Published in Nat Genet on May 01, 2011
Genome-wide meta-analyses of multiancestry cohorts identify multiple new susceptibility loci for refractive error and myopia. Nat Genet (2013) 2.36
Genome-wide analysis points to roles for extracellular matrix remodeling, the visual cycle, and neuronal development in myopia. PLoS Genet (2013) 1.68
Molecular genetics in glaucoma. Exp Eye Res (2011) 1.47
Investigation of known genetic risk factors for primary open angle glaucoma in two populations of African ancestry. Invest Ophthalmol Vis Sci (2013) 1.10
Mutations in a novel serine protease PRSS56 in families with nanophthalmos. Mol Vis (2011) 0.99
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The genetic mechanisms of primary angle closure glaucoma. Eye (Lond) (2015) 0.88
Identification of genetic loci associated with primary angle-closure glaucoma in the basset hound. Mol Vis (2014) 0.83
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Melanopsin-expressing retinal ganglion cell loss and behavioral analysis in the Thy1-CFP-DBA/2J mouse model of glaucoma. Sci China Life Sci (2013) 0.79
Gene profiling of postnatal Mfrprd6 mutant eyes reveals differential accumulation of Prss56, visual cycle and phototransduction mRNAs. PLoS One (2014) 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
An In Vitro Perfusion System to Enhance Outflow Studies in Mouse Eyes. Invest Ophthalmol Vis Sci (2016) 0.77
Boundary Caps Give Rise to Neurogenic Stem Cells and Terminal Glia in the Skin. Stem Cell Reports (2015) 0.77
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Evaluation of PRSS56 in Chinese subjects with high hyperopia or primary angle-closure glaucoma. Mol Vis (2013) 0.76
Animal models of exfoliation syndrome, now and future. J Glaucoma (2014) 0.76
YBR/EiJ mice: a new model of glaucoma caused by genes on chromosomes 4 and 17. Dis Model Mech (2016) 0.75
Genetic dissection of anterior segment dysgenesis caused by a Col4a1 mutation in mouse. Dis Model Mech (2017) 0.75
Loss of Zebrafish Mfrp Causes Nanophthalmia, Hyperopia, and Accumulation of Subretinal Macrophages. Invest Ophthalmol Vis Sci (2016) 0.75
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The DNA sequence of the human X chromosome. Nature (2005) 6.97
Role of COL4A1 in small-vessel disease and hemorrhagic stroke. N Engl J Med (2006) 3.58
Axons of retinal ganglion cells are insulted in the optic nerve early in DBA/2J glaucoma. J Cell Biol (2007) 3.45
Mutations in genes encoding melanosomal proteins cause pigmentary glaucoma in DBA/2J mice. Nat Genet (2001) 3.30
Comprehensive assessment of array-based platforms and calling algorithms for detection of copy number variants. Nat Biotechnol (2011) 3.25
Retinal ganglion cell degeneration is topological but not cell type specific in DBA/2J mice. J Cell Biol (2005) 2.98
Mutations in Col4a1 cause perinatal cerebral hemorrhage and porencephaly. Science (2005) 2.92
Inherited glaucoma in DBA/2J mice: pertinent disease features for studying the neurodegeneration. Vis Neurosci (2005) 2.86
Mutations in the RNA granule component TDRD7 cause cataract and glaucoma. Science (2011) 2.78
CRB1 is essential for external limiting membrane integrity and photoreceptor morphogenesis in the mammalian retina. Hum Mol Genet (2003) 2.77
mdr-1 single nucleotide polymorphisms in ovarian cancer tissue: G2677T/A correlates with response to paclitaxel chemotherapy. Clin Cancer Res (2006) 2.76
Susceptibility to neurodegeneration in a glaucoma is modified by Bax gene dosage. PLoS Genet (2005) 2.68
Modification of ocular defects in mouse developmental glaucoma models by tyrosinase. Science (2003) 2.41
Usher syndrome type I G (USH1G) is caused by mutations in the gene encoding SANS, a protein that associates with the USH1C protein, harmonin. Hum Mol Genet (2003) 2.37
Molecular clustering identifies complement and endothelin induction as early events in a mouse model of glaucoma. J Clin Invest (2011) 2.25
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A TLR4 polymorphism is associated with asthma and reduced lipopolysaccharide-induced interleukin-12(p70) responses in Swedish children. J Allergy Clin Immunol (2004) 2.12
Molecular phenotyping for analyzing subtle genetic effects in mice: application to an angiotensinogen gene titration. Proc Natl Acad Sci U S A (2002) 2.08
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Control of bud activation by an auxin transport switch. Proc Natl Acad Sci U S A (2009) 1.97
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Drug-induced acute angle closure glaucoma. Curr Opin Ophthalmol (2007) 1.85
Complex genetics of glaucoma susceptibility. Annu Rev Genomics Hum Genet (2005) 1.85
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A robust system for RNA interference in the chicken using a modified microRNA operon. Dev Biol (2006) 1.83
Mutations of LRTOMT, a fusion gene with alternative reading frames, cause nonsyndromic deafness in humans. Nat Genet (2008) 1.78
Mechanical regulation of auxin-mediated growth. Curr Biol (2012) 1.71
Reduced retina microglial activation and improved optic nerve integrity with minocycline treatment in the DBA/2J mouse model of glaucoma. Invest Ophthalmol Vis Sci (2008) 1.69
Under pressure: cellular and molecular responses during glaucoma, a common neurodegeneration with axonopathy. Annu Rev Neurosci (2012) 1.65
Proteomic approaches for discovering biomarkers of diabetic nephropathy. Nephrol Dial Transplant (2010) 1.64
Effects of pressure overload on extracellular matrix expression in the heart of the atrial natriuretic peptide-null mouse. Hypertension (2003) 1.61
Genetics and clinical characteristics of hereditary pheochromocytomas and paragangliomas. Endocr Relat Cancer (2011) 1.59
Aberrant actin cytoskeleton leads to accelerated proliferation of corneal epithelial cells in mice deficient for destrin (actin depolymerizing factor). Hum Mol Genet (2003) 1.58
High-dose radiation with bone marrow transfer prevents neurodegeneration in an inherited glaucoma. Proc Natl Acad Sci U S A (2005) 1.55
Genetic context determines susceptibility to intraocular pressure elevation in a mouse pigmentary glaucoma. BMC Biol (2006) 1.52
Anterior segment development relevant to glaucoma. Int J Dev Biol (2004) 1.50
Absence of glaucoma in DBA/2J mice homozygous for wild-type versions of Gpnmb and Tyrp1. BMC Genet (2007) 1.48
Myelination transition zone astrocytes are constitutively phagocytic and have synuclein dependent reactivity in glaucoma. Proc Natl Acad Sci U S A (2011) 1.47
Anterior segment dysgenesis and the developmental glaucomas are complex traits. Hum Mol Genet (2002) 1.47
Fierce: a new mouse deletion of Nr2e1; violent behaviour and ocular abnormalities are background-dependent. Behav Brain Res (2002) 1.44
Radiation treatment inhibits monocyte entry into the optic nerve head and prevents neuronal damage in a mouse model of glaucoma. J Clin Invest (2012) 1.44
A candidate gene for congenital bilateral isolated ptosis identified by molecular analysis of a de novo balanced translocation. Hum Genet (2002) 1.41
A patient with a phenotype of adult-onset still disease, but a genotype typical of cryopyrin-associated periodic fever syndrome. J Rheumatol (2013) 1.39
By altering ocular immune privilege, bone marrow-derived cells pathogenically contribute to DBA/2J pigmentary glaucoma. J Exp Med (2003) 1.39
Tag STS in the AZF region associated with azoospermia in a Tunisian population. J Androl (2007) 1.38
Allelic variance between GRM6 mutants, Grm6nob3 and Grm6nob4 results in differences in retinal ganglion cell visual responses. J Physiol (2008) 1.36
The Q705K polymorphism in NLRP3 is a gain-of-function alteration leading to excessive interleukin-1β and IL-18 production. PLoS One (2012) 1.36
Leaf shape evolution through duplication, regulatory diversification, and loss of a homeobox gene. Science (2014) 1.35
Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis. Hum Mol Genet (2007) 1.34
Ocular abnormalities in Large(myd) and Large(vls) mice, spontaneous models for muscle, eye, and brain diseases. Mol Cell Neurosci (2005) 1.33
Gene polymorphisms in the NALP3 inflammasome are associated with interleukin-1 production and severe inflammation: relation to common inflammatory diseases? Arthritis Rheum (2008) 1.30
Combined polymorphisms in genes encoding the inflammasome components NALP3 and CARD8 confer susceptibility to Crohn's disease in Swedish men. Am J Gastroenterol (2009) 1.26
JNK2 and JNK3 are major regulators of axonal injury-induced retinal ganglion cell death. Neurobiol Dis (2012) 1.25
Genetically increasing Myoc expression supports a necessary pathologic role of abnormal proteins in glaucoma. Mol Cell Biol (2004) 1.23
The glucocorticoid receptor heterocomplex gene STIP1 is associated with improved lung function in asthmatic subjects treated with inhaled corticosteroids. J Allergy Clin Immunol (2009) 1.21
Integrating force-sensing and signaling pathways in a model for the regulation of wing imaginal disc size. Development (2012) 1.20
Mutations in Lama1 disrupt retinal vascular development and inner limiting membrane formation. J Biol Chem (2010) 1.19
Exploring the two-gene ratio in breast cancer--independent roles for HOXB13 and IL17BR in prediction of clinical outcome. Breast Cancer Res Treat (2007) 1.19
Leaf asymmetry as a developmental constraint imposed by auxin-dependent phyllotactic patterning. Plant Cell (2012) 1.18
A bHLH complex controls embryonic vascular tissue establishment and indeterminate growth in Arabidopsis. Dev Cell (2013) 1.18
Cellular force microscopy for in vivo measurements of plant tissue mechanics. Plant Physiol (2012) 1.18
Membrane frizzled-related protein is necessary for the normal development and maintenance of photoreceptor outer segments. Vis Neurosci (2008) 1.18
Positional information by differential endocytosis splits auxin response to drive Arabidopsis root meristem growth. Curr Biol (2011) 1.16
TMC1 but not TMC2 is responsible for autosomal recessive nonsyndromic hearing impairment in Tunisian families. Audiol Neurootol (2008) 1.16
Glaucomatous optic nerve injury involves early astrocyte reactivity and late oligodendrocyte loss. Glia (2010) 1.14
Inflammasome polymorphisms confer susceptibility to sporadic malignant melanoma. Pigment Cell Melanoma Res (2012) 1.13
Mutations in a P-type ATPase gene cause axonal degeneration. PLoS Genet (2012) 1.11
Identification of two new mutations in the GPR98 and the PDE6B genes segregating in a Tunisian family. Eur J Hum Genet (2008) 1.11