Malformation genes

Articles

• AHI1
  12 October 2004

  jouberin

• SIX3
  13 May 2005

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

• BMP4
  3 July 2008

  BMP4 is a vital regulatory molecule that functions throughout development in mesoderm induction, tooth development, limb formation, bone induction, and fracture repair.
  BMP4 is a member the transforming growth factor-beta (TGFBs) superfamily, encomprising at least 12 members, including TGFB1 (MIM.190180), TGFB2 (MIM.190220), TGFB3 (MIM.190230), Mullerian inhibitory substance (MIF) (MIM.600957), the bone morphogenetic protein-2A (BMP2A), bone morphogenetic protein-2B (BMP2B) (MIM.112262), (...)

• ERCC1
  5 March 2006

  RAD10

• 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# (...)

• TWIST1
  3 April 2005

  twist-1, twist1, TWST, TWIST

• TFAP2A
  25 April 2008

  AP2-alpha

• ZIC2
  9 February 2005

  Pathology
  germline mutations of ZIC2 in sporadic holoprosencephaly type 5 (polyalanine repeat expansion)
  See also
  polyalanine repeat expansions

• 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#

• FLNA
  22 March 2005

  filamin-1

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