| Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series. | Optic nerve involvement in CACNA1F-related disease: observations from a multicentric case series.
Marziali E, Van Den Broeck F, Bargiacchi S, Fortunato P, Caputo R, Sodi A, De Zaeytijd J, Murro V, Mucciolo DP, Giorgio D, Passerini I, Palazzo V, Peluso F, de Baere E, Zeitz C, Leroy BP, Secci J, Bacci GM. | 03/28/2023 |
| Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling. | Assessing the Pathogenicity of In-Frame CACNA1F Indel Variants Using Structural Modeling.
Sallah SR, Sergouniotis PI, Hardcastle C, Ramsden S, Lotery AJ, Lench N, Lovell SC, Black GCM. | 12/10/2022 |
| Identification of a novel CACNA1F mutation in a Chinese family with CORDX3. | Identification of a novel CACNA1F mutation in a Chinese family with CORDX3.
Du M, Li Y, Zheng P, Zhong L, Zhao W, Zhang Y, Gu H, Li X, Liu Z., Free PMC Article | 11/19/2022 |
| Two novel CACNA1F gene mutations cause two different phenotypes: Aland Eye Disease and incomplete Congenital Stationary Night Blindness. | Two novel CACNA1F gene mutations cause two different phenotypes: Aland Eye Disease and incomplete Congenital Stationary Night Blindness.
Mihalich A, Cammarata G, Tremolada G, Pollazzon M, Di Blasio AM, Marzoli SB. | 07/16/2022 |
| Strikingly High Myopia in Aland Island Eye Disease. | Strikingly High Myopia in Aland Island Eye Disease.
Lai WC, Etter J, Schechet SA. | 02/19/2022 |
| Optic Atrophy and Inner Retinal Thinning in CACNA1F-related Congenital Stationary Night Blindness. | Optic Atrophy and Inner Retinal Thinning in CACNA1F-related Congenital Stationary Night Blindness.
Leahy KE, Wright T, Grudzinska Pechhacker MK, Audo I, Tumber A, Tavares E, MacDonald H, Locke J, VandenHoven C, Zeitz C, Heon E, Buncic JR, Vincent A., Free PMC Article | 08/7/2021 |
| A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Aland Island Eye Disease and Incomplete Congenital Stationary Night Blindness. | A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness.
Mahmood U, Méjécase C, Ali SMA, Moosajee M, Kozak I., Free PMC Article | 07/31/2021 |
| Functional impact of a congenital stationary night blindness type 2 mutation depends on subunit composition of Cav1.4 Ca(2+) channels. | Functional impact of a congenital stationary night blindness type 2 mutation depends on subunit composition of Ca(v)1.4 Ca(2+) channels.
Williams B, Lopez JA, Maddox JW, Lee A., Free PMC Article | 05/15/2021 |
| An Ashkenazi Jewish founder mutation in CACNA1F gene is associated with congenital stationary night blindness. | An Ashkenazi Jewish founder mutation in CACNA1F causes retinal phenotype in both hemizygous males and heterozygous female carriers.
Kimchi A, Meiner V, Silverstein S, Macarov M, Mor-Shaked H, Blumenfeld A, Audo I, Zeitz C, Mechoulam H, Banin E, Sharon D, Yahalom C. | 06/13/2020 |
| Data revealed the presence of intronic and synonymous disease-causing variants leading to miss-splicing of CACNA1F-mediated inherited retinal disorders. | 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, Michiels C, Neuillé M, Friedburg C, Condroyer C, Boyard F, Antonio A, Bouzidi N, Milicevic D, Veaux R, Tourville A, Zoumba A, Seneina I, Foussard M, Andrieu C, N Preising M, Blanchard S, Saraiva JP, Mesrob L, Le Floch E, Jubin C, Meyer V, Blanché H, Boland A, Deleuze JF, Sharon D, Drumare I, Defoort-Dhellemmes S, De Baere E, Leroy BP, Zanlonghi X, Casteels I, de Ravel TJ, Balikova I, Koenekoop RK, Laffargue F, McLean R, Gottlob I, Bonneau D, Schorderet DF, L Munier F, McKibbin M, Prescott K, Pelletier V, Dollfus H, Perdomo-Trujillo Y, Faure C, Reiff C, Wissinger B, Meunier I, Kohl S, Banin E, Zrenner E, Jurklies B, Lorenz B, Sahel JA, Audo I. | 04/4/2020 |
| In Cav1.4Deltaex47, Ca(2+)-dependent inactivation (CDI) requires both the N-terminal and C-terminal (C lobe) lobes of CaM to bind Ca(2+), whereas CDI in K1591X is driven mainly by Ca(2+) binding to the C lobe. | Splicing of an automodulatory domain in Ca(v)1.4 Ca(2+) channels confers distinct regulation by calmodulin.
Williams B, Haeseleer F, Lee A., Free PMC Article | 10/26/2019 |
| We show that genetic testing may help to differentiate between optic atrophy, Leber's congenital amaurosis , and CACNA1F-associated retinopathy at a much earlier age, in absence of electrophysiological examination and by widely overlapping phenotypes. | Novel truncating mutation in CACNA1F in a young male patient diagnosed with optic atrophy.
Pasutto F, Ekici A, Reis A, Kremers J, Huchzermeyer C. | 04/13/2019 |
| CaV1.4 channels are indeed modulated by PKA phosphorylation within the inhibitor of Ca(2+)-dependent inactivation (ICDI) motif. | Protein kinase A modulation of CaV1.4 calcium channels.
Sang L, Dick IE, Yue DT., Free PMC Article | 09/1/2018 |
| These two cases demonstrate the clinical overlap between Leber congenital amaurosis and type 2 congenital stationary night blindness in infants and young children. Genetic testing is an essential tool in these cases and provides a more accurate diagnosis and prognosis for patients with inherited retinal degenerative disorders. | The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA.
Men CJ, Bujakowska KM, Comander J, Place E, Bedoukian EC, Zhu X, Leroy BP, Fulton AB, Pierce EA., Free PMC Article | 04/14/2018 |
| AED, iCSNB, and X-linked cone-rod dystrophy 3 are designations that refer to a broad, continuous spectrum of clinical appearances caused in the majority by a variety of mutations in CACNA1F. | Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.
Hove MN, Kilic-Biyik KZ, Trotter A, Grønskov K, Sander B, Larsen M, Carroll J, Bech-Hansen T, Rosenberg T., Free PMC Article | 06/24/2017 |
| exon 47 encodes structural determinants that regulate CDI and voltage-dependent activation of Cav1.4, and is necessary for modulation of channel activation by CaBP4. | Characterization of C-terminal Splice Variants of Cav1.4 Ca2+ Channels in Human Retina.
Haeseleer F, Williams B, Lee A., Free PMC Article | 05/13/2017 |
| Studies indicate a role for L-type calcium channel Cav1.3 and Cav1.4 in cochlear inner hair cells (IHCs) and retinal photoreceptors (PRs). | Voltage-Gated Cav1 Channels in Disorders of Vision and Hearing.
Joiner ML, Lee A., Free PMC Article | 07/16/2016 |
| a single nucleotide change c.1555C>T in exon 13 of the CACNA1F gene, leading to the substitution of arginine by tryptophan (p.R519W) in a Chinese individual affected by retinitis pigmentosa, is identified. | Establishment and rapid detection of a heterozygous missense mutation in the CACNA1F gene by ARMS technique with double-base mismatched primers.
Yang WC, Zhu L, Zhou BX, Tania S, Zhou Q, Khan MA, Fu XL, Cheng JL, Lv HB, Fu JJ. | 06/11/2016 |
| novel heterozygous missense mutation (c.1555C>T, p.R519W) in CACNA1F gene, which is probably associated with XLRP. | Identification of a novel heterozygous missense mutation in the CACNA1F gene in a chinese family with retinitis pigmentosa by next generation sequencing.
Zhou Q, Cheng J, Yang W, Tania M, Wang H, Khan MA, Duan C, Zhu L, Chen R, Lv H, Fu J., Free PMC Article | 03/5/2016 |
| analysis of Cav1.4 complexes alpha11.4, beta2, and alpha2delta4 in HEK293T cells and in mouse retina | Characterization of Cav1.4 complexes (α11.4, β2, and α2δ4) in HEK293T cells and in the retina.
Lee A, Wang S, Williams B, Hagen J, Scheetz TE, Haeseleer F., Free PMC Article | 05/9/2015 |
| Data on Cav1.4 deficient mice and human female carriers of mutations in CACNA1F are consistent with a phenotype of mosaic congenital stationary night blindness type 2A. | Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.
Michalakis S, Shaltiel L, Sothilingam V, Koch S, Schludi V, Krause S, Zeitz C, Audo I, Lancelot ME, Hamel C, Meunier I, Preising MN, Friedburg C, Lorenz B, Zabouri N, Haverkamp S, Garcia Garrido M, Tanimoto N, Seeliger MW, Biel M, Wahl-Schott CA., Free PMC Article | 11/8/2014 |
| Mutation in Cav1.4 gene is associated with congenital stationary night blindness type 2. | Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2.
Burtscher V, Schicker K, Novikova E, Pöhn B, Stockner T, Kugler C, Singh A, Zeitz C, Lancelot ME, Audo I, Leroy BP, Freissmuth M, Herzig S, Matthes J, Koschak A., Free PMC Article | 08/9/2014 |
| Our data independently confirm CACNA1F as the causative gene for CORDX3-like phenotypes and detailed clinical characterization of the family expands the knowledge about the phenotypic spectrum of deleterious CACNA1F alterations. | A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.
Hauke J, Schild A, Neugebauer A, Lappa A, Fricke J, Fauser S, Rösler S, Pannes A, Zarrinnam D, Altmüller J, Motameny S, Nürnberg G, Nürnberg P, Hahnen E, Beck BB., Free PMC Article | 05/24/2014 |
| In 55 male patients with Congenital Stationary Night Blindness 2, we identified 26 pathogenic sequence changes in the CACNA1F gene. Seventeen of these were novel, 14 of these mutations were nonsense or frameshift mutations, and 3 were missense mutations. | Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.
Bijveld MM, Florijn RJ, Bergen AA, van den Born LI, Kamermans M, Prick L, Riemslag FC, van Schooneveld MJ, Kappers AM, van Genderen MM. | 11/23/2013 |
| Mutations in Ca(v)1.4 alpha1 are associated with X-linked retinal disorders. | What can naturally occurring mutations tell us about Ca(v)1.x channel function?
Stockner T, Koschak A., Free PMC Article | 07/13/2013 |