Article (Scientific journals)
A novel TIMP3 mutation associated with a retinitis pigmentosa-like phenotype
DeBenedictis, Meghan; Gindzin, Yosef; GLAAB, Enrico et al.
2020In Ophthalmic Genetics, 41 (5), p. 480-484
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The original publication is available at: https://doi.org/10.1080/13816810.2020.1795889


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Keywords :
Sorsby Fundus Dystrophy; Retina; Gene Variation; variant; effect; prediction; structural analysis; TIMP3; retinitis pigmentosa
Abstract :
[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.
Research center :
- Luxembourg Centre for Systems Biomedicine (LCSB): Biomedical Data Science (Glaab Group)
Disciplines :
Ophthalmology
Life sciences: Multidisciplinary, general & others
Author, co-author :
DeBenedictis, Meghan
Gindzin, Yosef
GLAAB, Enrico  ;  University of Luxembourg > Luxembourg Centre for Systems Biomedicine (LCSB)
Anand-Apte, Bela
External co-authors :
yes
Language :
English
Title :
A novel TIMP3 mutation associated with a retinitis pigmentosa-like phenotype
Publication date :
2020
Journal title :
Ophthalmic Genetics
ISSN :
1381-6810
eISSN :
1744-5094
Publisher :
Taylor & Francis, London, United Kingdom
Volume :
41
Issue :
5
Pages :
480-484
Peer reviewed :
Peer Reviewed verified by ORBi
Focus Area :
Systems Biomedicine
Available on ORBilu :
since 10 July 2020

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