Christina Zeitz, Samuel G Jacobson, Christian P Hamel, Kinga Bujakowska, Marion Neuillé, Elise Orhan, Xavier Zanlonghi, Marie-Elise Lancelot, Christelle Michiels, Sharon B Schwartz, Béatrice Bocquet, Aline Antonio, Claire Audier, Mélanie Letexier, Jean-Paul Saraiva, Tien D Luu, Florian Sennlaub, Hoan Nguyen, Olivier Poch, Hélène Dollfus, Odile Lecompte, Susanne Kohl, José-Alain Sahel, Shomi S Bhattacharya, Isabelle Audo. Am J Hum Genet 2013
Times Cited: 89
Times Cited: 89
Times Cited
Times Co-cited
Similarity
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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Mutations in NYX, encoding the leucine-rich proteoglycan nyctalopin, cause X-linked complete congenital stationary night blindness.
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43
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 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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Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6.
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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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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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Recessive mutations of the gene TRPM1 abrogate ON bipolar cell function and cause complete congenital stationary night blindness in humans.
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Congenital stationary night blindness with negative electroretinogram. A new classification.
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TRPM1 is required for the depolarizing light response in retinal ON-bipolar cells.
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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 role for nyctalopin, a small leucine-rich repeat protein, in localizing the TRP melastatin 1 channel to retinal depolarizing bipolar cell dendrites.
Jillian N Pearring, Pasano Bojang, Yin Shen, Chieko Koike, Takahisa Furukawa, Scott Nawy, Ronald G Gregg. J Neurosci 2011
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Lrit3 deficient mouse (nob6): a novel model of complete congenital stationary night blindness (cCSNB).
Marion Neuillé, Said El Shamieh, Elise Orhan, Christelle Michiels, Aline Antonio, Marie-Elise Lancelot, Christel Condroyer, Kinga Bujakowska, Olivier Poch, José-Alain Sahel,[...]. PLoS One 2014
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TRPM1 is a component of the retinal ON bipolar cell transduction channel in the mGluR6 cascade.
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Specific deficit of the ON response in visual transmission by targeted disruption of the mGluR6 gene.
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A transient receptor potential-like channel mediates synaptic transmission in rod bipolar cells.
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TRPM1 forms complexes with nyctalopin in vivo and accumulates in postsynaptic compartment of ON-bipolar neurons in mGluR6-dependent manner.
Yan Cao, Ekaterina Posokhova, Kirill A Martemyanov. J Neurosci 2011
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Nyctalopin expression in retinal bipolar cells restores visual function in a mouse model of complete X-linked congenital stationary night blindness.
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An L-type calcium-channel gene mutated in incomplete X-linked congenital stationary night blindness.
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Loss-of-function mutations in a calcium-channel alpha1-subunit gene in Xp11.23 cause incomplete X-linked congenital stationary night blindness.
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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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LRIT3 is essential to localize TRPM1 to the dendritic tips of depolarizing bipolar cells and may play a role in cone synapse formation.
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The light response of ON bipolar neurons requires G[alpha]o.
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Depolarizing bipolar cell dysfunction due to a Trpm1 point mutation.
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Allelic variance between GRM6 mutants, Grm6nob3 and Grm6nob4 results in differences in retinal ganglion cell visual responses.
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The metabotropic receptor mGluR6 may signal through G(o), but not phosphodiesterase, in retinal bipolar cells.
S Nawy. J Neurosci 1999
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Identification of the gene and the mutation responsible for the mouse nob phenotype.
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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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Development and application of a next-generation-sequencing (NGS) approach to detect known and novel gene defects underlying retinal diseases.
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15
Whole-exome sequencing identifies KIZ as a ciliary gene associated with autosomal-recessive rod-cone dystrophy.
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TRPM1 mutations are associated with the complete form of congenital stationary night blindness.
Makoto Nakamura, Rikako Sanuki, Tetsuhiro R Yasuma, Akishi Onishi, Koji M Nishiguchi, Chieko Koike, Mikiko Kadowaki, Mineo Kondo, Yozo Miyake, Takahisa Furukawa. Mol Vis 2010
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Gbeta5 is required for normal light responses and morphology of retinal ON-bipolar cells.
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Molecular characterization of a novel retinal metabotropic glutamate receptor mGluR6 with a high agonist selectivity for L-2-amino-4-phosphonobutyrate.
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GPR179 is required for high sensitivity of the mGluR6 signaling cascade in depolarizing bipolar cells.
Thomas A Ray, Kathryn M Heath, Nazarul Hasan, Jennifer M Noel, Ivy S Samuels, Kirill A Martemyanov, Neal S Peachey, Maureen A McCall, Ronald G Gregg. J Neurosci 2014
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The negative ERG: clinical phenotypes and disease mechanisms of inner retinal dysfunction.
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Orphan receptor GPR179 forms macromolecular complexes with components of metabotropic signaling cascade in retina ON-bipolar neurons.
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GPR158/179 regulate G protein signaling by controlling localization and activity of the RGS7 complexes.
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Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy.
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Heterozygous missense mutation in the rhodopsin gene as a cause of congenital stationary night blindness.
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Regulators of G protein signaling RGS7 and RGS11 determine the onset of the light response in ON bipolar neurons.
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Further insights into GPR179: expression, localization, and associated pathogenic mechanisms leading to complete congenital stationary night blindness.
Elise Orhan, Laurent Prézeau, Said El Shamieh, Kinga M Bujakowska, Christelle Michiels, Yvrick Zagar, Claire Vol, Shomi S Bhattacharya, José-Alain Sahel, Florian Sennlaub,[...]. Invest Ophthalmol Vis Sci 2013
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GNAT1 associated with autosomal recessive congenital stationary night blindness.
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Retina-specific GTPase accelerator RGS11/G beta 5S/R9AP is a constitutive heterotrimer selectively targeted to mGluR6 in ON-bipolar neurons.
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ISCEV Standard for full-field clinical electroretinography (2008 update).
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Differential gene expression of TRPM1, the potential cause of congenital stationary night blindness and coat spotting patterns (LP) in the Appaloosa horse (Equus caballus).
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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.