Published in J Biol Chem on August 05, 1990
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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
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Fifteen novel FBN1 mutations causing Marfan syndrome detected by heteroduplex analysis of genomic amplicons. Am J Hum Genet (1995) 2.01
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
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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
Abnormal or absent beta mRNA in betao Ferrara and gene deletion in delta beta thalassaemia. Nature (1976) 1.96
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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
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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
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Multiexon deletion in an osteogenesis imperfecta variant with increased type III collagen mRNA. J Biol Chem (1985) 1.67
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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
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Expression of the UNC-5 guidance receptor in the touch neurons of C. elegans steers their axons dorsally. Nature (1993) 1.56
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Synergistic cooperation between Sp1 and Smad3/Smad4 mediates transforming growth factor beta1 stimulation of alpha 2(I)-collagen (COL1A2) transcription. J Biol Chem (2000) 1.52
DNA sequences in the first intron of the human pro-alpha 1(I) collagen gene enhance transcription. J Biol Chem (1987) 1.51
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Requirement for cAMP-PKA pathway activation by M phase-promoting factor in the transition from mitosis to interphase. Science (1996) 1.47
Localized vulvar pemphigoid in a child misdiagnosed as sexual abuse. Arch Dermatol (1992) 1.47
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
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Cell-type specific recognition of RGD- and non-RGD-containing cell binding domains in fibrillin-1. J Biol Chem (1996) 1.42
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Temperature-dependent expression of a collagen splicing defect in the fibroblasts of a patient with Ehlers-Danlos syndrome type VII. J Biol Chem (1989) 1.40
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G to T transversion at position +5 of a splice donor site causes skipping of the preceding exon in the type III procollagen transcripts of a patient with Ehlers-Danlos syndrome type IV. J Biol Chem (1991) 1.27
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Maternal blood lead level during pregnancy in South Central Los Angeles. Arch Environ Health (1999) 1.26
Aortic wall mechanics and composition in a transgenic mouse model of Marfan syndrome. Arterioscler Thromb Vasc Biol (2001) 1.25
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