PMC Articles for MedGen (Select 361814) - PMC

Select item 98085511.

Identification of a novel large multigene deletion and a frameshift indel in PDE6B as the underlying cause of early-onset recessive rod–cone degeneration

Riccardo Sangermano, Pooja Biswas, Lori S. Sullivan, Emily M. Place, Shyamanga Borooah, Juerg Straubhaar, Eric A. Pierce, Stephen P. Daiger, Kinga M. Bujakowska, Radha Ayaggari

Cold Spring Harb Mol Case Stud. 2022 Dec; 8(7): a006247. doi: 10.1101/mcs.a006247

PMCID:: PMC9808551

Abstract Article PDF–3.0M

Select item 78638912.

Functional impact of a congenital stationary night blindness type 2 mutation depends on subunit composition of Ca_v1.4 Ca²⁺ channels

Brittany Williams, Josue A. Lopez, J. Wesley Maddox, Amy Lee

J Biol Chem. 2020 Dec 11; 295(50): 17215–17226. Published online 2020 Oct 8. doi: 10.1074/jbc.RA120.014138

PMCID:: PMC7863891

Abstract Article PDF–4.4M

Select item 69003883.

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 55544584.

Mechanisms of Mutant PDE6 Proteins Underlying Retinal Diseases

Kota N. Gopalakrishna, Kimberly Boyd, Nikolai O. Artemyev

Cell Signal. Author manuscript; available in PMC 2018 Sep 1.

Published in final edited form as: Cell Signal. 2017 Sep; 37: 74–80. Published online 2017 Jun 2. doi: 10.1016/j.cellsig.2017.06.002

PMCID:: PMC5554458

Abstract Article PDF–1.3M

Select item 43771345.

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

Abstract Article PDF–2.0M

Select item 39974326.

A Truncated Form of Rod Photoreceptor PDE6 β-Subunit Causes Autosomal Dominant Congenital Stationary Night Blindness by Interfering with the Inhibitory Activity of the γ-Subunit

Gaël Manes, Pallavi Cheguru, Anurima Majumder, Béatrice Bocquet, Audrey Sénéchal, Nikolai O. Artemyev, Christian P. Hamel, Philippe Brabet

PLoS One. 2014; 9(4): e95768. Published online 2014 Apr 23. doi: 10.1371/journal.pone.0095768

PMCID:: PMC3997432

Abstract Article PDF–2.4M

Select item 38835917.

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

Select item 13777718.

Congenital motor nystagmus linked to Xq26-q27.

J B Kerrison, M R Vagefi, M M Barmada, I H Maumenee

Am J Hum Genet. 1999 Feb; 64(2): 600–607. doi: 10.1086/302244

PMCID:: PMC1377771

Summary PDF–282K

Select item 27532619.

Transgenic Mice Carrying the H258N Mutation in the Gene Encoding the β-Subunit of Phosphodiesterase-6 (PDE6B) Provide a Model for Human Congenital Stationary Night Blindness

Stephen H. Tsang, Michael L. Woodruff, Lin Jun, Vinit Mahajan, Clyde K. Yamashita, Robert Pedersen, Chyuan-Sheng Lin, Stephen P. Goff, Thomas Rosenberg, Michael Larsen, Debora B. Farber, Steven Nusinowitz

Hum Mutat. Author manuscript; available in PMC 2009 Sep 28.

Published in final edited form as: Hum Mutat. 2007 Mar; 28(3): 243–254. doi: 10.1002/humu.20425

PMCID:: PMC2753261

Abstract Article PDF–2.1M

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