Malformation genes

Articles

• MYCN
  18 April 2005

  NMYC, N-MYC

• 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 (...)

• 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 (...)

• NF1
  14 April 2004

  neurofibromin

• MNX1
  8 December 2004

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

• SIX3
  13 May 2005

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

• EOMES
  9 May 2008

  TBR2

• TP63
  4 November 2008

  p63 PO
  Definition: p63 is a nuclear protein encoded by a gene on chromosome 3q27-29 with homology to p53 (a tumour suppressor gene). It has been shown to regulate growth and development in epithelium of the skin, cervix, breast and urogenital tract.
  Images
  p63 in Warthin tumor https://twitter.com/chioseasi/status/872838132428718081
  p63 loss of expression in breast DCIS https://twitter.com/Neuygn/status/893110163300921345
  p63 in adenoid cystic carcinoma of the (...)

• 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 (...)

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