Photoreceptor degeneration in a new Cacna1f mutant mouse model
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DOI: 10.1016/j.exer.2018.11.010
Abstract: ABSTRACT The Cacna1f gene encodes the &agr;1F subunit of an L‐type voltage‐gated calcium channel, Cav1.4. In photoreceptor synaptic terminals, Cav1.4 channels mediate glutamate release and postsynaptic responses associated with visual signal transmission. We have discovered… read more here.
Keywords: cacna1f; new cacna1f; mouse model; degeneration ... See more keywords
An Ashkenazi Jewish founder mutation in CACNA1F causes retinal phenotype in both hemizygous males and heterozygous female carriers
Sign Up to like & getrecommendations! Published in 2019 at "Ophthalmic Genetics"
DOI: 10.1080/13816810.2019.1681008
Abstract: ABSTRACT Background: Mutations in CACNA1F have been mainly associated with X-linked incomplete congenital stationary night blindness (icCSNB). Variable phenotypic expression in females was reported in some families. We report here three non-related Ashkenazi Jewish families… read more here.
Keywords: phenotype; cacna1f; ashkenazi jewish; female carriers ... See more keywords