Cav1.4

1

Grabner CP et al. RIM1/2-Mediated Facilitation of Cav1.4 Channel Opening Is Required for Ca2+-Stimulated Release in Mouse Rod Photoreceptors.
J. Neurosci., 2015 Sep 23 , 35 (13133-47).

2

An J et al. Cacna1f gene decreased contractility of skeletal muscle in rat model with congenital stationary night blindness.
Gene, 2015 May 15 , 562 (210-9).

3

Berkowitz BA et al. Genetic dissection of horizontal cell inhibitory signaling in mice in complete darkness in vivo.
Invest. Ophthalmol. Vis. Sci., 2015 May , 56 (3132-9).

4

Bacchi N et al. A New Splicing Isoform of Cacna2d4 Mimicking the Effects of c.2451insC Mutation in the Retina: Novel Molecular and Electrophysiological Insights.
Invest. Ophthalmol. Vis. Sci., 2015 Jul , 56 (4846-56).

5

Lee A et al. Characterization of Cav1.4 complexes (α11.4, β2, and α2δ4) in HEK293T cells and in the retina.
J. Biol. Chem., 2015 Jan 16 , 290 (1505-21).

6

Xu Y et al. Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing.
Mol. Vis., 2015 , 21 (477-86).

7

Yang WC et al. Establishment and rapid detection of a heterozygous missense mutation in the CACNA1F gene by ARMS technique with double-base mismatched primers.
Genet. Mol. Res., 2015 , 14 (11480-7).

8

Kondo M et al. A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness.
PLoS ONE, 2015 , 10 (e0137072).

9

Wang CY et al. Meta-Analysis of Public Microarray Datasets Reveals Voltage-Gated Calcium Gene Signatures in Clinical Cancer Patients.
PLoS ONE, 2015 , 10 (e0125766).

10

Zhou Q et al. Identification of a novel heterozygous missense mutation in the CACNA1F gene in a chinese family with retinitis pigmentosa by next generation sequencing.
Biomed Res Int, 2015 , 2015 (907827).

11

Park S et al. Structural insights into activation of the retinal L-type Ca²⁺ channel (Cav1.4) by Ca²⁺-binding protein 4 (CaBP4).
J. Biol. Chem., 2014 Nov 7 , 289 (31262-73).

12

Michalakis S et al. Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.
Hum. Mol. Genet., 2014 Mar 15 , 23 (1538-50).

13

Jia S et al. Zebrafish Cacna1fa is required for cone photoreceptor function and synaptic ribbon formation.
Hum. Mol. Genet., 2014 Jun 1 , 23 (2981-94).

14

Burtscher V et al. Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2.
Biochim. Biophys. Acta, 2014 Aug , 1838 (2053-65).

15

Robert V et al. Protein kinase C-dependent activation of CaV1.2 channels selectively controls human TH2-lymphocyte functions.
J. Allergy Clin. Immunol., 2014 Apr , 133 (1175-83).

16

Regus-Leidig H et al. Photoreceptor degeneration in two mouse models for congenital stationary night blindness type 2.
PLoS ONE, 2014 , 9 (e86769).

17

Knoflach D et al. Cav1.4 IT mouse as model for vision impairment in human congenital stationary night blindness type 2.
Channels (Austin), 2013 Nov-Dec , 7 (503-13).

18

Liu X et al. Dysregulation of Ca(v)1.4 channels disrupts the maturation of photoreceptor synaptic ribbons in congenital stationary night blindness type 2.
Channels (Austin), 2013 Nov-Dec , 7 (514-23).

19

Hauke J et al. A novel large in-frame deletion within the CACNA1F gene associates with a cone-rod dystrophy 3-like phenotype.
PLoS ONE, 2013 , 8 (e76414).

20

Tao Y et al. Visual signal pathway reorganization in the Cacna1f mutant rat model.
Invest. Ophthalmol. Vis. Sci., 2013 , 54 (1988-97).

21

Huang L et al. Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.
PLoS ONE, 2013 , 8 (e65546).

22

Taiakina V et al. The calmodulin-binding, short linear motif, NSCaTE is conserved in L-type channel ancestors of vertebrate Cav1.2 and Cav1.3 channels.
PLoS ONE, 2013 , 8 (e61765).

23

An J et al. Behavioral phenotypic properties of a natural occurring rat model of congenital stationary night blindness with Cacna1f mutation.
J. Neurogenet., 2012 Sep , 26 (363-73).

24

Wang Q et al. Mutation screening of TRPM1, GRM6, NYX and CACNA1F genes in patients with congenital stationary night blindness.
Int. J. Mol. Med., 2012 Sep , 30 (521-6).

25

Vincent A et al. Outer retinal structural anomaly due to frameshift mutation in CACNA1F gene.
Eye (Lond), 2012 Sep , 26 (1278-80).

26

Shaltiel L et al. 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).
J. Biol. Chem., 2012 Oct 19 , 287 (36312-21).

27

Tan GM et al. Alternative Splicing at C Terminus of CaV1.4 Calcium Channel Modulates Calcium-dependent Inactivation, Activation Potential, and Current Density.
J. Biol. Chem., 2012 Jan 6 , 287 (832-47).

28

Lv C et al. High-resolution optical imaging of zebrafish larval ribbon synapse protein RIBEYE, RIM2, and CaV 1.4 by stimulation emission depletion microscopy.
Microsc. Microanal., 2012 Aug , 18 (745-52).

29

Xing W et al. Trafficking of presynaptic PMCA signaling complexes in mouse photoreceptors requires Cav1.4 α1 subunits.
Adv. Exp. Med. Biol., 2012 , 723 (739-44).

30

Krasnyĭ AM et al. [The expression of genes encoding the voltage-dependent L-type Ca2+ channels in proliferating and differentiating C2C12 myoblasts of mice].
Izv. Akad. Nauk. Ser. Biol., 2011 May-Jun , (349-53).

31

Vincent A et al. A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family.
Mol. Vis., 2011 , 17 (3262-70).

32

Lodha N et al. Congenital stationary night blindness in mice - a tale of two Cacna1f mutants.
Adv. Exp. Med. Biol., 2010 , 664 (549-58).

33

Griessmeier K et al. Calmodulin is a functional regulator of Cav1.4 L-type Ca2+ channels.
J. Biol. Chem., 2009 Oct 23 , 284 (29809-16).

34

Specht D et al. Effects of presynaptic mutations on a postsynaptic Cacna1s calcium channel colocalized with mGluR6 at mouse photoreceptor ribbon synapses.
Invest. Ophthalmol. Vis. Sci., 2009 Feb , 50 (505-15).

35

Zeitz C et al. Genotyping microarray for CSNB-associated genes.
Invest. Ophthalmol. Vis. Sci., 2009 Dec , 50 (5919-26).

36

Peloquin JB et al. Temperature dependence of Cav1.4 calcium channel gating.
Neuroscience, 2008 Feb 19 , 151 (1066-83).

37

Raven MA et al. Early afferent signaling in the outer plexiform layer regulates development of horizontal cell morphology.
J. Comp. Neurol., 2008 Feb 10 , 506 (745-58).

38

Gu Y et al. A naturally-occurring mutation in Cacna1f in a rat model of congenital stationary night blindness.
Mol. Vis., 2008 , 14 (20-8).

39

Doering CJ et al. Modified Ca(v)1.4 expression in the Cacna1f(nob2) mouse due to alternative splicing of an ETn inserted in exon 2.
PLoS ONE, 2008 , 3 (e2538).

40

Doering CJ et al. The Ca(v)1.4 calcium channel: more than meets the eye.
Channels (Austin), 2007 Jan-Feb , 1 (3-10).

41

Yu M et al. Attenuation of oscillatory potentials in nob2 mice.
, 2007 Nov , 115 (173-86).

42

Jalkanen R et al. A novel CACNA1F gene mutation causes Aland Island eye disease.
Invest. Ophthalmol. Vis. Sci., 2007 Jun , 48 (2498-502).

43

Bayley PR et al. Rod bipolar cells and horizontal cells form displaced synaptic contacts with rods in the outer nuclear layer of the nob2 retina.
J. Comp. Neurol., 2007 Jan 10 , 500 (286-98).

44

Peloquin JB et al. Functional analysis of congenital stationary night blindness type-2 CACNA1F mutations F742C, G1007R, and R1049W.
Neuroscience, 2007 Dec 5 , 150 (335-45).

45

Xiao H et al. Abundant L-type calcium channel Ca(v)1.3 (alpha1D) subunit mRNA is detected in rod photoreceptors of the mouse retina via in situ hybridization.
Mol. Vis., 2007 , 13 (764-71).

46

Chang B et al. The nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses.
Vis. Neurosci., 2006 Jan-Feb , 23 (11-24).

47

Wahl-Schott C et al. Switching off calcium-dependent inactivation in L-type calcium channels by an autoinhibitory domain.
Proc. Natl. Acad. Sci. U.S.A., 2006 Oct 17 , 103 (15657-62).

48

Zeitz C et al. Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness.
Am. J. Hum. Genet., 2006 Oct , 79 (657-67).

49

Hoda JC et al. Effects of congenital stationary night blindness type 2 mutations R508Q and L1364H on Cav1.4 L-type Ca2+ channel function and expression.
J. Neurochem., 2006 Mar , 96 (1648-58).

50

Wei J et al. A further study of a possible locus for schizophrenia on the X chromosome.
Biochem. Biophys. Res. Commun., 2006 Jun 16 , 344 (1241-5).

51

Jalkanen R et al. X linked cone-rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene.
J. Med. Genet., 2006 Aug , 43 (699-704).

52

Morgans CW et al. Photoreceptor calcium channels: insight from night blindness.
Vis. Neurosci., 2005 Sep-Oct , 22 (561-8).

53

Mansergh F et al. Mutation of the calcium channel gene Cacna1f disrupts calcium signaling, synaptic transmission and cellular organization in mouse retina.
Hum. Mol. Genet., 2005 Oct 15 , 14 (3035-46).

54

Doering CJ et al. Cav1.4 encodes a calcium channel with low open probability and unitary conductance.
Biophys. J., 2005 Nov , 89 (3042-8).

55

Hemara-Wahanui A et al. A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.
Proc. Natl. Acad. Sci. U.S.A., 2005 May 24 , 102 (7553-8).

56

Zeitz C et al. Novel mutations in CACNA1F and NYX in Dutch families with X-linked congenital stationary night blindness.
Mol. Vis., 2005 Mar 2 , 11 (179-83).

57

Hoda JC et al. 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.
J. Neurosci., 2005 Jan 5 , 25 (252-9).

58

Hope CI et al. 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.
Clin. Experiment. Ophthalmol., 2005 Apr , 33 (129-36).

59

Vigh J et al. L-type calcium channels mediate transmitter release in isolated, wide-field retinal amacrine cells.
Vis. Neurosci., 2004 Mar-Apr , 21 (129-34).

60

Haeseleer F et al. Essential role of Ca2+-binding protein 4, a Cav1.4 channel regulator, in photoreceptor synaptic function.
Nat. Neurosci., 2004 Oct , 7 (1079-87).

61

Nakamura M et al. [Molecular genetic study of congenital stationary night blindness]
Nippon Ganka Gakkai Zasshi, 2004 Nov , 108 (665-73).

62

McRory JE et al. The CACNA1F gene encodes an L-type calcium channel with unique biophysical properties and tissue distribution.
J. Neurosci., 2004 Feb 18 , 24 (1707-18).

63

Baumann L et al. Functional characterization of the L-type Ca2+ channel Cav1.4alpha1 from mouse retina.
Invest. Ophthalmol. Vis. Sci., 2004 Feb , 45 (708-13).

64

Allen LE et al. Genotype-phenotype correlation in British families with X linked congenital stationary night blindness.
Br J Ophthalmol, 2003 Nov , 87 (1413-20).

65

Jacobi FK et al. A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness.
Am. J. Ophthalmol., 2003 May , 135 (733-6).

66

Koschak A et al. Cav1.4alpha1 subunits can form slowly inactivating dihydropyridine-sensitive L-type Ca2+ channels lacking Ca2+-dependent inactivation.
J. Neurosci., 2003 Jul 9 , 23 (6041-9).

67

Nakamura M et al. Retinal and optic disc atrophy associated with a CACNA1F mutation in a Japanese family.
Arch. Ophthalmol., 2003 Jul , 121 (1028-33).

68

Zito I et al. Mutations in the CACNA1F and NYX genes in British CSNBX families.
Hum. Mutat., 2003 Feb , 21 (169).

69

Nakamura M et al. Incomplete congenital stationary night blindness associated with symmetrical retinal atrophy.
Am. J. Ophthalmol., 2002 Sep , 134 (463-5).

70

Pietrobon D Calcium channels and channelopathies of the central nervous system.
Mol. Neurobiol., 2002 Feb , 25 (31-50).

71

Wutz K et al. Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.
Eur. J. Hum. Genet., 2002 Aug , 10 (449-56).

72

Nakamura M et al. Novel CACNA1F mutations in Japanese patients with incomplete congenital stationary night blindness.
Invest. Ophthalmol. Vis. Sci., 2001 Jun , 42 (1610-6).

73

Boycott KM et al. A summary of 20 CACNA1F mutations identified in 36 families with incomplete X-linked congenital stationary night blindness, and characterization of splice variants.
Hum. Genet., 2001 Feb , 108 (91-7).

74

Morgans CW et al. Expression of the alpha1F calcium channel subunit by photoreceptors in the rat retina.
Mol. Vis., 2001 Aug 22 , 7 (202-9).

75

Naylor MJ et al. Isolation and characterization of a calcium channel gene, Cacna1f, the murine orthologue of the gene for incomplete X-linked congenital stationary night blindness.
Genomics, 2000 Jun 15 , 66 (324-7).

76

Boycott KM et al. Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F.
Can. J. Ophthalmol., 2000 Jun , 35 (204-13).

77

Strom TM et al. An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.
Nat. Genet., 1998 Jul , 19 (260-3).

78

Bech-Hansen NT et al. Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.
Nat. Genet., 1998 Jul , 19 (264-7).

79

Fisher SE et al. Sequence-based exon prediction around the synaptophysin locus reveals a gene-rich area containing novel genes in human proximal Xp.
Genomics, 1997 Oct 15 , 45 (340-7).