Published in Hum Genet on May 01, 1989
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Targetting of the gene encoding fibrillin-1 recapitulates the vascular aspect of Marfan syndrome. Nat Genet (1997) 2.98
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Internal deletion in a collagen gene in a perinatal lethal form of osteogenesis imperfecta. Nature (1983) 2.73
Identification of the molecular defect in a family with spondyloepiphyseal dysplasia. Science (1989) 2.67
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Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta. J Biol Chem (1985) 2.45
Homozygosity mapping of the gene for alkaptonuria to chromosome 3q2. Nat Genet (1993) 2.44
Isolation and partial characterization of the entire human pro alpha 1(II) collagen gene. Nucleic Acids Res (1985) 2.42
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Structure of a cDNA for the pro alpha 2 chain of human type I procollagen. Comparison with chick cDNA for pro alpha 2(I) identifies structurally conserved features of the protein and the gene. Biochemistry (1983) 2.41
Mutations in GLUT2, the gene for the liver-type glucose transporter, in patients with Fanconi-Bickel syndrome. Nat Genet (1997) 2.40
Regulation of limb patterning by extracellular microfibrils. J Cell Biol (2001) 2.37
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A molecular approach to the stratification of cardiovascular risk in families with Marfan's syndrome. N Engl J Med (1994) 2.29
Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta. Proc Natl Acad Sci U S A (1981) 2.28
Phenotypic alteration of vascular smooth muscle cells precedes elastolysis in a mouse model of Marfan syndrome. Circ Res (2001) 2.22
Analysis of the 3' end of the human pro-alpha 2(I) collagen gene. Utilization of multiple polyadenylation sites in cultured fibroblasts. J Biol Chem (1983) 2.18
Genomic organization of the sequence coding for fibrillin, the defective gene product in Marfan syndrome. Hum Mol Genet (1993) 2.16
Linkage of COL1A2 collagen gene to cystic fibrosis, and its clinical implications. Lancet (1985) 2.14
Developmental expression of fibrillin genes suggests heterogeneity of extracellular microfibrils. J Cell Biol (1995) 2.11
Isolation of cDNA and genomic clones encoding human pro-alpha 1 (III) collagen. Partial characterization of the 3' end region of the gene. J Biol Chem (1985) 2.09
Glycine to serine substitution in the triple helical domain of pro-alpha 1 (II) collagen results in a lethal perinatal form of short-limbed dwarfism. J Biol Chem (1989) 2.09
Decreased globin messenger RNA in thalassemia detected by molecular hybridization. Proc Natl Acad Sci U S A (1973) 2.07
Structure and expression of fibrillin-2, a novel microfibrillar component preferentially located in elastic matrices. J Cell Biol (1994) 2.03
Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. Am J Hum Genet (1995) 2.01
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Human Ehlers-Danlos syndrome type VII C and bovine dermatosparaxis are caused by mutations in the procollagen I N-proteinase gene. Am J Hum Genet (1999) 1.98
Assignment of the human pro alpha 2(I) collagen structural gene (COLIA2) to chromosome 7 by molecular hybridization. Am J Hum Genet (1982) 1.98
Relative numbers of human globin genes assayed with purified alpha and beta complementary human DNA. Proc Natl Acad Sci U S A (1975) 1.97
Human pro alpha 1(I) collagen gene structure reveals evolutionary conservation of a pattern of introns and exons. Nature (1984) 1.97
Abnormal or absent beta mRNA in betao Ferrara and gene deletion in delta beta thalassaemia. Nature (1976) 1.96
Genetic linkage of the Marfan syndrome, ectopia lentis, and congenital contractural arachnodactyly to the fibrillin genes on chromosomes 15 and 5. The International Marfan Syndrome Collaborative Study. N Engl J Med (1992) 1.95
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Preparation of type III procollagen and collagen from rat skin. Biochemistry (1974) 1.92
Osteoporosis-pseudoglioma syndrome, a disorder affecting skeletal strength and vision, is assigned to chromosome region 11q12-13. Am J Hum Genet (1996) 1.89
Ehlers-Danlos syndrome type IV: a multi-exon deletion in one of the two COL3A1 alleles affecting structure, stability, and processing of type III procollagen. J Biol Chem (1988) 1.88
Spontaneous multivessel cervical artery dissection in a patient with a substitution of alanine for glycine (G13A) in the alpha 1 (I) chain of type I collagen. Neurology (1996) 1.85
Cysteine in the triple-helical domain of one allelic product of the alpha 1(I) gene of type I collagen produces a lethal form of osteogenesis imperfecta. J Biol Chem (1984) 1.84
Targeted mutation in the col5a2 gene reveals a regulatory role for type V collagen during matrix assembly. Nat Genet (1995) 1.83
Identification of a mutation that causes exon skipping during collagen pre-mRNA splicing in an Ehlers-Danlos syndrome variant. J Biol Chem (1988) 1.83
The bicuspid aortic valve: an integrated phenotypic classification of leaflet morphology and aortic root shape. Heart (2008) 1.81
Human type I procollagen genes are located on different chromosomes. Proc Natl Acad Sci U S A (1982) 1.78
Marfan syndrome: abnormal alpha 2 chain in type I collagen. Proc Natl Acad Sci U S A (1981) 1.78
Fine structural analysis of the human pro-alpha 1 (I) collagen gene. Promoter structure, AluI repeats, and polymorphic transcripts. J Biol Chem (1985) 1.72
BiP binds type I procollagen pro alpha chains with mutations in the carboxyl-terminal propeptide synthesized by cells from patients with osteogenesis imperfecta. J Biol Chem (1993) 1.72
Complete nucleotide sequence of the region encompassing the first twenty-five exons of the human pro alpha 1(I) collagen gene (COL1A1) Gene (1988) 1.72
Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfecta. J Clin Invest (1983) 1.71
Evidence for a structural mutation of procollagen type I in a patient with the Ehlers-Danlos syndrome type VII. J Biol Chem (1980) 1.69
Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts. J Clin Invest (1992) 1.68
Identification of the collagenous proteins synthesized by cultured cells from human skin. Biochemistry (1975) 1.67
Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA. J Biol Chem (1985) 1.67
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Lethal osteogenesis imperfecta resulting from a single nucleotide change in one human pro alpha 1(I) collagen allele. Proc Natl Acad Sci U S A (1986) 1.65
Delineation of the Marfan phenotype associated with mutations in exons 23-32 of the FBN1 gene. Am J Med Genet (1996) 1.65
Molecular heterogeneity in the mild autosomal dominant forms of osteogenesis imperfecta. Am J Hum Genet (1984) 1.62
X-linked cutis laxa: defective cross-link formation in collagen due to decreased lysyl oxidase activity. N Engl J Med (1980) 1.62
Frameshift mutation near the 3' end of the COL1A1 gene of type I collagen predicts an elongated Pro alpha 1(I) chain and results in osteogenesis imperfecta type I. J Clin Invest (1990) 1.61
Disorders of human hemoglobin. Science (1980) 1.60
Osteogenesis imperfecta: update and perspective. Am J Med Genet (1984) 1.60
Haploinsufficiency for one COL3A1 allele of type III procollagen results in a phenotype similar to the vascular form of Ehlers-Danlos syndrome, Ehlers-Danlos syndrome type IV. Am J Hum Genet (2001) 1.58
Fibrillin-2 (FBN2) mutations result in the Marfan-like disorder, congenital contractural arachnodactyly. Nat Genet (1995) 1.57
Transforming growth factor-beta stimulates alpha 2(I) collagen gene expression through a cis-acting element that contains an Sp1-binding site. J Biol Chem (1994) 1.57
Genetic counselling on brittle grounds: recurring osteogenesis imperfecta due to parental mosaicism for a dominant mutation. Eur J Pediatr (1995) 1.57
Distinct biochemical phenotypes predict clinical severity in nonlethal variants of osteogenesis imperfecta. Am J Hum Genet (1990) 1.56
Recurrence of lethal osteogenesis imperfecta due to parental mosaicism for a dominant mutation in a human type I collagen gene (COL1A1). Am J Hum Genet (1990) 1.54
Intron-mediated recombination may cause a deletion in an alpha 1 type I collagen chain in a lethal form of osteogenesis imperfecta. Proc Natl Acad Sci U S A (1985) 1.53
Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations. J Med Genet (2009) 1.53
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Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. Am J Hum Genet (1994) 1.51
DNA sequences in the first intron of the human pro-alpha 1(I) collagen gene enhance transcription. J Biol Chem (1987) 1.51
Nonketotic hyperglycinemia: clinical and electrophysiologic effects of dextromethorphan, an antagonist of the NMDA receptor. Neurology (1993) 1.51
Developmental expression of the mouse gene coding for the Krüppel-like transcription factor KLF5. Dev Dyn (2000) 1.50
Mutations in the carboxyl-terminal propeptide of the pro alpha 1(I) chain of type I collagen result in defective chain association and produce lethal osteogenesis imperfecta. J Biol Chem (1993) 1.49
A base substitution at a splice site in the COL3A1 gene causes exon skipping and generates abnormal type III procollagen in a patient with Ehlers-Danlos syndrome type IV. J Biol Chem (1990) 1.47
Variable expression of osteogenesis imperfecta in a nuclear family is explained by somatic mosaicism for a lethal point mutation in the alpha 1(I) gene (COL1A1) of type I collagen in a parent. Am J Hum Genet (1990) 1.47
A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito. Nat Genet (1996) 1.46
Altered secretion of type III procollagen in a form of type IV Ehlers-Danlos syndrome. Biochemical studies in cultured fibroblasts. Lab Invest (1981) 1.46
Complement as a mediator of inflammation in acute gouty arthritis. I. Studies on the reaction between human serum complement and sodium urate crystals. J Lab Clin Med (1973) 1.45
Osteogenesis imperfecta. The position of substitution for glycine by cysteine in the triple helical domain of the pro alpha 1(I) chains of type I collagen determines the clinical phenotype. J Clin Invest (1989) 1.45