Mutated in human diseases

Articles

• BBS2
  24 March 2005

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

• FLNA
  22 March 2005

  filamin-1

• MKKS
  24 March 2005

  BBS6

• 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 (...)

• EYA4
  3 April 2005

  Pathology
  germline mutations in dilated cardiomyopathy and sensorineural hearing loss autosomal dominant nonsyndromic sensorineural deafness (MIM.601316)
  References
  Schonberger J, Wang L, Shin JT, Kim SD, Depreux FF, Zhu H, Zon L, Pizard A, Kim JB, Macrae CA, Mungall AJ, Seidman JG, Seidman CE. Mutation in the transcriptional coactivator EYA4 causes dilated cardiomyopathy and sensorineural hearing loss. Nat Genet. 2005 Apr;37(4):418-422. PMID: (...)

• ATR-associated diseases
  13 April 2005

  Members of the PIK (phosphatidylinositol kinase)-related kinase family are high molecular weight kinases involved in cell cycle progression, DNA recombination, and the detection of DNA damage.
  The human ATM gene (MIM.607585) is defective in cells of patients with ataxia-telangiectasia (MIM. 208900).
  ATM is involved in detection and response of cells to damaged DNA and is a member of this family.
  Another member is ATR (FRAP) (MIM.601231), involved in a rapamycin-sensitive pathway leading (...)

• DNM2
  5 April 2005

  dynamin-2

• MYH6
  3 April 2005

  alpha-myosin heavy chain

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