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Items: 1 to 20 of 24

1.

Exome Sequencing on 298 Probands With Early-Onset High Myopia: Approximately One-Fourth Show Potential Pathogenic Mutations in RetNet Genes.

Sun W, Huang L, Xu Y, Xiao X, Li S, Jia X, Gao B, Wang P, Guo X, Zhang Q.

Invest Ophthalmol Vis Sci. 2015 Dec;56(13):8365-72. doi: 10.1167/iovs.15-17555.

PMID:
26747767
2.

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.

Genet Mol Res. 2015 Sep 25;14(3):11480-7. doi: 10.4238/2015.September.25.14.

3.

RIM1/2-Mediated Facilitation of Cav1.4 Channel Opening Is Required for Ca2+-Stimulated Release in Mouse Rod Photoreceptors.

Grabner CP, Gandini MA, Rehak R, Le Y, Zamponi GW, Schmitz F.

J Neurosci. 2015 Sep 23;35(38):13133-47. doi: 10.1523/JNEUROSCI.0658-15.2015.

4.

A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness.

Kondo M, Das G, Imai R, Santana E, Nakashita T, Imawaka M, Ueda K, Ohtsuka H, Sakai K, Aihara T, Kato K, Sugimoto M, Ueno S, Nishizawa Y, Aguirre GD, Miyadera K.

PLoS One. 2015 Sep 14;10(9):e0137072. doi: 10.1371/journal.pone.0137072. eCollection 2015.

5.

A New Splicing Isoform of Cacna2d4 Mimicking the Effects of c.2451insC Mutation in the Retina: Novel Molecular and Electrophysiological Insights.

Bacchi N, Messina A, Burtscher V, Dassi E, Provenzano G, Bozzi Y, Demontis GC, Koschak A, Denti MA, Casarosa S.

Invest Ophthalmol Vis Sci. 2015 Jul;56(8):4846-56. doi: 10.1167/iovs.15-16410.

PMID:
26218913
6.

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.

Biomed Res Int. 2015;2015:907827. doi: 10.1155/2015/907827. Epub 2015 May 17.

7.

Mutation analysis in 129 genes associated with other forms of retinal dystrophy in 157 families with retinitis pigmentosa based on exome sequencing.

Xu Y, Guan L, Xiao X, Zhang J, Li S, Jiang H, Jia X, Yang J, Guo X, Yin Y, Wang J, Zhang Q.

Mol Vis. 2015 Apr 28;21:477-86. eCollection 2015.

8.

Cacna1f gene decreased contractility of skeletal muscle in rat model with congenital stationary night blindness.

An J, Zhang L, Jiao B, Lu F, Xia F, Yu Z, Zhang Z.

Gene. 2015 May 15;562(2):210-9. doi: 10.1016/j.gene.2015.02.073. Epub 2015 Mar 4.

PMID:
25748727
9.

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.

J Biol Chem. 2015 Jan 16;290(3):1505-21. doi: 10.1074/jbc.M114.607465. Epub 2014 Dec 2.

10.

Structural insights into activation of the retinal L-type Ca²⁺ channel (Cav1.4) by Ca²⁺-binding protein 4 (CaBP4).

Park S, Li C, Haeseleer F, Palczewski K, Ames JB.

J Biol Chem. 2014 Nov 7;289(45):31262-73. doi: 10.1074/jbc.M114.604439. Epub 2014 Sep 25.

11.

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.

Biochim Biophys Acta. 2014 Aug;1838(8):2053-65. doi: 10.1016/j.bbamem.2014.04.023. Epub 2014 May 4.

12.

Protein kinase C-dependent activation of CaV1.2 channels selectively controls human TH2-lymphocyte functions.

Robert V, Triffaux E, Paulet PE, Guéry JC, Pelletier L, Savignac M.

J Allergy Clin Immunol. 2014 Apr;133(4):1175-83. doi: 10.1016/j.jaci.2013.10.038. Epub 2013 Dec 22.

PMID:
24365142
13.

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.

Hum Mol Genet. 2014 Mar 15;23(6):1538-50. doi: 10.1093/hmg/ddt541. Epub 2013 Oct 26.

14.

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.

PLoS One. 2013 Oct 4;8(10):e76414. doi: 10.1371/journal.pone.0076414. eCollection 2013.

15.

Cav1.4 IT mouse as model for vision impairment in human congenital stationary night blindness type 2.

Knoflach D, Kerov V, Sartori SB, Obermair GJ, Schmuckermair C, Liu X, Sothilingam V, Garcia Garrido M, Baker SA, Glösmann M, Schicker K, Seeliger M, Lee A, Koschak A.

Channels (Austin). 2013 Nov-Dec;7(6):503-13. doi: 10.4161/chan.26368. Epub 2013 Sep 19.

16.

Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.

Huang L, Zhang Q, Li S, Guan L, Xiao X, Zhang J, Jia X, Sun W, Zhu Z, Gao Y, Yin Y, Wang P, Guo X, Wang J, Zhang Q.

PLoS One. 2013 Jun 11;8(6):e65546. doi: 10.1371/journal.pone.0065546. Print 2013.

17.

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.

Ophthalmology. 2013 Oct;120(10):2072-81. doi: 10.1016/j.ophtha.2013.03.002. Epub 2013 May 25.

PMID:
23714322
18.

The calmodulin-binding, short linear motif, NSCaTE is conserved in L-type channel ancestors of vertebrate Cav1.2 and Cav1.3 channels.

Taiakina V, Boone AN, Fux J, Senatore A, Weber-Adrian D, Guillemette JG, Spafford JD.

PLoS One. 2013 Apr 23;8(4):e61765. doi: 10.1371/journal.pone.0061765. Print 2013. Erratum in: PLoS One. 2014;9(1). doi:10.1371/annotation/7fc1cd8d-1eeb-4ab7-929b-96529cab1c1f.

19.

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).

Shaltiel L, Paparizos C, Fenske S, Hassan S, Gruner C, Rötzer K, Biel M, Wahl-Schott CA.

J Biol Chem. 2012 Oct 19;287(43):36312-21. doi: 10.1074/jbc.M112.392811. Epub 2012 Aug 30.

20.

Outer retinal structural anomaly due to frameshift mutation in CACNA1F gene.

Vincent A, Héon E.

Eye (Lond). 2012 Sep;26(9):1278-80. doi: 10.1038/eye.2012.125. Epub 2012 Jun 29. No abstract available.

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