Malformation genes

Articles

• cardiac malformations
  13 April 2004

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

• WT1
  28 August 2003

  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 organogenesis (...)

• RPGRIP1L
  16 July 2007

  Definition: RPGRIP1L colocalizes at the basal body and centrosomes with the protein products of both NPHP6 and NPHP4, known genes associated with MKS, CORS and nephronophthisis (a related renal disorder and ciliopathy).
  Pathology
  germline mutations of RPGRIP1L in Joubert syndrome type B (cerebello-oculo-renal syndrome or CORS syndrome)
  RPGRIP1L missense mutations found in CORS individuals diminishes the interaction between RPGRIP1L and nephrocystin-4.
  Mutations in RPGRIP1L can cause (...)

• TFAP2A
  25 April 2008

  AP2-alpha

• TBX22
  15 October 2007

  Pathology
  TBX22 germline mutations in X-linked cleft palate with ankyloglossia (XCP) (MIM.303400)
  See also
  TBXs
  References
  Andreou AM, Pauws E, Jones MC, Singh MK, Bussen M, Doudney K, Moore GE, Kispert A, Brosens JJ, Stanier P. TBX22 missense mutations found in patients with X-linked cleft palate affect DNA binding, sumoylation, and transcriptional repression. Am J Hum Genet. 2007 Oct;81(4):700-12. PMID: (...)

• HOXD13
  29 September 2003

  MIM.142989
  HOXD13, the homeobox-containing gene located at the most 5’ end of the HOXD cluster, plays a critical role in limb development. It has been shown that mutations in human HOXD13 can give rise to limb malformations, with variable expressivity and a wide spectrum of clinical manifestations.
  Polyalanine expansions in HOXD13 cause synpolydactyly, whereas amino acid substitutions in the homeodomain are associated with brachydactyly types D and E.
  Pathology
  fused in the HOXD13-NUP98 (...)

• 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 (...)

• PTCH1
  7 March 2004

  Patched, PTC, PTCH, PTC1

• AHI1
  12 October 2004

  jouberin

• 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 (...)

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