Associated Papers
Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort.
Geada S et al.
Genes, 2023
CNGB1-related rod-cone dystrophy: A mutation review and update.
Nassisi M et al.
Human Mutation, 2021
Identification of a CNGB1 Frameshift Mutation in a Han Chinese Family with Retinitis Pigmentosa.
Xiang Q et al.
Optometry and Vision Science : Official Publication of the American Academy of Optometry, 2018
Patients and animal models of CNGβ1-deficient retinitis pigmentosa support gene augmentation approach.
Petersen-Jones SM et al.
The Journal of Clinical Investigation, 2018
29202463 (PubMed )
Supplement: jci-128-95161-s001.pdf
Run of homozygosity analysis reveals a novel nonsense variant of the CNGB1 gene involved in retinitis pigmentosa 45.
Fradin M et al.
Ophthalmic Genetics, 2016
A large animal model for CNGB1 autosomal recessive retinitis pigmentosa.
Winkler PA et al.
Plos One, 2013
A CNGB1 frameshift mutation in Papillon and Phalène dogs with progressive retinal atrophy.
Ahonen SJ et al.
Plos One, 2013
Structural and functional protein network analyses predict novel signaling functions for rhodopsin.
Kiel C et al.
Molecular Systems Biology, 2011
22108793 (PubMed )
Supplement: msb201183-s1.pdf
Molecular diagnosis for heterogeneous genetic diseases with targeted high-throughput DNA sequencing applied to retinitis pigmentosa.
Simpson DA et al.
Journal of Medical Genetics, 2011
The glutamic acid-rich protein is a gating inhibitor of cyclic nucleotide-gated channels.
Michalakis S et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2011
Impaired channel targeting and retinal degeneration in mice lacking the cyclic nucleotide-gated channel subunit CNGB1.
Hüttl S et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2005
A homozygosity-based search for mutations in patients with autosomal recessive retinitis pigmentosa, using microsatellite markers.
Kondo H et al.
Investigative Ophthalmology & Visual Science, 2004
Segregation of a mutation in CNGB1 encoding the beta-subunit of the rod cGMP-gated channel in a family with autosomal recessive retinitis pigmentosa.
Bareil C et al.
Human Genetics, 2001
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