CNGB1‐related rod‐cone dystrophy: A mutation review and update
Sign Up to like & getrecommendations! Published in 2021 at "Human Mutation"
DOI: 10.1002/humu.24205
Abstract: Cyclic nucleotide‐gated channel β1 (CNGB1) encodes the 240‐kDa β subunit of the rod photoreceptor cyclic nucleotide‐gated ion channel. Disease‐causing sequence variants in CNGB1 lead to autosomal recessive rod‐cone dystrophy/retinitis pigmentosa (RP). We herein present a… read more here.
Keywords: cngb1; rod; rod cone; cngb1 related ... See more keywords
Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort
Sign Up to like & getrecommendations! Published in 2023 at "Genes"
DOI: 10.3390/genes14040830
Abstract: CNGB1 gene mutations are a well-known cause of autosomal recessive retinitis pigmentosa (RP), which was recently associated with olfactory dysfunction. The purpose of this study was to report the molecular spectrum and the ocular and… read more here.
Keywords: olfactory dysfunction; olfactory; cngb1 related; spectrum ocular ... See more keywords
The Natural History of CNGB1-Related Retinopathy: A Longitudinal Phenotypic Analysis
Sign Up to like & getrecommendations! Published in 2022 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms23126785
Abstract: Cyclic nucleotide-gated channel β 1 (CNGB1) encodes a subunit of the rod cyclic nucleotide-gated channel. Pathogenic variants in CNGB1 are responsible for 4% of autosomal recessive retinitis pigmentosa (RP). Several treatment strategies show promise for… read more here.
Keywords: natural history; cngb1 related; longitudinal phenotypic; history cngb1 ... See more keywords