Associated Papers
Clinical and Genetic Characteristics of Korean Congenital Stationary Night Blindness Patients.
Kim HM et al.
Genes, 2021
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
The molecular architecture of photoreceptor phosphodiesterase 6 (PDE6) with activated G protein elucidates the mechanism of visual excitation.
Irwin MJ et al.
The Journal of Biological Chemistry, 2019
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
31345222 (PubMed )
Supplement: 12920_2019_543_MOESM6_ESM.xlsx › S5C
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
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
GNAT1 associated with autosomal recessive congenital stationary night blindness.
Naeem MA et al.
Investigative Ophthalmology & Visual Science, 2012
1 rhodopsin mutations in congenital night blindness.
McAlear SD et al.
Advances in Experimental Medicine and Biology, 2010
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
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