Published in Hum Mol Genet on July 30, 2007
Unraveling a multifactorial late-onset disease: from genetic susceptibility to disease mechanisms for age-related macular degeneration. Annu Rev Genomics Hum Genet (2009) 2.40
Extreme retinal remodeling triggered by light damage: implications for age related macular degeneration. Mol Vis (2008) 1.77
Copy-number disorders are a common cause of congenital kidney malformations. Am J Hum Genet (2012) 1.63
Fibulin-3 is uniquely upregulated in malignant gliomas and promotes tumor cell motility and invasion. Mol Cancer Res (2009) 1.56
Subretinal drusenoid deposits in non-neovascular age-related macular degeneration: morphology, prevalence, topography, and biogenesis model. Retina (2013) 1.49
Retinal ultrastructure of murine models of dry age-related macular degeneration (AMD). Prog Retin Eye Res (2010) 1.39
Animal models of age related macular degeneration. Mol Aspects Med (2012) 1.39
Cholesterol in the retina: the best is yet to come. Prog Retin Eye Res (2014) 1.27
Comparison of an expanded ataxia interactome with patient medical records reveals a relationship between macular degeneration and ataxia. Hum Mol Genet (2010) 1.16
Gene expression profiling of TGFbeta2- and/or BMP7-treated trabecular meshwork cells: Identification of Smad7 as a critical inhibitor of TGF-beta2 signaling. Exp Eye Res (2009) 1.14
A CTRP5 gene S163R mutation knock-in mouse model for late-onset retinal degeneration. Hum Mol Genet (2011) 1.09
Focus on molecules: fibulin-3 (EFEMP1). Exp Eye Res (2009) 1.09
The Project MACULA Retinal Pigment Epithelium Grading System for Histology and Optical Coherence Tomography in Age-Related Macular Degeneration. Invest Ophthalmol Vis Sci (2015) 1.05
Protein misfolding and retinal degeneration. Cold Spring Harb Perspect Biol (2011) 0.96
Retinal microstructure in patients with EFEMP1 retinal dystrophy evaluated by Fourier domain OCT. Eye (Lond) (2008) 0.91
Compromised mutant EFEMP1 secretion associated with macular dystrophy remedied by proteostasis network alteration. Mol Biol Cell (2011) 0.90
Natural history of age-related retinal lesions that precede AMD in mice fed high or low glycemic index diets. Invest Ophthalmol Vis Sci (2012) 0.90
A novel haplotype with the R345W mutation in the EFEMP1 gene associated with autosomal dominant drusen in a Japanese family. Invest Ophthalmol Vis Sci (2009) 0.89
Translational attenuation differentially alters the fate of disease-associated fibulin proteins. FASEB J (2012) 0.88
Interaction of complement factor h and fibulin3 in age-related macular degeneration. PLoS One (2013) 0.86
Changes in fibroblast mechanostat set point and mechanosensitivity: an adaptive response to mechanical stress in floppy eyelid syndrome. Invest Ophthalmol Vis Sci (2010) 0.85
Risk factors and biomarkers of age-related macular degeneration. Prog Retin Eye Res (2016) 0.85
A high-throughput cell-based Gaussia luciferase reporter assay for identifying modulators of fibulin-3 secretion. J Biomol Screen (2012) 0.84
Mouse genetics and proteomic analyses demonstrate a critical role for complement in a model of DHRD/ML, an inherited macular degeneration. Hum Mol Genet (2013) 0.83
The proteomics of drusen. Cold Spring Harb Perspect Med (2014) 0.80
Genetic ablation of N-linked glycosylation reveals two key folding pathways for R345W fibulin-3, a secreted protein associated with retinal degeneration. FASEB J (2014) 0.80
Fibulin 2, a tyrosine O-sulfated protein, is up-regulated following retinal detachment. J Biol Chem (2014) 0.80
A comparison of some organizational characteristics of the mouse central retina and the human macula. PLoS One (2015) 0.80
A local complement response by RPE causes early-stage macular degeneration. Hum Mol Genet (2015) 0.79
Differential tolerance of 'pseudo-pathogenic' tryptophan residues in calcium-binding EGF domains of short fibulin proteins. Exp Eye Res (2014) 0.79
Pathological Effects of Mutant C1QTNF5 (S163R) Expression in Murine Retinal Pigment Epithelium. Invest Ophthalmol Vis Sci (2015) 0.78
Disruption of murine Adamtsl4 results in zonular fiber detachment from the lens and in retinal pigment epithelium dedifferentiation. Hum Mol Genet (2015) 0.78
A chimeric Cfh transgene leads to increased retinal oxidative stress, inflammation, and accumulation of activated subretinal microglia in mice. Invest Ophthalmol Vis Sci (2015) 0.76
Deletion of Efemp1 Is Protective Against the Development of Sub-RPE Deposits in Mouse Eyes. Invest Ophthalmol Vis Sci (2017) 0.76
Deletion of myosin VI causes slow retinal optic neuropathy and age-related macular degeneration (AMD)-relevant retinal phenotype. Cell Mol Life Sci (2015) 0.76
Targeting of exon VI-skipping human RGR-opsin to the plasma membrane of pigment epithelium and co-localization with terminal complement complex C5b-9. Mol Vis (2016) 0.75
Exome Sequencing Identifies a Missense Variant in EFEMP1 Co-Segregating in a Family with Autosomal Dominant Primary Open-Angle Glaucoma. PLoS One (2015) 0.75
Absence of DJ-1 causes age-related retinal abnormalities in association with increased oxidative stress. Free Radic Biol Med (2017) 0.75
Early AMD-like defects in the RPE and retinal degeneration in aged mice with RPE-specific deletion of Atg5 or Atg7. Mol Vis (2017) 0.75
Drusen in patient-derived hiPSC-RPE models of macular dystrophies. Proc Natl Acad Sci U S A (2017) 0.75
Mutant Fibulin-3 Causes Proteoglycan Accumulation and Impaired Diffusion Across Bruch's Membrane. Invest Ophthalmol Vis Sci (2017) 0.75
Genetic variants near TIMP3 and high-density lipoprotein-associated loci influence susceptibility to age-related macular degeneration. Proc Natl Acad Sci U S A (2010) 4.30
A simplified laminin nomenclature. Matrix Biol (2005) 3.81
Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81
Norrin, frizzled-4, and Lrp5 signaling in endothelial cells controls a genetic program for retinal vascularization. Cell (2009) 2.63
Fibulins: a versatile family of extracellular matrix proteins. Nat Rev Mol Cell Biol (2003) 2.55
A transient receptor potential-like channel mediates synaptic transmission in rod bipolar cells. J Neurosci (2009) 2.35
ADAMTS metalloproteases generate active versican fragments that regulate interdigital web regression. Dev Cell (2009) 2.20
The light peak of the electroretinogram is dependent on voltage-gated calcium channels and antagonized by bestrophin (best-1). J Gen Physiol (2006) 2.18
A comparative analysis of the fibulin protein family. Biochemical characterization, binding interactions, and tissue localization. J Biol Chem (2007) 2.12
The nob2 mouse, a null mutation in Cacna1f: anatomical and functional abnormalities in the outer retina and their consequences on ganglion cell visual responses. Vis Neurosci (2006) 2.10
Inhibition of brain tumor growth by intravenous poly (β-L-malic acid) nanobioconjugate with pH-dependent drug release [corrected]. Proc Natl Acad Sci U S A (2010) 2.05
Proteomics reveal Cochlin deposits associated with glaucomatous trabecular meshwork. J Biol Chem (2004) 2.00
Targeted disruption of fibulin-4 abolishes elastogenesis and causes perinatal lethality in mice. Mol Cell Biol (2006) 1.97
Tmem16A encodes the Ca2+-activated Cl- channel in mouse submandibular salivary gland acinar cells. J Biol Chem (2010) 1.93
Targeting of bone morphogenetic protein growth factor complexes to fibrillin. J Biol Chem (2008) 1.80
Role of the beta(2) subunit of voltage-dependent calcium channels in the retinal outer plexiform layer. Invest Ophthalmol Vis Sci (2002) 1.79
Conversion of mechanical force into TGF-β-mediated biochemical signals. Curr Biol (2011) 1.74
Latent transforming growth factor beta-binding proteins and fibulins compete for fibrillin-1 and exhibit exquisite specificities in binding sites. J Biol Chem (2009) 1.73
Neuronal pentraxins mediate synaptic refinement in the developing visual system. J Neurosci (2006) 1.71
Aberrant accumulation of EFEMP1 underlies drusen formation in Malattia Leventinese and age-related macular degeneration. Proc Natl Acad Sci U S A (2002) 1.67
TREK-1 and Best1 channels mediate fast and slow glutamate release in astrocytes upon GPCR activation. Cell (2012) 1.60
Fibrillin-1 interactions with fibulins depend on the first hybrid domain and provide an adaptor function to tropoelastin. J Biol Chem (2007) 1.56
Human retinal pigment epithelium cells as functional models for the RPE in vivo. Invest Ophthalmol Vis Sci (2011) 1.55
Functional roles of bestrophins in ocular epithelia. Prog Retin Eye Res (2009) 1.52
Patterns of laminins and integrins in the embryonic ventricular zone of the CNS. J Comp Neurol (2007) 1.51
Lack of fibulin-3 causes early aging and herniation, but not macular degeneration in mice. Hum Mol Genet (2007) 1.50
Genetic heterogeneity of cutis laxa: a heterozygous tandem duplication within the fibulin-5 (FBLN5) gene. Am J Hum Genet (2003) 1.49
Mutations in the RPGR gene cause X-linked cone dystrophy. Hum Mol Genet (2002) 1.47
Identification of the gene and the mutation responsible for the mouse nob phenotype. Invest Ophthalmol Vis Sci (2003) 1.47
Nyctalopin expression in retinal bipolar cells restores visual function in a mouse model of complete X-linked congenital stationary night blindness. J Neurophysiol (2007) 1.46
Expression and localization of bestrophin during normal mouse development. Invest Ophthalmol Vis Sci (2003) 1.45
Bilateral macular lesions in a 10-year-old girl. Am J Ophthalmol (2006) 1.40
Assessing susceptibility to age-related macular degeneration with proteomic and genomic biomarkers. Mol Cell Proteomics (2009) 1.39
Class 5 transmembrane semaphorins control selective Mammalian retinal lamination and function. Neuron (2011) 1.39
Elimination of the rho1 subunit abolishes GABA(C) receptor expression and alters visual processing in the mouse retina. J Neurosci (2002) 1.39
Decreased expression of angiogenesis antagonist EFEMP1 in sporadic breast cancer is caused by aberrant promoter methylation and points to an impact of EFEMP1 as molecular biomarker. Int J Cancer (2009) 1.37
Quiescence and activation of stem and precursor cell populations in the subependymal zone of the mammalian brain are associated with distinct cellular and extracellular matrix signals. J Neurosci (2010) 1.36
Structural basis of sequence-specific collagen recognition by SPARC. Proc Natl Acad Sci U S A (2008) 1.35
Ocular abnormalities in Large(myd) and Large(vls) mice, spontaneous models for muscle, eye, and brain diseases. Mol Cell Neurosci (2005) 1.33
Proteinases of the bone morphogenetic protein-1 family convert procollagen VII to mature anchoring fibril collagen. J Biol Chem (2002) 1.32
Compound heterozygous mutations in fibulin-4 causing neonatal lethal pulmonary artery occlusion, aortic aneurysm, arachnodactyly, and mild cutis laxa. Am J Med Genet A (2007) 1.29
Temporal properties of the mouse cone electroretinogram. J Neurophysiol (2002) 1.28
Compositional differences between infant and adult human corneal basement membranes. Invest Ophthalmol Vis Sci (2007) 1.25
Pharmacological studies of the mouse cone electroretinogram. Vis Neurosci (2005) 1.24
A model of best vitelliform macular dystrophy in rats. Invest Ophthalmol Vis Sci (2004) 1.23
Prodomains of transforming growth factor beta (TGFbeta) superfamily members specify different functions: extracellular matrix interactions and growth factor bioavailability. J Biol Chem (2010) 1.23
Immunohistochemical analysis of the outer plexiform layer in the nob mouse shows no abnormalities. Vis Neurosci (2003) 1.23
A missense mutation in the aggrecan C-type lectin domain disrupts extracellular matrix interactions and causes dominant familial osteochondritis dissecans. Am J Hum Genet (2010) 1.22
Bestrophin-2 is involved in the generation of intraocular pressure. Invest Ophthalmol Vis Sci (2008) 1.22
Binding of mouse nidogen-2 to basement membrane components and cells and its expression in embryonic and adult tissues suggest complementary functions of the two nidogens. Exp Cell Res (2002) 1.21
Mapping of SPARC/BM-40/osteonectin-binding sites on fibrillar collagens. J Biol Chem (2008) 1.21
Cochlin deposits in the trabecular meshwork of the glaucomatous DBA/2J mouse. Exp Eye Res (2005) 1.20
Light-evoked responses of the mouse retinal pigment epithelium. J Neurophysiol (2003) 1.20
Subretinal implantation of semiconductor-based photodiodes: durability of novel implant designs. J Rehabil Res Dev (2002) 1.20
Conditional inactivation of TGF-β type II receptor in smooth muscle cells and epicardium causes lethal aortic and cardiac defects. Transgenic Res (2010) 1.19
Enhanced inflow and outflow rates despite lower IOP in bestrophin-2-deficient mice. Invest Ophthalmol Vis Sci (2008) 1.19
Mutations in Lama1 disrupt retinal vascular development and inner limiting membrane formation. J Biol Chem (2010) 1.19
Membrane frizzled-related protein is necessary for the normal development and maintenance of photoreceptor outer segments. Vis Neurosci (2008) 1.18
Activities of the matrix metalloproteinase stromelysin-2 (MMP-10) in matrix degradation and keratinocyte organization in wounded skin. Mol Biol Cell (2004) 1.18
Association between laminin-8 and glial tumor grade, recurrence, and patient survival. Cancer (2004) 1.18
Guidance-cue control of horizontal cell morphology, lamination, and synapse formation in the mammalian outer retina. J Neurosci (2012) 1.17
Nidogen 1 and 2 gene promoters are aberrantly methylated in human gastrointestinal cancer. Mol Cancer (2007) 1.17
Retinal degeneration in a rodent model of Smith-Lemli-Opitz syndrome: electrophysiologic, biochemical, and morphologic features. Arch Ophthalmol (2004) 1.16
Distinct requirements for heparin and alpha-dystroglycan binding revealed by structure-based mutagenesis of the laminin alpha2 LG4-LG5 domain pair. J Mol Biol (2003) 1.16
Alternative splicing in the aggrecan G3 domain influences binding interactions with tenascin-C and other extracellular matrix proteins. J Biol Chem (2004) 1.15
Endostatin regulates endothelial cell adhesion and cytoskeletal organization. Cancer Res (2002) 1.15
Suppression of Ca2+ signaling in a mouse model of Best disease. Hum Mol Genet (2010) 1.14
Interaction between the photoreceptor-specific tubby-like protein 1 and the neuronal-specific GTPase dynamin-1. Invest Ophthalmol Vis Sci (2007) 1.14
Hydrodynamic properties of porcine bestrophin-1 in Triton X-100. Biochim Biophys Acta (2006) 1.13
Forkhead transcription factor FoxA1 regulates sweat secretion through Bestrophin 2 anion channel and Na-K-Cl cotransporter 1. Proc Natl Acad Sci U S A (2012) 1.13
Bestrophin interacts physically and functionally with protein phosphatase 2A. J Biol Chem (2002) 1.13
Disruption of perlecan binding and matrix assembly by post-translational or genetic disruption of dystroglycan function. FEBS Lett (2005) 1.12
Proteinase and growth factor alterations revealed by gene microarray analysis of human diabetic corneas. Invest Ophthalmol Vis Sci (2005) 1.12
Overexpression of beta1-chain-containing laminins in capillary basement membranes of human breast cancer and its metastases. Breast Cancer Res (2005) 1.12
Voltage-dependent calcium channel CaV1.3 subunits regulate the light peak of the electroretinogram. J Neurophysiol (2007) 1.10
A fibronectin-independent mechanism of collagen fibrillogenesis in adult liver remodeling. Gastroenterology (2011) 1.09
Alterations of extracellular matrix components and proteinases in human corneal buttons with INTACS for post-laser in situ keratomileusis keratectasia and keratoconus. Cornea (2008) 1.08
The leucine-rich repeat protein PRELP binds perlecan and collagens and may function as a basement membrane anchor. J Biol Chem (2002) 1.08
Tubby-like protein 1 (TULP1) interacts with F-actin in photoreceptor cells. Invest Ophthalmol Vis Sci (2005) 1.08
Role of heparan sulfate domain organization in endostatin inhibition of endothelial cell function. EMBO J (2002) 1.07
Pharmacological analysis of the rat cone electroretinogram. Vis Neurosci (2003) 1.07
The major basement membrane components localize to the chondrocyte pericellular matrix--a cartilage basement membrane equivalent? Matrix Biol (2007) 1.06
Complete sequence, recombinant analysis and binding to laminins and sulphated ligands of the N-terminal domains of laminin alpha3B and alpha5 chains. Biochem J (2002) 1.06
Noninvasive recording and response characteristics of the rat dc-electroretinogram. Vis Neurosci (2003) 1.06
Chondroitin sulfate perlecan enhances collagen fibril formation. Implications for perlecan chondrodysplasias. J Biol Chem (2006) 1.06
Targeted inactivation of murine laminin gamma2-chain gene recapitulates human junctional epidermolysis bullosa. J Invest Dermatol (2003) 1.06
Protein database, human retinal pigment epithelium. Mol Cell Proteomics (2003) 1.05
Evidence of nidogen-2 compensation for nidogen-1 deficiency in transgenic mice. Matrix Biol (2002) 1.05
A 32 kb critical region excluding Y402H in CFH mediates risk for age-related macular degeneration. PLoS One (2011) 1.05
Microenvironmental regulation by fibrillin-1. PLoS Genet (2012) 1.05
Laminin gamma3 chain binds to nidogen and is located in murine basement membranes. J Biol Chem (2005) 1.05
Mutations in COCH that result in non-syndromic autosomal dominant deafness (DFNA9) affect matrix deposition of cochlin. Hum Genet (2003) 1.05