Condition: Achromatopsia 3


rs1052078370 in CNGB3 gene and Achromatopsia 3 PMID 28795510 2017 CNGB3 mutation spectrum including copy number variations in 552 achromatopsia patients.

PMID 25558176 2014 Five novel CNGB3 gene mutations in Polish patients with achromatopsia.

PMID 25558076 2015 Antifungal activity of compounds targeting the Hsp90-calcineurin pathway against various mould species.

PMID 10888875 2000 Genetic basis of total colourblindness among the Pingelapese islanders.

PMID 12357335 2002 A frameshift insertion in the cone cyclic nucleotide gated cation channel causes complete achromatopsia in a consanguineous family from a rural isolate.

PMID 15712225 2005 Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases.

PMID 10958649 2000 Mutations in the CNGB3 gene encoding the beta-subunit of the cone photoreceptor cGMP-gated channel are responsible for achromatopsia (ACHM3) linked to chromosome 8q21.

PMID 15657609 2005 CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia.

PMID 14757870 2004 Achromatopsia caused by novel mutations in both CNGA3 and CNGB3.

PMID 25616768 2015 Genetics and Disease Expression in the CNGA3 Form of Achromatopsia: Steps on the Path to Gene Therapy.

PMID 26106334 2015 Inherited macular degeneration-associated mutations in CNGB3 increase the ligand sensitivity and spontaneous open probability of cone cyclic nucleotide-gated channels.

PMID 25205868 2014 CNGB3-achromatopsia clinical trial with CNTF: diminished rod pathway responses with no evidence of improvement in cone function.

PMID 26992781 2016 Molecular genetics of cone-rod dystrophy in Chinese patients: New data from 61 probands and mutation overview of 163 probands.

PMID 23776498 2013 Exome sequencing of 47 chinese families with cone-rod dystrophy: mutations in 25 known causative genes.

PMID 24148654 2014 Retinal structure and function in achromatopsia: implications for gene therapy.

PMID 16319819 2005 Clinical and genetic features of Hungarian achromatopsia patients.

PMID 12815043 2003 Achromatopsia-associated mutation in the human cone photoreceptor cyclic nucleotide-gated channel CNGB3 subunit alters the ligand sensitivity and pore properties of heteromeric channels.

PMID 17265047 2007 Achromatopsia: the CNGB3 p.T383fsX mutation results from a founder effect and is responsible for the visual phenotype in the original report of uniparental disomy 14.

PMID 23805033 2013 Disease-associated mutations in CNGB3 promote cytotoxicity in photoreceptor-derived cells.

PMID 15459792 2004 [Molecular genetic findings in patients with congenital cone dysfunction. Mutations in the CNGA3, CNGB3, or GNAT2 genes].

PMID 20574029 2010 Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography.

PMID 20079539 2010 Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy.

PMID 19592100 2009 Genetic etiology and clinical consequences of complete and incomplete achromatopsia.

PMID 17652762 2007 CNGB3 achromatopsia with progressive loss of residual cone function and impaired rod-mediated function.