A Novel His158Arg Mutation in TIMP3 Causes a Late-Onset Form of Sorsby Fundus Dystrophy

This publication has 43 references indexed in Scilit:

• TIMP3 mutation in Sorsby's fundus dystrophy: molecular insights
  Expert Reviews in Molecular Medicine, 2005
• Sorsby's fundus dystrophy mutations impair turnover of TIMP-3 by retinal pigment epithelial cells†
  Human Molecular Genetics, 2005
• Tissue Inhibitor of Metalloproteinases-3 (TIMP-3) Is a Binding Partner of Epithelial Growth Factor-containing Fibulin-like Extracellular Matrix Protein 1 (EFEMP1)
  Journal of Biological Chemistry, 2004
• SWISS-MODEL: an automated protein homology-modeling server
  Nucleic Acids Research, 2003
• Sorsby fundus dystrophy mutation Timp3S156C affects the morphological and biochemical phenotype but not metalloproteinase homeostasis
  Journal of Cellular Physiology, 2003
• Clinical features of a novel TIMP-3 mutation causing Sorsby's fundus dystrophy: implications for disease mechanism
  British Journal of Ophthalmology, 2001
• A second independent Tyr168Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy.
  Journal of Medical Genetics, 1996
• A novel Ser156Cys mutation in the tissue inhibitor of metalloproteinases-3 (TIMP3) in Sorsby's fundus dystrophy with unusual clinical features
  Human Molecular Genetics, 1995
• Night blindness in Sorsby's fundus dystrophy reversed by vitamin A
  Nature Genetics, 1995
• A FUNDUS DYSTROPHY WITH UNUSUAL FEATURES (Late onset and dominant inheritance of a central retinal lesion showing oedema, haemorrhage and exudates developing into generalised choroidal atrophy with massive pigment proliferation)
  British Journal of Ophthalmology, 1949