Published in Sci Rep on September 30, 2016
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Seven new loci associated with age-related macular degeneration. Nat Genet (2013) 3.81
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Modification of ocular defects in mouse developmental glaucoma models by tyrosinase. Science (2003) 2.41
Peters Plus syndrome is caused by mutations in B3GALTL, a putative glycosyltransferase. Am J Hum Genet (2006) 2.31
ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome. Am J Hum Genet (2004) 2.22
ADAMTS metalloproteases generate active versican fragments that regulate interdigital web regression. Dev Cell (2009) 2.20
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A disintegrin-like and metalloprotease (reprolysin type) with thrombospondin type 1 motifs: the ADAMTS family. Int J Biochem Cell Biol (2004) 2.06
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ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation. Nat Genet (2008) 1.78
Homozygous mutations in ADAMTS10 and ADAMTS17 cause lenticular myopia, ectopia lentis, glaucoma, spherophakia, and short stature. Am J Hum Genet (2009) 1.73
Molecular and developmental mechanisms of anterior segment dysgenesis. Eye (Lond) (2007) 1.62
Heparan sulfate chains of perlecan are indispensable in the lens capsule but not in the kidney. EMBO J (2003) 1.53
Expression of the homeobox gene Pitx2 in neural crest is required for optic stalk and ocular anterior segment development. Hum Mol Genet (2005) 1.47
Anterior segment dysgenesis and the developmental glaucomas are complex traits. Hum Mol Genet (2002) 1.47
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Primary defects in the lens underlie complex anterior segment abnormalities of the Pax6 heterozygous eye. Proc Natl Acad Sci U S A (2001) 1.36
Col4a1 mutation causes endoplasmic reticulum stress and genetically modifiable ocular dysgenesis. Hum Mol Genet (2007) 1.34
The secreted metalloprotease ADAMTS20 is required for melanoblast survival. PLoS Genet (2008) 1.34
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Dominant mutations of Col4a1 result in basement membrane defects which lead to anterior segment dysgenesis and glomerulopathy. Hum Mol Genet (2005) 1.33
The lens capsule. Exp Eye Res (2008) 1.32
O-fucosylation of thrombospondin type 1 repeats in ADAMTS-like-1/punctin-1 regulates secretion: implications for the ADAMTS superfamily. J Biol Chem (2007) 1.31
Protein O-fucosyltransferase 2 adds O-fucose to thrombospondin type 1 repeats. J Biol Chem (2006) 1.28
Foxe3 haploinsufficiency in mice: a model for Peters' anomaly. Invest Ophthalmol Vis Sci (2002) 1.26
Deletion in the promoter region and altered expression of Pitx3 homeobox gene in aphakia mice. Hum Mol Genet (2000) 1.25
Interaction of tropoelastin with the amino-terminal domains of fibrillin-1 and fibrillin-2 suggests a role for the fibrillins in elastic fiber assembly. J Biol Chem (2000) 1.15
Molecular cloning and characterization of a novel human beta1,3-glucosyltransferase, which is localized at the endoplasmic reticulum and glucosylates O-linked fucosylglycan on thrombospondin type 1 repeat domain. Glycobiology (2006) 1.15
Two distinct pathways for O-fucosylation of epidermal growth factor-like or thrombospondin type 1 repeats. J Biol Chem (2006) 1.13
Identification and characterization of abeta1,3-glucosyltransferase that synthesizes the Glc-beta1,3-Fuc disaccharide on thrombospondin type 1 repeats. J Biol Chem (2006) 1.13
Cooperation of two ADAMTS metalloproteases in closure of the mouse palate identifies a requirement for versican proteolysis in regulating palatal mesenchyme proliferation. Development (2010) 1.12
Genomics and anterior segment dysgenesis: a review. Clin Experiment Ophthalmol (2013) 1.11
Reduced versican cleavage due to Adamts9 haploinsufficiency is associated with cardiac and aortic anomalies. Matrix Biol (2010) 1.11
Cell-surface processing of pro-ADAMTS9 by furin. J Biol Chem (2006) 1.11
ADAMTS9 is a cell-autonomously acting, anti-angiogenic metalloprotease expressed by microvascular endothelial cells. Am J Pathol (2010) 1.07
A defect in a novel ADAMTS family member is the cause of the belted white-spotting mutation. Development (2003) 1.06
O-fucosylation of thrombospondin type 1 repeats restricts epithelial to mesenchymal transition (EMT) and maintains epiblast pluripotency during mouse gastrulation. Dev Biol (2010) 1.05
Chromosome abnormalities and the genetics of congenital corneal opacification. Mol Vis (2011) 1.04
Extracellular matrix and integrin signaling in lens development and cataract. Semin Cell Dev Biol (2006) 1.00
Integrins in lens development and disease. Exp Eye Res (2008) 1.00
Insights on ADAMTS proteases and ADAMTS-like proteins from mammalian genetics. Matrix Biol (2015) 0.99
Peters'-plus syndrome is a congenital disorder of glycosylation caused by a defect in the beta1,3-glucosyltransferase that modifies thrombospondin type 1 repeats. Ann Med (2009) 0.96
Whole exome sequence analysis of Peters anomaly. Hum Genet (2014) 0.96
O-fucosylation of thrombospondin type 1 repeats. Methods Enzymol (2010) 0.94
Novel B3GALTL mutations in classic Peters plus syndrome and lack of mutations in a large cohort of patients with similar phenotypes. Clin Genet (2013) 0.93
Ethanol exposure alters early cardiac function in the looping heart: a mechanism for congenital heart defects? Am J Physiol Heart Circ Physiol (2013) 0.91
Peters plus syndrome mutations disrupt a noncanonical ER quality-control mechanism. Curr Biol (2014) 0.91
Chronic central serous chorioretinopathy is associated with genetic variants implicated in age-related macular degeneration. Ophthalmology (2014) 0.88
Peroxidasin is essential for eye development in the mouse. Hum Mol Genet (2014) 0.87
Novel roles for O-linked glycans in protein folding. Glycoconj J (2014) 0.86
Clinical features of anterior segment dysgenesis associated with congenital corneal opacities. Cornea (2012) 0.85
A new Adamts9 conditional mouse allele identifies its non-redundant role in interdigital web regression. Genesis (2014) 0.82
Integrin linked kinase (ILK) is required for lens epithelial cell survival, proliferation and differentiation. Exp Eye Res (2014) 0.82
Structure-function analysis of peroxidasin provides insight into the mechanism of collagen IV crosslinking. Free Radic Biol Med (2015) 0.82
ADAMTS9 locus associates with increased risk of wet AMD. Acta Ophthalmol (2014) 0.81
Lens extrusion from Laminin alpha 1 mutant zebrafish. ScientificWorldJournal (2014) 0.79
Genetic and biochemical evidence that gastrulation defects in Pofut2 mutants result from defects in ADAMTS9 secretion. Dev Biol (2016) 0.77
ADAMTS9-Mediated Extracellular Matrix Dynamics Regulates Umbilical Cord Vascular Smooth Muscle Differentiation and Rotation. Cell Rep (2015) 0.77