A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering
EB Lane, EL Rugg, H Navsaria, IM Leigh… - Nature, 1992 - nature.com
IN the hereditary blistering condition epidermolysis bullosa simplex, the skin blisters on
trauma following rupture of epidermal basal cells. Clinical variations range from severely …
trauma following rupture of epidermal basal cells. Clinical variations range from severely …
A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex
A Hovnanian, E Pollack, L Hilal, A Rochat, C Prost… - nature genetics, 1993 - nature.com
Epidermolysis bullosa simplex (EBS) is a group of epidermal blistering diseases almost
invariably transmitted as a dominant trait, which has recently been shown to arise from …
invariably transmitted as a dominant trait, which has recently been shown to arise from …
Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses
PA Coulombe, ME Hutton, A Letal, A Hebert, AS Paller… - Cell, 1991 - cell.com
Previously we demonstrated that transgenic mice expressing mutant basal epidermal keratin
genes exhibited a phenotype resembling a group of autosomal dominant human skin …
genes exhibited a phenotype resembling a group of autosomal dominant human skin …
Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex.
A Letai, PA Coulombe, MB McCormick… - Proceedings of the …, 1993 - National Acad Sciences
Keratins are the major structural proteins of the epidermis. Recently, it was discovered that
point mutations in the epidermal keratins can lead to the blistering skin diseases …
point mutations in the epidermal keratins can lead to the blistering skin diseases …
A human keratin 14" knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein.
Y Chan, I Anton-Lamprecht, QC Yu… - Genes & …, 1994 - genesdev.cshlp.org
Since their discovery, the function of intermediate filaments (IFs) has remained obscure. In
skin, epidermal cells have extensive cytoskeletal architectures of IFs, composed of type I and …
skin, epidermal cells have extensive cytoskeletal architectures of IFs, composed of type I and …
A function for keratins and a common thread among different types of epidermolysis bullosa simplex diseases.
PA Coulombe, ME Hutton, R Vassar… - The Journal of cell …, 1991 - rupress.org
Previously we demonstrated that transgenic mice expressing a mutant keratin in the basal
layer of their stratified squamous epithelia exhibited a phenotype bearing resemblance to a …
layer of their stratified squamous epithelia exhibited a phenotype bearing resemblance to a …
A functional" knockout" of human keratin 14.
EL Rugg, WH McLean, EB Lane, R Pitera… - Genes & …, 1994 - genesdev.cshlp.org
The importance of keratins and other intermediate filaments in the maintenance of tissue
structure is emphasized by the discovery that many hereditary skin-blistering diseases are …
structure is emphasized by the discovery that many hereditary skin-blistering diseases are …
Molecular genetics of epidermolysis bullosa
EH Epstein Jr - Science, 1992 - science.org
Blisters following minor trauma characterize epidermolysis bullosa, a group of hereditary
diseases of the skin. In the simplex type, epidermal basal cells are fragile, and mutations of …
diseases of the skin. In the simplex type, epidermal basal cells are fragile, and mutations of …
Keratins and disease at a glance
RL Haines, EB Lane - Journal of cell science, 2012 - journals.biologists.com
Keratins are cytoskeletal filament-forming proteins found in skin and other epithelial (sheet)
tissues (Table 1). Keratins (type I and II), and other highly related (types III–VI) intermediate …
tissues (Table 1). Keratins (type I and II), and other highly related (types III–VI) intermediate …
The molecular genetics of keratin disorders
FJD Smith - American journal of clinical dermatology, 2003 - Springer
Keratins are the type I and II intermediate filament proteins which form a cytoskeletal network
within all epithelial cells. They are expressed in pairs in a tissue-and differentiation-specific …
within all epithelial cells. They are expressed in pairs in a tissue-and differentiation-specific …