Malformation genes

Articles

• 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 (...)

• CFC1
  24 July 2007

  Genes of the EGFs-CFCs family encode extracellular proteins that play key roles in intercellular signaling pathways during vertebrate embryogenesis.
  Pathology
  germline mutations in autosomal visceral heterotaxy (sporadic left-right anomalies) (MIM.605376) sporadic double-outlet right ventricle (DORV) (MIM.217095) dextro-looped transposition of the great arteries (MIM.608808) associated with intact interventricular septum
  See also
  CRIPTO (TDGF1) (MIM.187395)
  nodal signalling
  axial (...)

• 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 (...)

• 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 (...)

• EOMES
  9 May 2008

  TBR2

• 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.; (...)

• AKT3
  29 October 2007

  References
  Boland E, Clayton-Smith J, Woo VG, McKee S, Manson FD, Medne L, Zackai E, Swanson EA, Fitzpatrick D, Millen KJ, Sherr EH, Dobyns WB, Black GC. Mapping of deletion and translocation breakpoints in 1q44 implicates the serine/threonine kinase AKT3 in postnatal microcephaly and agenesis of the corpus callosum. Am J Hum Genet. 2007 Aug;81(2):292-303. PMID: #17668379#

• 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 (...)

• HOXA13
  20 June 2005

  Pathology
  triphalangeal thumb-brachyectrodactyly syndrome (#12382951#)
  hand-foot-genital syndrome
  polyalanine repeat expansion
  HOXA genes in T-cell acute lymphoblastic leukemia (T-ALL)
  HOXA13 rearrangement and surexpression in T-cell acute lymphoblastic leukemia (T-ALL) (#16804919#)
  See also
  polyalanine repeat expansions
  References
  Su X, Drabkin H, Clappier E, Morgado E, Busson M, Romana S, Soulier J, Berger R, Bernard OA, Lavau C. Transforming potential of the T-cell acute (...)

• 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, (...)

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