(Q40392882)

20 September 2017

1 reference

title

Keratin diseases (English)

1 reference

20 September 2017

E. B. Lane

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?resulttype=core&format=json&query=SRC%3AMED%20AND%20EXT_ID%3A7522672

15 May 2024

language of work or name

English

1 reference

National Center for Biotechnology Information

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/esummary.fcgi?db=pubmed&retmode=json&id=7522672

15 May 2024

publication date

1 June 1994

1 reference

full work available at URL

20 September 2017

https://api.elsevier.com/content/article/PII:0959437X94900302?httpAccept=text/xml

1 reference

Crossref

DOI

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

https://api.elsevier.com/content/article/PII:0959437X94900302?httpAccept=text/plain

15 May 2024

1 reference

Crossref

DOI

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

Current Opinion in Genetics & Development

15 May 2024

published in

1 reference

20 September 2017

1 reference

20 September 2017

1 reference

20 September 2017

page(s)

412-418

1 reference

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

20 September 2017

cites work

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

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

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

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

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

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

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

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

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

Epidermolysis Bullosa Simplex (Dowling-Meara Type) Is a Genetic Disease Characterized by an Abnormal Keratin-Filament Network Involving Keratins K5 and K14

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

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

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

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

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

Autosomal recessive epidermolysis bullosa simplex. A case report

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

The Two Size Alleles of Human Keratin 1 Are Due to a Deletion in the Glycine-Rich Carboxyl-Terminal V2 Subdomain

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

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

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

Allelic Variations of Human Keratins K4 and K5 Provide Polymorphic Markers Within the Type II Keratin Gene Cluster on Chromosome 12

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

Molecular characterization of the body site-specific human epidermal cytokeratin 9: cDNA cloning, amino acid sequence, and tissue specificity of gene expression

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

Characterization of human cytokeratin 2, an epidermal cytoskeletal protein synthesized late during differentiation

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

Ichthyosis bullosa of Siemens--a disease involving keratin 2e

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

Missing links: Weber-Cockayne keratin mutations implicate the L12 linker domain in effective cytoskeleton function

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

The genetic basis of Weber-Cockayne epidermolysis bullosa simplex

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

Mutations in the rod 1A domain of keratins 1 and 10 in bullous congenital ichthyosiform erythroderma (BCIE).

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

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

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

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

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

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

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

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

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

Preferential sites in keratin 10 that are mutated in epidermolytic hyperkeratosis

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

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

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

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

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

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

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

Inactivation of human keratin genes: the spectrum of mutations in the sequence of an acidic keratin pseudogene

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

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

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

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

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

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

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

Chemical cross-linking indicates a staggered and antiparallel protofilament of desmin intermediate filaments and characterizes one higher-level complex between protofilaments

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

Keratin intermediate filament structure. Crosslinking studies yield quantitative information on molecular dimensions and mechanism of assembly

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

Involvement of the n-terminal polypeptide of vimentin in the formation of intermediate filaments

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

Intermediate filament forming ability of desmin derivatives lacking either the amino-terminal 67 or the carboxy-terminal 27 residues

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

The roles of the rod end and the tail in vimentin IF assembly and IF network formation

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

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

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

Mutations in the H1 and 1A domains in the keratin 1 gene in epidermolytic hyperkeratosis

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

Concerted gene duplications in the two keratin gene families.

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

A group of type I keratin genes on human chromosome 17: characterization and expression

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

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

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

A mutational hot spot in keratin 10 (KRT 10) in patients with epidermolytic hyperkeratosis

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing

15 May 2024

1 reference

https://api.crossref.org/works/10.1016/0959-437X(94)90030-2

15 May 2024

Identifiers

DOI

1 reference

20 September 2017

1 reference