Mutated in human diseases

Articles

• AHI1
  12 October 2004

  jouberin

• APP
  26 November 2003

  amyloid beta A4 precursor protein

• CDK5RAP2
  3 April 2005

  Pathology
  germline mutations in primary autosomal recessive microcephaly type 3 (MIM.604804)
  CDK5RAP2/PDGFRA fusion gene by ins(9;4)(q33;q12q25) in chronic eosinophilic leukemia (#16845659#)
  References
  Walz C, Curtis C, Schnittger S, Schultheis B, Metzgeroth G, Schoch C, Lengfelder E, Erben P, Muller MC, Haferlach T, Hochhaus A, Hehlmann R, Cross NC, Reiter A. Transient response to imatinib in a chronic eosinophilic leukemia associated with ins(9;4)(q33;q12q25) and a CDK5RAP2-PDGFRA (...)

• CENPJ
  3 April 2005

  centromeric protein J

• BBS2
  24 March 2005

  References
  germline mutations in Bardet-Biedl syndrome (MIM.209900)

• FLNA
  22 March 2005

  filamin-1

• NEB
  22 March 2005

  nebulin

• ARHGEF6
  22 March 2005

  Rho guanine nucleotide exchange factor 6

• BBS1
  24 March 2005

  BBS1 is a member of the Ras superfamily of small GTP-binding proteins.
  Pathology
  germline mutation in Bardet-Biedl syndrome (BBS) (MIM.209900)
  Pathogenesis
  The loss of BBS1 not only impedes ciliary function, which manifests as established ciliary phenotypes (for example, retinal dystrophy, situs inversus and cystic kidneys), but also perturbs dendritic transport.
  This might explain some of the neuronal phenotypes seen not only in BBS, but also in other established centrosomal (...)

• EFEMP1
  14 April 2005

  FBLN3, fibulin-3, fibrillin-like 3, FBNL3

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