Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene CNGB1-Reference-Cited by-同舟云学术

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Variable expressivity in patients with autosomal recessive retinitis pigmentosa associated with the gene CNGB1

Published:2020-10-14 Issue:1 Volume:42 Page:15-22
ISSN:1381-6810
Container-title:Ophthalmic Genetics
language:en
Short-container-title:Ophthalmic Genetics

Author:

Radojevic Bojana¹,Jones Kaylie²^ORCID,Klein Martin²,Mauro-Herrera Margarita¹,Kingsley Ronald¹³,Birch David G.²⁴,Bennett Lea D.¹⁴^ORCID

Affiliation:

1. Department of Ophthalmology, University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA

2. Rose-Silverthorne Retinal Degenerations Laboratory, Retina Foundation of the Southwest, Dallas, TX, USA

3. Department of Ophthalmology, Dean McGee Eye Institute, Oklahoma City, OK, USA

4. Department of Ophthalmology, UT Southwestern Medical Center, Dallas, TX, USA

Funder

National Eye Institute

U.S. Department of Health and Human Services

Publisher

Informa UK Limited

Subject

Genetics (clinical),Ophthalmology,Pediatrics, Perinatology and Child Health

Link

https://www.tandfonline.com/doi/pdf/10.1080/13816810.2020.1832532

Reference43 articles.

1. Function and Dysfunction of CNG Channels: Insights from Channelopathies and Mouse Models

2. Cyclic Nucleotide-Gated Ion Channels

3. Rod Cyclic Nucleotide-Gated Channels Have a Stoichiometry of Three CNGA1 Subunits and One CNGB1 Subunit

4. Subunit Configuration of Heteromeric Cone Cyclic Nucleotide-Gated Channels

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1. Clinical and molecular findings in children with retinitis pigmentosa;Ophthalmic Genetics;2024-08-29

2. Losing, preserving, and restoring vision from neurodegeneration in the eye;Current Biology;2023-10

3. cGMP Signaling in Photoreceptor Degeneration;International Journal of Molecular Sciences;2023-07-07

4. Mutational Spectrum, Ocular and Olfactory Phenotypes of CNGB1-Related RP-Olfactory Dysfunction Syndrome in a Multiethnic Cohort;Genes;2023-03-30

5. Genetic Diagnosis for 64 Patients with Inherited Retinal Disease;Genes;2022-12-26

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