A Novel Tissue Inhibitor of Metalloproteinases-3 Mutation Reveals a Common Molecular Phenotype in Sorsby's Fundus Dystrophy
Author:
Publisher
Elsevier BV
Subject
Cell Biology,Molecular Biology,Biochemistry
Reference36 articles.
1. 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)
2. Mutations in the tissue inhibitor of metalloproteinases-3 (TIMP3) in patients with Sorsby's fundus dystrophy
3. Sequence of human tissue inhibitor of metalloproteinases and its identity to erythroid-potentiating activity
4. cDNA cloning and expression of a metalloproteinase inhibitor related to tissue inhibitor of metalloproteinases.
5. Cloning of the cDNA Encoding Human Tissue Inhibitor of Metalloproteinases-3 (TIMP-3) and Mapping of the TIMP3 Gene to Chromosome 22
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1. Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation;International Journal of Molecular Sciences;2024-03-27
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5. Evidence that all Sorsby's fundus dystrophy mutations cause TIMP3 dimerization resulting in impaired inhibition of VEGFR2;Genes & Diseases;2023-01
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