| 1 |
30804581 | Identification of Novel Mutation in CNGA3 gene by Whole-Exome Sequencing and In-Silico Analyses for Genotype-Phenotype Assessment with Autosomal Recessive Achromatopsia in Pakistani families. | 2019 Feb |
1 |
| 2 |
27040408 | Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia. | 2016 May |
1 |
| 3 |
26407004 | Canine CNGA3 Gene Mutations Provide Novel Insights into Human Achromatopsia-Associated Channelopathies and Treatment. | 2015 |
1 |
| 4 |
26493561 | Identification of novel mutations by targeted exome sequencing and the genotype-phenotype assessment of patients with achromatopsia. | 2015 Oct 22 |
1 |
| 5 |
24675082 | Alternative splicing governs cone cyclic nucleotide-gated (CNG) channel sensitivity to regulation by phosphoinositides. | 2014 May 9 |
1 |
| 6 |
23530136 | Two structural components in CNGA3 support regulation of cone CNG channels by phosphoinositides. | 2013 Apr |
2 |
| 7 |
23552282 | CNGA3 achromatopsia-associated mutation potentiates the phosphoinositide sensitivity of cone photoreceptor CNG channels by altering intersubunit interactions. | 2013 Jul 15 |
1 |
| 8 |
19686132 | Functional analysis of the guanylyl cyclase type D signaling system in the olfactory epithelium. | 2009 Jul |
1 |
| 9 |
18303857 | Functional activity of photoreceptor cyclic nucleotide-gated channels is dependent on the integrity of cholesterol- and sphingolipid-enriched membrane domains. | 2008 Mar 25 |
1 |
| 10 |
17693388 | Functional analysis of rod monochromacy-associated missense mutations in the CNGA3 subunit of the cone photoreceptor cGMP-gated channel. | 2007 Oct 12 |
6 |
| 11 |
17724338 | Contribution of the receptor guanylyl cyclase GC-D to chemosensory function in the olfactory epithelium. | 2007 Sep 4 |
1 |
| 12 |
16961972 | Compound heterozygous CNGA3 mutations (R436W, L633P) in a Japanese patient with congenital achromatopsia. | 2006 May-Aug |
1 |
| 13 |
15743887 | Functional consequences of progressive cone dystrophy-associated mutations in the human cone photoreceptor cyclic nucleotide-gated channel CNGA3 subunit. | 2005 Jul |
4 |
| 14 |
15223812 | Functional role of hCngb3 in regulation of human cone cng channel: effect of rod monochromacy-associated mutations in hCNGB3 on channel function. | 2004 Jul |
3 |
| 15 |
12815043 | Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels. | 2003 Sep 5 |
2 |
| 16 |
12187429 | Clinical features of achromatopsia in Swedish patients with defined genotypes. | 2002 Jun |
1 |
| 17 |
11536077 | CNGA3 mutations in hereditary cone photoreceptor disorders. | 2001 Oct |
1 |
| 18 |
9662398 | Total colourblindness is caused by mutations in the gene encoding the alpha-subunit of the cone photoreceptor cGMP-gated cation channel. | 1998 Jul |
1 |
| 19 |
9721202 | Human rod monochromacy: linkage analysis and mapping of a cone photoreceptor expressed candidate gene on chromosome 2q11. | 1998 Aug 1 |
1 |