Renal dysfunction, rod‐cone dystrophy, and sensorineural hearing loss caused by a mutation in RRM2B
Sign Up to like & getrecommendations! Published in 2020 at "Human Mutation"
DOI: 10.1002/humu.24094
Abstract: More than two decades ago, a recessive syndromic phenotype affecting kidneys, eyes, and ears, was first described in the endogamous Afrikaner population of South Africa. Using whole‐exome sequencing of DNA from two affected siblings (and… read more here.
Keywords: hearing loss; cone dystrophy; mutation rrm2b; rod cone ... See more keywords
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
Mutation-Independent Gene Therapies for Rod-Cone Dystrophies.
Sign Up to like & getrecommendations! Published in 2018 at "Advances in experimental medicine and biology"
DOI: 10.1007/978-3-319-75402-4_10
Abstract: The clinical success of gene replacement therapies in recent years has served as a proof of concept for the treatment of inherited retinal degenerations using adeno-associated virus (AAV) as viral vector. However, inherited retinal degenerative… read more here.
Keywords: mutation independent; cone dystrophies; rod cone; gene ... See more keywords
Rod-cone dystrophy associated with the Gly167Asp variant in PRPH2
Sign Up to like & getrecommendations! Published in 2019 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2019.1605393
Abstract: Peripherin 2-associated retinopathies are phenotypically heterogenous and can present as autosomal dominant retinitis pigmentosa, cone-rod dystrophy, various forms of macular and pattern dystrophies, or recessive retinopathy (1,2). We report a case of rod-cone dystrophy associated… read more here.
Keywords: gly167asp; dystrophy; dystrophy associated; rod cone ... See more keywords
CERKL gene knockout disturbs photoreceptor outer segment phagocytosis and causes rod-cone dystrophy in zebrafish
Sign Up to like & getrecommendations! Published in 2017 at "Human Molecular Genetics"
DOI: 10.1093/hmg/ddx137
Abstract: In humans, CERKL mutations cause widespread retinal degeneration: early dysfunction and loss of rod and cone photoreceptors in the outer retina and, progressively, death of cells in the inner retina. Despite intensive efforts, the function… read more here.
Keywords: phagocytosis; dystrophy; photoreceptor outer; rod cone ... See more keywords
PHENOTYPIC CHARACTERISTICS OF ROD-CONE DYSTROPHY ASSOCIATED WITH MYO7A MUTATIONS IN A LARGE FRENCH COHORT.
Sign Up to like & getrecommendations! Published in 2019 at "Retina"
DOI: 10.1097/iae.0000000000002636
Abstract: PURPOSE To document the rod-cone dystrophy phenotype of patients with Usher syndrome type 1 (USH1) harboring MYO7A mutations. METHODS Retrospective cohort study of 53 patients (42 families) with biallelic MYO7A mutations who underwent comprehensive examination,… read more here.
Keywords: cohort; rod cone; myo7a mutations; cone dystrophy ... See more keywords
Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod–cone degeneration
Sign Up to like & getrecommendations! Published in 2022 at "Cold Spring Harbor Molecular Case Studies"
DOI: 10.1101/mcs.a006247
Abstract: A family, with two affected identical twins with early-onset recessive inherited retinal degeneration, was analyzed to determine the underlying genetic cause of pathology. Exome sequencing revealed a rare and previously reported causative variant (c.1923_1969delinsTCTGGG; p.Asn643Glyfs*29)… read more here.
Keywords: recessive rod; degeneration; cone degeneration; cause ... See more keywords
ARL2BP mutations account for 0.1% of autosomal recessive rod‐cone dystrophies with the report of a novel splice variant
Sign Up to like & getrecommendations! Published in 2017 at "Clinical Genetics"
DOI: 10.1111/cge.12909
Abstract: We report a novel ARL2BP splice site mutation after whole-exome sequencing (WES) applied to a Moroccan family including two sisters affected with autosomal recessive rod-cone dystrophy (arRCD). Subsequent analysis of 844 index cases did not… read more here.
Keywords: splice; report novel; autosomal recessive; rod cone ... See more keywords
Genetic elimination of rod/cone coupling reveals the contribution of the secondary rod pathway to the retinal output.
Sign Up to like & getrecommendations! Published in 2022 at "Science advances"
DOI: 10.1126/sciadv.abm4491
Abstract: In the retina, signals originating from rod and cone photoreceptors can reach retinal ganglion cells (RGCs)-the output neurons-through different pathways. However, little is known about the exact sensitivities and operating ranges of these pathways. Previously,… read more here.
Keywords: rod; secondary rod; rod cone; rod pathway ... See more keywords
Age-related change in flicker thresholds with rod- and cone-enhanced stimuli
Sign Up to like & getrecommendations! Published in 2020 at "PLoS ONE"
DOI: 10.1371/journal.pone.0232784
Abstract: Purpose Rod and cone photoreceptor-specific tests can be time-consuming. A new non-invasive test is described. The test is based on the measurement of flicker modulation thresholds with rod- and cone-enhanced visual stimuli, which requires only… read more here.
Keywords: age; rod cone; thresholds rod; cone ... See more keywords
The Emergence of Rod-Cone Cellular Interaction
Sign Up to like & getrecommendations! Published in 2022 at "Frontiers in Genetics"
DOI: 10.3389/fgene.2022.900849
Abstract: We studied the origin of rod-derived cone viability factor (RdCVF) during evolution. In mammals, the nucleoredoxin-like 1 gene (NXNL1) produces a truncated thioredoxin-like protein, RdCVF, by intron retention in rod photoreceptors of the retina. This… read more here.
Keywords: rdcvf; emergence rod; alternative splicing; rod cone ... See more keywords