Published in J Lab Clin Med on October 01, 1985
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Elastin and collagen fibre microstructure of the human aorta in ageing and disease: a review. J R Soc Interface (2013) 1.17
Unilateral microfibrillar abnormalities in a case of asymmetric Marfan syndrome. Am J Hum Genet (1990) 1.08
Alteration of elastic architecture in the lathyritic rat aorta implies the pathogenesis of aortic dissecting aneurysm. Am J Pathol (1992) 0.87
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Novel function for beta 1 integrins in keratinocyte cell-cell interactions. J Cell Biol (1990) 2.39
Inhalation anthrax in a home craftsman. Hum Pathol (1978) 2.28
Targeted disruption of the pemphigus vulgaris antigen (desmoglein 3) gene in mice causes loss of keratinocyte cell adhesion with a phenotype similar to pemphigus vulgaris. J Cell Biol (1997) 2.23
The mechanism of respiratory failure in paraneoplastic pemphigus. N Engl J Med (1999) 2.21
Pseudoxanthoma elasticum: mutations in the MRP6 gene encoding a transmembrane ATP-binding cassette (ABC) transporter. Proc Natl Acad Sci U S A (2000) 1.97
Revised classification system for inherited epidermolysis bullosa: Report of the Second International Consensus Meeting on diagnosis and classification of epidermolysis bullosa. J Am Acad Dermatol (2000) 1.97
Comparison of nerve cell and nerve cell plus Schwann cell cultures, with particular emphasis on basal lamina and collagen formation. J Cell Biol (1980) 1.96
Integrin beta 4 mutations associated with junctional epidermolysis bullosa with pyloric atresia. Nat Genet (1995) 1.90
Plectin deficiency results in muscular dystrophy with epidermolysis bullosa. Nat Genet (1996) 1.78
Intrinsic aging vs. photoaging: a comparative histopathological, immunohistochemical, and ultrastructural study of skin. Exp Dermatol (2002) 1.75
Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy. Nat Genet (1997) 1.75
Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization. Genes Dev (1996) 1.75
Scleroderma: increased biosynthesis of triple-helical type I and type III procollagens associated with unaltered expression of collagenase by skin fibroblasts in culture. J Clin Invest (1979) 1.73
Connective tissue nevi of the skin. Clinical, genetic, and histopathologic classification of hamartomas of the collagen, elastin, and proteoglycan type. J Am Acad Dermatol (1980) 1.71
Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa. Nat Genet (1995) 1.71
Mutation analysis and molecular genetics of epidermolysis bullosa. Matrix Biol (1999) 1.70
Altered laminin 5 expression due to mutations in the gene encoding the beta 3 chain (LAMB3) in generalized atrophic benign epidermolysis bullosa. J Invest Dermatol (1995) 1.69
Human elastin gene: new evidence for localization to the long arm of chromosome 7. Am J Hum Genet (1991) 1.69
Human type VII collagen: cDNA cloning and chromosomal mapping of the gene. Proc Natl Acad Sci U S A (1991) 1.66
Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa. Nat Genet (1994) 1.65
Herlitz's junctional epidermolysis bullosa is linked to mutations in the gene (LAMC2) for the gamma 2 subunit of nicein/kalinin (LAMININ-5). Nat Genet (1994) 1.63
Targeted inactivation of the type VII collagen gene (Col7a1) in mice results in severe blistering phenotype: a model for recessive dystrophic epidermolysis bullosa. J Cell Sci (1999) 1.61
A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. Genomics (1994) 1.59
Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion. Cell (1997) 1.57
Increased collagen cross-linkages in experimental diabetes: reversal by beta-aminopropionitrile and D-penicillamine. Diabetes (1980) 1.56
Human bullous pemphigoid antigen (BPAG1). Amino acid sequences deduced from cloned cDNAs predict biologically important peptide segments and protein domains. J Biol Chem (1991) 1.55
trans-dominant inhibition of connexin-43 by mutant connexin-26: implications for dominant connexin disorders affecting epidermal differentiation. J Cell Sci (2001) 1.54
A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa. Nat Genet (1993) 1.53
Localization of integrin receptors for fibronectin, collagen, and laminin in human skin. Variable expression in basal and squamous cell carcinomas. J Clin Invest (1989) 1.52
An AP-1 binding sequence is essential for regulation of the human alpha2(I) collagen (COL1A2) promoter activity by transforming growth factor-beta. J Biol Chem (1996) 1.52
Cloning of human type VII collagen. Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms. J Biol Chem (1994) 1.51
Smad3/AP-1 interactions control transcriptional responses to TGF-beta in a promoter-specific manner. Oncogene (2001) 1.51
A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome. Nat Genet (1996) 1.47
The cause and pathogenesis of the eosinophilia-myalgia syndrome. Ann Intern Med (1992) 1.46
Genetic linkage analysis of hereditary arthro-ophthalmopathy (Stickler syndrome) and the type II procollagen gene. Am J Hum Genet (1989) 1.44
Protection against pemphigus foliaceus by desmoglein 3 in neonates. N Engl J Med (2000) 1.43
Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene. Genomics (1994) 1.43
Further evaluation of the significance of urinary hydroxyproline determinations in the diagnosis of thyroid disorders. Clin Chim Acta (1968) 1.41
Characterization of the complete human elastin gene. Delineation of unusual features in the 5'-flanking region. J Biol Chem (1989) 1.40
A 500-kb region on chromosome 16p13.1 contains the pseudoxanthoma elasticum locus: high-resolution mapping and genomic structure. J Mol Med (Berl) (2000) 1.39
Cefotaxime and desacetyl cefotaxime kinetics in renal impairment. Clin Pharmacol Ther (1985) 1.34
Connective tissue biochemistry of the aging dermis. Age-related alterations in collagen and elastin. Dermatol Clin (1986) 1.34
Formation of interchain disulfide bonds and helical structure during biosynthesis of procollagen by embryonic tendon cells. Biochemistry (1974) 1.33
Protocollagen proline hydroxylase activity in the skin of normal human subjects and of patients with scleroderma. Scand J Clin Lab Invest (1969) 1.30
The members of the plakin family of proteins recognized by paraneoplastic pemphigus antibodies include periplakin. J Invest Dermatol (1998) 1.30
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants. J Med Genet (2006) 1.29
Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene. J Clin Invest (1992) 1.29
A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2. Hum Mol Genet (1998) 1.28
Multiple granular cell tumor: a case report and review of the literature. Head Neck (1997) 1.28
Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa. Exp Dermatol (1996) 1.28
Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2. Br J Dermatol (1998) 1.28
Interleukin-10 modulates type I collagen and matrix metalloprotease gene expression in cultured human skin fibroblasts. J Clin Invest (1994) 1.28
Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa. Genomics (1994) 1.28
Cutaneous features of pseudoxanthoma elasticum in a patient with generalized arterial calcification of infancy due to a homozygous missense mutation in the ENPP1 gene. Br J Dermatol (2012) 1.27
Activation of collagen gene expression in keloids: co-localization of type I and VI collagen and transforming growth factor-beta 1 mRNA. J Invest Dermatol (1991) 1.25
Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations. Exp Dermatol (2005) 1.25
Classification of pseudoxanthoma elasticum: report of a consensus conference. J Am Acad Dermatol (1994) 1.25
Reduction of collagen production in keloid fibroblast cultures by ethyl-3,4-dihydroxybenzoate. Inhibition of prolyl hydroxylase activity as a mechanism of action. J Biol Chem (1987) 1.25
A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa. Nat Genet (1993) 1.25
Frequency and distribution of occult micrometastases in lymph nodes of patients with non-small-cell lung carcinoma. J Natl Cancer Inst (1993) 1.23
Systemic absorption of oral vancomycin in patients with renal insufficiency and antibiotic-associated colitis. Am J Kidney Dis (1987) 1.23
Lung cancer classification: the relationship of disease extent and cell type to survival in a clinical trials population. J Surg Oncol (1987) 1.22
Comparative pharmacokinetics and pharmacodynamics of epoetin alfa and epoetin beta. Clin Pharmacol Ther (1991) 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
Collagen polymorphism: isolation and partial characterization of alpha 1(I)-trimer molecules in normal human skin. Arch Biochem Biophys (1979) 1.21
Darier disease--novel mutations in ATP2A2 and genotype-phenotype correlation. Exp Dermatol (2001) 1.20
Preparation and properties of salt-soluble elastin. J Biol Chem (1972) 1.20
SMAD3/4-dependent transcriptional activation of the human type VII collagen gene (COL7A1) promoter by transforming growth factor beta. Proc Natl Acad Sci U S A (1998) 1.20
Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition. Am J Pathol (1996) 1.19
Cellular differentiation and expression of matrix genes in type 1 neurofibromatosis. Lab Invest (1988) 1.19
Identification of ABCC6 pseudogenes on human chromosome 16p: implications for mutation detection in pseudoxanthoma elasticum. Hum Genet (2001) 1.19
Biochemical composition of the connective tissue in keloids and analysis of collagen metabolism in keloid fibroblast cultures. J Invest Dermatol (1985) 1.17
Homozygous deletion mutations in the plectin gene (PLEC1) in patients with epidermolysis bullosa simplex associated with late-onset muscular dystrophy. Hum Mol Genet (1996) 1.16
Epitope mapping of type VII collagen. Identification of discrete peptide sequences recognized by sera from patients with acquired epidermolysis bullosa. J Clin Invest (1993) 1.16
The spectrum of pathogenic mutations in SPINK5 in 19 families with Netherton syndrome: implications for mutation detection and first case of prenatal diagnosis. J Invest Dermatol (2001) 1.16
Altered steady-state ratio of type I/III procollagen mRNAs correlates with selectively increased type I procollagen biosynthesis in cultured keloid fibroblasts. Proc Natl Acad Sci U S A (1985) 1.16
Collagen biosynthesis in bleomycin-induced pulmonary fibrosis in hamsters. J Lab Clin Med (1980) 1.15
Smad-dependent transcriptional activation of human type VII collagen gene (COL7A1) promoter by transforming growth factor-beta. J Biol Chem (1998) 1.15
Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation. Am J Hum Genet (1997) 1.15
Collagen biosynthesis by human skin fibroblasts. I. Optimization of the culture conditions for synthesis of type I and type III procollagens. Biochim Biophys Acta (1980) 1.15
Conformational stability of type I collagen triple helix: evidence for temporary and local relaxation of the protein conformation using a proteolytic probe. Arch Biochem Biophys (1983) 1.14
Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils. J Clin Invest (1992) 1.14
Compound heterozygosity for a recurrent 16.5-kb Alu-mediated deletion mutation and single-base-pair substitutions in the ABCC6 gene results in pseudoxanthoma elasticum. Am J Hum Genet (2001) 1.14
Occult metastases in the axillary lymph nodes of patients with breast cancer node negative by clinical and histologic examination and conventional histology. Dis Markers (1992) 1.14
Structural and functional characterization of the human perlecan gene promoter. Transcriptional activation by transforming growth factor-beta via a nuclear factor 1-binding element. J Biol Chem (1997) 1.13
Nuclear factor-kappa B mediates TNF-alpha inhibitory effect on alpha 2(I) collagen (COL1A2) gene transcription in human dermal fibroblasts. J Immunol (1999) 1.13
Biosynthesis of cartilage procollagen. Influence of chain association and hydroxylation of prolyl residues on the folding of the polypeptides into the triple-helical conformation. Biochemistry (1974) 1.13
Cell-specific induction of distinct oncogenes of the Jun family is responsible for differential regulation of collagenase gene expression by transforming growth factor-beta in fibroblasts and keratinocytes. J Biol Chem (1996) 1.13
Development of diffuse fasciitis with eosinophilia during L-tryptophan treatment: demonstration of elevated type I collagen gene expression in affected tissues. A clinicopathologic study of four patients. Ann Intern Med (1990) 1.13
Workshop on pseudoxanthoma elasticum: molecular biology and pathology of the elastic fibers. Jefferson Medical College, Philadelphia, Pennsylvania, June 10, 1992. J Invest Dermatol (1992) 1.12
Cutaneous lesions of Letterer-Siwe disease. Electron microscopic study. Cancer (1967) 1.12
Differential expression of the versican and decorin genes in photoaged and sun-protected skin. Comparison by immunohistochemical and northern analyses. Lab Invest (1995) 1.12
Transcriptional regulation of decorin gene expression. Induction by quiescence and repression by tumor necrosis factor-alpha. J Biol Chem (1995) 1.11
Novel ITGB4 mutations in lethal and nonlethal variants of epidermolysis bullosa with pyloric atresia: missense versus nonsense. Am J Hum Genet (1998) 1.11
Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa. Am J Hum Genet (1994) 1.10
Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene. Exp Eye Res (2000) 1.10