Malformation genes

Articles

• 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 (...)

• 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 (...)

• 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.
  Role in development
  splenic (...)

• MYCN
  18 April 2005

  NMYC, N-MYC

• GDF1
  12 October 2007

  Pathology
  heterozygous loss-of-function mutations in GDF1 contribute to cardiac defects ranging from tetralogy of Fallot (ToF) to transposition of the great arteries (TGA) decreased TGFbeta signaling (TGFBs) perturbations of the TGFbeta signaling pathway (TGFBs) is involved in a major subclass of human cardiac malformations.
  See also
  TGFbeta signaling pathway
  cardiac malformations (congenital heart defects) (CHDs)
  left-right patterning left-right patterning could contribute to (...)

• PTCH1
  7 March 2004

  Patched, PTC, PTCH, PTC1

• 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 (...)

• DNAI1
  24 July 2007

  The DNAI1 gene encodes a 699-amino acid protein. Northern blot analysis detected a specific and abundant DNAI1 transcript of approximately 2.5 kb in adult trachea and testis and an additional weakly expressed DNAI1 transcript of approximately 4 kb in trachea.
  Pathology
  germline mutations in heterotaxia immotile cilia syndrome type 1 (IVS1DS) (MIM.242650) Kartagener syndrome (MIM.244400)
  References
  Guichard, C.; Harricane, M.-C.; Lafitte, J.-J.; Godard, P.; Zaegel, M.; Tack, V.; (...)

• LEFTYA
  24 July 2007

  Pathology
  germline mutations in heterotaxy (Left-Right axis malformations) with situs ambiguus and visceral isomerism left ventricle hypoplasia, complete atrioventricular canal defect with a common atrioventricular valve, left ventricular outflow-tract obstruction, inferior vena caval drainage to the left of the descending aorta, left-sided superior vena cava; left pulmonary isomerism (#10053005#)
  NB: Members of the transforming growth factor (TGF)-beta family of cell-signaling (...)

• ACVR2B
  24 July 2007

  Activins
  Activins are gonadal polypeptide hormones that are potent stimulators of FSH secretion and release in vitro.
  Activins are dimers of 2 beta subunits that share extensive sequence homology with transforming growth factor-beta (TGFB) (MIM.190180).
  There are 2 classes of activin receptors, type I and type II.
  Pathology
  germline mutations in left-right axis malformations (situs ambiguus) ventricular inversion (dextrocardia), but intact ventricular septum and normally related (...)

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