PMC Articles for MedGen (Select 482845) - PMC

Select item 98205431.

Mice Lacking Gpr179 with Complete Congenital Stationary Night Blindness Are a Good Model for Myopia

Baptiste Wilmet, Jacques Callebert, Robert Duvoisin, Ruben Goulet, Christophe Tourain, Christelle Michiels, Helen Frederiksen, Frank Schaeffel, Olivier Marre, José Alain Sahel, Isabelle Audo, Serge Picaud, Christina Zeitz

Int J Mol Sci. 2023 Jan; 24(1): 219. Published online 2022 Dec 22. doi: 10.3390/ijms24010219

PMCID:: PMC9820543

Abstract Article PDF–1.1M

Select item 97405382.

Congenital Stationary Night Blindness: Clinical and Genetic Features

Angela H. Kim, Pei-Kang Liu, Yin-Hsi Chang, Eugene Yu-Chuan Kang, Hung-Hsuan Wang, Nelson Chen, Yun-Ju Tseng, Go Hun Seo, Hane Lee, Laura Liu, An-Ning Chao, Kuan-Jen Chen, Yih-Shiou Hwang, Wei-Chi Wu, Chi-Chun Lai, Stephen H. Tsang, Meng-Chang Hsiao, Nan-Kai Wang

Int J Mol Sci. 2022 Dec; 23(23): 14965. Published online 2022 Nov 29. doi: 10.3390/ijms232314965

PMCID:: PMC9740538

Abstract Article PDF–3.0M

Select item 81228903.

A New Mouse Model for Complete Congenital Stationary Night Blindness Due to Gpr179 Deficiency

Elise Orhan, Marion Neuillé, Miguel de Sousa Dias, Thomas Pugliese, Christelle Michiels, Christel Condroyer, Aline Antonio, José-Alain Sahel, Isabelle Audo, Christina Zeitz

Int J Mol Sci. 2021 May; 22(9): 4424. Published online 2021 Apr 23. doi: 10.3390/ijms22094424

PMCID:: PMC8122890

Abstract Article PDF–4.7M

Select item 74431174.

Phenotype Driven Analysis of Whole Genome Sequencing Identifies Deep Intronic Variants that Cause Retinal Dystrophies by Aberrant Exonization

Matteo Di Scipio, Erika Tavares, Shriya Deshmukh, Isabelle Audo, Kit Green-Sanderson, Yuliya Zubak, Fayçal Zine-Eddine, Alexander Pearson, Anjali Vig, Chen Yu Tang, Antonio Mollica, Jonathan Karas, Anupreet Tumber, Caberry W. Yu, Gail Billingsley, Michael D. Wilson, Christina Zeitz, Elise Héon, Ajoy Vincent

Invest Ophthalmol Vis Sci. 2020 Aug; 61(10): 36. Published online 2020 Aug 20. doi: 10.1167/iovs.61.10.36

PMCID:: PMC7443117

Abstract Article PDF–4.1M

Select item 69003885.

Pseudodominant inheritance of autosomal recessive congenital stationary night blindness in one family with three co‐segregating deleterious GRM6 variants identified by next‐generation sequencing

Hong‐Yan Liu, Jia Huang, Hai Xiao, Ming‐Jie Zhang, Fei‐Fei Shi, Ying‐Hai Jiang, Han Du, Qingzhong He, Zheng‐Yuan Wang

Mol Genet Genomic Med. 2019 Dec; 7(12): e952. Published online 2019 Nov 2. doi: 10.1002/mgg3.952

PMCID:: PMC6900388

Abstract Article PDF–455K

Select item 48679106.

Biallelic Mutations in GNB3 Cause a Unique Form of Autosomal-Recessive Congenital Stationary Night Blindness

Ajoy Vincent, Isabelle Audo, Erika Tavares, Jason T. Maynes, Anupreet Tumber, Thomas Wright, Shuning Li, Christelle Michiels, GNB3 Consortium, Christel Condroyer, Heather MacDonald, Robert Verdet, José-Alain Sahel, Christian P. Hamel, Christina Zeitz, Elise Héon

Am J Hum Genet. 2016 May 5; 98(5): 1011–1019. Published online 2016 Apr 7. doi: 10.1016/j.ajhg.2016.03.021

PMCID:: PMC4867910

Abstract Article PDF–1.5M

Select item 46363507.

Mutations in GRM6 identified in consanguineous Pakistani families with congenital stationary night blindness

Muhammad Asif Naeem, Alexander D. H. Gottsch, Inayat Ullah, Shaheen N. Khan, Tayyab Husnain, Nadeem H. Butt, Zaheeruddin A. Qazi, Javed Akram, Sheikh Riazuddin, Radha Ayyagari, J. Fielding Hejtmancik, S. Amer Riazuddin

Mol Vis. 2015; 21: 1261–1271. Published online 2015 Oct 31.

PMCID:: PMC4636350

Abstract Article PDF–4.5M

Select item 39627288.

Molecular profiling of complete congenital stationary night blindness: A pilot study on an Indian cohort

Sivasankar Malaichamy, Parveen Sen, Ramya Sachidanandam, Tharigopala Arokiasamy, Marie Elise Lancelot, Isabelle Audo, Christina Zeitz, Nagasamy Soumittra

Mol Vis. 2014; 20: 341–351. Published online 2014 Mar 21.

Correction in:: Mol Vis. 2014; 20: 780.

PMCID:: PMC3962728

Abstract Article PDF–1.3M

Select item 38081029.

Ultrastructural Localization of GPR179 and the Impact of Mutant Forms on Retinal Function in CSNB1 Patients and a Mouse Model

Jan Klooster, Maria M. van Genderen, Minzhong Yu, Ralph J. Florijn, Frans C. C. Riemslag, Arthur A. B. Bergen, Ronald G. Gregg, Neal S. Peachey, Maarten Kamermans

Invest Ophthalmol Vis Sci. 2013 Oct; 54(10): 6973–6981. Published online 2013 Oct 23. doi: 10.1167/iovs.13-12293

PMCID:: PMC3808102

Abstract Article PDF–1.1M

Select item 354246510.

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, Béatrice Bocquet, Congenital Stationary Night Blindness Consortium, 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 Jan 10; 92(1): 67–75. doi: 10.1016/j.ajhg.2012.10.023

PMCID:: PMC3542465

Abstract Article PDF–738K

Select item 333990911.

GNAT1 Associated with Autosomal Recessive Congenital Stationary Night Blindness

Muhammad Asif Naeem, Venkata R. M. Chavali, Shahbaz Ali, Muhammad Iqbal, Saima Riazuddin, Shaheen N. Khan, Tayyab Husnain, Paul A. Sieving, Radha Ayyagari, Sheikh Riazuddin, J. Fielding Hejtmancik, S. Amer Riazuddin

Invest Ophthalmol Vis Sci. 2012 Mar; 53(3): 1353–1361. Published online 2012 Mar 13. doi: 10.1167/iovs.11-8026

PMCID:: PMC3339909

Abstract Article PDF–2.5M

Select item 327667512.

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, Marie-Elise Lancelot, Aline Antonio, Aurore Germain, Christelle Michiels, Claire Audier, Mélanie Letexier, Jean-Paul Saraiva, Bart P. Leroy, Francis L. Munier, Saddek Mohand-Saïd, Birgit Lorenz, Christoph Friedburg, Markus Preising, Ulrich Kellner, Agnes B. Renner, Veselina Moskova-Doumanova, Wolfgang Berger, Bernd Wissinger, Christian P. Hamel, Daniel F. Schorderet, Elfride De Baere, Dror Sharon, Eyal Banin, Samuel G. Jacobson, Dominique Bonneau, Xavier Zanlonghi, Guylene Le Meur, Ingele Casteels, Robert Koenekoop, Vernon W. Long, Francoise Meire, Katrina Prescott, Thomy de Ravel, Ian Simmons, Hoan Nguyen, Hélène Dollfus, Olivier Poch, Thierry Léveillard, Kim Nguyen-Ba-Charvet, José-Alain Sahel, Shomi S. Bhattacharya, Christina Zeitz

Am J Hum Genet. 2012 Feb 10; 90(2): 321–330. doi: 10.1016/j.ajhg.2011.12.007

Correction in:: Am J Hum Genet. 2012 Jul 13; 91(1): 209.

PMCID:: PMC3276675

Abstract Article PDF–828K

Select item 327665613.

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, Pasano Bojang, Jr., Jillian N. Pearring, Huibert Jan Simonsz, Maria van Genderen, David G. Birch, Elias I. Traboulsi, Allison Dorfman, Irma Lopez, Huanan Ren, Andrew F.X. Goldberg, Patsy M. Nishina, Pierre Lachapelle, Maureen A. McCall, Robert K. Koenekoop, Arthur A.B. Bergen, Maarten Kamermans, Ronald G. Gregg

Am J Hum Genet. 2012 Feb 10; 90(2): 331–339. doi: 10.1016/j.ajhg.2011.12.006

PMCID:: PMC3276656

Abstract Article PDF–978K

Select item 277583014.

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, Ulrich Kellner, Agnes B. Renner, Antje Bernd, Aline Antonio, Veselina Moskova-Doumanova, Marie-Elise Lancelot, Charlotte M. Poloschek, Isabelle Drumare, Sabine Defoort-Dhellemmes, Bernd Wissinger, Thierry Léveillard, Christian P. Hamel, Daniel F. Schorderet, Elfride De Baere, Wolfgang Berger, Samuel G. Jacobson, Eberhart Zrenner, José-Alain Sahel, Shomi S. Bhattacharya, Christina Zeitz

Am J Hum Genet. 2009 Nov 13; 85(5): 720–729. doi: 10.1016/j.ajhg.2009.10.013

PMCID:: PMC2775830

Abstract Article PDF–760K

Select item 277582615.

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, Maarten Kamermans

Am J Hum Genet. 2009 Nov 13; 85(5): 730–736. doi: 10.1016/j.ajhg.2009.10.012

PMCID:: PMC2775826

Abstract Article PDF–1.0M

Select item 798004416.

Restoration of mGluR6 Localization Following AAV-Mediated Delivery in a Mouse Model of Congenital Stationary Night Blindness

Juliette Varin, Nassima Bouzidi, Miguel Miranda De Sousa Dias, Thomas Pugliese, Christelle Michiels, Camille Robert, Melissa Desrosiers, José-Alain Sahel, Isabelle Audo, Deniz Dalkara, Christina Zeitz

Invest Ophthalmol Vis Sci. 2021 Mar; 62(3): 24. Published online 2021 Mar 17. doi: 10.1167/iovs.62.3.24

PMCID:: PMC7980044

Abstract Article PDF–9.6M

Select item 456934117.

A Naturally Occurring Canine Model of Autosomal Recessive Congenital Stationary Night Blindness

Mineo Kondo, Gautami Das, Ryoetsu Imai, Evelyn Santana, Tomio Nakashita, Miho Imawaka, Kosuke Ueda, Hirohiko Ohtsuka, Kazuhiko Sakai, Takehiro Aihara, Kumiko Kato, Masahiko Sugimoto, Shinji Ueno, Yuji Nishizawa, Gustavo D. Aguirre, Keiko Miyadera

PLoS One. 2015; 10(9): e0137072. Published online 2015 Sep 14. doi: 10.1371/journal.pone.0137072

PMCID:: PMC4569341

Abstract Article PDF–11M

Select item 394394818.

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, Isabelle Audo, Christina Zeitz

PLoS One. 2014; 9(3): e90342. Published online 2014 Mar 5. doi: 10.1371/journal.pone.0090342

PMCID:: PMC3943948

Abstract Article PDF–5.7M

Select item 388359119.

Presence of the Gpr179^nob5 allele in a C3H-derived transgenic mouse

Jasmin Balmer, Rui Ji, Thomas A. Ray, Fabia Selber, Max Gassmann, Neal S. Peachey, Ronald G. Gregg, Volker Enzmann

Mol Vis. 2013; 19: 2615–2625. Published online 2013 Dec 31.

PMCID:: PMC3883591

Abstract Article PDF–4.3M

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