Published in Hum Mol Genet on December 01, 2010
Photoreceptor structure and function in patients with congenital achromatopsia. Invest Ophthalmol Vis Sci (2011) 1.61
A Naturally-Derived Compound Schisandrin B Enhanced Light Sensation in the pde6c Zebrafish Model of Retinal Degeneration. PLoS One (2016) 1.39
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Am J Hum Genet (2012) 1.36
The cone dysfunction syndromes. Br J Ophthalmol (2015) 0.86
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Targeted ablation of the Pde6h gene in mice reveals cross-species differences in cone and rod phototransduction protein isoform inventory. J Biol Chem (2015) 0.79
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Distinct patterns of compartmentalization and proteolytic stability of PDE6C mutants linked to achromatopsia. Mol Cell Neurosci (2014) 0.77
Advances in understanding the molecular basis of the first steps in color vision. Prog Retin Eye Res (2015) 0.77
Achromatopsia caused by novel missense mutations in the CNGA3 gene. Int J Ophthalmol (2015) 0.77
Mechanisms of mutant PDE6 proteins underlying retinal diseases. Cell Signal (2017) 0.75
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CNGA3 mutations in hereditary cone photoreceptor disorders. Am J Hum Genet (2001) 2.51
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet (2005) 2.37
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. Hum Mol Genet (2000) 2.20
Genetic basis of total colourblindness among the Pingelapese islanders. Nat Genet (2000) 2.18
The two GAF domains in phosphodiesterase 2A have distinct roles in dimerization and in cGMP binding. Proc Natl Acad Sci U S A (2002) 2.10
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet (2002) 2.10
Homozygosity mapping reveals PDE6C mutations in patients with early-onset cone photoreceptor disorders. Am J Hum Genet (2009) 1.72
Genetic etiology and clinical consequences of complete and incomplete achromatopsia. Ophthalmology (2009) 1.65
A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene. Proc Natl Acad Sci U S A (2009) 1.64
Progressive loss of cones in achromatopsia: an imaging study using spectral-domain optical coherence tomography. Invest Ophthalmol Vis Sci (2010) 1.61
Mapping of a novel locus for achromatopsia (ACHM4) to 1p and identification of a germline mutation in the alpha subunit of cone transducin (GNAT2). J Med Genet (2002) 1.44
Comprehensive analysis of the achromatopsia genes CNGA3 and CNGB3 in progressive cone dystrophy. Ophthalmology (2010) 1.40
Probing domain functions of chimeric PDE6alpha'/PDE5 cGMP-phosphodiesterase. J Biol Chem (1998) 1.20
The structure of the GAF A domain from phosphodiesterase 6C reveals determinants of cGMP binding, a conserved binding surface, and a large cGMP-dependent conformational change. J Biol Chem (2008) 1.15
Characterization of human cone phosphodiesterase-6 ectopically expressed in Xenopus laevis rods. J Biol Chem (2009) 1.04
Direct interaction of the inhibitory gamma-subunit of Rod cGMP phosphodiesterase (PDE6) with the PDE6 GAFa domains. Biochemistry (2002) 1.02
Mutation in rod PDE6 linked to congenital stationary night blindness impairs the enzyme inhibition by its gamma-subunit. Biochemistry (2003) 0.98
Identification of the gamma subunit-interacting residues on photoreceptor cGMP phosphodiesterase, PDE6alpha '. J Biol Chem (2000) 0.98
A conformational switch in the inhibitory gamma-subunit of PDE6 upon enzyme activation by transducin. Biochemistry (2001) 0.97
The GAFa domains of rod cGMP-phosphodiesterase 6 determine the selectivity of the enzyme dimerization. J Biol Chem (2003) 0.97
Cyclic GMP-hydrolyzing phosphodiesterases. Handb Exp Pharmacol (2009) 0.95
Like night and day: rods and cones have different pigment regeneration pathways. Neuron (2002) 0.84
Multiple zinc binding sites in retinal rod cGMP phosphodiesterase, PDE6alpha beta. J Biol Chem (2000) 0.83
Mutational analysis of functional interfaces of transducin. Methods Enzymol (2000) 0.81
ERGs, cone-isolating VEPs and analytical techniques in children with cone dysfunction syndromes. Doc Ophthalmol (2003) 0.81
Disruption of Bardet-Biedl syndrome ciliary proteins perturbs planar cell polarity in vertebrates. Nat Genet (2005) 4.76
Central serous chorioretinopathy. Acta Ophthalmol (2007) 3.83
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes. Brain (2007) 3.35
Safety and efficacy of ranibizumab in diabetic macular edema (RESOLVE Study): a 12-month, randomized, controlled, double-masked, multicenter phase II study. Diabetes Care (2010) 3.29
Leber congenital amaurosis: comprehensive survey of the genetic heterogeneity, refinement of the clinical definition, and genotype-phenotype correlations as a strategy for molecular diagnosis. Hum Mutat (2004) 3.07
TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum. Nat Genet (2011) 3.06
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet (2006) 2.68
OPA1 mutations associated with dominant optic atrophy impair oxidative phosphorylation and mitochondrial fusion. Brain (2008) 2.57
Comprehensive mutational screening in a cohort of Danish families with hereditary congenital cataract. Invest Ophthalmol Vis Sci (2009) 2.54
Mutations in RDH12 encoding a photoreceptor cell retinol dehydrogenase cause childhood-onset severe retinal dystrophy. Nat Genet (2004) 2.40
CNGB3 mutations account for 50% of all cases with autosomal recessive achromatopsia. Eur J Hum Genet (2005) 2.37
Mutations in HPRP3, a third member of pre-mRNA splicing factor genes, implicated in autosomal dominant retinitis pigmentosa. Hum Mol Genet (2002) 2.34
Activating mutation of the renal epithelial chloride channel ClC-Kb predisposing to hypertension. Hypertension (2004) 2.32
A novel gene for Usher syndrome type 2: mutations in the long isoform of whirlin are associated with retinitis pigmentosa and sensorineural hearing loss. Hum Genet (2006) 2.27
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet (2004) 2.22
Central retinal artery occlusion: local intra-arterial fibrinolysis versus conservative treatment, a multicenter randomized trial. Ophthalmology (2010) 2.21
ASGE Bariatric Endoscopy Task Force systematic review and meta-analysis assessing the ASGE PIVI thresholds for adopting endoscopic bariatric therapies. Gastrointest Endosc (2015) 2.19
Mutations in the cone photoreceptor G-protein alpha-subunit gene GNAT2 in patients with achromatopsia. Am J Hum Genet (2002) 2.10
Imaging of the macula indicates early completion of structural deficit in autosomal-dominant optic atrophy. Ophthalmology (2013) 2.08
Metamorphopsia assessment before and after vitrectomy for macular hole. Invest Ophthalmol Vis Sci (2009) 2.07
Spectrum of NPHP6/CEP290 mutations in Leber congenital amaurosis and delineation of the associated phenotype. Hum Mutat (2007) 2.04
In vivo confocal imaging of the retina in animal models using scanning laser ophthalmoscopy. Vision Res (2005) 2.02
Cone dystrophy with supernormal rod response: novel KCNV2 mutations in an underdiagnosed phenotype. Ophthalmology (2013) 1.99
Ciliopathies with skeletal anomalies and renal insufficiency due to mutations in the IFT-A gene WDR19. Am J Hum Genet (2011) 1.98
Photoreceptor cell death mechanisms in inherited retinal degeneration. Mol Neurobiol (2008) 1.94
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2009) 1.93
PDZD7 is a modifier of retinal disease and a contributor to digenic Usher syndrome. J Clin Invest (2010) 1.85
A splice site mutation in the murine Opa1 gene features pathology of autosomal dominant optic atrophy. Brain (2007) 1.82
Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome. Am J Med Genet A (2003) 1.79
Mutations in CABP4, the gene encoding the Ca2+-binding protein 4, cause autosomal recessive night blindness. Am J Hum Genet (2006) 1.77
Genetic heterogeneity in microcornea-cataract: five novel mutations in CRYAA, CRYGD, and GJA8. Invest Ophthalmol Vis Sci (2007) 1.70
SLC26A4 gene is frequently involved in nonsyndromic hearing impairment with enlarged vestibular aqueduct in Caucasian populations. Eur J Hum Genet (2006) 1.69
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. Hum Mutat (2009) 1.67
A homologous genetic basis of the murine cpfl1 mutant and human achromatopsia linked to mutations in the PDE6C gene. Proc Natl Acad Sci U S A (2009) 1.64
Development of a genotyping microarray for Usher syndrome. J Med Genet (2006) 1.63
Artificial vision with wirelessly powered subretinal electronic implant alpha-IMS. Proc Biol Sci (2013) 1.63
Incidence of legal blindness from age-related macular degeneration in denmark: year 2000 to 2010. Am J Ophthalmol (2012) 1.63
Retinal atrophy in idiopathic central serous chorioretinopathy. Am J Ophthalmol (2002) 1.60
Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta. Am J Hum Genet (2009) 1.58
Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis. Orphanet J Rare Dis (2011) 1.57
A nationwide Danish study of 1027 cases of congenital/infantile cataracts: etiological and clinical classifications. Ophthalmology (2004) 1.56
Comorbidity in patients with branch retinal vein occlusion: case-control study. BMJ (2012) 1.56
Rates of progression in diabetic retinopathy during different time periods: a systematic review and meta-analysis. Diabetes Care (2009) 1.55
Spectrum of USH2A mutations in Scandinavian patients with Usher syndrome type II. Hum Mutat (2008) 1.53
Spatial resolution and perception of patterns mediated by a subretinal 16-electrode array in patients blinded by hereditary retinal dystrophies. Invest Ophthalmol Vis Sci (2011) 1.52
Evaluation of prevalence and clinical implications of anthelmintic resistance in gastrointestinal nematodes in goats. J Am Vet Med Assoc (2003) 1.51
PNPLA6 mutations cause Boucher-Neuhauser and Gordon Holmes syndromes as part of a broad neurodegenerative spectrum. Brain (2013) 1.51
Subfoveal choroidal thickness in relation to sex and axial length in 93 Danish university students. Invest Ophthalmol Vis Sci (2011) 1.50
Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Hum Mutat (2002) 1.48
Mutations in RPGR and RP2 account for 15% of males with simplex retinal degenerative disease. Invest Ophthalmol Vis Sci (2012) 1.47
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum Mutat (2010) 1.47
Mutation analysis of NR2E3 and NRL genes in Enhanced S Cone Syndrome. Hum Mutat (2004) 1.45
Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling. Hum Mutat (2007) 1.44
Retinal neurodegeneration in the DBA/2J mouse-a model for ocular hypertension. Acta Neuropathol (2004) 1.44
IQCB1 mutations in patients with leber congenital amaurosis. Invest Ophthalmol Vis Sci (2011) 1.43
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Am J Hum Genet (2005) 1.43
Deficit of in vivo mitochondrial ATP production in OPA1-related dominant optic atrophy. Ann Neurol (2004) 1.40
[Age-related macular degeneration. The Danish Society of Ophthalmology]. Ugeskr Laeger (2006) 1.39
[Photopsies can have other causes than retinal detachment]. Ugeskr Laeger (2004) 1.39
Viagra (sildenafil citrate) and ophthalmology. Prog Retin Eye Res (2002) 1.37
A nonsense mutation in PDE6H causes autosomal-recessive incomplete achromatopsia. Am J Hum Genet (2012) 1.36
Statistical modeling of global geogenic fluoride contamination in groundwaters. Environ Sci Technol (2008) 1.35
Photodynamic therapy for symptomatic choroidal hemangioma: visual and anatomic results. Ophthalmology (2002) 1.34
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy. Brain (2012) 1.34
Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. Am J Hum Genet (2007) 1.33
Transient ciliogenesis involving Bardet-Biedl syndrome proteins is a fundamental characteristic of adipogenic differentiation. Proc Natl Acad Sci U S A (2009) 1.33
Mutations in NMNAT1 cause Leber congenital amaurosis with early-onset severe macular and optic atrophy. Nat Genet (2012) 1.33
Hereditary optic neuropathies share a common mitochondrial coupling defect. Ann Neurol (2008) 1.33
Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort. Clin J Am Soc Nephrol (2010) 1.32
Exome sequencing of Bardet-Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18). J Med Genet (2013) 1.32
MiRP1 modulates HCN2 channel expression and gating in cardiac myocytes. J Biol Chem (2004) 1.31
Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly. J Med Genet (2012) 1.30
Intrinsically disordered gamma-subunit of cGMP phosphodiesterase encodes functionally relevant transient secondary and tertiary structure. Proc Natl Acad Sci U S A (2008) 1.30
Nonsense mutations in FAM161A cause RP28-associated recessive retinitis pigmentosa. Am J Hum Genet (2010) 1.29
Mutation in the auxiliary calcium-channel subunit CACNA2D4 causes autosomal recessive cone dystrophy. Am J Hum Genet (2006) 1.29
Testing for triallelism: analysis of six BBS genes in a Bardet-Biedl syndrome family cohort. Eur J Hum Genet (2005) 1.28
High-resolution in vivo imaging in achromatopsia. Ophthalmology (2011) 1.27
Stickler syndrome caused by COL2A1 mutations: genotype-phenotype correlation in a series of 100 patients. Eur J Hum Genet (2010) 1.27