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Keratin diseases
scientific article published on June 1, 1994
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instance of
scholarly article
1 reference
stated in
Europe PubMed Central
PubMed ID
7522672
retrieved
20 September 2017
review article
1 reference
stated in
Europe PubMed Central
title
Keratin diseases
(English)
1 reference
stated in
Europe PubMed Central
PubMed ID
7522672
retrieved
20 September 2017
author name string
E. B. Lane
series ordinal
1
1 reference
stated in
Europe PubMed Central
PubMed ID
7522672
reference URL
https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7522672
retrieved
15 May 2024
language of work or name
English
1 reference
stated in
National Center for Biotechnology Information
PubMed ID
7522672
reference URL
https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=7522672
retrieved
15 May 2024
publication date
1 June 1994
1 reference
stated in
Europe PubMed Central
PubMed ID
7522672
retrieved
20 September 2017
full work available at URL
https://api.elsevier.com/content/article/PII:0959437X94900302?httpAccept=text/xml
1 reference
stated in
Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
retrieved
15 May 2024
https://api.elsevier.com/content/article/PII:0959437X94900302?httpAccept=text/plain
1 reference
stated in
Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
retrieved
15 May 2024
published in
Current Opinion in Genetics & Development
1 reference
stated in
Europe PubMed Central
PubMed ID
7522672
retrieved
20 September 2017
volume
4
1 reference
stated in
Europe PubMed Central
PubMed ID
7522672
retrieved
20 September 2017
issue
3
1 reference
stated in
Europe PubMed Central
PubMed ID
7522672
retrieved
20 September 2017
page(s)
412-418
1 reference
stated in
Europe PubMed Central
PubMed ID
7522672
retrieved
20 September 2017
cites work
The expression of mutant epidermal keratin cDNAs transfected in simple epithelial and squamous cell carcinoma lines
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1
1 reference
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Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
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15 May 2024
Expression of mutant keratin cDNAs in epithelial cells reveals possible mechanisms for initiation and assembly of intermediate filaments
series ordinal
2
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Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
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15 May 2024
Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease
series ordinal
3
1 reference
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Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
retrieved
15 May 2024
Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses
series ordinal
4
1 reference
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Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
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15 May 2024
Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene Abnormalities
series ordinal
5
1 reference
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Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
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15 May 2024
Epidermolysis Bullosa Simplex (Dowling-Meara Type) Is a Genetic Disease Characterized by an Abnormal Keratin-Filament Network Involving Keratins K5 and K14
series ordinal
6
1 reference
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Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
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15 May 2024
A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering
series ordinal
7
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Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
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15 May 2024
A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex.
series ordinal
8
1 reference
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Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
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15 May 2024
Autosomal recessive epidermolysis bullosa simplex. A case report
series ordinal
9
1 reference
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Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
retrieved
15 May 2024
The Two Size Alleles of Human Keratin 1 Are Due to a Deletion in the Glycine-Rich Carboxyl-Terminal V2 Subdomain
series ordinal
10
1 reference
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Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
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15 May 2024
The genetic basis of epidermolytic hyperkeratosis: a disorder of differentiation-specific epidermal keratin genes.
series ordinal
11
1 reference
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Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
retrieved
15 May 2024
Allelic variations of human keratins K4 and K5 provide polymorphic markers within the type II keratin gene cluster on chromosome 12
series ordinal
12
1 reference
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Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
retrieved
15 May 2024
Molecular characterization of the body site-specific human epidermal cytokeratin 9: cDNA cloning, amino acid sequence, and tissue specificity of gene expression
series ordinal
14
1 reference
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DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
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15 May 2024
Characterization of human cytokeratin 2, an epidermal cytoskeletal protein synthesized late during differentiation
series ordinal
15
1 reference
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Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
retrieved
15 May 2024
Ichthyosis bullosa of Siemens--a disease involving keratin 2e
series ordinal
16
1 reference
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Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
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15 May 2024
Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function
series ordinal
17
1 reference
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Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
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15 May 2024
The genetic basis of Weber-Cockayne epidermolysis bullosa simplex
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20
1 reference
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Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
retrieved
15 May 2024
Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).
series ordinal
21
1 reference
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Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
retrieved
15 May 2024
A keratin 14 mutational hot spot for epidermolysis bullosa simplex, Dowling-Meara: implications for diagnosis
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22
1 reference
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Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
retrieved
15 May 2024
A mutation (Met-->Arg) in the type I keratin (K14) gene responsible for autosomal dominant epidermolysis bullosa simplex.
series ordinal
24
1 reference
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Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
retrieved
15 May 2024
A novel three-nucleotide deletion in the helix 2B region of keratin 14 in epidermolysis bullosa simplex: delta E375.
series ordinal
26
1 reference
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Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
retrieved
15 May 2024
Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex
series ordinal
27
1 reference
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Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
retrieved
15 May 2024
Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis
series ordinal
28
1 reference
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Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
retrieved
15 May 2024
Mutations in the rod domains of keratins 1 and 10 in epidermolytic hyperkeratosis
series ordinal
29
1 reference
stated in
Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
retrieved
15 May 2024
Modulation of keratin intermediate filament assembly by single amino acid exchanges in the consensus sequence at the C-terminal end of the rod domain
series ordinal
30
1 reference
stated in
Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
retrieved
15 May 2024
Peptides from the Conserved Ends of the Rod Domain of Desmin Disassemble Intermediate Filaments and Reveal Unexpected Structural Features: A Circular Dichroism, Fourier Transform Infrared, and Electron Microscopic Study
series ordinal
31
1 reference
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Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
retrieved
15 May 2024
Inactivation of human keratin genes: the spectrum of mutations in the sequence of an acidic keratin pseudogene
series ordinal
32
1 reference
stated in
Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
retrieved
15 May 2024
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
series ordinal
33
1 reference
stated in
Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
retrieved
15 May 2024
Retrovirus-mediated transgenic keratin expression in cultured fibroblasts: Specific domain functions in keratin stabilization and filament formation
series ordinal
35
1 reference
stated in
Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
retrieved
15 May 2024
Molecular interactions in paracrystals of a fragment corresponding to the alpha-helical coiled-coil rod portion of glial fibrillary acidic protein: evidence for an antiparallel packing of molecules and polymorphism related to intermediate filament s
series ordinal
36
1 reference
stated in
Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
retrieved
15 May 2024
Chemical cross-linking indicates a staggered and antiparallel protofilament of desmin intermediate filaments and characterizes one higher-level complex between protofilaments
series ordinal
37
1 reference
stated in
Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
retrieved
15 May 2024
Keratin intermediate filament structure. Crosslinking studies yield quantitative information on molecular dimensions and mechanism of assembly
series ordinal
38
1 reference
stated in
Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
retrieved
15 May 2024
Involvement of the n-terminal polypeptide of vimentin in the formation of intermediate filaments
series ordinal
39
1 reference
stated in
Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
retrieved
15 May 2024
Intermediate filament forming ability of desmin derivatives lacking either the amino-terminal 67 or the carboxy-terminal 27 residues
series ordinal
40
1 reference
stated in
Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
retrieved
15 May 2024
The roles of the rod end and the tail in vimentin IF assembly and IF network formation
series ordinal
41
1 reference
stated in
Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
retrieved
15 May 2024
A leucine----proline mutation in the H1 subdomain of keratin 1 causes epidermolytic hyperkeratosis
series ordinal
42
1 reference
stated in
Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
retrieved
15 May 2024
Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis
series ordinal
43
1 reference
stated in
Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
retrieved
15 May 2024
Concerted gene duplications in the two keratin gene families.
series ordinal
44
1 reference
stated in
Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
retrieved
15 May 2024
A group of type I keratin genes on human chromosome 17: characterization and expression
series ordinal
45
1 reference
stated in
Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
retrieved
15 May 2024
Keratin 9 gene mutations in epidermolytic palmoplantar keratoderma (EPPK).
series ordinal
46
1 reference
stated in
Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
retrieved
15 May 2024
A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis
series ordinal
47
1 reference
stated in
Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
retrieved
15 May 2024
Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing
series ordinal
48
1 reference
stated in
Crossref
DOI
10.1016/0959-437X(94)90030-2
reference URL
https://api.crossref.org/works/10.1016/0959-437X(94)90030-2
retrieved
15 May 2024
Identifiers
DOI
10.1016/0959-437X(94)90030-2
1 reference
stated in
Europe PubMed Central
PubMed ID
7522672
retrieved
20 September 2017
PubMed ID
7522672
1 reference
stated in
Europe PubMed Central
PubMed ID
7522672
retrieved
20 September 2017
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