Associated Papers
Clinical manifestations of dual-gene variants involving ABCA4 in retinal dystrophies.
Wolfram L et al.
Bmc Ophthalmology, 2025
Ocular genetics in the Japanese population.
Hotta Y et al.
Japanese Journal of Ophthalmology, 2024
Coexistence of GNAT1 and ABCA4 variants associated with Nougaret-type congenital stationary night blindness and childhood-onset cone-rod dystrophy.
Hayashi T et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2020
Novel homozygous in-frame deletion of GNAT1 gene causes golden appearance of fundus and reduced scotopic ERGs similar to that in Oguchi disease in Japanese family.
Kubota D et al.
Ophthalmic Genetics, 2019
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Riggs-type dominant congenital stationary night blindness: ERG findings, a new GNAT1 mutation and a systemic association.
Marmor MF et al.
Documenta Ophthalmologica. Advances in Ophthalmology, 2018
A Novel Heterozygous Missense Mutation in GNAT1 Leads to Autosomal Dominant Riggs Type of Congenital Stationary Night Blindness.
Zeitz C et al.
Biomed Research International, 2018
A novel homozygous truncating GNAT1 mutation implicated in retinal degeneration.
Carrigan M et al.
The British Journal of Ophthalmology, 2016
Identification of a Novel Homozygous Nonsense Mutation Confirms the Implication of GNAT1 in Rod-Cone Dystrophy.
Méjécase C et al.
Plos One, 2016
Biology and therapy of inherited retinal degenerative disease: insights from mouse models.
Veleri S et al.
Disease Models & Mechanisms, 2015
A truncated form of rod photoreceptor PDE6 β-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit.
Manes G et al.
Plos One, 2014
Next-generation genetic testing for retinitis pigmentosa.
Neveling K et al.
Human Mutation, 2012
GNAT1 associated with autosomal recessive congenital stationary night blindness.
Naeem MA et al.
Investigative Ophthalmology & Visual Science, 2012
p.Gln200Glu, a putative constitutively active mutant of rod alpha-transducin (GNAT1) in autosomal dominant congenital stationary night blindness.
Szabo V et al.
Human Mutation, 2007
Transgenic mice carrying the H258N mutation in the gene encoding the beta-subunit of phosphodiesterase-6 (PDE6B) provide a model for human congenital stationary night blindness.
Tsang SH et al.
Human Mutation, 2007
Loss of protein structure stability as a major causative factor in monogenic disease.
Yue P et al.
Journal of Molecular Biology, 2005
[Genetics of retinal dystrophies--an overview].
Bolz H
Der Ophthalmologe : Zeitschrift Der Deutschen Ophthalmologischen Gesellschaft, 2005