Published in Genomics on November 20, 1995
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The mechanism of respiratory failure in paraneoplastic pemphigus. N Engl J Med (1999) 2.21
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Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa. Nat Genet (1994) 1.65
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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
Different cis-acting elements are involved in the regulation of TRP1 and TRP2 promoter activities by cyclic AMP: pivotal role of M boxes (GTCATGTGCT) and of microphthalmia. Mol Cell Biol (1998) 1.62
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Dominant dystrophic epidermolysis bullosa associated with pyloric stenosis and congenital absence of skin. Arch Dermatol (2001) 1.60
A homozygous nonsense mutation in the beta 3 chain gene of laminin 5 (LAMB3) in Herlitz junctional epidermolysis bullosa. Genomics (1994) 1.59
Giant oral aphthous ulcers induced by nicorandil. Br J Dermatol (1998) 1.58
Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion. Cell (1997) 1.57
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Increased collagen cross-linkages in experimental diabetes: reversal by beta-aminopropionitrile and D-penicillamine. Diabetes (1980) 1.56
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A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa. Nat Genet (1993) 1.53
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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
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Complex cytogenetic rearrangement of chromosome 8q in a case of Ambras syndrome. Am J Med Genet (2001) 1.48
A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome. Nat Genet (1996) 1.47
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Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene. Genomics (1994) 1.43
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EMLA cream as a topical anesthetic for the repeated mechanical debridement of venous leg ulcers: a double-blind, placebo-controlled study. J Am Acad Dermatol (1999) 1.41
Inhibition of the mitogen-activated protein kinase pathway triggers B16 melanoma cell differentiation. J Biol Chem (1998) 1.40
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
The dermal-epidermal junction. Curr Opin Cell Biol (1997) 1.39
DNA metabarcoding multiplexing and validation of data accuracy for diet assessment: application to omnivorous diet. Mol Ecol Resour (2013) 1.39
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The role of the hairless (hr) gene in the regulation of hair follicle catagen transformation. Am J Pathol (1999) 1.38
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The role of MMAC1 mutations in early-onset breast cancer: causative in association with Cowden syndrome and excluded in BRCA1-negative cases. Am J Hum Genet (1997) 1.37
Regulation of the microphthalmia-associated transcription factor gene by the Waardenburg syndrome type 4 gene, SOX10. J Biol Chem (2000) 1.36
Transposable B2 SINE elements can provide mobile RNA polymerase II promoters. Nat Genet (2001) 1.35
A homozygous mutation in the integrin alpha6 gene in junctional epidermolysis bullosa with pyloric atresia. J Clin Invest (1997) 1.35
Monoclonal antibody GB3, a new probe for the study of human basement membranes and hemidesmosomes. Exp Cell Res (1987) 1.34
Connective tissue biochemistry of the aging dermis. Age-related alterations in collagen and elastin. Dermatol Clin (1986) 1.34
Molecular and functional aspects of the hairless (hr) gene in laboratory rodents and humans. Exp Dermatol (1998) 1.33