Published in J Invest Dermatol on February 01, 1980
Targeted disruption of decorin leads to abnormal collagen fibril morphology and skin fragility. J Cell Biol (1997) 6.42
Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen. Am J Hum Genet (1992) 1.25
A mutation in the pro alpha 2(I) gene (COL1A2) for type I procollagen in Ehlers-Danlos syndrome type VII: evidence suggesting that skipping of exon 6 in RNA splicing may be a common cause of the phenotype. Am J Hum Genet (1991) 1.11
Learning how mutations in type I collagen genes cause connective tissue disease. Int J Exp Pathol (1993) 0.93
The clinical features of Ehlers-Danlos syndrome type VIIB resulting from a base substitution at the splice acceptor site of intron 5 of the COL1A2 gene. J Med Genet (1994) 0.89
Expanding the clinical and mutational spectrum of the Ehlers-Danlos syndrome, dermatosparaxis type. Genet Med (2016) 0.75
Clinical and genetic features of Ehlers-Danlos syndrome type IV, the vascular type. N Engl J Med (2000) 7.61
Correlation of procollagen mRNA levels in normal and transformed chick embryo fibroblasts with different rates of procollagen synthesis. Biochemistry (1978) 2.85
Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry. J Am Acad Dermatol (1991) 2.79
Defect in conversion of procollagen to collagen in a form of Ehlers-Danlos syndrome. Science (1973) 2.74
Subtle structural alterations in the chains of type I procollagen produce osteogenesis imperfecta type II. Nature (1985) 2.46
Type I osteogenesis imperfecta: a nonfunctional allele for pro alpha 1 (I) chains of type I procollagen. Proc Natl Acad Sci U S A (1982) 2.45
Altered triple helical structure of type I procollagen in lethal perinatal osteogenesis imperfecta. J Biol Chem (1985) 2.45
Calcium regulation of cell-cell contact and differentiation of epidermal cells in culture. An ultrastructural study. Exp Cell Res (1983) 2.43
Production of procollagen by human fibroblasts in culture. Proc Natl Acad Sci U S A (1972) 2.30
Reduced secretion of structurally abnormal type I procollagen in a form of osteogenesis imperfecta. Proc Natl Acad Sci U S A (1981) 2.28
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
Assembly of stratum corneum basic protein and keratin filaments in macrofibrils. Nature (1978) 1.96
Rates of and risk factors for trichomoniasis among pregnant inmates in New York City. Sex Transm Dis (1998) 1.92
Preparation of type III procollagen and collagen from rat skin. Biochemistry (1974) 1.92
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
The bicuspid aortic valve: an integrated phenotypic classification of leaflet morphology and aortic root shape. Heart (2008) 1.81
Marfan syndrome: abnormal alpha 2 chain in type I collagen. Proc Natl Acad Sci U S A (1981) 1.78
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
Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfecta. J Clin Invest (1983) 1.71
Marfan syndrome: defective synthesis, secretion, and extracellular matrix formation of fibrillin by cultured dermal fibroblasts. J Clin Invest (1992) 1.68
Expression of epidermal keratins and filaggrin during human fetal skin development. J Cell Biol (1985) 1.68
Identification of the collagenous proteins synthesized by cultured cells from human skin. Biochemistry (1975) 1.67
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
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
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
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
Osteogenesis imperfecta type I: molecular heterogeneity for COL1A1 null alleles of type I collagen. Am J Hum Genet (1994) 1.51
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
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
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
A translocation interrupts the COL5A1 gene in a patient with Ehlers-Danlos syndrome and hypomelanosis of Ito. Nat Genet (1996) 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
Comparison of endovascular and conventional vascular prostheses in an experimental infection model. J Vasc Surg (1996) 1.45
Procollagen. Adv Enzymol Relat Areas Mol Biol (1975) 1.37
Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome. Lab Invest (1979) 1.36
Osteogenesis imperfecta type I is commonly due to a COL1A1 null allele of type I collagen. Am J Hum Genet (1992) 1.35
Heterozygosity for a large deletion in the alpha 2(I) collagen gene has a dramatic effect on type I collagen secretion and produces perinatal lethal osteogenesis imperfecta. J Biol Chem (1988) 1.34
Clinical and ultrastructural heterogeneity of type IV Ehlers-Danlos syndrome. Hum Genet (1979) 1.31
Regional differences in the thickness (cell layers) of the human stratum corneum: an ultrastructural analysis. J Invest Dermatol (1974) 1.31
Studies of collagen synthesis and structure in the differentiation of child abuse from osteogenesis imperfecta. J Pediatr (1996) 1.29
Aortic root complications in Marfan's syndrome: identification of a lower risk group. Heart (1996) 1.27
Genetics of tuberous sclerosis. Lancet (1987) 1.27
Human dermatosparaxis: a form of Ehlers-Danlos syndrome that results from failure to remove the amino-terminal propeptide of type I procollagen. Am J Hum Genet (1992) 1.25
Redefinition of exon 7 in the COL1A1 gene of type I collagen by an intron 8 splice-donor-site mutation in a form of osteogenesis imperfecta: influence of intron splice order on outcome of splice-site mutation. Am J Hum Genet (1999) 1.24
Molecular defects of type III procollagen in Ehlers-Danlos syndrome type IV. Hum Genet (1989) 1.24
Heterogeneity in harlequin ichthyosis, an inborn error of epidermal keratinization: variable morphology and structural protein expression and a defect in lamellar granules. J Invest Dermatol (1990) 1.23
Immunolocalization of epidermal growth factor receptors in normal developing human skin. J Invest Dermatol (1990) 1.23
The fine structure of developing human epidermis: light, scanning, and transmission electron microscopy of the periderm. J Invest Dermatol (1975) 1.23
Arginine for glycine substitution in the triple-helical domain of the products of one alpha 2(I) collagen allele (COL1A2) produces the osteogenesis imperfecta type IV phenotype. J Biol Chem (1988) 1.22
Genetic disorders of collagen metabolism. Adv Hum Genet (1982) 1.22
Topical ocular antibiotics induce bacterial resistance at extraocular sites. Br J Ophthalmol (2005) 1.22
Structural abnormalities in the dermal collagen and elastic matrix from the skin of patients with inherited connective tissue disorders. J Invest Dermatol (1982) 1.22
Peptide mapping of collagen chains using CNBr cleavage of proteins within polyacrylamide gels. Coll Relat Res (1981) 1.21
Palmar-plantar keratoderma. A clinical, ultrastructural, and biochemical study. J Am Acad Dermatol (1988) 1.20
Pregnancy complications in type IV Ehlers-Danlos Syndrome. Lancet (1983) 1.16
Interchain disulfide bonds in procollagen are located in a large nontriple-helical COOH-terminal domain. Proc Natl Acad Sci U S A (1975) 1.14
Cerebrovascular complications in Ehlers-Danlos syndrome type IV. Ann Neurol (1995) 1.14
Ichthyosis vulgaris: identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules. J Invest Dermatol (1985) 1.14
Ehlers-Danlos syndrome type IV: cosegregation of the phenotype to a COL3A1 allele of type III procollagen. Hum Genet (1986) 1.14
Properties of carcinogen altered mouse epidermal cells resistant to calcium-induced terminal differentiation. Carcinogenesis (1983) 1.13
Defective folding and stable association with protein disulfide isomerase/prolyl hydroxylase of type I procollagen with a deletion in the pro alpha 2(I) chain that preserves the Gly-X-Y repeat pattern. J Biol Chem (1992) 1.13
Null alleles of the COL5A1 gene of type V collagen are a cause of the classical forms of Ehlers-Danlos syndrome (types I and II). Am J Hum Genet (2000) 1.11
Collagen types I, III, and V in human embryonic and fetal skin. Am J Anat (1986) 1.11
A single amino acid substitution (D1441Y) in the carboxyl-terminal propeptide of the proalpha1(I) chain of type I collagen results in a lethal variant of osteogenesis imperfecta with features of dense bone diseases. J Med Genet (2002) 1.11
Splicing defects in the COL3A1 gene: marked preference for 5' (donor) spice-site mutations in patients with exon-skipping mutations and Ehlers-Danlos syndrome type IV. Am J Hum Genet (1997) 1.10
Abnormal lamellar granules in harlequin ichthyosis. J Invest Dermatol (1992) 1.10
Mutations in the COL3A1 gene result in the Ehlers-Danlos syndrome type IV and alterations in the size and distribution of the major collagen fibrils of the dermis. J Invest Dermatol (1997) 1.10
A collagen and elastic network in the wing of the bat. J Anat (1978) 1.09
Variable expression in a dominantly inherited skeletal dysplasia with similarities to brachydactyly E and spondyloepiphyseal-spondyloperipheral dysplasia. Clin Genet (1979) 1.07
Periderm cells form cornified cell envelope in their regression process during human epidermal development. J Invest Dermatol (1999) 1.06
Ontogeny of Langerhans cells in human embryonic and fetal skin: expression of HLA-DR and OKT-6 determinants. J Invest Dermatol (1986) 1.05
Prolyl hydroxylase half reaction: peptidyl prolyl-independent decarboxylation of alpha-ketoglutarate. Proc Natl Acad Sci U S A (1978) 1.05
Profilaggrin, a high-molecular-weight precursor of filaggrin in human epidermis and cultured keratinocytes. J Invest Dermatol (1985) 1.03
Infantile systemic hyalinosis in a black infant. Pediatr Dermatol (1994) 1.03
Substitution of cysteine for glycine within the carboxyl-terminal telopeptide of the alpha 1 chain of type I collagen produces mild osteogenesis imperfecta. J Biol Chem (1988) 1.01
Prenatal diagnosis of lethal perinatal osteogenesis imperfecta (OI type II). J Pediatr (1982) 1.01