Expression of a truncated keratin 5 may contribute to severe palmar--plantar hyperkeratosis in epidermolysis bullosa simplex patients.

PubWeight™: 0.89‹?›

🔗 View Article (PMID 11407989)

Published in J Invest Dermatol on June 01, 2001

Authors

R J Livingston1, V P Sybert, L T Smith, B A Dale, R B Presland, K Stephens

Author Affiliations

1: Department of Pathology, University of Washington, Seattle, Washington 98195, USA.

Articles by these authors

A genetic linkage map of the human genome. Cell (1987) 13.37

Molecular biology of osmoregulation. Science (1984) 8.55

Mice that lack thrombospondin 2 display connective tissue abnormalities that are associated with disordered collagen fibrillogenesis, an increased vascular density, and a bleeding diathesis. J Cell Biol (1998) 3.27

Glycine betaine confers enhanced osmotolerance and cryotolerance on Listeria monocytogenes. J Bacteriol (1994) 2.85

Selective deficits in visual perception and recognition in schizophrenia. Am J Psychiatry (1996) 2.76

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

Interleukin 20: discovery, receptor identification, and role in epidermal function. Cell (2001) 2.45

Osmosensing and osmoregulatory compatible solute accumulation by bacteria. Comp Biochem Physiol A Mol Integr Physiol (2001) 2.36

Characterization of a class of cationic proteins that specifically interact with intermediate filaments. Proc Natl Acad Sci U S A (1981) 2.15

Morphogenetic movements and multicellular development in the fruiting Myxobacterium, Stigmatella aurantiaca. Dev Biol (1978) 2.12

Evaluation of a protocol for post-mortem examination of stillbirths. N Engl J Med (1983) 2.01

Human ehrlichiosis in the UK. Lancet (1995) 1.96

Assembly of stratum corneum basic protein and keratin filaments in macrofibrils. Nature (1978) 1.96

Origins of the AIDS viruses, HIV-1 and HIV-2: fact or fiction. J R Soc Med (1989) 1.94

Light-stimulated morphogenesis in the fruiting myxobacterium Stigmatella aurantiaca. Science (1978) 1.88

Expression of the peptide antibiotic human beta-defensin 1 in cultured gingival epithelial cells and gingival tissue. Infect Immun (1998) 1.86

A link between cell movement and gene expression argues that motility is required for cell-cell signaling during fruiting body development. Genes Dev (1988) 1.82

Epithelial structural proteins of the skin and oral cavity: function in health and disease. Crit Rev Oral Biol Med (2000) 1.82

Internet access to patients' records. Lancet (1998) 1.80

Marfan syndrome: abnormal alpha 2 chain in type I collagen. Proc Natl Acad Sci U S A (1981) 1.78

Roles of N-acetylglutaminylglutamine amide and glycine betaine in adaptation of Pseudomonas aeruginosa to osmotic stress. Appl Environ Microbiol (1993) 1.73

Epithelial antimicrobial peptides: review and significance for oral applications. Crit Rev Oral Biol Med (1998) 1.71

Identification of an ATP-driven, osmoregulated glycine betaine transport system in Listeria monocytogenes. Appl Environ Microbiol (1999) 1.70

Prevalence of antibody indicating Lyme disease in farmers in Wigtownshire. BMJ (1989) 1.69

Dermatosparaxis in children. A case report and review of the newly recognized phenotype. Arch Dermatol (1993) 1.69

Expression of epidermal keratins and filaggrin during human fetal skin development. J Cell Biol (1985) 1.68

Pheromone produced by the myxobacterium Stigmatella aurantiaca. J Bacteriol (1982) 1.67

A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis. J Invest Dermatol (1993) 1.64

Recombination hotspot in NF1 microdeletion patients. Hum Mol Genet (2001) 1.61

Caspase-14, a keratinocyte specific caspase: mRNA splice variants and expression pattern in embryonic and adult mouse. Cell Death Differ (2001) 1.59

Sodium-driven, osmotically activated glycine betaine transport in Listeria monocytogenes membrane vesicles. J Bacteriol (1996) 1.56

Deletions spanning the neurofibromatosis 1 gene: identification and phenotype of five patients. Am J Hum Genet (1994) 1.56

Basic fibroblast growth factor enhances the coupling of intimal hyperplasia and proliferation of vasa vasorum in injured rat arteries. J Clin Invest (1992) 1.55

NF1 microdeletion breakpoints are clustered at flanking repetitive sequences. Hum Mol Genet (2000) 1.53

CCAAT/enhancer binding protein epsilon is preferentially up-regulated during granulocytic differentiation and its functional versatility is determined by alternative use of promoters and differential splicing. Proc Natl Acad Sci U S A (1997) 1.50

Fine mapping of the autosomal dominant split hand/split foot locus on chromosome 7, band q21.3-q22.1. Am J Hum Genet (1994) 1.48

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

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

Trichodysplasia spinulosa--a newly described folliculocentric viral infection in an immunocompromised host. J Investig Dermatol Symp Proc (1999) 1.33

Molecular characterization of the bet genes encoding glycine betaine synthesis in Sinorhizobium meliloti 102F34. Microbiology (1997) 1.32

Diagnostic value of antibodies to filaggrin in rheumatoid arthritis. J Rheumatol (1998) 1.32

Purification and characterization of a basic protein from the stratum corneum of mammalian epidermis. Biochim Biophys Acta (1977) 1.32

Identification of NF1 mutations in both alleles of a dermal neurofibroma. Nat Genet (1996) 1.27

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

Characterization of three choline transport activities in Rhizobium meliloti: modulation by choline and osmotic stress. J Bacteriol (1989) 1.26

The characterization of human epidermal filaggrin. A histidine-rich, keratin filament-aggregating protein. Biochim Biophys Acta (1983) 1.25

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

Effect of the folic acid analogue, trimethoprim, on growth, macromolecular synthesis, and incorporation of exogenous thymine in Escherichia coli. J Bacteriol (1972) 1.23

Filaggrin: a keratin filament associated protein. Ann N Y Acad Sci (1985) 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

A prominent role for glucosylglycerol in the adaptation of Pseudomonas mendocina SKB70 to osmotic stress. J Bacteriol (1994) 1.20

Palmar-plantar keratoderma. A clinical, ultrastructural, and biochemical study. J Am Acad Dermatol (1988) 1.20

The order of loci in the pericentric region of chromosome 17, based on evidence from physical and genetic breakpoints. Am J Hum Genet (1989) 1.18

Function of PU.1 (Spi-1), C/EBP, and AML1 in early myelopoiesis: regulation of multiple myeloid CSF receptor promoters. Curr Top Microbiol Immunol (1996) 1.18

Proprotein convertase expression and localization in epidermis: evidence for multiple roles and substrates. Exp Dermatol (2001) 1.17

Characterization of two monoclonal antibodies to human epidermal keratohyalin: reactivity with filaggrin and related proteins. J Invest Dermatol (1987) 1.17

Ichthyosis vulgaris: identification of a defect in synthesis of filaggrin correlated with an absence of keratohyaline granules. J Invest Dermatol (1985) 1.14

Familial neurofibromatosis 1 microdeletions: cosegregation with distinct facial phenotype and early onset of cutaneous neurofibromata. Am J Med Genet (1997) 1.14

Use of a promoterless Renilla luciferase vector as an internal control plasmid for transient co-transfection assays of Ras-mediated transcription activation. Biotechniques (1999) 1.13

Communication skills training in postgraduate medicine: the development of a new course. Postgrad Med J (2004) 1.12

Differential regulation of immune responses by odontoblasts. Oral Microbiol Immunol (2007) 1.12

Genetic analysis of the virD operon of Agrobacterium tumefaciens: a search for functions involved in transport of T-DNA into the plant cell nucleus and in T-DNA integration. J Bacteriol (1993) 1.12

Photocontrol of development by Stigmatella aurantiaca. J Bacteriol (1980) 1.11

Collagen types I, III, and V in human embryonic and fetal skin. Am J Anat (1986) 1.11

Morphogenetic effects of light and guanine derivatives on the fruiting myxobacterium Stigmatella aurantiaca. J Bacteriol (1980) 1.11

Single-nucleotide polymorphisms and haplotype analysis in beta-defensin genes in different ethnic populations. Genet Test (2002) 1.11

Immunologic cross-reaction of stratum corneum basic protein and a keratohyalin granule protein. J Invest Dermatol (1979) 1.11

Abnormal lamellar granules in harlequin ichthyosis. J Invest Dermatol (1992) 1.10

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

Effects of specific cations on aggregation and fruiting body morphology in the myxobacterium Stigmatella aurantiaca. J Bacteriol (1980) 1.09

A phosphorylated keratohyalin-derived precursor of epidermal stratum corneum basic protein. J Biol Chem (1980) 1.08

Identification of proteolytic cleavage sites in the conversion of profilaggrin to filaggrin in mammalian epidermis. J Biol Chem (1989) 1.08

Identification of two intermediates during processing of profilaggrin to filaggrin in neonatal mouse epidermis. J Cell Biol (1984) 1.08

The identification of fibrous proteins in fetal rat epidermis by electrophoretic and immunologic techniques. J Invest Dermatol (1976) 1.08

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

Purification, properties, and kinetic mechanism of coenzyme A-linked aldehyde dehydrogenase from Clostridium kluyveri. Arch Biochem Biophys (1980) 1.05

Ehlers-Danlos syndrome type VIIA and VIIB result from splice-junction mutations or genomic deletions that involve exon 6 in the COL1A1 and COL1A2 genes of type I collagen. Am J Med Genet (1997) 1.03

Chromosome 17 markers and von Recklinghausen neurofibromatosis: a genetic linkage study in a British population. Genomics (1987) 1.03

Profilaggrin, a high-molecular-weight precursor of filaggrin in human epidermis and cultured keratinocytes. J Invest Dermatol (1985) 1.03

Large de novo DNA deletion in a patient with sporadic neurofibromatosis 1, mental retardation, and dysmorphism. J Med Genet (1992) 1.03

Pheromones among the procaryotes. Crit Rev Microbiol (1986) 1.02

Evidence for locus heterogeneity in human autosomal dominant split hand/split foot malformation. Am J Hum Genet (1994) 1.02

Synergistic effects of oesterogen and progesterone on ovomucoid and conalbumin mRNA synthesis in chick oviduct. Nat New Biol (1973) 1.02

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

Characterization of a gamma-glutamyl kinase from Escherichia coli that confers proline overproduction and osmotic tolerance. J Bacteriol (1985) 1.01

Aplasia cutis congenita: a report of 12 new families and review of the literature. Pediatr Dermatol (1985) 1.01

Translocation of profilaggrin N-terminal domain into keratinocyte nuclei with fragmented DNA in normal human skin and loricrin keratoderma. Lab Invest (1998) 1.01

Expression of defensins in gingiva and their role in periodontal health and disease. Curr Pharm Des (2007) 1.01

Phosphate regulates osteopontin gene transcription. J Dent Res (2009) 1.00

Restrictive dermopathy: a newly recognized autosomal recessive skin dysplasia. Am J Med Genet (1986) 1.00