Varaico: Literature-Extracted Genetic Variants

Gene:TIMP3
Variant:p.Y191C
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TIMP3

NM_000362.5:p.Y191C

Associated Papers

Accurate affinity models for SH2 domains from peptide binding assays and free-energy regression.

Gagoski D et al.

Protein Science : a Publication of the Protein Society, 2025

41088778 (PubMed )
Supplement: PRO-34-e70317-s008.xlsx › _S6_-_PTMVar_-_cSrc

Accurate sequence-to-affinity models for SH2 domains from multi-round peptide binding assays coupled with free-energy regression.

Gagoski D et al.

Biorxiv : the Preprint Server for Biology, 2025

39764007 (PubMed )
Supplement: media-1.xlsx › _S6_-_PTMVar_-_cSrc

Sorsby Fundus Dystrophy in an Asian Pedigree: Pathogenic Timp3 P.Y191c Variant Impairs Its Binding with Mmp2/9 and Cellular Localization.

Li M et al.

Clinical Ophthalmology (auckland, N.z.), 2025

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

TIMP3 c.319C>T, p.(Arg107Cys): Novel Sequence Variant In Sorsby Fundus Dystrophy.

Hristova R et al.

Nepalese Journal of Ophthalmology : a Biannual Peer-reviewed Academic Journal of the Nepal Ophthalmic Society : Nepjoph, 2024

Review: Mechanisms of TIMP-3 accumulation and pathogenesis in Sorsby fundus dystrophy.

Betts JHJ et al.

Molecular Vision, 2024

Deglycosylation Increases the Aggregation and Angiogenic Properties of Mutant Tissue Inhibitor of Metalloproteinase 3 Protein: Implications for Sorsby Fundus Dystrophy.

Qi JH et al.

International Journal of Molecular Sciences, 2022

SWEPT-SOURCE OPTICAL COHERENCE TOMOGRAPHY DETECTION OF BRUCH MEMBRANE AND CHORIOCAPILLARIS ABNORMALITIES IN SORSBY MACULAR DYSTROPHY.

Iyer PG et al.

Retina (philadelphia, Pa.), 2022

Treatment of Sorsby fundus dystrophy with anti-tumor necrosis factor-alpha medication.

Spaide RF

Eye (london, England), 2022

ConVarT: a search engine for matching human genetic variants with variants from non-human species.

Pir MS et al.

Nucleic Acids Research, 2022

34718716 (PubMed )
Supplement: gkab939_supplemental_files.zip › Table_S14.xls › human_pat_mouse_unk_orthovar_14

A novel TIMP3 mutation associated with a retinitis pigmentosa-like phenotype.

DeBenedictis MJ et al.

Ophthalmic Genetics, 2020

The Diverse Roles of TIMP-3: Insights into Degenerative Diseases of the Senescent Retina and Brain.

Dewing JM et al.

Cells, 2019

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

A new autosomal dominant eye and lung syndrome linked to mutations in TIMP3 gene.

Meunier I et al.

Scientific Reports, 2016

Programmable editing of a target base in genomic DNA without double-stranded DNA cleavage.

Komor AC et al.

Nature, 2016

27096365 (PubMed )
Supplement: NIHMS774092-supplement-1.pdf

Sorsby Fundus Dystrophy: Novel Mutations, Novel Phenotypic Characteristics, and Treatment Outcomes.

Gliem M et al.

Investigative Ophthalmology & Visual Science, 2015

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