Cell
Volume 66, Issue 6, 20 September 1991, Pages 1301-1311
ArticlePoint mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses
References (49)
- et al.
Single-step method of RNA isolation by acid guanidinium thiocyanate-phenol-chloroform extraction
Anal. Biochem.
(1987) - et al.
Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa
J. Am. Acad. Dermatol.
(1991) - et al.
Changes in keratin gene expression during terminal differentiation of the keratinocyte
Cell
(1980) - et al.
Ultrastructure of blister formation in epidermolysis bullosa hereditaria: V. Epidermolysis bullosa simplex localisata type Weber-Cockayne
J. Invest. Dermatol.
(1982) - et al.
The cDNA sequence of a human epidermal keratin: divergence of sequence but conservation of structure among intermediate filament proteins
Cell
(1982) - et al.
Mutations of phosphorylation sites in lamin A that prevent nuclear lamina disassembly in mitosis
Cell
(1990) Amplification of RNA
- et al.
Retrovirus-mediated transgenic keratin expression in cultured fibroblasts: specific domain functions in keratin stabilization and filament formation
Cell
(1990) - et al.
Remarkable conservation of structure among intermediate filament genes
Cell
(1984) - et al.
Regulated expression of differentiation-associated keratins in cultured epidermal cells detected by monospecific antibodies to unique peptides of mouse epidermal keratins
Differentiation
(1987)
Generalized dominant epidermolysis bullosa simplex: decreased activity of a gelatinolytic protease in cultured fibroblasts as a phenotype marker
J. Invest. Dermatol.
(1983)
Cloning in single-stranded bacteriophage as an aid to rapid DNA sequencing
J. Mol. Biol.
(1980)
Keratin filaments in cultured human epidermal cells
J. Biol. Chem.
(1978)
Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease
Cell
(1991)
A new small (40 kd) keratin filament protein made by some cultured human squamous cell carcinomas
Cell
(1981)
The mesothelial keratins: a new family of cytoskeleton proteins identified in cultured mesothelial cells and nonkeratinizing epithelia
Cell
(1982)
Unifying principles in intermediate filament (IF) structure and assembly
Protoplasma
(1988)
The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines
J. Cell Biol.
(1987)
Expression of mutant keratin cDNAs in epithelial cells reveals possible mechanisms for initiation and assembly of intermediate filaments
J. Cell Biol.
(1989)
Genetically induced abnormalities of epidermal differentiation and ultrastructure in ichthyoses and epidermolysis: pathogenesis, heterogeneity, fetal manifestation, and prenatal diagnosis
J. Invest. Dermatol.
(1983)
Linkage of epidermolysis bullosa simplex to probes in the region of keratin gene clusters on chromosomes 12q and 17q
J. Invest. Dermatol.
(1991)
Elucidating the early stages of keratin filament assembly
J. Cell Biol.
(1990)
Expression of keratin K14 in the epidermis and hair follicle: insights into complex programs of differentiation
J. Cell Biol.
(1989)
Deletions in epidermal keratins that lead to alterations in filament organization and assembly: in vivo and in vitro studies
J. Cell Biol.
(1990)
Cited by (576)
Molecular and Genetic Understanding of Epidermal Skin and Skin Diseases: 2023 Benjamin Franklin Medal in Life Science presented to Elaine Fuchs, Ph.D.
2023, Journal of the Franklin InstitutePosttranslational modifications of keratins and their associated proteins as therapeutic targets in keratin diseases
2023, Current Opinion in Cell BiologyPathomechanisms of epidermolysis bullosa: Beyond structural proteins
2022, Matrix BiologyA retrospective analysis of diagnostic testing in a large North American cohort of patients with epidermolysis bullosa
2022, Journal of the American Academy of DermatologyThe Past and Future of Rare Skin Disease Research and Therapy
2022, Journal of Investigative Dermatology
Copyright © 1991