Published in Ophthalmic Genet on September 01, 2005
Why do mutations in the ubiquitously expressed housekeeping gene IMPDH1 cause retina-specific photoreceptor degeneration? Invest Ophthalmol Vis Sci (2006) 1.04
Clinical evaluation of two consanguineous families with homozygous mutations in BEST1. Mol Vis (2011) 0.87
A tapetal-like fundus reflex in a healthy male: evidence against a role in the pathophysiology of retinal degeneration? Mol Vis (2012) 0.78
Investigating the mechanism of disease in the RP10 form of retinitis pigmentosa. Adv Exp Med Biol (2010) 0.75
Retinitis pigmentosa. Lancet (2006) 13.62
Retinitis pigmentosa and allied diseases: numerous diseases, genes, and inheritance patterns. Hum Mol Genet (2002) 2.84
Insights from retinitis pigmentosa into the roles of isocitrate dehydrogenases in the Krebs cycle. Nat Genet (2008) 2.58
Defects in RGS9 or its anchor protein R9AP in patients with slow photoreceptor deactivation. Nature (2004) 2.48
Night blindness and abnormal cone electroretinogram ON responses in patients with mutations in the GRM6 gene encoding mGluR6. Proc Natl Acad Sci U S A (2005) 2.36
RP2 and RPGR mutations and clinical correlations in patients with X-linked retinitis pigmentosa. Am J Hum Genet (2003) 1.83
Shared mutations in NR2E3 in enhanced S-cone syndrome, Goldmann-Favre syndrome, and many cases of clumped pigmentary retinal degeneration. Arch Ophthalmol (2003) 1.74
Variation in retinitis pigmentosa-11 (PRPF31 or RP11) gene expression between symptomatic and asymptomatic patients with dominant RP11 mutations. Hum Mutat (2006) 1.71
Premature truncation of a novel protein, RD3, exhibiting subnuclear localization is associated with retinal degeneration. Am J Hum Genet (2006) 1.63
Cone cGMP-gated channel mutations and clinical findings in patients with achromatopsia, macular degeneration, and other hereditary cone diseases. Hum Mutat (2005) 1.52
Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa. Am J Hum Genet (2009) 1.52
Comprehensive screening of the USH2A gene in Usher syndrome type II and non-syndromic recessive retinitis pigmentosa. Exp Eye Res (2004) 1.51
Case records of the Massachusetts General Hospital. Case 5-2006. An 11-year-old girl with loss of vision in the right eye. N Engl J Med (2006) 1.51
Disease progression in patients with dominant retinitis pigmentosa and rhodopsin mutations. Invest Ophthalmol Vis Sci (2002) 1.49
Profile of the genes expressed in the human peripheral retina, macula, and retinal pigment epithelium determined through serial analysis of gene expression (SAGE). Proc Natl Acad Sci U S A (2001) 1.49
The human protease inhibitor cystatin C is an activating cofactor for the streptococcal cysteine protease IdeS. Chem Biol (2008) 1.45
Enzymatic characterization of the streptococcal endopeptidase, IdeS, reveals that it is a cysteine protease with strict specificity for IgG cleavage due to exosite binding. Biochemistry (2004) 1.43
Recessive NRL mutations in patients with clumped pigmentary retinal degeneration and relative preservation of blue cone function. Proc Natl Acad Sci U S A (2004) 1.42
Disease course of patients with X-linked retinitis pigmentosa due to RPGR gene mutations. Invest Ophthalmol Vis Sci (2007) 1.41
Reduced full-field electroretinogram (ERG) in a patient treated with methotrexate. Acta Ophthalmol Scand (2004) 1.40
Cigarette smoking, CFH, APOE, ELOVL4, and risk of neovascular age-related macular degeneration. Arch Ophthalmol (2007) 1.37
Novel mutations in the long isoform of the USH2A gene in patients with Usher syndrome type II or non-syndromic retinitis pigmentosa. J Med Genet (2010) 1.35
Barrier to autointegration factor interacts with the cone-rod homeobox and represses its transactivation function. J Biol Chem (2002) 1.34
Alleles in the HtrA serine peptidase 1 gene alter the risk of neovascular age-related macular degeneration. Ophthalmology (2007) 1.30
Variant phenotype of Best vitelliform macular dystrophy associated with compound heterozygous mutations in VMD2. Ophthalmic Genet (2006) 1.29
A homozygous missense mutation in the IRBP gene (RBP3) associated with autosomal recessive retinitis pigmentosa. Invest Ophthalmol Vis Sci (2008) 1.27
Next generation sequencing of pooled samples reveals new SNRNP200 mutations associated with retinitis pigmentosa. Hum Mutat (2011) 1.23
A novel mutation (I143NT) in guanylate cyclase-activating protein 1 (GCAP1) associated with autosomal dominant cone degeneration. Invest Ophthalmol Vis Sci (2004) 1.19
3D domain-swapped human cystatin C with amyloidlike intermolecular beta-sheets. Proteins (2005) 1.17
Thyroid-associated ophthalmopathy after treatment for Graves' hyperthyroidism with antithyroid drugs or iodine-131. J Clin Endocrinol Metab (2009) 1.14
Screen of the IMPDH1 gene among patients with dominant retinitis pigmentosa and clinical features associated with the most common mutation, Asp226Asn. Invest Ophthalmol Vis Sci (2005) 1.13
Clinicopathologic reports, case reports, and small case series: surgical removal and histopathologic findings of a subfoveal neovascular membrane associated with choroidal osteoma. Arch Ophthalmol (2003) 1.10
Understanding the etiology of Stargardt's disease. Ophthalmol Clin North Am (2002) 1.09
Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene. Invest Ophthalmol Vis Sci (2008) 1.08
The structure of chagasin in complex with a cysteine protease clarifies the binding mode and evolution of an inhibitor family. Structure (2007) 1.03
Specific cysteine protease inhibitors act as deterrents of western flower thrips, Frankliniella occidentalis (Pergande), in transgenic potato. Plant Biotechnol J (2004) 1.00
A single-base substitution within an intronic repetitive element causes dominant retinitis pigmentosa with reduced penetrance. Hum Mutat (2009) 0.99
Full-field electroretinography and marked variability in clinical phenotype of Alström syndrome. Arch Ophthalmol (2008) 0.99
Domain swapping in N-truncated human cystatin C. J Mol Biol (2004) 0.98
Macular dysfunction and morphology in spinocerebellar ataxia type 7 (SCA 7). Ophthalmic Genet (2009) 0.98
Anterior segment abnormalities and angle-closure glaucoma in a family with a mutation in the BEST1 gene and Best vitelliform macular dystrophy. Ophthalmic Genet (2011) 0.97
Cystatin E/M suppresses legumain activity and invasion of human melanoma. BMC Cancer (2010) 0.97
High-grade uveal B-cell lymphoma as the initial feature in Richter syndrome. Arch Ophthalmol (2002) 0.97
Extremely discordant sib-pair study design to determine risk factors for neovascular age-related macular degeneration. Arch Ophthalmol (2004) 0.96
Novel mutations in the NRL gene and associated clinical findings in patients with dominant retinitis pigmentosa. Arch Ophthalmol (2002) 0.96
Cystatin C is downregulated in prostate cancer and modulates invasion of prostate cancer cells via MAPK/Erk and androgen receptor pathways. PLoS One (2009) 0.96
Retinal function after scleral buckling for recent onset rhegmatogenous retinal detachment: assessment with electroretinography and optical coherence tomography. Retina (2007) 0.95
Mutated alleles of the rod and cone Na-Ca+K-exchanger genes in patients with retinal diseases. Invest Ophthalmol Vis Sci (2002) 0.95
Crystal structure of the parasite protease inhibitor chagasin in complex with a host target cysteine protease. J Mol Biol (2007) 0.95
Internalization of cystatin C in human cell lines. FEBS J (2008) 0.94
Histopathologic study of variation in severity of retinitis pigmentosa due to the dominant rhodopsin mutation Pro23His. Am J Ophthalmol (2002) 0.94
Phenotypic expression of the complete type of X-linked congenital stationary night blindness in patients with different mutations in the NYX gene. Graefes Arch Clin Exp Ophthalmol (2002) 0.94
Full-field ERG, multifocal ERG and multifocal VEP in patients with retinitis pigmentosa and residual central visual fields. Acta Ophthalmol Scand (2004) 0.93
Inhibitory properties of cystatin F and its localization in U937 promonocyte cells. FEBS J (2005) 0.93
Solitary myofibroma of the sclera. Cornea (2007) 0.92
Novel mutations in the KCNV2 gene in patients with cone dystrophy and a supernormal rod electroretinogram. Ophthalmic Genet (2007) 0.92
Cleavage of IgG1 and IgG3 by gingipain K from Porphyromonas gingivalis may compromise host defense in progressive periodontitis. FASEB J (2011) 0.91
Multifocal electroretinogram (mfERG) in patients with diabetes mellitus and an enlarged foveal avascular zone (FAZ). Doc Ophthalmol (2008) 0.91
Vitreous levels of oxidative stress biomarkers and the radical-scavenger α1-microglobulin/A1M in human rhegmatogenous retinal detachment. Graefes Arch Clin Exp Ophthalmol (2012) 0.91
Clinical and electrophysiologic outcome in patients with neovascular glaucoma treated with and without bevacizumab. Eur J Ophthalmol (2012) 0.91
Standardized full-field electroretinography in rabbits. Doc Ophthalmol (2004) 0.91
Cystatin C binds serum amyloid A, downregulating its cytokine-generating properties. J Rheumatol (2007) 0.91
Intra- and extracellular regulation of activity and processing of legumain by cystatin E/M. Biochimie (2012) 0.90
Juvenile X-linked retinoschisis with normal scotopic b-wave in the electroretinogram at an early stage of the disease. Ophthalmic Genet (2005) 0.89
Fundus albipunctatus in a 6-year old girl due to compound heterozygous mutations in the RDH5 gene. Doc Ophthalmol (2007) 0.89
Long-term 12 year follow-up of X-linked congenital retinoschisis. Ophthalmic Genet (2010) 0.89
Cystatins in non-small cell lung cancer: tissue levels, localization and relation to prognosis. Oncol Rep (2006) 0.89
Phenotype associated with mutation in the recently identified autosomal dominant retinitis pigmentosa KLHL7 gene. Arch Ophthalmol (2010) 0.89
Attenuation of the retinal nerve fibre layer and reduced retinal function assessed by optical coherence tomography and full-field electroretinography in patients exposed to vigabatrin medication. Acta Ophthalmol (2013) 0.88
Alteration of rod and cone function in children with Usher syndrome. Eur J Ophthalmol (2011) 0.88
Cystatin C modulates neurodegeneration and neurogenesis following status epilepticus in mouse. Neurobiol Dis (2005) 0.88
Macrophage responses to interferon-gamma are dependent on cystatin C levels. Int J Biochem Cell Biol (2009) 0.88
Cystatin C properties crucial for uptake and inhibition of intracellular target enzymes. J Biol Chem (2013) 0.88
Novel mutations in the cellular retinaldehyde-binding protein gene (RLBP1) associated with retinitis punctata albescens: evidence of interfamilial genetic heterogeneity and fundus changes in heterozygotes. Arch Ophthalmol (2004) 0.87
Ocular findings in spinocerebellar ataxia 7. Arch Ophthalmol (2002) 0.87
rd1 mouse retina shows imbalance in cellular distribution and levels of TIMP-1/MMP-9, TIMP-2/MMP-2 and sulfated glycosaminoglycans. Ophthalmic Res (2005) 0.87
Aberrant expression of cystatin C in prostate cancer is associated with neuroendocrine differentiation. BJU Int (2006) 0.87