Malformation genes

Articles

• 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 (...)

• NF1
  14 April 2004

  neurofibromin

• 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 (...)

• 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 (...)

• FGFR1
  18 January 2005

  Pathology
  germ-line mutations of FGFR1
  in Pfeiffer syndrome (MIM.101600)
  in Kallmann syndrome with or without cleft lip/palate, or with bimanual synkinesia, or with multiple dental agenesis (MIM.147950)
  in osteoglophonic dysplasia
  isolated trigonocephaly (MIM.190440)
  isolated trigonocephaly (MIM.190440)
  fusion proteins in cellular proliferations
  BCR-FGFR1 by t(8;22)(p12;q11) in chronic myeloid leukemia (FGFR1 at 8p12 and BCR ar 22q11)
  CEP110-FGFR1 by t(8;9)(p12;q33) in (...)

• SIX3
  13 May 2005

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

• MNX1
  8 December 2004

  HLXB9; HB9, HOXHB9, SCRA1; "homeo box HB9", "homeobox HB9"; motor neuron and pancreas homeobox 1

• AHI1
  12 October 2004

  jouberin

• 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 (...)

• MYCN
  18 April 2005

  NMYC, N-MYC

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