(Q24306295)

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A human keratin 14 "knockout": the absence of K14 leads to severe epidermolysis bullosa simplex and a function for an intermediate filament protein

scientific article published on November 1, 1994

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

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GOA release 2020-03-11

epidermis development

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GOA release 2020-03-11

epidermolysis bullosa simplex

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based on heuristic

inferred from title

sequence deletion

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7525408

18 May 2024

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Y. Chan

1

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7525408

18 May 2024

I. Anton-Lamprecht

2

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7525408

18 May 2024

Q. C. Yu

3

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7525408

18 May 2024

A. Jäckel

4

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Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7525408

18 May 2024

B. Zabel

5

1 reference

Europe PubMed Central

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7525408

18 May 2024

J. P. Ernst

6

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Europe PubMed Central

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18 May 2024

E. Fuchs

7

1 reference

Europe PubMed Central

PubMed publication ID

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7525408

18 May 2024

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publication date

1 November 1994

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Genes & Development

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8

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21

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2574-87

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The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines

1 reference

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Expression of mutant keratin cDNAs in epithelial cells reveals possible mechanisms for initiation and assembly of intermediate filaments

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Genetically Induced Abnormalities of Epidermal Differentiation and Ultrastructure in Ichthyoses and Epidermolyses: Pathogenesis, heterogeneity, Fetal Manifestation, and Prenatal Diagnosis

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Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene Abnormalities

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The genetic basis of Weber-Cockayne epidermolysis bullosa simplex

1 reference

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A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375.

1 reference

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The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes.

1 reference

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A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis

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Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction

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Elucidating the early stages of keratin filament assembly

1 reference

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Expression of keratin K14 in the epidermis and hair follicle: insights into complex programs of differentiation

1 reference

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21 January 2018

Deletions in epidermal keratins leading to alterations in filament organization in vivo and in intermediate filament assembly in vitro

1 reference

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21 January 2018

A function for keratins and a common thread among different types of epidermolysis bullosa simplex diseases

1 reference

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21 January 2018

Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses

1 reference

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Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex

1 reference

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21 January 2018

Protein complexes of intermediate-sized filaments: melting of cytokeratin complexes in urea reveals different polypeptide separation characteristics.

1 reference

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Intermediate filaments and disease: mutations that cripple cell strength

1 reference

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21 January 2018

Of mice and men: genetic skin diseases of keratin

1 reference

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21 January 2018

Type I and type II keratins have evolved from lower eukaryotes to form the epidermal intermediate filaments in mammalian skin

1 reference

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21 January 2018

Intermediate filaments: structure, dynamics, function, and disease

1 reference

https://api.crossref.org/works/10.1101%2FGAD.8.21.2574

21 January 2018

Transgenic mice expressing a mutant keratin 10 gene reveal the likely genetic basis for epidermolytic hyperkeratosis

1 reference

https://api.crossref.org/works/10.1101%2FGAD.8.21.2574

21 January 2018

The cDNA sequence of a Type II cytoskeletal keratin reveals constant and variable structural domains among keratins

1 reference

https://api.crossref.org/works/10.1101%2FGAD.8.21.2574

21 January 2018

The coiled coil of in vitro assembled keratin filaments is a heterodimer of type I and II keratins: use of site-specific mutagenesis and recombinant protein expression

1 reference

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21 January 2018

Mutations of phosphorylation sites in lamin A that prevent nuclear lamina disassembly in mitosis

1 reference

https://api.crossref.org/works/10.1101%2FGAD.8.21.2574

21 January 2018

A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.

1 reference

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21 January 2018

A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.

1 reference

https://api.crossref.org/works/10.1101%2FGAD.8.21.2574

21 January 2018

Mouse differentiation-specific keratins 1 and 10 require a preexisting keratin scaffold to form a filament network

1 reference

https://api.crossref.org/works/10.1101%2FGAD.8.21.2574

21 January 2018

Cloning of the human keratin 18 gene and its expression in nonepithelial mouse cells

1 reference

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21 January 2018

A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering

1 reference

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21 January 2018

Isolation, sequence, and expression of a human keratin K5 gene: transcriptional regulation of keratins and insights into pairwise control

1 reference

https://api.crossref.org/works/10.1101%2FGAD.8.21.2574

21 January 2018

Do the ends justify the mean? Proline mutations at the ends of the keratin coiled-coil rod segment are more disruptive than internal mutations

1 reference

https://api.crossref.org/works/10.1101%2FGAD.8.21.2574

21 January 2018

Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex

1 reference

https://api.crossref.org/works/10.1101%2FGAD.8.21.2574

21 January 2018

Molecular characterization and expression of the stratification-related cytokeratins 4 and 15

1 reference

https://api.crossref.org/works/10.1101%2FGAD.8.21.2574

21 January 2018

Retrovirus-mediated transgenic keratin expression in cultured fibroblasts: Specific domain functions in keratin stabilization and filament formation

1 reference

https://api.crossref.org/works/10.1101%2FGAD.8.21.2574

21 January 2018

Remarkable conservation of structure among intermediate filament genes

1 reference

https://api.crossref.org/works/10.1101%2FGAD.8.21.2574

21 January 2018

Nuclear and mitochondrial inheritance in yeast depends on novel cytoplasmic structures defined by the MDM1 protein

1 reference

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Sorting out IF networks: consequences of domain swapping on IF recognition and assembly

1 reference

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The catalog of human cytokeratins: patterns of expression in normal epithelia, tumors and cultured cells

1 reference

https://api.crossref.org/works/10.1101%2FGAD.8.21.2574

21 January 2018

The 50- and 58-kdalton keratin classes as molecular markers for stratified squamous epithelia: cell culture studies.

1 reference

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21 January 2018

Assembly of amino-terminally deleted desmin in vimentin-free cells

1 reference

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21 January 2018

Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).

1 reference

https://api.crossref.org/works/10.1101%2FGAD.8.21.2574

21 January 2018

Serial cultivation of strains of human epidermal keratinocytes: the formation of keratinizing colonies from single cells

1 reference

https://api.crossref.org/works/10.1101%2FGAD.8.21.2574

21 January 2018

Regulated expression of differentiation-associated keratins in cultured epidermal cells detected by monospecific antibodies to unique peptides of mouse epidermal keratins

1 reference

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21 January 2018

Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis

1 reference

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21 January 2018

Retinoid-mediated transcriptional regulation of keratin genes in human epidermal and squamous cell carcinoma cells

1 reference

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A Keratin 14 Mutational Hot Spot for Epidermolysis Bullosa Simplex, Dowling-Meara: Implications for Diagnosis

1 reference

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Use of monospecific antisera and cRNA probes to localize the major changes in keratin expression during normal and abnormal epidermal differentiation

1 reference

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Correlation of specific keratins with different types of epithelial differentiation: monoclonal antibody studies.

1 reference

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Evidence for posttranscriptional regulation of the keratins expressed during hyperproliferation and malignant transformation in human epidermis

1 reference

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Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease

1 reference

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1 reference

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Characterization of dominant and recessive assembly-defective mutations in mouse neurofilament NF-M.

1 reference

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1 reference

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Epidermolytic palmoplantar keratoderma cosegregates with a keratin 9 mutation in a pedigree with breast and ovarian cancer

1 reference

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Quantitative and qualitative dynamics of the epidermal and cellular inflammatory reaction in primary toxic and allergic dinitrochlorobenzene contact dermatitis in guinea pigs

1 reference

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Changes in keratin gene expression during terminal differentiation of the keratinocyte

1 reference

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Assembly properties of dominant and recessive mutations in the small mouse neurofilament (NF-L) subunit

1 reference

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Mid-gestational lethality in mice lacking keratin 8

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Ultrastructural identification of basic abnormalities as clues to genetic disorders of the epidermis

5

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10

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Modulation of keratin intermediate filament assembly by single amino acid exchanges in the consensus sequence at the C-terminal end of the rod domain

35

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18 May 2024

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