Associated Papers
Generation of an induced pluripotent stem cell line (SJTUGHi003-A) from a patient with Sorsby fundus dystrophy carrying c.484G>A mutation in TIMP3 gene.
Zhu X et al.
Stem Cell Research, 2024
Disease-Causing TIMP3 Variants and Deep Phenotyping of Two Czech Families with Sorsby Fundus Dystrophy Associated with Novel p.(Tyr152Cys) Mutation.
Vergaro A et al.
International Journal of Molecular Sciences, 2024
38612555 (PubMed )
Supplement: ijms-25-03744-s001.zip › ijms-2892729-supplementary.pdf
Effective smMIPs-Based Sequencing of Maculopathy-Associated Genes in Stargardt Disease Cases and Allied Maculopathies from the UK.
Mc Clinton B et al.
Genes, 2023
36672932 (PubMed )
Supplement: genes-14-00191-s001.zip › genes-2120704-supplementary.pdf
A novel TIMP3 mutation associated with a retinitis pigmentosa-like phenotype.
DeBenedictis MJ et al.
Ophthalmic Genetics, 2020
Sorsby Fundus Dystrophy Mutation in Tissue Inhibitor of Metalloproteinase 3 (TIMP3) promotes Choroidal Neovascularization via a Fibroblast Growth Factor-dependent Mechanism.
Qi JH et al.
Scientific Reports, 2019
The N-terminal p.(Ser38Cys) TIMP3 mutation underlying Sorsby fundus dystrophy is a founder mutation disrupting an intramolecular disulfide bond.
Naessens S et al.
Human Mutation, 2019
Sorsby fundus dystrophy: Insights from the past and looking to the future.
Anand-Apte B et al.
Journal of Neuroscience Research, 2019
Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes.
Gliem M et al.
Investigative Ophthalmology & Visual Science, 2015
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