PMC Links for Gene (Select 1259) - PMC

Select item 79071211.

A case of retinitis pigmentosa homozygous for a rare CNGA1 causal variant

Kohei Saito, Norimoto Gotoh, Inyeop Kang, Toshio Shimada, Takeshi Usui, Chikashi Terao

Sci Rep. 2021; 11: 4681. Published online 2021 Feb 25. doi: 10.1038/s41598-021-84098-9

PMCID:: PMC7907121

Select item 74113322.

Identification of a novel homozygous variant in the CNGA1 gene in a Chinese family with autosomal recessive retinitis pigmentosa

Le Wang, Tongdan Zou, Yongqiong Lin, Ling Li, Peng Zhang, Bo Gong, Jilong Hao, Houbin Zhang

Mol Med Rep. 2020 Sep; 22(3): 2516–2520. Published online 2020 Jul 10. doi: 10.3892/mmr.2020.11331

PMCID:: PMC7411332

Abstract Article PDF–457K

Select item 65756603.

Human rod photoreceptor cGMP-gated channel: amino acid sequence, gene structure, and functional expression

RS Dhallan, JP Macke, RL Eddy, TB Shows, RR Reed, KW Yau, J Nathans

J Neurosci. 1992 Aug 1; 12(8): 3248–3256. doi: 10.1523/JNEUROSCI.12-08-03248.1992

PMCID:: PMC6575660

Abstract PDF–1.9M

Select item 49389714.

Novel compound heterozygous mutations in CNGA1in a Chinese family affected with autosomal recessive retinitis pigmentosa by targeted sequencing

Min Wang, Dekang Gan, Xin Huang, Gezhi Xu

BMC Ophthalmol. 2016; 16: 101. Published online 2016 Jul 8. doi: 10.1186/s12886-016-0281-6

PMCID:: PMC4938971

Abstract Article PDF–837K

Select item 47252445.

Novel compound heterozygous mutation in the CNGA1 gene underlie autosomal recessive retinitis pigmentosa in a Chinese family

Xin Jin, Ling-Hui Qu, Bao-Ke Hou, Hai-Wei Xu, Xiao-Hong Meng, Chi-Pui Pang, Zheng-Qin Yin

Biosci Rep. 2016 Feb; 36(1): e00289. Published online 2016 Jan 22. doi: 10.1042/BSR20150131

PMCID:: PMC4725244

Abstract Article PDF–866K

Select item 41825606.

Whole Exome Analysis Identifies Frequent CNGA1 Mutations in Japanese Population with Autosomal Recessive Retinitis Pigmentosa

Satoshi Katagiri, Masakazu Akahori, Yuri Sergeev, Kazutoshi Yoshitake, Kazuho Ikeo, Masaaki Furuno, Takaaki Hayashi, Mineo Kondo, Shinji Ueno, Kazushige Tsunoda, Kei Shinoda, Kazuki Kuniyoshi, Yohinori Tsurusaki, Naomichi Matsumoto, Hiroshi Tsuneoka, Takeshi Iwata

PLoS One. 2014; 9(9): e108721. Published online 2014 Sep 30. doi: 10.1371/journal.pone.0108721

PMCID:: PMC4182560

Abstract Article PDF–7.7M

Select item 17349767.

Novel homozygous mutation in the alpha subunit of the rod cGMP gated channel (CNGA1) in two Spanish sibs affected with autosomal recessive retinitis pigmentosa

E Paloma, A Martinez-Mir, B Garcia-Sandoval, C Ayuso, L Vilageliu, R Gonzalez-Duarte, S Balcells

J Med Genet. 2002 Oct; 39(10): e66. doi: 10.1136/jmg.39.10.e66

PMCID:: PMC1734976

Summary PDF–234K

Select item 1299768.

An Endogenous RNA Transcript Antisense to CNGα1 Cation Channel mRNA

Chin-Hung Cheng, David Tai-Wai Yew, Hiu-Yee Kwan, Qing Zhou, Yu Huang, Yong Liu, Wing-Yee Chan, Xiaoqiang Yao

Mol Biol Cell. 2002 Oct; 13(10): 3696–3705. doi: 10.1091/mbc.E02-03-0127

PMCID:: PMC129976

Abstract Article PDF–577K

Select item 87381399.

Structural mechanisms of assembly, permeation, gating, and pharmacology of native human rod CNG channel

Jing Xue, Yan Han, Weizhong Zeng, Youxing Jiang

Neuron. Author manuscript; available in PMC 2023 Jan 5.

Published in final edited form as: Neuron. 2022 Jan 5; 110(1): 86–95.e5. Published online 2021 Oct 25. doi: 10.1016/j.neuron.2021.10.006

PMCID:: PMC8738139

Abstract Article PDF–2.5M

Select item 4075910.

Mutations in the gene encoding the alpha subunit of the rod cGMP-gated channel in autosomal recessive retinitis pigmentosa.

T P Dryja, J T Finn, Y W Peng, T L McGee, E L Berson, K W Yau

Proc Natl Acad Sci U S A. 1995 Oct 24; 92(22): 10177–10181. doi: 10.1073/pnas.92.22.10177

PMCID:: PMC40759

Summary Page Browse PDF–1.3M

Select item 377408411.

Insulin receptor regulates photoreceptor CNG channel activity

Vivek K. Gupta, Ammaji Rajala, Raju V. S. Rajala

Am J Physiol Endocrinol Metab. 2012 Dec 1; 303(11): E1363–E1372. Published online 2012 Oct 2. doi: 10.1152/ajpendo.00199.2012

PMCID:: PMC3774084

Abstract Article

Select item 296695212.

Growth factor receptor-bound protein 14: a new modulator of photoreceptor-specific cyclic-nucleotide-gated channel

Vivek K Gupta, Ammaji Rajala, Roger J Daly, Raju V S Rajala

EMBO Rep. 2010 Nov; 11(11): 861–867. Published online 2010 Oct 1. doi: 10.1038/embor.2010.142

PMCID:: PMC2966952

Abstract Article PDF–828K

Select item 287739513.

The heteromeric cyclic nucleotide-gated channel adopts a 3A:1B stoichiometry

Haining Zhong, Laurie L. Molday, Robert S. Molday, King-Wai Yau

Nature. Author manuscript; available in PMC 2010 May 27.

Published in final edited form as: Nature. 2002 Nov 14; 420(6912): 193–198. doi: 10.1038/nature01201

PMCID:: PMC2877395

Abstract Article PDF–653K

Select item 816503014.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 317805915.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

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