Mutated in human diseases

Articles

• DSG1
  14 July 2003

  desmoglein-1

• huntingtin
  16 July 2003

  Huntingtin acts on the transcription of brain-derived neurotrophic factor (BDNF) and of many other neuronal genes and on BDNF transport.
  Wild-type huntingtin sequesters Repressor element 1 (RE1)-silencing transcription factor (REST, also known as neuronal restrictive silencing factor, NRSF) in the cytoplasm in such a way that the co-repressor complex does not form at the RE1 (also known as the neuron-restrictive silencer element, NRSE) sites and the BDNF gene is transcribed.
  The asterisk (...)

• 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 (...)

• GNAS
  29 September 2003

  GNAS1, NESP55, NESP-55, neuroendocrine secretory protein-55

• CD36
  6 October 2003

  GP4, GP3B, GP IIIb

• LMNA
  13 July 2003

  lamin-A/C, lamin-A, lamin-C, lamin A, lamin C

• 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 (...)

• ARX
  25 September 2003

  aristaless-related homeobox gene

• FOXC2
  25 September 2003

  Pathology
  mutations in the FOXC2 gene coding for the forkhead-related transcription factor causing lymphedema-distichiasis
  mutations in hereditary lymphedema-distichiasis syndrome associated with renal disease and diabetes mellitus (#15523639#)
  Haploinsufficiencies of FOXF1 and FOXC2 genes associated with lethal alveolar capillary dysplasia and congenital heart disease. (#20425831#)
  Genomic and genic deletions of the FOX gene cluster on 16q24.1 and inactivating mutations of FOXF1 (...)

• BRCA1
  29 September 2003

  Wikipedia
  Definition: BRCA1 is a tumor suppressor that functions in controlling cell growth and maintaining genomic stability. The breast and ovarian cancer susceptibility gene BRCA1 encodes a zinc-finger protein of unknown function.
  BRCA1 is a tumour suppressor that has important roles in the protection against genomic instability.
  Cells lacking BRCA1 are hypersensitive to many DNA-damaging agents such as ultraviolet light and ionizing radiation, and show defects in both S- and (...)

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