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Literature DB >> 14757870

Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.

S Johnson¹, M Michaelides, I A Aligianis, J R Ainsworth, J D Mollon, E R Maher, A T Moore, D M Hunt.

Abstract

Entities: Disease Gene Mutation

Mesh：

Substances：

Year: 2004 PMID： 14757870 PMCID： PMC1735666 DOI： 10.1136/jmg.2003.011437

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

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Cited

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42 in total

1. Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism.

Authors: Xi-Qin Ding; Cynthia S Harry; Yumiko Umino; Alexander V Matveev; Steven J Fliesler; Robert B Barlow
Journal: Hum Mol Genet Date: 2009-09-17 Impact factor: 6.150

2. Early-onset, slow progression of cone photoreceptor dysfunction and degeneration in CNG channel subunit CNGB3 deficiency.

Authors: Jianhua Xu; Lynsie Morris; Steven J Fliesler; David M Sherry; Xi-Qin Ding
Journal: Invest Ophthalmol Vis Sci Date: 2011-06-01 Impact factor: 4.799

3. Genotype-dependent variability in residual cone structure in achromatopsia: toward developing metrics for assessing cone health.

Authors: Adam M Dubis; Robert F Cooper; Jonathan Aboshiha; Christopher S Langlo; Venki Sundaram; Benjamin Liu; Frederick Collison; Gerald A Fishman; Anthony T Moore; Andrew R Webster; Alfredo Dubra; Joseph Carroll; Michel Michaelides
Journal: Invest Ophthalmol Vis Sci Date: 2014-10-02 Impact factor: 4.799

4. CNGA3 deficiency affects cone synaptic terminal structure and function and leads to secondary rod dysfunction and degeneration.

Authors: Jianhua Xu; Lynsie M Morris; Stylianos Michalakis; Martin Biel; Steven J Fliesler; David M Sherry; Xi-Qin Ding
Journal: Invest Ophthalmol Vis Sci Date: 2012-03-01 Impact factor: 4.799

5. Genetic analysis of four Pakistani families with achromatopsia and a novel S4 motif mutation of CNGA3.

Authors: Muhammad Arif Nadeem Saqib; Bilal Malik Awan; Mehwish Sarfraz; Muhammad Nasim Khan; Sajid Rashid; Muhammad Ansar
Journal: Jpn J Ophthalmol Date: 2011-09-13 Impact factor: 2.447

6. The B3 Subunit of the Cone Cyclic Nucleotide-gated Channel Regulates the Light Responses of Cones and Contributes to the Channel Structural Flexibility.

Authors: Xi-Qin Ding; Arjun Thapa; Hongwei Ma; Jianhua Xu; Michael H Elliott; Karla K Rodgers; Marci L Smith; Jin-Shan Wang; Steven J Pittler; Vladimir J Kefalov
Journal: J Biol Chem Date: 2016-02-18 Impact factor: 5.157

Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.

1. Impaired cone function and cone degeneration resulting from CNGB3 deficiency: down-regulation of CNGA3 biosynthesis as a potential mechanism.

2. Early-onset, slow progression of cone photoreceptor dysfunction and degeneration in CNG channel subunit CNGB3 deficiency.

3. Genotype-dependent variability in residual cone structure in achromatopsia: toward developing metrics for assessing cone health.

4. CNGA3 deficiency affects cone synaptic terminal structure and function and leads to secondary rod dysfunction and degeneration.

5. Genetic analysis of four Pakistani families with achromatopsia and a novel S4 motif mutation of CNGA3.

6. The B3 Subunit of the Cone Cyclic Nucleotide-gated Channel Regulates the Light Responses of Cones and Contributes to the Channel Structural Flexibility.

7. Establishing baseline rod electroretinogram values in achromatopsia and cone dystrophy.

8. Rod and rod-driven function in achromatopsia and blue cone monochromatism.

Review 9. Function and dysfunction of CNG channels: insights from channelopathies and mouse models.

10. In vivo imaging of the photoreceptor mosaic of a rod monochromat.