Associated Papers
Enhancing Molecular Diagnostic Accuracy in Genetic Eye Disorders Through a Personalized Re-Evaluation Strategy.
Martins PM et al.
Investigative Ophthalmology & Visual Science, 2026
GenTIGS: a database empowering research and clinical insights on rare genetic disorders with an Indian perspective.
Rashid I et al.
Nar Genomics and Bioinformatics, 2025
Clinical and genetic landscape of IRD in Portugal: pooled data from the nationwide IRD-PT registry.
Marta A et al.
Npj Genomic Medicine, 2025
ConVarT: a search engine for matching human genetic variants with variants from non-human species.
Pir MS et al.
Nucleic Acids Research, 2022
Cav1.4 dysfunction and congenital stationary night blindness type 2.
Koschak A et al.
Pflugers Archiv : European Journal of Physiology, 2021
A Review of Genetic and Physiological Disease Mechanisms Associated With Cav1 Channels: Implications for Incomplete Congenital Stationary Night Blindness Treatment.
Sadeh TT et al.
Frontiers in Genetics, 2021
Voltage-Gated Ca2+-Channel α1-Subunit de novo Missense Mutations: Gain or Loss of Function - Implications for Potential Therapies.
Striessnig J
Frontiers in Synaptic Neuroscience, 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
Using an integrative machine learning approach utilising homology modelling to clinically interpret genetic variants: CACNA1F as an exemplar.
Sallah SR et al.
European Journal of Human Genetics : Ejhg, 2020
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Where are the missing gene defects in inherited retinal disorders? Intronic and synonymous variants contribute at least to 4% of CACNA1F-mediated inherited retinal disorders.
Zeitz C et al.
Human Mutation, 2019
Ca2+ Channels in Anterior Pituitary Somatotrophs: A Therapeutic Perspective.
Nussinovitch I
Endocrinology, 2018
An Improved Method for Modeling Voltage-Gated Ion Channels at Atomic Accuracy Applied to Human Cav Channels.
Martinez-Ortiz W et al.
Cell Reports, 2018
Channeling Vision: CaV1.4-A Critical Link in Retinal Signal Transmission.
Waldner DM et al.
Biomed Research International, 2018
Characterization of Disease-Associated Mutations in Human Transmembrane Proteins.
Molnár J et al.
Plos One, 2016
Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
Zeitz C et al.
Progress in Retinal and Eye Research, 2015
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
Functional analysis of congenital stationary night blindness type-2 CACNA1F mutations F742C, G1007R, and R1049W.
Peloquin JB et al.
Neuroscience, 2007
Calcium channelopathies: voltage-gated calcium channels.
Adams PJ et al.
Sub-cellular Biochemistry, 2007
X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene.
Jalkanen R et al.
Journal of Medical Genetics, 2006
Molecular basis of inherited calcium channelopathies: role of mutations in pore-forming subunits.
McKeown L et al.
Acta Pharmacologica Sinica, 2006
Effects of congenital stationary night blindness type 2 mutations R508Q and L1364H on Cav1.4 L-type Ca2+ channel function and expression.
Hoda JC et al.
Journal of Neurochemistry, 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
L-type Ca2+ channels in Ca2+ channelopathies.
Striessnig J et al.
Biochemical and Biophysical Research Communications, 2004
The CACNA1F gene encodes an L-type calcium channel with unique biophysical properties and tissue distribution.
McRory JE et al.
The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2004
Calcium channels and channelopathies of the central nervous system.
Pietrobon D
Molecular Neurobiology, 2002
A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.
Boycott KM et al.
Human Genetics, 2001
An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.
Strom TM et al.
Nature Genetics, 1998
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
Pore stability and gating in voltage-activated calcium channels.
Hering S et al.
Channels (austin, Tex.), 0
The Ca(v)1.4 calcium channel: more than meets the eye.
Doering CJ et al.
Channels (austin, Tex.), 0