Malformation genes

Articles

• FLNA
  22 March 2005

  filamin-1

• TWIST1
  3 April 2005

  twist-1, twist1, TWST, TWIST

• MYCN
  18 April 2005

  NMYC, N-MYC

• 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, (...)

• 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# (...)

• 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 (...)

• WT1
  28 August 2003

  PO
  Definition : 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 (...)

• FGFR3
  29 June 2004

  Pathology
  constitutional activating mutations in
  several autosomal dominant craniosynostosis syndromes
  Crouzon craniosynostosis with acanthosis nigricans
  Muenke syndrome (coronal craniosynostosis)
  Saethre-Chotzen syndrome
  Beare-Stevenson syndrome
  chondrodysplasias
  hypochondroplasia (MIM.146000)
  achondroplasia (MIM.100800)
  SADDAN dysplasia
  skeletal dysplasia with acanthosis nigricans
  thanatophoric dysplasia
  thanatophoric dysplasia type 1 (MIM.187600)
  thanatophoric (...)

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