Published in Am J Med Genet on February 01, 1993
The unfolded protein response and its relevance to connective tissue diseases. Cell Tissue Res (2009) 1.20
COL9A3: A third locus for multiple epiphyseal dysplasia. Am J Hum Genet (1999) 1.17
Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19. Am J Hum Genet (1994) 1.04
Genetic heterogeneity in multiple epiphyseal dysplasia. Am J Hum Genet (1995) 0.92
Genetic aspects of familial osteoarthritis. Ann Rheum Dis (1994) 0.78
Osteoarthritis cartilage histopathology: grading and staging. Osteoarthritis Cartilage (2005) 6.77
A polymorphic DNA marker linked to cystic fibrosis is located on chromosome 7. Nature (1985) 5.07
Identification of fetal DNA and cells in skin lesions from women with systemic sclerosis. N Engl J Med (1998) 4.08
Identification of more than 500 RFLPs by screening random genomic clones. Am J Hum Genet (1988) 3.01
Second-line platinum therapy in patients with ovarian cancer previously treated with cisplatin. J Clin Oncol (1991) 2.94
A disease severity scale for systemic sclerosis: development and testing. J Rheumatol (1999) 2.85
Treatment of systemic sclerosis with extracorporeal photochemotherapy. Results of a multicenter trial. Arch Dermatol (1992) 2.33
Stop codon in the procollagen II gene (COL2A1) in a family with the Stickler syndrome (arthro-ophthalmopathy). Proc Natl Acad Sci U S A (1991) 2.24
Transforming growth factor beta (TGF beta) causes a persistent increase in steady-state amounts of type I and type III collagen and fibronectin mRNAs in normal human dermal fibroblasts. Biochem J (1987) 2.23
NF-kappaB as a potential therapeutic target in osteoarthritis and rheumatoid arthritis. Osteoarthritis Cartilage (2006) 2.07
PCR bias in ecological analysis: a case study for quantitative Taq nuclease assays in analyses of microbial communities. Appl Environ Microbiol (2000) 1.96
Genetic linkage of a polymorphism in the type II procollagen gene (COL2A1) to primary osteoarthritis associated with mild chondrodysplasia. N Engl J Med (1990) 1.93
A susceptibility locus for Parkinson's disease maps to chromosome 2p13. Nat Genet (1998) 1.84
A transport form of collagen from embryonic tendon: electron microscopic demonstration of an NH 2 -terminal extension and evidence suggesting the presence of cystine in the molecule (chick embryo-tropocollagen-gel filtration). Proc Natl Acad Sci U S A (1972) 1.79
Dose-related neurobehavioral effects of chronic cocaine use. J Neuropsychiatry Clin Neurosci (1999) 1.77
Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. Nat Genet (1997) 1.75
Accuracy of RPE from graded exercise to establish exercise training intensity. Med Sci Sports Exerc (1992) 1.72
Selective inhibition of human diploid fibroblast collagen synthesis by interferons. J Clin Invest (1984) 1.70
Epidemiology of alcohol-related emergency department visits. Acad Emerg Med (1998) 1.70
Endoluminal ultrasonography of the distal esophagus in systemic sclerosis. Gastroenterology (1993) 1.60
A tandem duplication within the fibrillin 1 gene is associated with the mouse tight skin mutation. Genome Res (1996) 1.57
Inhibition of collagen synthesis by mononuclear cell supernates. J Exp Med (1979) 1.55
Stimulation of normal human fibroblast collagen production and processing by transforming growth factor-beta. Biochem Biophys Res Commun (1986) 1.51
The cause and pathogenesis of the eosinophilia-myalgia syndrome. Ann Intern Med (1992) 1.46
Effect of joint motion on experimental calcium pyrophosphate dihydrate crystal induced arthritis. J Rheumatol (1990) 1.46
Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene. Am J Hum Genet (1989) 1.44
Autoantibodies to nuclear lamin C in the eosinophilia-myalgia syndrome associated with L-tryptophan ingestion. Arthritis Rheum (1992) 1.41
Co-ordinate increase in the expression of type I and type III collagen genes in progressive systemic sclerosis fibroblasts. Biochem J (1986) 1.37
Identification of collagen alpha1(I) trimer in embryonic chick tendons and calvaria. Biochem Biophys Res Commun (1977) 1.36
Diverse mutations in the gene for cartilage oligomeric matrix protein in the pseudoachondroplasia-multiple epiphyseal dysplasia disease spectrum. Am J Hum Genet (1998) 1.33
Structure of cDNA clones coding for human type II procollagen. The alpha 1(II) chain is more similar to the alpha 1(I) chain than two other alpha chains of fibrillar collagens. Biochem J (1989) 1.31
Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene. J Clin Invest (1992) 1.29
Transcriptional control of human diploid fibroblast collagen synthesis by gamma-interferon. Biochem Biophys Res Commun (1984) 1.27
Mononuclear cellular infiltrates in clinically involved skin from patients with systemic sclerosis of recent onset predominantly consist of monocytes/macrophages. Pathobiology (1995) 1.25
Autosomal recessive non-syndromic deafness locus (DFNB8) maps on chromosome 21q22 in a large consanguineous kindred from Pakistan. Hum Mol Genet (1996) 1.25
Experimental silicosis: morphologic and biochemical abnormalities produced by intratracheal instillation of quartz into guinea pig lungs. Am J Pathol (1980) 1.25
Systemic sclerosis after augmentation mammoplasty with silicone implants. Ann Intern Med (1989) 1.23
Cell-mediated immunity in interstitial nephritis. III. T lymphocyte-mediated fibroblast proliferation and collagen synthesis: an immune mechanism for renal fibrogenesis. J Immunol (1980) 1.22
Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa. Am J Hum Genet (1991) 1.22
Determination of an epitope of the diffuse systemic sclerosis marker antigen DNA topoisomerase I: sequence similarity with retroviral p30gag protein suggests a possible cause for autoimmunity in systemic sclerosis. Proc Natl Acad Sci U S A (1989) 1.21
Differential regulation of cyclooxygenases 1 and 2 by interleukin-1 beta, tumor necrosis factor-alpha, and transforming growth factor-beta 1 in human lung fibroblasts. Exp Cell Res (1998) 1.20
The regulation of lung fibroblast proliferation by alveolar macrophages in experimental silicosis. Am Rev Respir Dis (1984) 1.19
Inhibition of excessive scleroderma fibroblast collagen production by recombinant gamma-interferon. Association with a coordinate decrease in types I and III procollagen messenger RNA levels. Arthritis Rheum (1986) 1.19
Glucosamine sulfate modulates the levels of aggrecan and matrix metalloproteinase-3 synthesized by cultured human osteoarthritis articular chondrocytes. Osteoarthritis Cartilage (2003) 1.19
Biosynthesis of a low molecular weight collagen by rabbit growth plate cartilage organ cultures. Coll Relat Res (1983) 1.18
Use of highly polymorphic DNA probes for genotypic analysis following bone marrow transplantation. Blood (1986) 1.18
Impact of weight loss on the metabolic syndrome. Int J Obes (Lond) (2007) 1.17
Concordance of chlamydia trachomatis infections within sexual partnerships. Sex Transm Infect (2007) 1.16
Missense rhodopsin mutation in a family with recessive RP. Nat Genet (1994) 1.16
Modulation of TGF-beta signaling by proinflammatory cytokines in articular chondrocytes. Osteoarthritis Cartilage (2007) 1.16
Phenotype of peripheral blood lymphocytes in patients with progressive systemic sclerosis: activated T lymphocytes and the effect of D-penicillamine therapy. Clin Exp Immunol (1987) 1.15
Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils. J Clin Invest (1992) 1.14
Attenuation of methamphetamine-induced neurotoxicity in copper/zinc superoxide dismutase transgenic mice. J Neurochem (1994) 1.14
Spondyloepiphyseal dysplasia and precocious osteoarthritis in a family with an Arg75-->Cys mutation in the procollagen type II gene (COL2A1). Hum Genet (1993) 1.13
Homozygosity mapping of achromatopsia to chromosome 2 using DNA pooling. Hum Mol Genet (1997) 1.11
The Tight skin mouse: demonstration of mutant fibrillin-1 production and assembly into abnormal microfibrils. J Cell Biol (1998) 1.10
Transforming growth factor-beta stimulation of lung fibroblast prostaglandin E2 production. J Biol Chem (1989) 1.10
Formation of nodular structures resembling mature articular cartilage in long-term primary cultures of human fetal epiphyseal chondrocytes on a hydrogel substrate. Arthritis Rheum (1994) 1.10
Intracellular collagen and protocollagen from embryonic tendon cells. J Biol Chem (1973) 1.09
Highly polymorphic RFLP probes as diagnostic tools. Cold Spring Harb Symp Quant Biol (1986) 1.09
Evaluation of transforming growth factor beta and type I procollagen gene expression in fibrotic skin diseases by in situ hybridization. J Invest Dermatol (1990) 1.09
Activation of expression of genes coding for extracellular matrix proteins in Tat-producing glioblastoma cells. Proc Natl Acad Sci U S A (1992) 1.08
Holocarboxylase synthetase deficiency: a biotin-responsive organic acidemia. J Pediatr (1980) 1.07
Localization of the Krabbe disease gene (GALC) on chromosome 14 by multipoint linkage analysis. Am J Hum Genet (1993) 1.07
A second mutation in the type II procollagen gene (COL2AI) causing stickler syndrome (arthro-ophthalmopathy) is also a premature termination codon. Am J Hum Genet (1993) 1.06
Production of cartilage oligomeric matrix protein (COMP) by cultured human dermal and synovial fibroblasts. Osteoarthritis Cartilage (1998) 1.06
Cardiovascular, metabolic, and ventilatory responses of women to equivalent cycle ergometer and treadmill exercise. Med Sci Sports Exerc (1980) 1.06
Dual specificity of su+ 7 tRNA. Evidence for translational discrimination. J Mol Biol (1980) 1.05
Oral iloprost treatment in patients with Raynaud's phenomenon secondary to systemic sclerosis: a multicenter, placebo-controlled, double-blind study. Arthritis Rheum (1998) 1.05
Regulation of transforming growth factor-beta 1 gene expression by glucocorticoids in normal human T lymphocytes. J Clin Invest (1991) 1.04
Genetic linkage mapping of multiple epiphyseal dysplasia to the pericentromeric region of chromosome 19. Am J Hum Genet (1994) 1.04
Increased expression of type VI collagen genes in systemic sclerosis. Arthritis Rheum (1990) 1.03
Elevated expression of type VII collagen in the skin of patients with systemic sclerosis. Regulation by transforming growth factor-beta. J Clin Invest (1994) 1.03
Topoisomerase I identified by scleroderma 70 antisera: enrichment of topoisomerase I at the centromere in mouse mitotic cells before anaphase. Proc Natl Acad Sci U S A (1986) 1.03
Stickler syndrome. A mutation in the nonhelical 3' end of type II procollagen gene. Arch Ophthalmol (1995) 1.02
Elevated expression of beta 1 and beta 2 integrins, intercellular adhesion molecule 1, and endothelial leukocyte adhesion molecule 1 in the skin of patients with systemic sclerosis of recent onset. Arthritis Rheum (1992) 1.02
Mutations in the cartilage oligomeric matrix protein (COMP) gene in pseudoachondroplasia and multiple epiphyseal dysplasia. Ann N Y Acad Sci (1996) 1.02
Biosynthetic expression of type X collagen in embryonic chick sternum cartilage during development. J Biol Chem (1986) 1.01
Discrimination between aminoacyl groups on su+ 7 tRNA by elongation factor Tu. J Mol Biol (1980) 1.01
Mapping of epidermolysis bullosa simplex mutation to chromosome 12. Am J Hum Genet (1991) 1.01
The effect of voluntary ventilation on acid-base responses to a Moo Duk Tkow form. Res Q Exerc Sport (1989) 1.01
Identification of two new collagen alpha-chains in extracts of lathyritic chick embryo tendons. Biochem Biophys Res Commun (1978) 1.00
Cardiovascular and ventilatory responses during formalized T'ai Chi Chuan exercise. Res Q Exerc Sport (1989) 0.98
Modulation of human alpha1(I) procollagen gene activity by interaction with Sp1 and Sp3 transcription factors in vitro. Gene (1998) 0.98
Thermal and circulatory responses to repeated bouts of prolonged running. Med Sci Sports (1979) 0.98
A pilot study of intermittent intravenous cyclophosphamide for the treatment of systemic sclerosis associated lung disease. J Rheumatol (1998) 0.98
Scleroderma-like alterations in collagen metabolism occurring in the TSK (tight skin) mouse. Arthritis Rheum (1984) 0.98
Exaggerated radiation-induced fibrosis in patients with systemic sclerosis. JAMA (1991) 0.98
Interferon-gamma reverses the stimulation of collagen but not fibronectin gene expression by transforming growth factor-beta in normal human fibroblasts. Eur J Clin Invest (1990) 0.98
Krabbe disease locus mapped to chromosome 14 by genetic linkage. Am J Hum Genet (1990) 0.97
Isovaleric acidemia: use of glycine therapy in neonates. N Engl J Med (1978) 0.97
PGE2 causes a coordinate decrease in the steady state levels of fibronectin and types I and III procollagen mRNAs in normal human dermal fibroblasts. Biochem Biophys Res Commun (1987) 0.97
Increased sensitivity of scleroderma fibroblasts in culture to stimulation of protein and collagen synthesis by serum. Biochem Biophys Res Commun (1977) 0.97
Simple method to determine sincerity of effort during a maximal isometric test of grip strength. Am J Phys Med (1983) 0.97
Recombinant gamma, alpha, and beta interferon regulation of human lung fibroblast proliferation. Am Rev Respir Dis (1987) 0.96