The genetic basis of Weber-Cockayne epidermolysis bullosa simplex.

PubWeight™: 1.12‹?› | Rank: Top 10%

🔗 View Article (PMC 47148)

Published in Proc Natl Acad Sci U S A on August 01, 1993

Authors

Y M Chan1, Q C Yu, J D Fine, E Fuchs

Author Affiliations

1: Howard Hughes Medical Institute, Department of Molecular Genetics and Cell Biology, University of Chicago, IL 60637.

Articles citing this

New common variants affecting susceptibility to basal cell carcinoma. Nat Genet (2009) 4.15

Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility. J Clin Invest (2009) 2.06

Analysis of SM22alpha-deficient mice reveals unanticipated insights into smooth muscle cell differentiation and function. Mol Cell Biol (2001) 1.74

Head and/or CaaX domain deletions of lamin proteins disrupt preformed lamin A and C but not lamin B structure in mammalian cells. Mol Biol Cell (2000) 1.47

Susceptibility to hepatotoxicity in transgenic mice that express a dominant-negative human keratin 18 mutant. J Clin Invest (1996) 1.43

Intermediate filaments and disease: mutations that cripple cell strength. J Cell Biol (1994) 1.34

Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy. Am J Hum Genet (1997) 1.28

Defining keratin protein function in skin epithelia: epidermolysis bullosa simplex and its aftermath. J Invest Dermatol (2012) 1.16

Diseases of epidermal keratins and their linker proteins. Exp Cell Res (2007) 1.13

The genetic basis of epidermolysis bullosa simplex with mottled pigmentation. Proc Natl Acad Sci U S A (1996) 1.08

Keith R. Porter Lecture, 1996. Of mice and men: genetic disorders of the cytoskeleton. Mol Biol Cell (1997) 1.07

Expression of an epidermal keratin protein in liver of transgenic mice causes structural and functional abnormalities. J Cell Biol (1995) 0.98

Disorders of keratinisation: from rare to common genetic diseases of skin and other epithelial tissues. Ulster Med J (2007) 0.92

Genetic mutations in the K1 and K10 genes of patients with epidermolytic hyperkeratosis. Correlation between location and disease severity. J Clin Invest (1994) 0.91

Genetic disorders of palm skin and nail. J Anat (2003) 0.84

Characterization of structural changes in vimentin bearing an epidermolysis bullosa simplex-like mutation using site-directed spin labeling and electron paramagnetic resonance. J Biol Chem (2004) 0.84

Identifying the role of specific motifs in the lens fiber cell specific intermediate filament phakosin. Invest Ophthalmol Vis Sci (2007) 0.75

In vitro analysis of photosensitizer accumulation for assessment of applicability of fluorescence diagnosis of squamous cell carcinoma of epidermolysis bullosa patients. Biomed Res Int (2012) 0.75

Articles cited by this

A second-generation linkage map of the human genome. Nature (1992) 16.32

The CpG dinucleotide and human genetic disease. Hum Genet (1988) 7.86

In vitro disassembly of the nuclear lamina and M phase-specific phosphorylation of lamins by cdc2 kinase. Cell (1990) 4.57

Mutations of phosphorylation sites in lamin A that prevent nuclear lamina disassembly in mitosis. Cell (1990) 4.12

Epidermolysis bullosa simplex: evidence in two families for keratin gene abnormalities. Science (1991) 3.93

Identification of cell cycle-regulated phosphorylation sites on nuclear lamin C. Cell (1990) 3.67

Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. Cell (1991) 3.49

Substrate specificity of protein kinase C. Use of synthetic peptides corresponding to physiological sites as probes for substrate recognition requirements. Eur J Biochem (1986) 3.37

Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease. Cell (1991) 2.98

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

A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering. Nature (1992) 2.49

Intermediate filament reorganization during mitosis is mediated by p34cdc2 phosphorylation of vimentin. Cell (1990) 2.08

A function for keratins and a common thread among different types of epidermolysis bullosa simplex diseases. J Cell Biol (1991) 1.80

Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis. Science (1992) 1.73

Isolation, sequence, and expression of a human keratin K5 gene: transcriptional regulation of keratins and insights into pairwise control. Mol Cell Biol (1989) 1.56

The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes. Cell (1992) 1.51

Phosphorylation on protein kinase C sites inhibits nuclear import of lamin B2. J Cell Biol (1993) 1.49

A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis. Cell (1992) 1.46

Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex. Proc Natl Acad Sci U S A (1993) 1.41

The molecular biology of intermediate filament proteins. Int Rev Cytol (1992) 1.40

Extensive size polymorphism of the human keratin 10 chain resides in the C-terminal V2 subdomain due to variable numbers and sizes of glycine loops. Proc Natl Acad Sci U S A (1992) 1.39

Intermediate filament reconstitution in vitro. The role of phosphorylation on the assembly-disassembly of desmin. J Biol Chem (1988) 1.33

The roles of K5 and K14 head, tail, and R/K L L E G E domains in keratin filament assembly in vitro. J Cell Biol (1992) 1.28

A group of type I keratin genes on human chromosome 17: characterization and expression. Mol Cell Biol (1988) 1.27

Do the ends justify the mean? Proline mutations at the ends of the keratin coiled-coil rod segment are more disruptive than internal mutations. J Cell Biol (1992) 1.18

Genetically induced abnormalities of epidermal differentiation and ultrastructure in ichthyoses and epidermolyses: pathogenesis, heterogeneity, fetal manifestation, and prenatal diagnosis. J Invest Dermatol (1983) 1.16

Abnormal organization of keratin intermediate filaments in cultured keratinocytes of epidermolysis bullosa simplex. Arch Dermatol Res (1989) 1.15

Mapping of epidermolysis bullosa simplex mutation to chromosome 12. Am J Hum Genet (1991) 1.01

Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12. Cytogenet Cell Genet (1991) 0.97

Polymorphic keratins in human epidermis. J Invest Dermatol (1987) 0.94

The sequence of the human epidermal 58-kD (#5) type II keratin reveals an absence of 5' upstream sequence conservation between coexpressed epidermal keratins. DNA (1988) 0.85

Linkage of epidermolysis bullosa simplex to keratin gene loci. J Med Genet (1992) 0.82

Articles by these authors

Multiple roles for activated LEF/TCF transcription complexes during hair follicle development and differentiation. Development (1999) 9.82

Directed actin polymerization is the driving force for epithelial cell-cell adhesion. Cell (2000) 8.13

De Novo hair follicle morphogenesis and hair tumors in mice expressing a truncated beta-catenin in skin. Cell (1998) 7.95

The magical touch: genome targeting in epidermal stem cells induced by tamoxifen application to mouse skin. Proc Natl Acad Sci U S A (1999) 7.67

Mefloquine compared with other malaria chemoprophylactic regimens in tourists visiting east Africa. Lancet (1993) 5.99

Klf4 is a transcription factor required for establishing the barrier function of the skin. Nat Genet (1999) 5.91

Changes in keratin gene expression during terminal differentiation of the keratinocyte. Cell (1980) 5.83

Hyperproliferation and defects in epithelial polarity upon conditional ablation of alpha-catenin in skin. Cell (2001) 5.01

Tcf3 and Lef1 regulate lineage differentiation of multipotent stem cells in skin. Genes Dev (2001) 4.62

Neurogenesis in the dentate gyrus of the adult tree shrew is regulated by psychosocial stress and NMDA receptor activation. J Neurosci (1997) 4.00

A common human skin tumour is caused by activating mutations in beta-catenin. Nat Genet (1999) 3.93

Genome-wide, large-scale production of mutant mice by ENU mutagenesis. Nat Genet (2000) 3.92

Human papillomavirus type 16 alters human epithelial cell differentiation in vitro. Proc Natl Acad Sci U S A (1988) 3.73

Beta4 integrin is required for hemidesmosome formation, cell adhesion and cell survival. J Cell Biol (1996) 3.68

Regulation of terminal differentiation of cultured human keratinocytes by vitamin A. Cell (1981) 3.61

Programming gene expression in developing epidermis. Development (1994) 3.60

Tissue-specific and differentiation-specific expression of a human K14 keratin gene in transgenic mice. Proc Natl Acad Sci U S A (1989) 3.55

Proliferation of granule cell precursors in the dentate gyrus of adult monkeys is diminished by stress. Proc Natl Acad Sci U S A (1998) 3.53

Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses. Cell (1991) 3.49

Conditional ablation of beta1 integrin in skin. Severe defects in epidermal proliferation, basement membrane formation, and hair follicle invagination. J Cell Biol (2000) 3.38

Desmoplakin is essential in epidermal sheet formation. Nat Cell Biol (2001) 3.31

The cDNA sequence of a human epidermal keratin: divergence of sequence but conservation of structure among intermediate filament proteins. Cell (1982) 3.08

Stress-induced changes in cerebral metabolites, hippocampal volume, and cell proliferation are prevented by antidepressant treatment with tianeptine. Proc Natl Acad Sci U S A (2001) 3.01

Lymphoid enhancer factor 1 directs hair follicle patterning and epithelial cell fate. Genes Dev (1995) 2.99

Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease. Cell (1991) 2.98

The cDNA sequence of a Type II cytoskeletal keratin reveals constant and variable structural domains among keratins. Cell (1983) 2.92

Use of monospecific antisera and cRNA probes to localize the major changes in keratin expression during normal and abnormal epidermal differentiation. J Cell Biol (1988) 2.88

Initiation of DNA-dependent RNA synthesis and the effect of heparin on RNA polymerase. Eur J Biochem (1967) 2.87

The expression of keratin genes in epidermis and cultured epidermal cells. Cell (1978) 2.87

Keratinocyte growth factor is required for hair development but not for wound healing. Genes Dev (1996) 2.82

The initiation of translation in E. coli: apparent base pairing between the 16srRNA and downstream sequences of the mRNA. Nucleic Acids Res (1990) 2.81

Transgenic mice provide new insights into the role of TGF-alpha during epidermal development and differentiation. Genes Dev (1991) 2.78

Gene targeting of BPAG1: abnormalities in mechanical strength and cell migration in stratified epithelia and neurologic degeneration. Cell (1995) 2.75

Chronic psychosocial stress causes apical dendritic atrophy of hippocampal CA3 pyramidal neurons in subordinate tree shrews. J Neurosci (1996) 2.73

High resolution genomic analysis of sporadic breast cancer using array-based comparative genomic hybridization. Breast Cancer Res (2005) 2.72

Retinoids as important regulators of terminal differentiation: examining keratin expression in individual epidermal cells at various stages of keratinization. J Cell Biol (1987) 2.62

The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines. J Cell Biol (1987) 2.61

Activation of innate immunity in nonhuman primates following intraportal administration of adenoviral vectors. Mol Ther (2001) 2.53

The C terminus of human immunodeficiency virus type 1 matrix protein is involved in early steps of the virus life cycle. J Virol (1992) 2.51

A randomized controlled trial of a reduced daily dose of zidovudine in patients with the acquired immunodeficiency syndrome. The AIDS Clinical Trials Group. N Engl J Med (1990) 2.50

Hippocampal neurogenesis in adult Old World primates. Proc Natl Acad Sci U S A (1999) 2.37

Stress revisited: a critical evaluation of the stress concept. Neurosci Biobehav Rev (2011) 2.37

Diagnosis and management of ureteroiliac artery fistula: value of provocative arteriography followed by common iliac artery embolization and extraanatomic arterial bypass grafting. J Urol (1997) 2.27

Complementary DNA sequence of a human cytoplasmic actin. Interspecies divergence of 3' non-coding regions. J Mol Biol (1983) 2.25

An Epstein-Barr virus transforming protein associates with vimentin in lymphocytes. Mol Cell Biol (1987) 2.22

Multiple keratins of cultured human epidermal cells are translated from different mRNA molecules. Cell (1979) 2.18

The vpx gene of simian immunodeficiency virus facilitates efficient viral replication in fresh lymphocytes and macrophage. J Virol (1991) 2.18

Actin dynamics and cell-cell adhesion in epithelia. Curr Opin Cell Biol (2001) 2.15

Desmoplakin is required early in development for assembly of desmosomes and cytoskeletal linkage. J Cell Biol (1998) 2.14

An essential cytoskeletal linker protein connecting actin microfilaments to intermediate filaments. Cell (1996) 2.09

Inhibition of skin development by targeted expression of a dominant-negative retinoic acid receptor. Nature (1995) 2.09

CD28/B7 regulation of Th1 and Th2 subsets in the development of autoimmune diabetes. Immunity (1996) 2.09

Remarkable conservation of structure among intermediate filament genes. Cell (1984) 2.07

The basal keratin network of stratified squamous epithelia: defining K15 function in the absence of K14. J Cell Biol (1995) 2.06

Purification of recombinant adeno-associated virus vectors by column chromatography and its performance in vivo. Hum Gene Ther (2000) 1.97

Evidence for posttranscriptional regulation of the keratins expressed during hyperproliferation and malignant transformation in human epidermis. J Cell Biol (1986) 1.89

Expression of mutant keratin cDNAs in epithelial cells reveals possible mechanisms for initiation and assembly of intermediate filaments. J Cell Biol (1989) 1.89

Making a connection: direct binding between keratin intermediate filaments and desmosomal proteins. J Cell Biol (1994) 1.87

Regulation of adult neurogenesis by stress, sleep disruption, exercise and inflammation: Implications for depression and antidepressant action. Eur Neuropsychopharmacol (2010) 1.85

A function for keratins and a common thread among different types of epidermolysis bullosa simplex diseases. J Cell Biol (1991) 1.80

Filovirus-pseudotyped lentiviral vector can efficiently and stably transduce airway epithelia in vivo. Nat Biotechnol (2001) 1.80

Elucidating the early stages of keratin filament assembly. J Cell Biol (1990) 1.80

FGF-7 modulates ureteric bud growth and nephron number in the developing kidney. Development (1999) 1.79

The ovo gene required for cuticle formation and oogenesis in flies is involved in hair formation and spermatogenesis in mice. Genes Dev (1998) 1.78

Complete sequence of a gene encoding a human type I keratin: sequences homologous to enhancer elements in the regulatory region of the gene. Proc Natl Acad Sci U S A (1985) 1.78

Defining the interactions between intermediate filaments and desmosomes. J Cell Biol (1998) 1.78

Genetic and clinical mosaicism in a type of epidermal nevus. N Engl J Med (1994) 1.72

Targeting expression of keratinocyte growth factor to keratinocytes elicits striking changes in epithelial differentiation in transgenic mice. EMBO J (1993) 1.70

The downstream box: an efficient and independent translation initiation signal in Escherichia coli. EMBO J (1996) 1.70

Transcription factor AP2 and its role in epidermal-specific gene expression. Proc Natl Acad Sci U S A (1991) 1.70

INS(GFP/w) human embryonic stem cells facilitate isolation of in vitro derived insulin-producing cells. Diabetologia (2011) 1.68

Transgenic studies with a keratin promoter-driven growth hormone transgene: prospects for gene therapy. Proc Natl Acad Sci U S A (1997) 1.68

Cachexia and graft-vs.-host-disease-type skin changes in keratin promoter-driven TNF alpha transgenic mice. Genes Dev (1992) 1.68

Unraveling the structure of the intermediate filaments. Cell (1983) 1.67

A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein. Genes Dev (1994) 1.65

Expression of keratin K14 in the epidermis and hair follicle: insights into complex programs of differentiation. J Cell Biol (1989) 1.64

A new look into an old problem: keratins as tools to investigate determination, morphogenesis, and differentiation in skin. Genes Dev (1989) 1.62

Type I and type II keratins have evolved from lower eukaryotes to form the epidermal intermediate filaments in mammalian skin. Proc Natl Acad Sci U S A (1983) 1.61

A dysfunctional desmin mutation in a patient with severe generalized myopathy. Proc Natl Acad Sci U S A (1998) 1.61

Autosomal dominant erythromelalgia. Am J Med Genet (1992) 1.61

Rescuing desmoplakin function in extra-embryonic ectoderm reveals the importance of this protein in embryonic heart, neuroepithelium, skin and vasculature. Development (2001) 1.60

An epidermal plakin that integrates actin and microtubule networks at cellular junctions. J Cell Biol (2000) 1.60

Expression of vascular endothelial growth factor and its receptors in human renal ontogenesis and in adult kidney. Am J Physiol (1995) 1.60

Probing keratinocyte and differentiation specificity of the human K5 promoter in vitro and in transgenic mice. Mol Cell Biol (1993) 1.59

Isolation, sequence, and expression of a human keratin K5 gene: transcriptional regulation of keratins and insights into pairwise control. Mol Cell Biol (1989) 1.56

Integrators of the cytoskeleton that stabilize microtubules. Cell (1999) 1.56

Mice expressing a mutant desmosomal cadherin exhibit abnormalities in desmosomes, proliferation, and epidermal differentiation. J Cell Biol (1996) 1.55

High-titer protamine-specific IgG antibody associated with anaphylaxis: report of a case and quantitative analysis of antibody in vasectomized men. Anesthesiology (1993) 1.54

Psychiatric reaction to dapsone and sulfapyridine. J Am Acad Dermatol (1983) 1.53

Role of conserved gp41 cysteine residues in the processing of human immunodeficiency virus envelope precursor and viral infectivity. J Virol (1991) 1.52

The sequence of a type II keratin gene expressed in human skin: conservation of structure among all intermediate filament genes. Proc Natl Acad Sci U S A (1985) 1.52