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, C Sauer, E Zrenner, T Meitinger, A Rosenthal, A Meindl. Nat Genet 1998
Times Cited: 347
Times Cited: 347
Times Cited
Times Co-cited
Similarity
Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.
N T Bech-Hansen, M J Naylor, T A Maybaum, W G Pearce, B Koop, G A Fishman, M Mets, M A Musarella, K M Boycott. Nat Genet 1998
N T Bech-Hansen, M J Naylor, T A Maybaum, W G Pearce, B Koop, G A Fishman, M Mets, M A Musarella, K M Boycott. 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.
Fiona Mansergh, Noelle C Orton, John P Vessey, Melanie R Lalonde, William K Stell, Francois Tremblay, Steven Barnes, Derrick E Rancourt, N Torben Bech-Hansen. Hum Mol Genet 2005
Fiona Mansergh, Noelle C Orton, John P Vessey, Melanie R Lalonde, William K Stell, Francois Tremblay, Steven Barnes, Derrick E Rancourt, N Torben Bech-Hansen. Hum Mol Genet 2005
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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
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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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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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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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
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
Christina Zeitz, Anthony G Robson, Isabelle Audo. Prog Retin Eye Res 2015
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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.
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,[...]. Vis Neurosci 2006
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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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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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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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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,[...]. J Neurosci 2004
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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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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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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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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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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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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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Effects of presynaptic mutations on a postsynaptic Cacna1s calcium channel colocalized with mGluR6 at mouse photoreceptor ribbon synapses.
Dana Specht, Shu-Biao Wu, Paul Turner, Peter Dearden, Frank Koentgen, Uwe Wolfrum, Marion Maw, Johann Helmut Brandstätter, Susanne tom Dieck. Invest Ophthalmol Vis Sci 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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Calcium channel-dependent molecular maturation of photoreceptor synapses.
Nawal Zabouri, Silke Haverkamp. PLoS One 2013
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Genotype and phenotype of 101 dutch patients with congenital stationary night blindness.
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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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Alternative splicing at C terminus of Ca(V)1.4 calcium channel modulates calcium-dependent inactivation, activation potential, and current density.
Gregory Ming Yeong Tan, Dejie Yu, Juejin Wang, Tuck Wah Soong. J Biol Chem 2012
Gregory Ming Yeong Tan, Dejie Yu, Juejin Wang, Tuck Wah Soong. J Biol Chem 2012
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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.
Carolyn I Hope, Dianne M Sharp, Ariana Hemara-Wahanui, Jennifer I Sissingh, Patricia Lundon, Ed A Mitchell, Marion A Maw, Gillian M Clover. Clin Exp Ophthalmol 2005
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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
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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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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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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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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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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Functional characterization of the L-type Ca2+ channel Cav1.4alpha1 from mouse retina.
Ludwig Baumann, Andrea Gerstner, Xiangang Zong, Martin Biel, Christian Wahl-Schott. Invest Ophthalmol Vis Sci 2004
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Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness.
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Cav1.4alpha1 subunits can form slowly inactivating dihydropyridine-sensitive L-type Ca2+ channels lacking Ca2+-dependent inactivation.
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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.
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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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Clinical variability among patients with incomplete X-linked congenital stationary night blindness and a founder mutation in CACNA1F.
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A mutation in SLC24A1 implicated in autosomal-recessive congenital stationary night blindness.
S Amer Riazuddin, Amber Shahzadi, Christina Zeitz, Zubair M Ahmed, Radha Ayyagari, Venkata R M Chavali, Virgilio G Ponferrada, Isabelle Audo, Christelle Michiels, Marie-Elise Lancelot,[...]. Am J Hum Genet 2010
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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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TRPM1 is a component of the retinal ON bipolar cell transduction channel in the mGluR6 cascade.
Chieko Koike, Takehisa Obara, Yoshitsugu Uriu, Tomohiro Numata, Rikako Sanuki, Kentarou Miyata, Toshiyuki Koyasu, Shinji Ueno, Kazuo Funabiki, Akiko Tani,[...]. Proc Natl Acad Sci U S A 2010
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Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness.
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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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CaV1.3 L-type Ca2+ channels modulate depression-like behaviour in mice independent of deaf phenotype.
Perrine Busquet, Ngoc Khoi Nguyen, Eduard Schmid, Naoyuki Tanimoto, Mathias W Seeliger, Tamar Ben-Yosef, Fengxia Mizuno, Abram Akopian, Jörg Striessnig, Nicolas Singewald. Int J Neuropsychopharmacol 2010
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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).
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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.