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Times Co-cited
Similarity
An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.
T M Strom, G Nyakatura, E Apfelstedt-Sylla, H Hellebrand, B Lorenz, B H Weber, K Wutz, N Gutwillinger, K Rüther, B Drescher,[...]. Nat Genet 1998
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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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Congenital stationary night blindness with negative electroretinogram. A new classification.
Y Miyake, K Yagasaki, M Horiguchi, Y Kawase, T Kanda. Arch Ophthalmol 1986
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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,[...]. Am J Hum Genet 2006
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Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.
Katharina Agnes Wycisk, Christina Zeitz, Silke Feil, Mariana Wittmer, Ursula Forster, John Neidhardt, Bernd Wissinger, Eberhart Zrenner, Robert Wilke, Susanne Kohl,[...]. Am J Hum Genet 2006
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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.
Xiaoni Liu, Vasily Kerov, Françoise Haeseleer, Anurima Majumder, Nikolai Artemyev, Sheila A Baker, Amy Lee. Channels (Austin) 2013
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Congenital stationary night blindness: an analysis and update of genotype-phenotype correlations and pathogenic mechanisms.
Christina Zeitz, Anthony G Robson, Isabelle Audo. Prog Retin Eye Res 2015
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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
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Essential role of Ca2+-binding protein 4, a Cav1.4 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 2004
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Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.
N T Bech-Hansen, M J Naylor, T A Maybaum, R L Sparkes, B Koop, D G Birch, A A Bergen, C F Prinsen, R C Polomeno, A Gal,[...]. Nat Genet 2000
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The nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses.
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The complete form of X-linked congenital stationary night blindness is caused by mutations in a gene encoding a leucine-rich repeat protein.
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The CACNA1F gene encodes an L-type calcium channel with unique biophysical properties and tissue distribution.
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Structural and functional abnormalities of retinal ribbon synapses due to Cacna2d4 mutation.
Katharina A Wycisk, Birgit Budde, Silke Feil, Sergej Skosyrski, Francesca Buzzi, John Neidhardt, Esther Glaus, Peter Nürnberg, Klaus Ruether, Wolfgang Berger. Invest Ophthalmol Vis Sci 2006
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Cav1.4 IT mouse as model for vision impairment in human congenital stationary night blindness type 2.
Dagmar Knoflach, Vasily Kerov, Simone B Sartori, Gerald J Obermair, Claudia Schmuckermair, Xiaoni Liu, Vithiyanjali Sothilingam, Marina Garcia Garrido, Sheila A Baker, Martin Glösmann,[...]. Channels (Austin) 2013
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Localization of the alpha(1F) calcium channel subunit in the rat retina.
C W Morgans. Invest Ophthalmol Vis Sci 2001
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A novel CACNA1F gene mutation causes Aland Island eye disease.
Reetta Jalkanen, N Torben Bech-Hansen, Rose Tobias, Eeva-Marja Sankila, Maija Mäntyjärvi, Henrik Forsius, Albert de la Chapelle, Tiina Alitalo. Invest Ophthalmol Vis Sci 2007
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TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness.
Isabelle Audo, Susanne Kohl, Bart P Leroy, Francis L Munier, Xavier Guillonneau, Saddek Mohand-Saïd, Kinga Bujakowska, Emeline F Nandrot, Birgit Lorenz, Markus Preising,[...]. Am J Hum Genet 2009
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Role of the beta(2) subunit of voltage-dependent calcium channels in the retinal outer plexiform layer.
Sherry L Ball, Patricia A Powers, Hee-Sup Shin, Catherine W Morgans, Neal S Peachey, Ronald G Gregg. Invest Ophthalmol Vis Sci 2002
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Thirty distinct CACNA1F mutations in 33 families with incomplete type of XLCSNB and Cacna1f expression profiling in mouse retina.
Krisztina Wutz, Christian Sauer, Eberhart Zrenner, Birgit Lorenz, Tiina Alitalo, Martina Broghammer, Martin Hergersberg, Albert de la Chapelle, Bernhard H F Weber, Bernd Wissinger,[...]. Eur J Hum Genet 2002
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A CACNA1F mutation identified in an X-linked retinal disorder shifts the voltage dependence of Cav1.4 channel activation.
Ariana Hemara-Wahanui, Stanislav Berjukow, Carolyn I Hope, Peter K Dearden, Shu-Biao Wu, Jane Wilson-Wheeler, Dianne M Sharp, Patricia Lundon-Treweek, Gillian M Clover, Jean-Charles Hoda,[...]. Proc Natl Acad Sci U S A 2005
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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.
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Calcium channel-dependent molecular maturation of photoreceptor synapses.
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Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.
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C-terminal modulator controls Ca2+-dependent gating of Ca(v)1.4 L-type Ca2+ channels.
Anamika Singh, Daniel Hamedinger, Jean-Charles Hoda, Mathias Gebhart, Alexandra Koschak, Christoph Romanin, Jörg Striessnig. Nat Neurosci 2006
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Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6.
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Mutations in TRPM1 are a common cause of complete congenital stationary night blindness.
Maria M van Genderen, Mieke M C Bijveld, Yvonne B Claassen, Ralph J Florijn, Jillian N Pearring, Francoise M Meire, Maureen A McCall, Frans C C Riemslag, Ronald G Gregg, Arthur A B Bergen,[...]. Am J Hum Genet 2009
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Effects of presynaptic mutations on a postsynaptic Cacna1s calcium channel colocalized with mGluR6 at mouse photoreceptor ribbon synapses.
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Early afferent signaling in the outer plexiform layer regulates development of horizontal cell morphology.
Mary A Raven, Noelle C Orton, Hadi Nassar, Gary A Williams, William K Stell, Gerald H Jacobs, N Torben Bech-Hansen, Benjamin E Reese. J Comp Neurol 2008
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Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.
Christina Zeitz, Samuel G Jacobson, Christian P Hamel, Kinga Bujakowska, Marion Neuillé, Elise Orhan, Xavier Zanlonghi, Marie-Elise Lancelot, Christelle Michiels, Sharon B Schwartz,[...]. Am J Hum Genet 2013
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Alternative splicing at C terminus of Ca(V)1.4 calcium channel modulates calcium-dependent inactivation, activation potential, and current density.
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Gregory Ming Yeong Tan, Dejie Yu, Juejin Wang, Tuck Wah Soong. J Biol Chem 2012
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Switching off calcium-dependent inactivation in L-type calcium channels by an autoinhibitory domain.
Christian Wahl-Schott, Ludwig Baumann, Hartmut Cuny, Christian Eckert, Kristina Griessmeier, Martin Biel. Proc Natl Acad Sci U S A 2006
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Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F.
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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.
K M Boycott, T A Maybaum, M J Naylor, R G Weleber, J Robitaille, Y Miyake, A A Bergen, M E Pierpont, W G Pearce, N T Bech-Hansen. Hum Genet 2001
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Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.
Zheng Li, Panagiotis I Sergouniotis, Michel Michaelides, Donna S Mackay, Genevieve A Wright, Sophie Devery, Anthony T Moore, Graham E Holder, Anthony G Robson, Andrew R Webster. Am J Hum Genet 2009
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Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness.
Isabelle Audo, Kinga Bujakowska, Elise Orhan, Charlotte M Poloschek, Sabine Defoort-Dhellemmes, Isabelle Drumare, Susanne Kohl, Tien D Luu, Odile Lecompte, Eberhart Zrenner,[...]. Am J Hum Genet 2012
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GPR179 is required for depolarizing bipolar cell function and is mutated in autosomal-recessive complete congenital stationary night blindness.
Neal S Peachey, Thomas A Ray, Ralph Florijn, Lucy B Rowe, Trijntje Sjoerdsma, Susana Contreras-Alcantara, Kenkichi Baba, Gianluca Tosini, Nikita Pozdeyev, P Michael Iuvone,[...]. Am J Hum Genet 2012
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TRPM1 is a component of the retinal ON bipolar cell transduction channel in the mGluR6 cascade.
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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
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Congenital deafness and sinoatrial node dysfunction in mice lacking class D L-type Ca2+ channels.
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Cav1.4alpha1 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
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A method and server for predicting damaging missense mutations.
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Mutations in GRM6 cause autosomal recessive congenital stationary night blindness with a distinctive scotopic 15-Hz flicker electroretinogram.
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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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Functional characterization of the L-type Ca2+ channel Cav1.4alpha1 from mouse retina.
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Characterization of Cav1.4 complexes (α11.4, β2, and α2δ4) in HEK293T cells and in the retina.
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A role for nyctalopin, a small leucine-rich repeat protein, in localizing the TRP melastatin 1 channel to retinal depolarizing bipolar cell dendrites.
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Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2.
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Neuronal Ca(V)1.3alpha(1) L-type channels activate at relatively hyperpolarized membrane potentials and are incompletely inhibited by dihydropyridines.
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Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.