Associated Papers
Mutations of TOPORS identified in families with retinitis pigmentosa.
He K et al.
Ophthalmic Genetics, 2022
Autosomal Dominant Retinitis Pigmentosa-Associated TOPORS Protein Truncating Variants Are Exclusively Located in the Region of Amino Acid Residues 807 to 867.
Wang J et al.
Investigative Ophthalmology & Visual Science, 2022
A Comprehensive Atlas of E3 Ubiquitin Ligase Mutations in Neurological Disorders.
George AJ et al.
Frontiers in Genetics, 2018
29491882 (PubMed )
Supplement: Table2.xlsx › Sheet1
A novel mutation in the dominantly inherited TOPORS gene supports haploinsufficiency as the mechanism of retinitis pigmentosa.
Latasiewicz M et al.
Ophthalmic Genetics, 2017
TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein.
Chakarova CF et al.
Human Molecular Genetics, 2011
Autosomal dominant pericentral retinal dystrophy caused by a novel missense mutation in the TOPORS gene.
Selmer KK et al.
Acta Ophthalmologica, 2010
Mutations in TOPORS: a rare cause of autosomal dominant retinitis pigmentosa in continental Europe?
Schob C et al.
Ophthalmic Genetics, 2009
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