• HOXA13
  20 June 2005

  Pathology
  triphalangeal thumb-brachyectrodactyly syndrome (#12382951#)
  hand-foot-genital syndrome
  polyalanine repeat expansion
  HOXA genes in T-cell acute lymphoblastic leukemia (T-ALL)
  HOXA13 rearrangement and surexpression in T-cell acute lymphoblastic leukemia (T-ALL) (#16804919#)
  See also
  polyalanine repeat expansions
  References
  Su X, Drabkin H, Clappier E, Morgado E, Busson M, Romana S, Soulier J, Berger R, Bernard OA, Lavau C. Transforming potential of the T-cell acute (...)

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