Associated Papers
A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness.
Mahmood U et al.
Genes, 2021
Functional impact of a congenital stationary night blindness type 2 mutation depends on subunit composition of Cav1.4 Ca2+ channels.
Williams B et al.
The Journal of Biological Chemistry, 2020
What can naturally occurring mutations tell us about Ca(v)1.x channel function?
Stockner T et al.
Biochimica Et Biophysica Acta, 2013
Channelopathies in Cav1.1, Cav1.3, and Cav1.4 voltage-gated L-type Ca2+ channels.
Striessnig J et al.
Pflugers Archiv : European Journal of Physiology, 2010
Congenital stationary night blindness in mice - a tale of two Cacna1f mutants.
Lodha N et al.
Advances in Experimental Medicine and Biology, 2010
Modified Ca(v)1.4 expression in the Cacna1f(nob2) mouse due to alternative splicing of an ETn inserted in exon 2.
Doering CJ et al.
Plos One, 2008
Calcium channelopathies: voltage-gated calcium channels.
Adams PJ et al.
Sub-cellular Biochemistry, 2007
Molecular basis of inherited calcium channelopathies: role of mutations in pore-forming subunits.
McKeown L et al.
Acta Pharmacologica Sinica, 2006
A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.
Hemara-Wahanui A et al.
Proceedings of the National Academy of Sciences of the United States of America, 2005
Clinical manifestations of a unique X-linked retinal disorder in a large New Zealand family with a novel mutation in CACNA1F, the gene responsible for CSNB2.
Hope CI et al.
Clinical & Experimental Ophthalmology, 2005
Congenital stationary night blindness type 2 mutations S229P, G369D, L1068P, and W1440X alter channel gating or functional expression of Ca(v)1.4 L-type Ca2+ channels.
Hoda JC et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2005
Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.
Wutz K et al.
European Journal of Human Genetics : Ejhg, 2002
Photoreceptor calcium channels: insight from night blindness.
Morgans CW et al.
Visual Neuroscience, 0
The nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses.
Chang B et al.
Visual Neuroscience, 0
The Ca(v)1.4 calcium channel: more than meets the eye.
Doering CJ et al.
Channels (austin, Tex.), 0