Published in J Invest Dermatol on January 01, 1990
Loss of proteolytically processed filaggrin caused by epidermal deletion of Matriptase/MT-SP1. J Cell Biol (2003) 2.08
Tissue-specific knockout of the mouse Pig-a gene reveals important roles for GPI-anchored proteins in skin development. Proc Natl Acad Sci U S A (1997) 1.97
Mutations in ABCA12 underlie the severe congenital skin disease harlequin ichthyosis. Am J Hum Genet (2005) 1.97
Mutations in lipid transporter ABCA12 in harlequin ichthyosis and functional recovery by corrective gene transfer. J Clin Invest (2005) 1.92
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ABCA12 maintains the epidermal lipid permeability barrier by facilitating formation of ceramide linoleic esters. J Biol Chem (2008) 1.21
Lipids, proteins and corneocyte adhesion. Arch Dermatol Res (1991) 0.94
Premature terminal differentiation and a reduction in specific proteases associated with loss of ABCA12 in Harlequin ichthyosis. Am J Pathol (2009) 0.92
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The roles of ABCA12 in keratinocyte differentiation and lipid barrier formation in the epidermis. Dermatoendocrinol (2011) 0.88
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Cellular basis of secondary infections and impaired desquamation in certain inherited ichthyoses. JAMA Dermatol (2015) 0.86
Harlequin fetus: a case report. Surg Radiol Anat (1999) 0.84
Self-improvement of keratinocyte differentiation defects during skin maturation in ABCA12-deficient harlequin ichthyosis model mice. Am J Pathol (2010) 0.84
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Discovery in genetic skin disease: the impact of high throughput genetic technologies. Genes (Basel) (2014) 0.78
The polarity protein Scrib mediates epidermal development and exerts a tumor suppressive function during skin carcinogenesis. Mol Cancer (2015) 0.77
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
Inducible expression of human beta-defensin 2 by Fusobacterium nucleatum in oral epithelial cells: multiple signaling pathways and role of commensal bacteria in innate immunity and the epithelial barrier. Infect Immun (2000) 2.55
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
Ciclopirox nail lacquer topical solution 8% in the treatment of toenail onychomycosis. J Am Acad Dermatol (2000) 2.18
Evaluation of a protocol for post-mortem examination of stillbirths. N Engl J Med (1983) 2.01
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
A large-scale North American study of fungal isolates from nails: the frequency of onychomycosis, fungal distribution, and antifungal susceptibility patterns. J Am Acad Dermatol (2000) 1.90
Long-term culture of murine epidermal keratinocytes. J Invest Dermatol (1999) 1.79
Marfan syndrome: abnormal alpha 2 chain in type I collagen. Proc Natl Acad Sci U S A (1981) 1.78
Abnormal alpha 2-chain in type I collagen from a patient with a form of osteogenesis imperfecta. J Clin Invest (1983) 1.71
Loss of normal profilaggrin and filaggrin in flaky tail (ft/ft) mice: an animal model for the filaggrin-deficient skin disease ichthyosis vulgaris. J Invest Dermatol (2000) 1.69
Expression of epidermal keratins and filaggrin during human fetal skin development. J Cell Biol (1985) 1.68
A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis. J Invest Dermatol (1993) 1.64
X-linked cutis laxa: defective cross-link formation in collagen due to decreased lysyl oxidase activity. N Engl J Med (1980) 1.62
Caspase-14, a keratinocyte specific caspase: mRNA splice variants and expression pattern in embryonic and adult mouse. Cell Death Differ (2001) 1.59
Localized antimicrobial peptide expression in human gingiva. J Periodontal Res (2001) 1.58
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences. Hum Mol Genet (2000) 1.53
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
Prenatal diagnosis of 45,X/46,XX mosaicism and 45,X: implications for postnatal outcome. Am J Hum Genet (1995) 1.46
Comparison of endovascular and conventional vascular prostheses in an experimental infection model. J Vasc Surg (1996) 1.45
Evidence for a Turner syndrome locus or loci at Xp11.2-p22.1. Am J Hum Genet (1998) 1.44
Cimetidine therapy for multiple viral warts in children. J Am Acad Dermatol (1996) 1.43
Acute fulminant hepatitis after treatment with rabeprazole and terbinafine. Arch Intern Med (2001) 1.42
Abnormal collagen fibril structure in the gravis form (type I) of Ehlers-Danlos syndrome. Lab Invest (1979) 1.36
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
Trichodysplasia spinulosa--a newly described folliculocentric viral infection in an immunocompromised host. J Investig Dermatol Symp Proc (1999) 1.33
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
Characterization of the human epidermal profilaggrin gene. Genomic organization and identification of an S-100-like calcium binding domain at the amino terminus. J Biol Chem (1992) 1.26
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
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
The spectrum and evolution of phenotypic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. J Med Genet (2001) 1.21
Palmar-plantar keratoderma. A clinical, ultrastructural, and biochemical study. J Am Acad Dermatol (1988) 1.20
Characterization of two monoclonal antibodies to human epidermal keratohyalin: reactivity with filaggrin and related proteins. J Invest Dermatol (1987) 1.17
Pregnancy complications in type IV Ehlers-Danlos Syndrome. Lancet (1983) 1.16
Ichthyosis vulgaris: identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules. J Invest Dermatol (1985) 1.14
Properties of carcinogen altered mouse epidermal cells resistant to calcium-induced terminal differentiation. Carcinogenesis (1983) 1.13
Collagen types I, III, and V in human embryonic and fetal skin. Am J Anat (1986) 1.11
Abnormal lamellar granules in harlequin ichthyosis. J Invest Dermatol (1992) 1.10
The impact of onychomycosis on quality of life: development of an international onychomycosis-specific questionnaire to measure patient quality of life. J Am Acad Dermatol (1999) 1.09
Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes. Hum Genet (1992) 1.09
Detection of beta-defensins secreted by human oral epithelial cells. J Immunol Methods (2001) 1.09
A collagen and elastic network in the wing of the bat. J Anat (1978) 1.09
Epidermal and dermal integration into sphere-templated porous poly(2-hydroxyethyl methacrylate) implants in mice. J Biomed Mater Res A (2010) 1.08
Variable expression in a dominantly inherited skeletal dysplasia with similarities to brachydactyly E and spondyloepiphyseal-spondyloperipheral dysplasia. Clin Genet (1979) 1.07
Novel transglutaminase-1 mutations and genotype-phenotype investigations of 104 patients with autosomal recessive congenital ichthyosis in the USA. J Med Genet (2008) 1.06
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
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
Severe skin erosions and scalp infections in AEC syndrome. Pediatr Dermatol (1993) 1.02
Regulated expression of human filaggrin in keratinocytes results in cytoskeletal disruption, loss of cell-cell adhesion, and cell cycle arrest. Exp Cell Res (2001) 1.01
Aplasia cutis congenita: a report of 12 new families and review of the literature. Pediatr Dermatol (1985) 1.01
Prenatal diagnosis of lethal perinatal osteogenesis imperfecta (OI type II). J Pediatr (1982) 1.01
Restrictive dermopathy: a newly recognized autosomal recessive skin dysplasia. Am J Med Genet (1986) 1.00
Structure of the dermal matrix during development and in the adult. J Invest Dermatol (1982) 1.00
Community treatment with azithromycin for trachoma is not associated with antibiotic resistance in Streptococcus pneumoniae at 1 year. Br J Ophthalmol (2003) 1.00
Differentiation of cultured keratinocytes promotes the adherence of Streptococcus pyogenes. J Clin Invest (1998) 0.99
A new variety of spondyloepiphyseal dysplasia characterized by punctate corneal dystrophy and abnormal dermal collagen fibrils. Hum Genet (1978) 0.99
Phenotypic expression of epidermal cells in vitro: a review. J Invest Dermatol (1983) 0.98
Postinflammatory elastolysis and cutis laxa. A case report. J Am Acad Dermatol (1990) 0.98
Intra-epidermal retention of type VII collagen in a patient with recessive dystrophic epidermolysis bullosa. J Invest Dermatol (1990) 0.98
Arrested epidermal morphogenesis in three newborn infants with a fatal genetic disorder (restrictive dermopathy). J Invest Dermatol (1987) 0.97
Independent regulation of two cytoplasmic processing stages of the intermediate filament-associated protein filaggrin and role of Ca2+ in the second stage. J Biol Chem (1993) 0.97
Dermatosparaxis in a Himalayan cat: I. Biochemical studies of dermal collagen. J Invest Dermatol (1980) 0.97
A mouse model to evaluate the interface between skin and a percutaneous device. J Biomed Mater Res A (2007) 0.97
Dermatosparaxis in a Himalayan cat: II. Ultrastructural studies of dermal collagen. J Invest Dermatol (1980) 0.97
Expression of the antimicrobial peptide, human beta-defensin 1, in duct cells of minor salivary glands and detection in saliva. J Dent Res (2000) 0.97
Mouse differentiation-specific keratins 1 and 10 require a preexisting keratin scaffold to form a filament network. J Cell Biol (1993) 0.96
Characteristic morphologic abnormality of harlequin ichthyosis detected in amniotic fluid cells. J Invest Dermatol (1994) 0.96
Fatal cardiovascular disease and cutis laxa following acute febrile neutrophilic dermatosis. J Pediatr (1983) 0.96
Label-retaining cells in human embryonic and fetal epidermis. J Invest Dermatol (1987) 0.96
Defective integrin alpha 6 beta 4 expression in the skin of patients with junctional epidermolysis bullosa and pyloric atresia. J Invest Dermatol (1996) 0.95
Phenotypic effects of mosaicism for a 47,XXX cell line in Turner syndrome. J Med Genet (2002) 0.95
Ontogeny of structural components at the dermal-epidermal junction in human embryonic and fetal skin: the appearance of anchoring fibrils and type VII collagen. J Invest Dermatol (1988) 0.95
Structure of the human fetal hair canal and initial hair eruption. J Invest Dermatol (1978) 0.95
Epidermolytic hyperkeratosis: ultrastructure and biochemistry of skin and amniotic fluid cells from two affected fetuses and a newborn infant. J Invest Dermatol (1983) 0.94
Incontinentia pigmenti. Semin Cutan Med Surg (1997) 0.94
Evidence for specific proteolytic cleavage of the N-terminal domain of human profilaggrin during epidermal differentiation. J Invest Dermatol (1997) 0.94
Human epidermal embryogenesis. Int J Dermatol (1979) 0.94
Anatomy and physiology of the nail. Dermatol Clin (1985) 0.93
Characterization of two distinct calcium-binding sites in the amino-terminus of human profilaggrin. J Invest Dermatol (1995) 0.92
Factors influencing calcium-induced terminal differentiation in cultured mouse epidermal cells. J Cell Physiol (1983) 0.92
Idiopathic extrahepatic biliary atresia: recurrence in sibs in two families. Am J Med Genet (1988) 0.92
Characterization of hair follicle bulge in human fetal skin: the human fetal bulge is a pool of undifferentiated keratinocytes. J Invest Dermatol (1995) 0.92
Abnormal epidermal keratinization in the repeated epilation mutant mouse. J Cell Biol (1982) 0.91
Transient expression of epidermal filaggrin in cultured cells causes collapse of intermediate filament networks with alteration of cell shape and nuclear integrity. J Invest Dermatol (1997) 0.91
Immunolocalization of FXIIIa+ dendritic cells in human burn wounds. J Surg Res (1995) 0.91
Outcome after surgical repair of junctional epidermolysis bullosa-pyloric atresia syndrome: a report of 3 cases and review of the literature. Arch Dermatol (1999) 0.91