Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses
Data up to Jan 2025
Total Citations Per Year
Abstract
References (51)
DNA sequencing with chain-terminating inhibitors
1977 • 69,181 citations
Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction
1987 • 64,270 citations
Electrophoretic transfer of proteins from polyacrylamide gels to nitrocellulose sheets: procedure and some applications.
1979 • 54,907 citations
Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
1987 • 45,673 citations
PCR protocols — A guide to methods and applications
1990 • 10,078 citations
Rapid and efficient site-specific mutagenesis without phenotypic selection.
1985 • 7,573 citations
Seria cultivation of strains of human epidemal keratinocytes: the formation keratinizin colonies from single cell is
1975 • 4,443 citations
Cloning in single-stranded bacteriophage as an aid to rapid DNA sequencing
1980 • 3,476 citations
Changes in keratin gene expression during terminal differentiation of the keratinocyte
1980 • 1,059 citations
Mutations of phosphorylation sites in lamin A that prevent nuclear lamina disassembly in mitosis
1990 • 642 citations
The mesothelial keratins: A new family of cytoskeletal proteins identified in cultured mesothelial cells and nonkeratinizing epithelia
1982 • 523 citations
Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa
1991 • 511 citations
Keratin filaments of cultured human epidermal cells. Formation of intermolecular disulfide bonds during terminal differentiation.
1978 • 501 citations
AMPLIFICATION OF RNA
1990 • 486 citations
Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease
1991 • 413 citations
Use of monospecific antisera and cRNA probes to localize the major changes in keratin expression during normal and abnormal epidermal differentiation.
1988 • 359 citations
The 50- and 58-kdalton keratin classes as molecular markers for stratified squamous epithelia: cell culture studies.
1983 • 355 citations
The cDNA sequence of a human epidermal keratin: Divergence of sequence but conservation of structure among intermediate filament proteins
1982 • 298 citations
A new small (40 kd) keratin filament protein made by some cultured human squamous cell carcinomas
1981 • 254 citations
Elucidating the early stages of keratin filament assembly.
1990 • 243 citations
The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines.
1987 • 237 citations
Expression of mutant keratin cDNAs in epithelial cells reveals possible mechanisms for initiation and assembly of intermediate filaments.
1989 • 210 citations
Expression of keratin K14 in the epidermis and hair follicle: insights into complex programs of differentiation.
1989 • 196 citations
Regulated expression of differentiation-associated keratins in cultured epidermal cells detected by monospecific antibodies to unique peptides of mouse epidermal keratins
1987 • 187 citations
Assembly properties of dominant and recessive mutations in the small mouse neurofilament (NF-L) subunit.
1990 • 173 citations
Remarkable conservation of structure among intermediate filament genes
1984 • 169 citations
Retrovirus-mediated transgenic keratin expression in cultured fibroblasts: Specific domain functions in keratin stabilization and filament formation
1990 • 165 citations
Structure of a gene for the human epidermal 67-kDa keratin.
1985 • 160 citations
Type I and type II keratins have evolved from lower eukaryotes to form the epidermal intermediate filaments in mammalian skin.
1983 • 146 citations
Protein complexes of intermediate-sized filaments: melting of cytokeratin complexes in urea reveals different polypeptide separation characteristics.
1983 • 143 citations
A group of type I keratin genes on human chromosome 17: characterization and expression.
1988 • 142 citations
Deletions in epidermal keratins leading to alterations in filament organization in vivo and in intermediate filament assembly in vitro.
1990 • 135 citations
Structure of an invertebrate gene encoding cytoplasmic intermediate filament (IF) proteins: implications for the origin and the diversification of IF proteins.
1990 • 127 citations
Unifying principles in intermediate filament (IF) structure and assembly
1988 • 124 citations
Primary and secondary structure of hamster vimentin predicted from the nucleotide sequence.
1983 • 121 citations
Characterization of dominant and recessive assembly-defective mutations in mouse neurofilament NF-M.
1990 • 116 citations
Modulation of keratin intermediate filament assembly by single amino acid exchanges in the consensus sequence at the C-terminal end of the rod domain
1991 • 109 citations
Genetically Induced Abnormalities of Epidermal Differentiation and Ultrastructure in Ichthyoses and Epidermolyses: Pathogenesis, heterogeneity, Fetal Manifestation, and Prenatal Diagnosis
1983 • 101 citations
Dermatology in General Medicine
1972 • 82 citations
Abnormal organization of keratin intermediate filaments in cultured keratinocytes of epidermolysis bullosa simplex
1989 • 74 citations
Ultrastructure of Blister Formation in Epidermolysis Bullosa Hereditaria: V. Epidermolysis Bullosa Simplex Localisata Type Weber-Cockayne
1982 • 67 citations
Three epidermal and one simple epithelial type II keratin genes map to human chromosome 12
1991 • 62 citations
Tailless keratins assemble into regular intermediate filaments in vitro
1990 • 62 citations
Deficiency of Galactosylhydroxylysyl Glucosyltransferase, an Enzyme of Collagen Synthesis, in a Family with Dominant Epidermolysis Bullosa Simplex
1981 • 55 citations
Generalized Dominant Epidermolysis Bullosa Simplex: Decreased Activity of a Gelatinolytic Protease in Cultured Fibroblasts as a Phenotypic Marker
1983 • 36 citations
Epidermolysis Bullosa Simplex (Koebner) Is a Keratin Disorder
1991 • 34 citations
Inactivation of human keratin genes: the spectrum of mutations in the sequence of an acidic keratin pseudogene.
1988 • 29 citations
A Specific Defect in Glycosylation of Epidermal Cell Membranes
1985 • 21 citations
Epidermolysis Bullosa Simplex: Identification of a Kindred with Autosomal Recessive Transmission of the Weher‐Cockayne Variety
1989 • 18 citations
Epidermolysis bullosa simplex (Koebner) is a keratin disorder. Ultrastructural and immunohistochemical study
1991 • 8 citations
A specific defect in glycosylation of epidermal cell membranes. Definition in skin from patients with epidermolysis bullosa simplex
1985 • 8 citations
Cited By (0)
No citing papers found in database