PMC Articles for MedGen (Select 376299) - PMC

Derek M. Waldner, Kenichi Ito, Li-Li Chen, Lisa Nguyen, Robert L. Chow, Amy Lee, Derrick E. Rancourt, Francois Tremblay, William K. Stell, N. Torben Bech-Hansen

Transl Vis Sci Technol. 2020 Oct; 9(11): 19. Published online 2020 Oct 14. doi: 10.1167/tvst.9.11.19

PMCID:: PMC7571326

Article PDF–5.0M

Select item 67251955.

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

Article PDF–327K

Select item 56405186.

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

Article PDF–4.1M

Select item 48261387.

Gain-of-function nature of Cav1.4 L-type calcium channels alters firing properties of mouse retinal ganglion cells

Dagmar Knoflach, Klaus Schicker, Martin Glösmann, Alexandra Koschak

Channels (Austin) 2015 Sep-Oct; 9(5): 298–306. Published online 2015 Aug 14. doi: 10.1080/19336950.2015.1078040

PMCID:: PMC4826138

Article PDF–796K

Select item 43771348.

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

Article PDF–2.0M

Select item 40655699.

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

Article

Select item 404248610.

Dysregulation of Ca_v1.4 channels disrupts the maturation of photoreceptor synaptic ribbons in congenital stationary night blindness type 2

Xiaoni Liu, Vasily Kerov, Françoise Haeseleer, Anurima Majumder, Nikolai Artemyev, Sheila A Baker, Amy Lee

Channels (Austin) 2013 Nov 1; 7(6): 514–523. Published online 2013 Sep 24. doi: 10.4161/chan.26376

PMCID:: PMC4042486

Article PDF–2.0M

Select item 389777811.

Photoreceptor Degeneration in Two Mouse Models for Congenital Stationary Night Blindness Type 2

Hanna Regus-Leidig, Jenny Atorf, Andreas Feigenspan, Jan Kremers, Marion A. Maw, Johann Helmut Brandstätter

PLoS One. 2014; 9(1): e86769. Published online 2014 Jan 21. doi: 10.1371/journal.pone.0086769

PMCID:: PMC3897778

Article PDF–12M

Select item 324448712.

A novel p.Gly603Arg mutation in CACNA1F causes Åland island eye disease and incomplete congenital stationary night blindness phenotypes in a family

Ajoy Vincent, Tom Wright, Megan A. Day, Carol A. Westall, Elise Héon

Mol Vis. 2011; 17: 3262–3270. Published online 2011 Dec 15.

PMCID:: PMC3244487

Article PDF–880K

Select item 288392513.

Channelopathies in Ca_v1.1, Ca_v1.3, and Ca_v1.4 voltage-gated L-type Ca²⁺ channels

Jörg Striessnig, Hanno Jörn Bolz, Alexandra Koschak

Pflugers Arch. 2010; 460(2): 361–374. Published online 2010 Mar 7. doi: 10.1007/s00424-010-0800-x

PMCID:: PMC2883925

Article PDF–724K

Select item 288377414.

Attenuation of oscillatory potentials in nob2 mice

Minzhong Yu, Neal S. Peachey

Doc Ophthalmol. Author manuscript; available in PMC 2010 Jun 11.

Published in final edited form as: Doc Ophthalmol. 2007 Nov; 115(3): 173–186. Published online 2007 May 4. doi: 10.1007/s10633-007-9058-9

PMCID:: PMC2883774

Article PDF–1.8M

Select item 283108615.

The nob2 mouse, a null mutation in Cacna1f: Anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses

BO CHANG, JOHN R. HECKENLIVELY, PHILIPPA R. BAYLEY, NICHOLAS C. BRECHA, MURIEL T. DAVISSON, NORM L. HAWES, ARLENE A. HIRANO, RONALD E. HURD, AKIHIRO IKEDA, BRITT A. JOHNSON, MAUREEN A. MCCALL, CATHERINE W. MORGANS, STEVE NUSINOWITZ, NEAL S. PEACHEY, DENNIS S. RICE, KIRSTAN A. VESSEY, RONALD G. GREGG

Vis Neurosci. Author manuscript; available in PMC 2010 Mar 2.

Published in final edited form as: Vis Neurosci. 2006 Jan–Feb; 23(1): 11–24. doi: 10.1017/S095252380623102X

PMCID:: PMC2831086

Article PDF–1.8M

Select item 276876116.

Abundant L-type calcium channel Ca_v1.3 (α1D) subunit mRNA is detected in rod photoreceptors of the mouse retina via in situ hybridization

Hailian Xiao, Xiaoming Chen, Ernest C. Steele, Jr

Mol Vis. 2007; 13: 764–771. Published online 2007 May 23.

PMCID:: PMC2768761

Article PDF–1.4M

Select item 256459517.

X linked cone‐rod dystrophy, CORDX3, is caused by a mutation in the CACNA1F gene

R Jalkanen, M Mäntyjärvi, R Tobias, J Isosomppi, E‐M Sankila, T Alitalo, N T Bech‐Hansen

J Med Genet. 2006 Aug; 43(8): 699–704. Published online 2006 Feb 27. doi: 10.1136/jmg.2006.040741

PMCID:: PMC2564595

Article PDF–357K

Select item 159256818.

Mutations in CABP4, the Gene Encoding the Ca²⁺-Binding Protein 4, Cause Autosomal Recessive Night Blindness

Christina Zeitz, Barbara Kloeckener-Gruissem, Ursula Forster, Susanne Kohl, István Magyar, Bernd Wissinger, Gábor Mátyás, François-Xavier Borruat, Daniel F. Schorderet, Eberhart Zrenner, Francis L. Munier, Wolfgang Berger

Am J Hum Genet. 2006 Oct; 79(4): 657–667. Published online 2006 Aug 23. doi: 10.1086/508067

PMCID:: PMC1592568

Article PDF–2.1M

Select item 137702119.

Evidence for genetic heterogeneity in X-linked congenital stationary night blindness.

K M Boycott, W G Pearce, M A Musarella, R G Weleber, T A Maybaum, D G Birch, Y Miyake, R S Young, N T Bech-Hansen

Am J Hum Genet. 1998 Apr; 62(4): 865–875. doi: 10.1086/301781

PMCID:: PMC1377021

Summary PDF–323K

Select item 135216120.

Essential role of Ca²⁺-binding protein 4, a Ca_v1.4 channel regulator, in photoreceptor synaptic function

Françoise Haeseleer, Yoshikazu Imanishi, Tadao Maeda, Daniel E Possin, Akiko Maeda, Amy Lee, Fred Rieke, Krzysztof Palczewski

Nat Neurosci. Author manuscript; available in PMC 2006 Jan 27.

Published in final edited form as: Nat Neurosci. 2004 Oct; 7(10): 1079–1087. Published online 2004 Sep 26. doi: 10.1038/nn1320

PMCID:: PMC1352161

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