| 1 | CACNA1F, CSNB2A
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| Congenital stationary night blindness associated with morning glory disc malformation: a novel hemizygous mutation in CACNA1F.
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| Abdelkader E, AlHilali S, Neuhaus C, Bergmann C, AlMurshed T, Schatz P.
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| Ophthalmic Genet 39(5):659-661. doi: 10.1080/13816810.2018.1498526. Epub 2018 Aug 1. No abstract available.
2018
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| 2 | CACNA1F, CSNB2A
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| Cone dystrophy and ectopic synaptogenesis in a Cacna1f loss of function model of congenital stationary night blindness (CSNB2A).
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| Waldner DM, Giraldo Sierra NC, Bonfield S, Nguyen L, Dimopoulos IS, Sauvé Y, Stell WK, Bech-Hansen NT.
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| Channels (Austin) 12(1):17-33. doi: 10.1080/19336950.2017.1401688. Epub 2018 Jan 2.
2018
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| 3 | AIED, CACNA1F
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| Clinical Characteristics, Mutation Spectrum, and Prevalence of Åland Eye Disease/Incomplete Congenital Stationary Night Blindness in Denmark.
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| Hove MN, Kilic-Biyik KZ, Trotter A, Grønskov K, Sander B, Larsen M, Carroll J, Bech-Hansen T, Rosenberg T.
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| Invest Ophthalmol Vis Sci 57(15):6861-6869. doi: 10.1167/iovs.16-19445.
2016
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| 4 | CACNA1F
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| Characterization of C-terminal Splice Variants of Cav1.4 Ca2+ Channels in Human Retina.
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| Haeseleer F, Williams B, Lee A.
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| J Biol Chem 291(30):15663-73. doi: 10.1074/jbc.M116.731737. Epub 2016 May 17.
2016
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| 5 | CACNA1F
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| Cacna1f gene decreased contractility of skeletal muscle in rat model with congenital stationary night blindness.
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| An J, Zhang L, Jiao B, Lu F, Xia F, Yu Z, Zhang Z.
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| Gene 562(2):210-9. doi: 10.1016/j.gene.2015.02.073. Epub 2015 Mar 4.
2015
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| 6 | CABP4, CACNA1F
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| Structural insights into activation of the retinal L-type Ca²⁺ channel (Cav1.4) by Ca²⁺-binding protein 4 (CaBP4).
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| Park S, Li C, Haeseleer F, Palczewski K, Ames JB.
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| J Biol Chem 289(45):31262-73. doi: 10.1074/jbc.M114.604439. Epub 2014 Sep 25.
2014
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| 7 | CACNA1F, CSNB2A
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| Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2.
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| 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.
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| Biochim Biophys Acta 1838(8):2053-65. doi: 10.1016/j.bbamem.2014.04.023. Epub 2014 May 4.
2014
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| 8 | CACNA1F
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| Dysregulation of Ca(v)1.4 channels disrupts the maturation of photoreceptor synaptic ribbons in congenital stationary night blindness type 2.
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| Liu X, Kerov V, Haeseleer F, Majumder A, Artemyev N, Baker SA, Lee A.
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| Channels (Austin) 7(6):514-23. doi: 10.4161/chan.26376. Epub 2013 Sep 24.
2013
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| 9 | CACNA1F, CORDX3
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| A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.
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| 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.
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| PLoS One 8(10):e76414. doi: 10.1371/journal.pone.0076414. eCollection 2013.
2013
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| 10 | CACNA1F
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| Calcium channel-dependent molecular maturation of photoreceptor synapses.
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| Zabouri N, Haverkamp S.
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| PLoS One 8(5):e63853. doi: 10.1371/journal.pone.0063853. Print 2013.
2013
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| 11 | CABP4, CACNA1F
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| Complex regulation of voltage-dependent activation and inactivation properties of retinal voltage-gated Cav1.4 L-type Ca2+ channels by Ca2+-binding protein 4 (CaBP4).
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| Shaltiel L, Paparizos C, Fenske S, Hassan S, Gruner C, Rötzer K, Biel M, Wahl-Schott CA.
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| J Biol Chem 287(43):36312-21. doi: 10.1074/jbc.M112.392811. Epub 2012 Aug 30.
2012
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| 12 | AIED, CACNA1F
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| A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.
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| Vincent A, Wright T, Day MA, Westall CA, Héon E.
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| Mol Vis 17:3262-70. Epub 2011 Dec 15.
2011
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| 13 | CACNA1F
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| The Ca(v)1.4 calcium channel is a critical regulator of T cell receptor signaling and naive T cell homeostasis.
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| Omilusik K, Priatel JJ, Chen X, Wang YT, Xu H, Choi KB, Gopaul R, McIntyre-Smith A, Teh HS, Tan R, Bech-Hansen NT, Waterfield D, Fedida D, Hunt SV, Jefferies WA.
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| Immunity 35(3):349-60. doi: 10.1016/j.immuni.2011.07.011. Epub 2011 Aug 11.
2011
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| 14 | CACNA1F
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| Calmodulin is a functional regulator of Cav1.4 L-type Ca2+ channels.
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| Griessmeier K, Cuny H, Rötzer K, Griesbeck O, Harz H, Biel M, Wahl-Schott C.
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| J Biol Chem. 284(43):29809-16. 2009
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| 15 | CACNA1F
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| Temperature dependence of Cav1.4 calcium channel gating.
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| Peloquin JB, Doering CJ, Rehak R, McRory JE.
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| Neuroscience 151(4):1066-83. doi: 10.1016/j.neuroscience.2007.11.053. Epub 2007 Dec 8.
2008
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| 16 | AIED,CACNA1F
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| A novel CACNA1F gene mutation causes Aland Island eye disease.
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| Jalkanen R, Bech-Hansen NT, Tobias R, Sankila EM, Mantyjarvi M, Forsius H, de la Chapelle A, Alitalo T.
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| Invest Ophthalmol Vis Sci 48(6):2498-502. 2007
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| 17 | ACHM2, ACHM3, ACHM4, CABP4, CACNA1F, CNGA3, CNGB3, CRSD, CSNB10, CSNB1A, CSNB1B, CSNB2A, CSNB2B, ESCS, GNAT2, GRM6, NR2E3, NYX
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| Molecular genetics of infantile-onset retinal dystrophies.
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| Moradi P, Moore AT.
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| Eye 21(10):1344-51. 2007
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| 18 | CORDX3, CACNA1F
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| X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene.
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| Jalkanen R, Mantyjarvi M, Tobias R, Isosomppi J, Sankila EM, Alitalo T, Bech-Hansen NT.
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| J Med Genet 43(8):699-704. Epub 2006 Feb 27. 2006
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| 19 | CACNA1F
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| C-terminal modulator controls Ca2+-dependent gating of Ca(v)1.4 L-type Ca2+ channels.
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| Singh A, Hamedinger D, Hoda JC, Gebhart M, Koschak A, Romanin C, Striessnig J.
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| Nat Neurosci. 9(9):1108-16 2006
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| 20 | CACNA1F
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| Switching off calcium-dependent inactivation in L-type calcium channels by an autoinhibitory domain.
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| Wahl-Schott C, Baumann L, Cuny H, Eckert C, Griessmeier K, Biel M.
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| Proc Natl Acad Sci U S A. 103(42):15657-62. 2006
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| 21 | CACNA1F, CSNB2A
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| Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina.
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| Mansergh F, Orton NC, Vessey JP, Lalonde MR, Stell WK, Tremblay F, Barnes S, Rancourt DE, Bech-Hansen NT.
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| Hum Mol Genet 14(20):3035-46. Epub 2005 Sep 9. 2005
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| 22 | CACNA1F, CSNB2A
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| 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.
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| Hoda JC, Zaghetto F, Koschak A, Striessnig J.
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| J Neurosci 25(1):252-9. 2005
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| 23 | CACNA1F, CSNB2A
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| A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.
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| Hemara-Wahanui A, Berjukow S, Hope CI, Dearden PK, Wu SB, Wilson-Wheeler J, Sharp DM, Lundon-Treweek P, Clover GM, Hoda JC, Striessnig J, Marksteiner R, Hering S, Maw MA.
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| Proc Natl Acad Sci U S A 102(21):7553-8. Epub 2005 May 16. 2005
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| 24 | CACNA1F, CSNB2A
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| The CACNA1F gene encodes an L-type calcium channel with unique biophysical properties and tissue distribution.
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| McRory JE, Hamid J, Doering CJ, Garcia E, Parker R, Hamming K, Chen L, Hildebrand M, Beedle AM, Feldcamp L, Zamponi GW, Snutch TP.
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| J Neurosci 24(7):1707-18. 2004
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| 25 | CABP4, CACNA1F, CRSD, CSNB2B
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| Essential role of Ca2+-binding protein 4, a Cav1.4 channel regulator, in photoreceptor synaptic function.
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| Haeseleer F, Imanishi Y, Maeda T, Possin DE, Maeda A, Lee A, Rieke F, Palczewski K.
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| Nat Neurosci. 7(10):1079-87 2004
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| 26 | CACNA1F
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| A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness.
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| Jacobi FK, Hamel CP, Arnaud B, Blin N, Broghammer M, Jacobi PC, Apfelstedt-Sylla E, Pusch CM.
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| Am J Ophthalmol 135(5):733-6. 2003
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| 27 | CACNA1F, CSNB2A
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| Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family.
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| Nakamura M, Ito S, Piao CH, Terasaki H, Miyake Y.
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| Arch Ophthalmol 121(7):1028-33. 2003
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| 28 | CACNA1F
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| Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.
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| Wutz K, Sauer C, Zrenner E, Lorenz B, Alitalo T, Broghammer M, Hergersberg M, Chapelle Ade L, Weber BH, Wissinger B, Meindl A, Pusch CM.
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| Eur J Hum Genet 10(8):449-56. 2002
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| 29 | CACNA1F, CSNB2A
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| A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.
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| Boycott KM, Maybaum TA, Naylor MJ, Weleber RG, Robitaille J, Miyake Y, Bergen AA, Pierpont ME, Pearce WG, Bech-Hansen NT.
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| Hum Genet 108(2):91-7. 2001
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| 30 | CACNA1F
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| Isolation and characterization of a calcium channel gene, Cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness.
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| Naylor, M. J., Rancourt, D. E., Bech-Hansen, N. T.
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| Genomics 66: 324-327 2000
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| 31 | CACNA1F, CSNB2A
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| Loss-of-function mutations in a calcium-channel alpha 1 -subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.
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| Bech-Hansen NT, et al.
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| Nat Genet 19 : 264-267. 1998
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| 32 | CACNA1F, CSNB2A
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| An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.
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| Strom TM, et al.
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| Nat Genet 19 : 260-263. 1998
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| 33 | CACNA1F, PRICKLE3, SYP, PLP2
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| Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp.
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| Fisher SE, Ciccodicola A, Tanaka K, Curci A, Desicato S, D'urso M, Craig IW.
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| Genomics 45(2):340-7. 1997
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