Published in Ophthalmic Genet on December 01, 2010
The human dynamin-related protein OPA1 is anchored to the mitochondrial inner membrane facing the inter-membrane space. FEBS Lett (2002) 2.30
TRPM1 is mutated in patients with autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2009) 1.93
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. Hum Mutat (2009) 1.67
OPA1 (Kjer type) dominant optic atrophy: a novel mitochondrial disease. Mol Genet Metab (2002) 1.65
Enrichment of LOVD-USHbases with 152 USH2A genotypes defines an extensive mutational spectrum and highlights missense hotspots. Hum Mutat (2014) 1.45
Assessment of the efficacy of commercially available and candidate vaccines against a pandemic H1N1 2009 virus. J Infect Dis (2010) 1.43
Lack of fundus autofluorescence to 488 nanometers from childhood on in patients with early-onset severe retinal dystrophy associated with mutations in RPE65. Ophthalmology (2004) 1.39
Caspase inhibitors, but not c-Jun NH2-terminal kinase inhibitor treatment, prevent cisplatin-induced hearing loss. Cancer Res (2004) 1.39
Extensive macular atrophy with pseudodrusen-like appearance: a new clinical entity. Am J Ophthalmol (2009) 1.38
Mutations in TOPORS cause autosomal dominant retinitis pigmentosa with perivascular retinal pigment epithelium atrophy. Am J Hum Genet (2007) 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
Mutations in CNNM4 cause recessive cone-rod dystrophy with amelogenesis imperfecta. Am J Hum Genet (2009) 1.28
Whole-exome sequencing identifies mutations in GPR179 leading to autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2012) 1.25
Whole-exome sequencing identifies LRIT3 mutations as a cause of autosomal-recessive complete congenital stationary night blindness. Am J Hum Genet (2012) 1.18
Type I IFN triggers RIG-I/TLR3/NLRP3-dependent inflammasome activation in influenza A virus infected cells. PLoS Pathog (2013) 1.18
OPA1 links human mitochondrial genome maintenance to mtDNA replication and distribution. Genome Res (2010) 1.17
Genotyping microarray for CSNB-associated genes. Invest Ophthalmol Vis Sci (2009) 1.10
Deafness and cochlear fibrocyte alterations in mice deficient for the inner ear protein otospiralin. Mol Cell Biol (2005) 1.09
Expression of the Opa1 mitochondrial protein in retinal ganglion cells: its downregulation causes aggregation of the mitochondrial network. Invest Ophthalmol Vis Sci (2005) 1.06
BBS1 mutations in a wide spectrum of phenotypes ranging from nonsyndromic retinitis pigmentosa to Bardet-Biedl syndrome. Arch Ophthalmol (2012) 1.06
Spectrum of rhodopsin mutations in French autosomal dominant rod-cone dystrophy patients. Invest Ophthalmol Vis Sci (2010) 1.05
The human OPA1delTTAG mutation induces premature age-related systemic neurodegeneration in mouse. Brain (2012) 1.03
Anti-inflammatory role in septic shock of pituitary adenylate cyclase-activating polypeptide receptor. Proc Natl Acad Sci U S A (2002) 1.02
Altered social behavior in pituitary adenylate cyclase-activating polypeptide type I receptor-deficient mice. J Neurosci (2004) 0.99
Cellular immune response in the presence of protective antibody levels correlates with protection against 1918 influenza in ferrets. Vaccine (2011) 0.98
Study of a novel hypervariable region in hepatitis C virus (HCV) E2 envelope glycoprotein. Virology (2006) 0.97
Mice lacking the PACAP type I receptor have impaired photic entrainment and negative masking. Am J Physiol Regul Integr Comp Physiol (2008) 0.96
Pituitary adenylate cyclase-activating polypeptide inhibits food intake in mice through activation of the hypothalamic melanocortin system. Neuropsychopharmacology (2008) 0.96
Mutations in IMPG1 cause vitelliform macular dystrophies. Am J Hum Genet (2013) 0.96
A novel CACNA1F mutation in a french family with the incomplete type of X-linked congenital stationary night blindness. Am J Ophthalmol (2003) 0.93
Homozygous deletion related to Alu repeats in RLBP1 causes retinitis punctata albescens. Invest Ophthalmol Vis Sci (2006) 0.92
Phenotypic diversity and mutation spectrum in hypotrichosis with juvenile macular dystrophy. J Invest Dermatol (2003) 0.91
High frequency of COH1 intragenic deletions and duplications detected by MLPA in patients with Cohen syndrome. Eur J Hum Genet (2010) 0.91
Homozygous mutation in MERTK causes severe autosomal recessive retinitis pigmentosa. Eur J Ophthalmol (2012) 0.90
Downregulation of otospiralin, a novel inner ear protein, causes hair cell degeneration and deafness. J Neurosci (2002) 0.90
Screening genes of the retinoid metabolism: novel LRAT mutation in leber congenital amaurosis. Am J Ophthalmol (2006) 0.89
Identification of preferentially expressed mRNAs in retina and cochlea. DNA Cell Biol (2002) 0.87
Combining gene mapping and phenotype assessment for fast mutation finding in non-consanguineous autosomal recessive retinitis pigmentosa families. Eur J Hum Genet (2011) 0.87
Relative frequencies of inherited retinal dystrophies and optic neuropathies in Southern France: assessment of 21-year data management. Ophthalmic Epidemiol (2013) 0.86
Novel KCNV2 mutations in cone dystrophy with supernormal rod electroretinogram. Am J Ophthalmol (2008) 0.85
Homozygosity mapping in autosomal recessive retinitis pigmentosa families detects novel mutations. Mol Vis (2013) 0.85
FATP1 inhibits 11-cis retinol formation via interaction with the visual cycle retinoid isomerase RPE65 and lecithin:retinol acyltransferase. J Biol Chem (2010) 0.84
Systematic screening of BEST1 and PRPH2 in juvenile and adult vitelliform macular dystrophies: a rationale for molecular analysis. Ophthalmology (2011) 0.84
Mosaic synaptopathy and functional defects in Cav1.4 heterozygous mice and human carriers of CSNB2. Hum Mol Genet (2013) 0.84
VPAC2 receptors mediate vasoactive intestinal peptide-induced neuroprotection against neonatal excitotoxic brain lesions in mice. J Pharmacol Exp Ther (2005) 0.84
Transcription of the mouse PAC1 receptor gene: cell-specific expression and regulation by Zac1. Biochim Biophys Acta (2002) 0.82
Pituitary adenylate cyclase-activating polypeptide receptors mediating insulin secretion in rodent pancreatic islets are coupled to adenylate cyclase but not to PLC. Endocrinology (2002) 0.81
Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel. Hum Mutat (2010) 0.81
Pea3 transcription factor cooperates with USF-1 in regulation of the murine bax transcription without binding to an Ets-binding site. J Biol Chem (2004) 0.81
Electrophysiological retinal pigment epithelium changes observed with indocyanine green, trypan blue and triamcinolone. Ophthalmic Res (2010) 0.81
Simple and efficient: validation of a cotton wick electrode for animal electroretinography. Ophthalmic Res (2010) 0.80
Gene structure and chromosomal localization of mouse Opa1 : its exclusion from the Bst locus. BMC Genet (2003) 0.80
Granule cell survival is deficient in PAC1-/- mutant cerebellum. J Mol Neurosci (2008) 0.79
RRH, encoding the RPE-expressed opsin-like peropsin, is not mutated in retinitis pigmentosa and allied diseases. Ophthalmic Genet (2007) 0.79
Cathepsin L and cystatin B gene expression discriminates immune coelomic cells in the leech Theromyzon tessulatum. Dev Comp Immunol (2007) 0.79
Early-onset foveal involvement in retinitis punctata albescens with mutations in RLBP1. JAMA Ophthalmol (2013) 0.78
Up-regulation of the PACAP type-1 receptor (PAC1) promoter by neurotrophins in rat PC12 cells and mouse cerebellar granule cells via the Ras/mitogen-activated protein kinase cascade. J Neurochem (2002) 0.78
Screening for a canine model of choroideremia exclusively identifies nonpathogenic CHM variants. Ophthalmic Res (2010) 0.78
How can we prevent myopia progression? Eur J Ophthalmol (2015) 0.78
Gene structure, chromosomal localization, and mutation screening of the human gene for the inner ear protein otospiralin. Neurogenetics (2003) 0.77
What similarity between human and fission yeast proteins is required for orthology? Yeast (2002) 0.77
A novel locus (CORD12) for autosomal dominant cone-rod dystrophy on chromosome 2q24.2-2q33.1. BMC Med Genet (2011) 0.77
Choroideremia: towards a therapy. Am J Ophthalmol (2013) 0.76
Cataract as a phenotypic marker for a mutation in WFS1, the Wolfram syndrome gene. Eur J Ophthalmol (2012) 0.76
Fatp1 deficiency affects retinal light response and dark adaptation, and induces age-related alterations. PLoS One (2012) 0.75
Clinical utility gene card for: achromatopsia. Eur J Hum Genet (2011) 0.75
Clinical utility gene card for: blue cone monochromatism. Eur J Hum Genet (2011) 0.75