Age-dependent prevalence of mutations at the GLC1A locus in primary open-angle glaucoma.

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Published in Am J Ophthalmol on August 01, 2000

Authors

S Shimizu1, P R Lichter, A T Johnson, Z Zhou, M Higashi, M Gottfredsdottir, M Othman, S E Moroi, F W Rozsa, R M Schertzer, M S Clarke, A L Schwartz, C A Downs, D Vollrath, J E Richards

Author Affiliations

1: Department of Ophthalmology and Visual Sciences, University of Michigan Medical School, Ann Arbor, Michigan 48105, USA.

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Separation of large DNA molecules by contour-clamped homogeneous electric fields. Science (1986) 21.33

A gene map of the human genome. Science (1996) 14.32

Cloning human fetal gamma globin and mouse alpha-type globin DNA: preparation and screening of shotgun collections. Science (1978) 8.24

Intracellular site of asialoglycoprotein receptor-ligand uncoupling: double-label immunoelectron microscopy during receptor-mediated endocytosis. Cell (1983) 6.89

Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography. Genome Res (1997) 6.73

The DNA replication and damage checkpoint pathways induce transcription by inhibition of the Crt1 repressor. Cell (1998) 5.37

The SAD1/RAD53 protein kinase controls multiple checkpoints and DNA damage-induced transcription in yeast. Genes Dev (1994) 5.20

DNA polymerase epsilon links the DNA replication machinery to the S phase checkpoint. Cell (1995) 4.90

Kinetics of internalization and recycling of transferrin and the transferrin receptor in a human hepatoma cell line. Effect of lysosomotropic agents. J Biol Chem (1983) 4.55

An electrophoretic karyotype of Neurospora crassa. Mol Cell Biol (1988) 4.46

Mutation of the receptor tyrosine kinase gene Mertk in the retinal dystrophic RCS rat. Hum Mol Genet (2000) 4.42

Ubiquitin-mediated proteolysis: biological regulation via destruction. Bioessays (2000) 4.38

Diagnostic risk adjustment for Medicaid: the disability payment system. Health Care Financ Rev (1996) 4.34

A controlled study of adenoviral-vector-mediated gene transfer in the nasal epithelium of patients with cystic fibrosis. N Engl J Med (1995) 4.30

Intracellular receptor sorting during endocytosis: comparative immunoelectron microscopy of multiple receptors in rat liver. Cell (1984) 3.96

Pre-mRNA splicing and mRNA export linked by direct interactions between UAP56 and Aly. Nature (2001) 3.94

Mutations in MERTK, the human orthologue of the RCS rat retinal dystrophy gene, cause retinitis pigmentosa. Nat Genet (2000) 3.72

Translocation (8;21) in oligoblastic leukemia: is this a true myelodysplastic syndrome? Leuk Res (1994) 3.66

Another blockbuster glaucoma drug? Ophthalmology (1993) 3.46

Clinical features associated with mutations in the chromosome 1 open-angle glaucoma gene (GLC1A) N Engl J Med (1998) 3.18

Genetic linkage of familial open angle glaucoma to chromosome 1q21-q31. Nat Genet (1993) 3.12

A primitive enantiornithine bird and the origin of feathers. Science (2000) 2.96

DNA damage and cell cycle regulation of ribonucleotide reductase. Bioessays (1993) 2.81

Degradation of nuclear oncoproteins by the ubiquitin system in vitro. Proc Natl Acad Sci U S A (1991) 2.77

The Collaborative Initial Glaucoma Treatment Study: study design, methods, and baseline characteristics of enrolled patients. Ophthalmology (1999) 2.73

Fractional contribution of calcium to the cation current through glutamate receptor channels. Neuron (1993) 2.69

Risk of developing colorectal cancer and benign colorectal neoplasm in patients with chronic constipation. Aliment Pharmacol Ther (2014) 2.67

Fractional calcium currents through recombinant GluR channels of the NMDA, AMPA and kainate receptor subtypes. J Physiol (1995) 2.67

The human Y chromosome: overlapping DNA clones spanning the euchromatic region. Science (1992) 2.66

Population genetic implications from sequence variation in four Y chromosome genes. Proc Natl Acad Sci U S A (2000) 2.62

Membranes of sorting organelles display lateral heterogeneity in receptor distribution. J Cell Biol (1987) 2.59

The prevalence of nocturia and its effect on health-related quality of life and sleep in a community sample in the USA. BJU Int (2003) 2.59

The ubiquitin conjugation system is required for ligand-induced endocytosis and degradation of the growth hormone receptor. EMBO J (1996) 2.58

Construction of human Y-chromosomal haplotypes using a new polymorphic A to G transition. Hum Mol Genet (1994) 2.47

Genetics and phenotypes of RPE65 mutations in inherited retinal degeneration. Invest Ophthalmol Vis Sci (2000) 2.46

Late endosomes derive from early endosomes by maturation. Cell (1991) 2.41

Inducible T cell antigen 4-1BB. Analysis of expression and function. J Immunol (1993) 2.40

The ubiquitin-proteasome pathway: the complexity and myriad functions of proteins death. Proc Natl Acad Sci U S A (1998) 2.40

Differential effect of steady versus oscillating flow on bone cells. J Biomech (1998) 2.38

Cystic fibrosis gene mutations and pancreatitis risk: relation to epithelial ion transport and trypsin inhibitor gene mutations. Gastroenterology (2001) 2.36

Kinetics of internalization and recycling of the asialoglycoprotein receptor in a hepatoma cell line. J Biol Chem (1982) 2.35

Safety and biological efficacy of a lipid-CFTR complex for gene transfer in the nasal epithelium of adult patients with cystic fibrosis. Mol Ther (2000) 2.34

MAP kinase-related FUS3 from S. cerevisiae is activated by STE7 in vitro. Nature (1993) 2.33

Oxygen-bridged dinuclear ruthenium amine complex specifically inhibits Ca2+ uptake into mitochondria in vitro and in situ in single cardiac myocytes. J Biol Chem (1998) 2.32

Functional association of U2 snRNP with the ATP-independent spliceosomal complex E. Mol Cell (2000) 2.27

The smallest known non-avian theropod dinosaur. Nature (2000) 2.26

Cloning human fetal gamma globin and mouse alpha-type globin DNA: characterization and partial sequencing. Science (1978) 2.25

A novel mutation in the cystic fibrosis gene in patients with pulmonary disease but normal sweat chloride concentrations. N Engl J Med (1994) 2.25

Variability of expert observers in evaluating the optic disc. Trans Am Ophthalmol Soc (1976) 2.25

Lessons from loricrin-deficient mice: compensatory mechanisms maintaining skin barrier function in the absence of a major cornified envelope protein. J Cell Biol (2000) 2.22

Inhibition of entry of Plasmodium falciparum and P. vivax sporozoites into cultured cells; an in vitro assay of protective antibodies. J Immunol (1984) 2.18

Function of the Escherichia coli msbB gene, a multicopy suppressor of htrB knockouts, in the acylation of lipid A. Acylation by MsbB follows laurate incorporation by HtrB. J Biol Chem (1997) 2.17

PEGylated PLGA nanoparticles as protein carriers: synthesis, preparation and biodistribution in rats. J Control Release (2001) 2.15

Ubiquitin-dependent degradation of certain protein substrates in vitro requires the molecular chaperone Hsc70. J Biol Chem (1997) 2.14

Bleb-related endophthalmitis after trabeculectomy with mitomycin C. Ophthalmology (1996) 2.12

The asialoglycoprotein receptor internalizes and recycles independently of the transferrin and insulin receptors. Cell (1983) 2.10

Mechanism of block and identification of the verapamil binding domain to HERG potassium channels. Circ Res (1999) 2.10

Unusual sequences in the murine immunoglobulin mu-delta heavy-chain region. Nature (1984) 2.08

Ribonucleotide reductase: regulation, regulation, regulation. Trends Biochem Sci (1992) 2.07

Alterations in the protein composition of maturing phagosomes. J Clin Invest (1992) 2.07

Enzyme replacement therapy for adenosine deaminase deficiency and severe combined immunodeficiency. N Engl J Med (1976) 2.04

Characterization of the asialoglycoprotein receptor in a continuous hepatoma line. J Biol Chem (1981) 2.04

Recycling of the asialoglycoprotein receptor and the effect of lysosomotropic amines in hepatoma cells. J Cell Biol (1984) 2.04

39 kDa receptor-associated protein is an ER resident protein and molecular chaperone for LDL receptor-related protein. EMBO J (1995) 1.98

Odontogenic tumors. A demographic study of 759 cases in a Chinese population. Oral Surg Oral Med Oral Pathol Oral Radiol Endod (1998) 1.93

The impact on health-related quality of life of stress, urge and mixed urinary incontinence. BJU Int (2003) 1.93

Visual field validity and the search for glaucoma's Holy Grail. Ophthalmology (1994) 1.90

Basal and human papillomavirus E6 oncoprotein-induced degradation of Myc proteins by the ubiquitin pathway. Proc Natl Acad Sci U S A (1998) 1.88

Low density lipoprotein receptor-related protein/alpha 2-macroglobulin receptor is an hepatic receptor for tissue-type plasminogen activator. Proc Natl Acad Sci U S A (1992) 1.88

Occupational exposure to bisphenol-A (BPA) and the risk of self-reported male sexual dysfunction. Hum Reprod (2009) 1.87

A precision measurement of the mass of the top quark. Nature (2004) 1.87

Anterior chamber depth following filtration surgery. Ophthalmic Surg (1989) 1.85

Making risk adjustment work for everyone. Inquiry (1995) 1.85

Effects of neonicotinoids and fipronil on non-target invertebrates. Environ Sci Pollut Res Int (2014) 1.85

The ubiquitin-mediated proteolytic pathway: mechanisms of recognition of the proteolytic substrate and involvement in the degradation of native cellular proteins. FASEB J (1994) 1.84

Pulmonary epithelial sodium-channel dysfunction and excess airway liquid in pseudohypoaldosteronism. N Engl J Med (1999) 1.81

The Community Medical Alliance: an integrated system of care in Greater Boston for people with severe disability and AIDS. Manag Care Q (1996) 1.81

Clinical comparison of the Oculab Tono-Pen to the Goldmann applanation tonometer. Ophthalmology (1987) 1.80

Multipoint linkage map of the human pseudoautosomal region, based on single-sperm typing: do double crossovers occur during male meiosis? Am J Hum Genet (1994) 1.78

Rapid disease progression correlates with instability of mutant SOD1 in familial ALS. Neurology (2005) 1.78

Translocation of C. elegans CED-4 to nuclear membranes during programmed cell death. Science (2000) 1.77

The subtypes of localized bronchioloalveolar carcinoma: CT-pathologic correlation in 18 cases. AJR Am J Roentgenol (1999) 1.76

Incentives for healthcare screening. Ophthalmology (1993) 1.75

Relations between the intracellular pathways of the receptors for transferrin, asialoglycoprotein, and mannose 6-phosphate in human hepatoma cells. J Cell Biol (1989) 1.74

Breast cancer metastatic potential correlates with a breakdown in homospecific and heterospecific gap junctional intercellular communication. Cancer Res (2001) 1.72

Protein synthesis elongation factor EF-1 alpha is essential for ubiquitin-dependent degradation of certain N alpha-acetylated proteins and may be substituted for by the bacterial elongation factor EF-Tu. Proc Natl Acad Sci U S A (1994) 1.72

Sequence of human asialoglycoprotein receptor cDNA. An internal signal sequence for membrane insertion. J Biol Chem (1985) 1.71

The relative value of quality care. Ophthalmology (1991) 1.71

Trabecular surgery. Arch Ophthalmol (1974) 1.71

Modulators of cyclic AMP metabolism induce syncytiotrophoblast formation in vitro. Exp Cell Res (1990) 1.70

Covalent regulation of ULVWF string formation and elongation on endothelial cells under flow conditions. J Thromb Haemost (2008) 1.68

Intraoperative mitomycin versus postoperative 5-fluorouracil in high-risk glaucoma filtering surgery. Ophthalmology (1992) 1.68

Gene expression signatures and biomarkers of noninvasive and invasive breast cancer cells: comprehensive profiles by representational difference analysis, microarrays and proteomics. Oncogene (2006) 1.68

Alpha2-macroglobulin complexes with and mediates the endocytosis of beta-amyloid peptide via cell surface low-density lipoprotein receptor-related protein. J Neurochem (1997) 1.67

Ubiquitin-mediated processing of NF-kappa B transcriptional activator precursor p105. Reconstitution of a cell-free system and identification of the ubiquitin-carrier protein, E2, and a novel ubiquitin-protein ligase, E3, involved in conjugation. J Biol Chem (1995) 1.67

How are substrates recognized by the ubiquitin-mediated proteolytic system? Trends Biochem Sci (1989) 1.66

Biosynthesis of the human asialoglycoprotein receptor. J Biol Chem (1983) 1.65

J genes for heavy chain immunoglobulins of mouse. Science (1980) 1.65

A clinical comparison of visual field testing with a new automated perimeter, the Humphrey Field Analyzer, and the Goldmann perimeter. Ophthalmology (1985) 1.64

Immunoelectron microscopic localization of acidic intracellular compartments in hepatoma cells. EMBO J (1985) 1.64