Published in Nat Genet on May 01, 2000
Biological functions of the small leucine-rich proteoglycans: from genetics to signal transduction. J Biol Chem (2008) 2.53
The molecular basis of corneal transparency. Exp Eye Res (2010) 2.08
Proteoglycan form and function: A comprehensive nomenclature of proteoglycans. Matrix Biol (2015) 1.91
Extracellular matrix molecules: potential targets in pharmacotherapy. Pharmacol Rev (2009) 1.90
Roles of lumican and keratocan on corneal transparency. Glycoconj J (2003) 1.60
Corneal collagen fibril structure in three dimensions: Structural insights into fibril assembly, mechanical properties, and tissue organization. Proc Natl Acad Sci U S A (2001) 1.43
The Finnish Disease Heritage III: the individual diseases. Hum Genet (2003) 1.36
The regulatory roles of small leucine-rich proteoglycans in extracellular matrix assembly. FEBS J (2013) 1.33
Stem cell therapy restores transparency to defective murine corneas. Stem Cells (2009) 1.32
Chromosome abnormalities and the genetics of congenital corneal opacification. Mol Vis (2011) 1.04
Toward a better understanding of human eye disease insights from the zebrafish, Danio rerio. Prog Mol Biol Transl Sci (2011) 1.00
Fibromodulin regulates collagen fibrillogenesis during peripheral corneal development. Dev Dyn (2010) 0.98
Increased C-telopeptide cross-linking of tendon type I collagen in fibromodulin-deficient mice. J Biol Chem (2014) 0.96
Expression analysis of human pterygium shows a predominance of conjunctival and limbal markers and genes associated with cell migration. Mol Vis (2009) 0.95
Ultrastructural changes in the retinopathy, globe enlarged (rge) chick cornea. J Struct Biol (2009) 0.94
Interclass small leucine-rich repeat proteoglycan interactions regulate collagen fibrillogenesis and corneal stromal assembly. Matrix Biol (2014) 0.88
Pathophysiological mechanisms of autosomal dominant congenital stromal corneal dystrophy: C-terminal-truncated decorin results in abnormal matrix assembly and altered expression of small leucine-rich proteoglycans. Am J Pathol (2011) 0.87
Differential expression of the keratan sulphate proteoglycan, keratocan, during chick corneal embryogenesis. Histochem Cell Biol (2007) 0.87
Structural and biochemical aspects of keratan sulphate in the cornea. Cell Mol Life Sci (2010) 0.85
Regulation of corneal stroma extracellular matrix assembly. Exp Eye Res (2015) 0.84
Cell surface glycoconjugate abnormalities and corneal epithelial wound healing in the pax6+/- mouse model of aniridia-related keratopathy. Invest Ophthalmol Vis Sci (2006) 0.82
Posterior amorphous corneal dystrophy is associated with a deletion of small leucine-rich proteoglycans on chromosome 12. PLoS One (2014) 0.80
Pellucid marginal degeneration coexistent with cornea plana in one member of a family exhibiting a novel KERA mutation. Br J Ophthalmol (2005) 0.80
[Gene expression in keratoconus. Initial results using DNA microarrays]. Ophthalmologe (2003) 0.79
Linkage of posterior amorphous corneal dystrophy to chromosome 12q21.33 and exclusion of coding region mutations in KERA, LUM, DCN, and EPYC. Invest Ophthalmol Vis Sci (2010) 0.79
Modifications in stromal extracellular matrix of aged corneas can be induced by ultraviolet A irradiation. Aging Cell (2015) 0.76
Next-generation sequencing analysis of gene regulation in the rat model of retinopathy of prematurity. Doc Ophthalmol (2013) 0.76
Small leucine-rich repeat proteoglycans in corneal inflammation and wound healing. Exp Eye Res (2016) 0.75
Case report: a novel KERA mutation associated with cornea plana and its predicted effect on protein function. BMC Med Genet (2015) 0.75
Development of myotendinous-like junctions that anchor cardiac valves requires fibromodulin and lumican. Dev Dyn (2016) 0.75
The zebrafish eye-a paradigm for investigating human ocular genetics. Eye (Lond) (2016) 0.75
Cornea plana associated with open-angle glaucoma: a case report. Int Ophthalmol (2011) 0.75
Asporin-deficient mice have tougher skin and altered skin glycosaminoglycan content and structure. PLoS One (2017) 0.75
Linkage disequilibrium mapping in isolated founder populations: diastrophic dysplasia in Finland. Nat Genet (1992) 15.62
A physical map of the human genome. Nature (2001) 12.39
A serine/threonine kinase gene defective in Peutz-Jeghers syndrome. Nature (1998) 10.35
Incidence of hereditary nonpolyposis colorectal cancer and the feasibility of molecular screening for the disease. N Engl J Med (1998) 8.47
A mutation in a case of early onset narcolepsy and a generalized absence of hypocretin peptides in human narcoleptic brains. Nat Med (2000) 7.05
Cancer risk in mutation carriers of DNA-mismatch-repair genes. Int J Cancer (1999) 6.73
Hypermutability and mismatch repair deficiency in RER+ tumor cells. Cell (1993) 6.61
Sensitive and quantitative universal Pyrosequencing methylation analysis of CpG sites. Biotechniques (2003) 5.49
An interspersed repeated sequence specific for human subtelomeric regions. EMBO J (1990) 5.30
The diastrophic dysplasia gene encodes a novel sulfate transporter: positional cloning by fine-structure linkage disequilibrium mapping. Cell (1994) 5.21
Mutations in the activin receptor-like kinase 1 gene in hereditary haemorrhagic telangiectasia type 2. Nat Genet (1996) 5.15
Mutations in human TBX5 [corrected] cause limb and cardiac malformation in Holt-Oram syndrome. Nat Genet (1997) 5.11
Analysis of mismatch repair genes in hereditary non-polyposis colorectal cancer patients. Nat Med (1996) 4.87
TBX1 is responsible for cardiovascular defects in velo-cardio-facial/DiGeorge syndrome. Cell (2001) 4.60
The sex-determining region of the human Y chromosome encodes a finger protein. Cell (1987) 4.43
Localization of the human alpha-globin structural gene to chromosome 16 in somatic cell hybrids by molecular hybridization assay. Cell (1977) 4.34
Localization of a susceptibility locus for Peutz-Jeghers syndrome to 19p using comparative genomic hybridization and targeted linkage analysis. Nat Genet (1997) 4.27
K-ras is an essential gene in the mouse with partial functional overlap with N-ras. Genes Dev (1997) 4.24
Genetic susceptibility to non-polyposis colorectal cancer. J Med Genet (1999) 4.16
Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy. Nature (1986) 4.13
Mismatch repair gene defects in sporadic colorectal cancers with microsatellite instability. Nat Genet (1995) 4.01
Population-based molecular detection of hereditary nonpolyposis colorectal cancer. J Clin Oncol (2000) 3.98
Tumor doubling times in metastatic malignant melanoma of the uvea: tumor progression before and after treatment. Ophthalmology (2000) 3.94
X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet (1996) 3.90
Somatic inactivation of Pkd2 results in polycystic kidney disease. Cell (1998) 3.84
Conversion of diploidy to haploidy. Nature (2000) 3.28
Mutations in ATP2A2, encoding a Ca2+ pump, cause Darier disease. Nat Genet (1999) 3.25
Meiotic pachytene arrest in MLH1-deficient mice. Cell (1996) 3.18
Early childhood infectious diseases and the development of asthma up to school age: a birth cohort study. BMJ (2001) 3.09
A deletion in chromosome 22 can cause DiGeorge syndrome. Hum Genet (1981) 3.04
A deletion map of the human Y chromosome based on DNA hybridization. Am J Hum Genet (1986) 3.03
Expression profiling reveals fundamental biological differences in acute myeloid leukemia with isolated trisomy 8 and normal cytogenetics. Proc Natl Acad Sci U S A (2001) 3.01
Mutation in the follicle-stimulating hormone receptor gene causes hereditary hypergonadotropic ovarian failure. Cell (1995) 2.89
Mutations in the RNA component of RNase MRP cause a pleiotropic human disease, cartilage-hair hypoplasia. Cell (2001) 2.86
Functional characterization of transforming growth factor beta signaling in Smad2- and Smad3-deficient fibroblasts. J Biol Chem (2001) 2.85
Molecular definition of 22q11 deletions in 151 velo-cardio-facial syndrome patients. Am J Hum Genet (1997) 2.85
Wheezing in childhood: incidence, longitudinal patterns and factors predicting persistence. Eur Respir J (2008) 2.83
Making and reading microarrays. Nat Genet (1999) 2.81
Mutations in the gene encoding cystatin B in progressive myoclonus epilepsy (EPM1) Science (1996) 2.73
Loss-of-function mutations in PPAR gamma associated with human colon cancer. Mol Cell (1999) 2.71
Converging evidence for a pseudoautosomal cytokine receptor gene locus in schizophrenia. Mol Psychiatry (2007) 2.70
Mutations of the Down-regulated in adenoma (DRA) gene cause congenital chloride diarrhoea. Nat Genet (1996) 2.70
Mammalian MutS homologue 5 is required for chromosome pairing in meiosis. Nat Genet (1999) 2.62
Reduced isotype switching in splenic B cells from mice deficient in mismatch repair enzymes. J Exp Med (1999) 2.61
Human fatalities from cyanobacteria: chemical and biological evidence for cyanotoxins. Environ Health Perspect (2001) 2.60
Sequence homology requirements for intermolecular recombination in mammalian cells. Proc Natl Acad Sci U S A (1986) 2.50
MutS homolog 4 localization to meiotic chromosomes is required for chromosome pairing during meiosis in male and female mice. Genes Dev (2000) 2.49
Mutation in the mismatch repair gene Msh6 causes cancer susceptibility. Cell (1997) 2.46
Localization of the EPM1 gene for progressive myoclonus epilepsy on chromosome 21: linkage disequilibrium allows high resolution mapping. Hum Mol Genet (1993) 2.46
Pericentric inversions of human chromosomes 9 and 10. Am J Hum Genet (1974) 2.40
hMSH2 mutations in hereditary nonpolyposis colorectal cancer kindreds. Cancer Res (1994) 2.39
Gene expression in papillary thyroid carcinoma reveals highly consistent profiles. Proc Natl Acad Sci U S A (2001) 2.38
Rearrangement of ALL1 (MLL) in acute myeloid leukemia with normal cytogenetics. Cancer Res (1998) 2.33
Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy. Proc Natl Acad Sci U S A (1999) 2.27
Cardiac defects and renal failure in mice with targeted mutations in Pkd2. Nat Genet (2000) 2.24
Effect of double-strand breaks on homologous recombination in mammalian cells and extracts. Mol Cell Biol (1985) 2.22
The murine N-ras gene is not essential for growth and development. Proc Natl Acad Sci U S A (1995) 2.18
Evaluation of the CD14 C-159 T polymorphism in the German Multicenter Allergy Study cohort. Clin Exp Allergy (2003) 2.15
Pseudoautosomal DNA sequences in the pairing region of the human sex chromosomes. Nature (1985) 2.14
Trabectedin in the treatment of metastatic soft tissue sarcoma: cost-effectiveness, cost-utility and value of information. Ann Oncol (2010) 2.13
Second cancers among long-term survivors of Hodgkin's disease diagnosed in childhood and adolescence. J Clin Oncol (2000) 2.09
Loss of the wild type MLH1 gene is a feature of hereditary nonpolyposis colorectal cancer. Nat Genet (1994) 2.08
Genetic and epigenetic modification of MLH1 accounts for a major share of microsatellite-unstable colorectal cancers. Am J Pathol (2000) 2.03
Mutations predisposing to hereditary nonpolyposis colorectal cancer. Adv Cancer Res (1997) 1.98
Mutations in CUBN, encoding the intrinsic factor-vitamin B12 receptor, cubilin, cause hereditary megaloblastic anaemia 1. Nat Genet (1999) 1.96
Apc1638T: a mouse model delineating critical domains of the adenomatous polyposis coli protein involved in tumorigenesis and development. Genes Dev (1999) 1.95
Cubilin dysfunction causes abnormal metabolism of the steroid hormone 25(OH) vitamin D(3). Proc Natl Acad Sci U S A (2001) 1.94
Accurate modification of a chromosomal plasmid by homologous recombination in human cells. Proc Natl Acad Sci U S A (1987) 1.93
Age-related hypermethylation of the 5' region of MLH1 in normal colonic mucosa is associated with microsatellite-unstable colorectal cancer development. Cancer Res (2001) 1.93
GFAP is necessary for the integrity of CNS white matter architecture and long-term maintenance of myelination. Neuron (1996) 1.91
POLG mutations in neurodegenerative disorders with ataxia but no muscle involvement. Neurology (2004) 1.89
MSH2 and MLH1 mutations in sporadic replication error-positive colorectal carcinoma as assessed by two-dimensional DNA electrophoresis. Genes Chromosomes Cancer (1997) 1.83
Global classification and coding of hypersensitivity diseases - An EAACI - WAO survey, strategic paper and review. Allergy (2014) 1.83
The etiology of maleness in XX men. Hum Genet (1981) 1.82
Genetic control of serum IgE levels and asthma: linkage and linkage disequilibrium studies in an isolated population. Hum Mol Genet (1997) 1.82
Effect of dystrophin gene deletions on mRNA levels and processing in Duchenne and Becker muscular dystrophies. Cell (1990) 1.80
International consensus on (ICON) pediatric asthma. Allergy (2012) 1.79
Human type I procollagen genes are located on different chromosomes. Proc Natl Acad Sci U S A (1982) 1.78
Semiautomated assessment of loss of heterozygosity and replication error in tumors. Cancer Res (1996) 1.77
The distribution of linkage disequilibrium over anonymous genome regions. Hum Mol Genet (1995) 1.76
Mutations in a novel gene with transmembrane domains underlie Usher syndrome type 3. Am J Hum Genet (2001) 1.76
Indoor allergen exposure is a risk factor for sensitization during the first three years of life. J Allergy Clin Immunol (1997) 1.74
Genome-wide association study of body mass index in 23 000 individuals with and without asthma. Clin Exp Allergy (2013) 1.74
Gender verification in the Olympics. JAMA (2000) 1.72
Mutations in the protein kinase A R1alpha regulatory subunit cause familial cardiac myxomas and Carney complex. J Clin Invest (2000) 1.72
Bipolar spectrum disorders in patients diagnosed with velo-cardio-facial syndrome: does a hemizygous deletion of chromosome 22q11 result in bipolar affective disorder? Am J Psychiatry (1996) 1.71
Linkage, physical mapping, and DNA sequence analysis of pseudoautosomal loci on the human X and Y chromosomes. Genomics (1987) 1.70
Identification of a gene at 11q23 encoding a guanine nucleotide exchange factor: evidence for its fusion with MLL in acute myeloid leukemia. Proc Natl Acad Sci U S A (2000) 1.69
The DNA mismatch repair genes Msh3 and Msh6 cooperate in intestinal tumor suppression. Cancer Res (2000) 1.68
Genetic selection and folate intake during pregnancy. Lancet (1998) 1.68
DNA mismatch repair gene mutations in 55 kindreds with verified or putative hereditary non-polyposis colorectal cancer. Hum Mol Genet (1996) 1.64
The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8. Nat Genet (1999) 1.61
Premutation allele pool in myotonic dystrophy type 2. Neurology (2008) 1.61
Assembly, annotation, and integration of UNIGENE clusters into the human genome draft. Genome Res (2001) 1.60
The pattern of atopic sensitization is associated with the development of asthma in childhood. J Allergy Clin Immunol (2001) 1.60
Chromosome damage after intra-articular injections of radioactive yttrium. Effect of immobilization on the biological dose. Ann Rheum Dis (1972) 1.60
Genotype-phenotype correlation in murine Apc mutation: differences in enterocyte migration and response to sulindac. Cancer Res (1999) 1.60
Aberrant expression of an amplified c-myb oncogene in two cell lines from a colon carcinoma. Proc Natl Acad Sci U S A (1984) 1.59
The intrinsic factor-vitamin B12 receptor, cubilin, is a high-affinity apolipoprotein A-I receptor facilitating endocytosis of high-density lipoprotein. Nat Med (1999) 1.59