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Select item 96516011.

Identification of a novel CACNA1F mutation in a Chinese family with CORDX3

Meng Du, Yang Li, Panpan Zheng, Liang Zhong, Weili Zhao, Yuxin Zhang, Haiyan Gu, Xue Li, Zanchao Liu

Mol Genet Genomic Med. 2022 Nov; 10(11): e2060. Published online 2022 Sep 27. doi: 10.1002/mgg3.2060

PMCID:: PMC9651601

Abstract Article PDF–2.5M

Select item 79961802.

Optic Atrophy and Inner Retinal Thinning in CACNA1F-Related Congenital Stationary Night Blindness

Kate E Leahy, Tom Wright, Monika K Grudzinska Pechhacker, Isabelle Audo, Anupreet Tumber, Erika Tavares, Heather MacDonald, Jeff Locke, Cynthia VandenHoven, Christina Zeitz, Elise Heon, J Raymond Buncic, Ajoy Vincent

Genes (Basel) 2021 Mar; 12(3): 330. Published online 2021 Feb 25. doi: 10.3390/genes12030330

PMCID:: PMC7996180

Abstract Article PDF–7.6M

Select item 79117953.

A Novel Splice-Site Variant in CACNA1F Causes a Phenotype Synonymous with Åland Island Eye Disease and Incomplete Congenital Stationary Night Blindness

Usman Mahmood, Cécile Méjécase, Syed M. A. Ali, Mariya Moosajee, Igor Kozak

Genes (Basel) 2021 Feb; 12(2): 171. Published online 2021 Jan 27. doi: 10.3390/genes12020171

PMCID:: PMC7911795

Abstract Article PDF–3.2M

Select item 78638914.

Functional impact of a congenital stationary night blindness type 2 mutation depends on subunit composition of Ca_v1.4 Ca²⁺ channels

Brittany Williams, Josue A. Lopez, J. Wesley Maddox, Amy Lee

J Biol Chem. 2020 Dec 11; 295(50): 17215–17226. Published online 2020 Oct 8. doi: 10.1074/jbc.RA120.014138

PMCID:: PMC7863891

Abstract Article PDF–4.4M

Select item 67403415.

Ca_v1.4α1 Subunits Can Form Slowly Inactivating Dihydropyridine-Sensitive L-Type Ca²⁺ Channels Lacking Ca²⁺-Dependent Inactivation

Alexandra Koschak, Daniel Reimer, Doris Walter, Jean-Charles Hoda, Thomas Heinzle, Manfred Grabner, Jörg Striessnig

J Neurosci. 2003 Jul 9; 23(14): 6041–6049. doi: 10.1523/JNEUROSCI.23-14-06041.2003

PMCID:: PMC6740341

Abstract Article PDF–431K

Select item 67304606.

The CACNA1F Gene Encodes an L-Type Calcium Channel with Unique Biophysical Properties and Tissue Distribution

John E. McRory, Jawed Hamid, Clinton J. Doering, Esperanza Garcia, Robin Parker, Kevin Hamming, Lina Chen, Michael Hildebrand, Aaron M. Beedle, Laura Feldcamp, Gerald W. Zamponi, Terrance P. Snutch

J Neurosci. 2004 Feb 18; 24(7): 1707–1718. doi: 10.1523/JNEUROSCI.4846-03.2004

PMCID:: PMC6730460

Abstract Article PDF–905K

Select item 67251957.

Congenital Stationary Night Blindness Type 2 Mutations S229P, G369D, L1068P, and W1440X Alter Channel Gating or Functional Expression of Ca_v1.4 L-type Ca²⁺ Channels

Jean-Charles Hoda, Francesca Zaghetto, Alexandra Koschak, Jörg Striessnig

J Neurosci. 2005 Jan 5; 25(1): 252–259. doi: 10.1523/JNEUROSCI.3054-04.2005

PMCID:: PMC6725195

Abstract Article PDF–327K

Select item 62793608.

Splicing of an automodulatory domain in Ca_v1.4 Ca²⁺ channels confers distinct regulation by calmodulin

Brittany Williams, Françoise Haeseleer, Amy Lee

J Gen Physiol. 2018 Dec 3; 150(12): 1676–1687. doi: 10.1085/jgp.201812140

PMCID:: PMC6279360

Abstract Article PDF–2.6M

Select item 56405189.

The importance of genetic testing as demonstrated by two cases of CACNA1F-associated retinal generation misdiagnosed as LCA

Clara J. Men, Kinga M. Bujakowska, Jason Comander, Emily Place, Emma C. Bedoukian, Xiaosong Zhu, Bart P. Leroy, Anne B. Fulton, Eric A. Pierce

Mol Vis. 2017; 23: 695–706. Published online 2017 Oct 10.

PMCID:: PMC5640518

Abstract Article PDF–4.1M

Select item 444992610.

Identification of a Novel Heterozygous Missense Mutation in the CACNA1F Gene in a Chinese Family with Retinitis Pigmentosa by Next Generation Sequencing

Qi Zhou, Jingliang Cheng, Weichan Yang, Mousumi Tania, Hui Wang, Md. Asaduzzaman Khan, Chengxia Duan, Li Zhu, Rui Chen, Hongbin Lv, Junjiang Fu

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

PMCID:: PMC4449926

Abstract Article PDF–3.0M

Select item 437713411.

Autofluorescence Imaging and Spectral-Domain Optical Coherence Tomography in Incomplete Congenital Stationary Night Blindness and Comparison with Retinitis Pigmentosa

ROYCE W. S. CHEN, JONATHAN P. GREENBERG, MARGOT A. LAZOW, RITHU RAMACHANDRAN, LUIZ H. LIMA, JOHN C. HWANG, CARL SCHUBERT, ALEXANDRA BRAUNSTEIN, RANDO ALLIKMETS, STEPHEN H. TSANG

Am J Ophthalmol. Author manuscript; available in PMC 2015 Mar 29.

Published in final edited form as: Am J Ophthalmol. 2012 Jan; 153(1): 143–54.e2. Published online 2011 Sep 13. doi: 10.1016/j.ajo.2011.06.018

PMCID:: PMC4377134

Abstract Article PDF–2.0M

Select item 406556912.

Spectrum of Cav1.4 dysfunction in congenital stationary night blindness type 2

Verena Burtscher, Klaus Schicker, Elena Novikova, Birgit Pöhn, Thomas Stockner, Christof Kugler, Anamika Singh, Christina Zeitz, Marie-Elise Lancelot, Isabelle Audo, Bart Peter Leroy, Michael Freissmuth, Stefan Herzig, Jan Matthes, Alexandra Koschak

Biochim Biophys Acta. 2014 Aug; 1838(8): 2053–2065. doi: 10.1016/j.bbamem.2014.04.023

PMCID:: PMC4065569

Abstract Article

Select item 379067913.

A Novel Large In-Frame Deletion within the CACNA1F Gene Associates with a Cone-Rod Dystrophy 3-Like Phenotype

Jan Hauke, Andrea Schild, Antje Neugebauer, Alexandra Lappa, Julia Fricke, Sascha Fauser, Stefanie Rösler, Andrea Pannes, Dirk Zarrinnam, Janine Altmüller, Susanne Motameny, Gudrun Nürnberg, Peter Nürnberg, Eric Hahnen, Bodo B. Beck

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