Malformation genes

Articles

• AHI1
  12 October 2004

  jouberin

• FLNA
  22 March 2005

  filamin-1

• TWIST1
  3 April 2005

  twist-1, twist1, TWST, TWIST

• SIX3
  13 May 2005

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

• cardiac malformations
  13 April 2004

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

• MKS1
  27 February 2006

  Functional studies in zebrafish showed that mks1 is necessary for gastrulation movements and that it interacts genetically with known bbs genes.
  Pathology
  Meckel syndrome type 1 is caused by mutation in a gene encoding a component of the flagellar apparatus basal body proteome (MKS1) (MIM.609883).
  See also
  ciliary proteins
  basal body proteins
  References
  Leitch CC, Zaghloul NA, Davis EE, Stoetzel C, Diaz-Font A, Rix S, Al-Fadhel M, Lewis RA, Eyaid W, Banin E, Dollfus H, Beales PL, (...)

• MYCN
  18 April 2005

  NMYC, N-MYC

• HOXA2
  9 April 2008

  Pathology
  germline mutations of HOXA2 in autosomal recessive microtia (#18394579#)
  References
  Alasti F, Sadeghi A, Sanati MH, Farhadi M, Stollar E, Somers T, Van Camp G. A Mutation in HOXA2 Is Responsible for Autosomal-Recessive Microtia in an Iranian Family. Am J Hum Genet. 2008 Apr;82(4):982-91. PMID: #18394579#

• 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# (...)

• EOMES
  9 May 2008

  TBR2

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