Reference : A novel TIMP3 mutation associated with a retinitis pigmentosa-like phenotype
Scientific journals : Article
Life sciences : Multidisciplinary, general & others
Human health sciences : Ophthalmology
Systems Biomedicine
http://hdl.handle.net/10993/43801
A novel TIMP3 mutation associated with a retinitis pigmentosa-like phenotype
English
DeBenedictis, Meghan [> >]
Gindzin, Yosef [> >]
Glaab, Enrico mailto [University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB) > >]
Anand-Apte, Bela [> >]
2020
Ophthalmic Genetics
Taylor & Francis
41
5
480-484
Yes (verified by ORBilu)
International
1381-6810
1744-5094
London
United Kingdom
[en] Sorsby Fundus Dystrophy ; Retina ; Gene Variation ; variant ; effect ; prediction ; structural analysis ; TIMP3 ; retinitis pigmentosa
[en] Sorsby Fundus Dystrophy is an inherited macular degeneration caused by pathogenic variants in the TIMP3 gene. In this study we describe a father and son initially diagnosed with retinitis pigmentosa of unknown genetic origin. More recent genetic testing of the patients, identified a novel c.410A>G; p.Tyr137Cys variant of uncertain clinical significance in the Tissue Inhibitor of Metalloproteinase-3 (TIMP3) gene. The atypical clinical findings led us to compare the theoretical molecular effects of this variant on the TIMP3 protein structure and interactions with other proteins using homology modeling and machine learning predictions.
Luxembourg Centre for Systems Biomedicine (LCSB): Biomedical Data Science (Glaab Group)
Researchers ; Professionals ; Students
http://hdl.handle.net/10993/43801
10.1080/13816810.2020.1795889
https://doi.org/10.1080/13816810.2020.1795889
The original publication is available at: https://doi.org/10.1080/13816810.2020.1795889

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