Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation (Q33650116)

28 July 2017

1 reference

title

Human keratin diseases: the increasing spectrum of disease and subtlety of the phenotype-genotype correlation (English)

1 reference

28 July 2017

1 reference

Irvine AD

1

1 reference

PubMed ID

10354017

28 July 2017

McLean WH

series ordinal

2

1 reference

PubMed ID

10354017

28 July 2017

language of work or name

English

0 references

publication date

1 May 1999

1 reference

British Journal of Dermatology

28 July 2017

1 reference

28 July 2017

140

1 reference

28 July 2017

5

1 reference

28 July 2017

815-828

1 reference

Intermediate filaments: conformity and diversity of expression and structure

28 July 2017

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

The coiled-coil molecules of intermediate filaments consist of two parallel chains in exact axial register

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

Antiparallel orientation of the two double-stranded coiled-coils in the tetrameric protofilament unit of intermediate filaments

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

The structure of intermediate filaments

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

Structure, function, and dynamics of keratin intermediate filaments

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

Human gene mutations affecting RNA processing and translation

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

Cloning and characterization of multiple human genes and cDNAs encoding highly related type II keratin 6 isoforms

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

Effects of keratin 14 ablation on the clinical and cellular phenotype in a kindred with recessive epidermolysis bullosa simplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

Intermediate filaments in disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

Epidermolysis bullosa resembling juvenile dermatitis herpetiformis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

Epidermolysis bullosa simplex (Dowling-Meara). A clinicopathological review

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

The genetic basis of Weber-Cockayne epidermolysis bullosa simplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

A functional "knockout" of human keratin 14

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

The basal keratin network of stratified squamous epithelia: defining K15 function in the absence of K14.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

Epidermolysis bullosa simplex with mottled pigmentation

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

The genetic basis of epidermolysis bullosa simplex with mottled pigmentation

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

A mutation in the V1 domain of keratin 5 causes epidermolysis bullosa simplex with mottled pigmentation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

Human keratin diseases: hereditary fragility of specific epithelial tissues

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

A mutation in the V1 end domain of keratin 1 in non-epidermolytic palmar-plantar keratoderma

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

The proteins elafin, filaggrin, keratin intermediate filaments, loricrin, and small proline-rich proteins 1 and 2 are isodipeptide cross-linked components of the human epidermal cornified cell envelope

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

Making a connection: direct binding between keratin intermediate filaments and desmosomal proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

Mutations in the rod domain of keratin 2e in patients with ichthyosis bullosa of Siemens

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

Mapping of a gene for epidermolytic palmoplantar keratoderma to the region of the acidic keratin gene cluster at 17q12-q21.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

A gene for pachyonychia congenita is closely linked to the keratin gene cluster on 17q12-q21

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

Mutation of a type II keratin gene (K6a) in pachyonychia congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

Missense mutations in keratin 17 cause either pachyonychia congenita type 2 or a phenotype resembling steatocystoma multiplex

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

A mutation in human keratin K6b produces a phenocopy of the K17 disorder pachyonychia congenita type 2

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

Novel mutations in keratin 16 gene underly focal non-epidermolytic palmoplantar keratoderma (NEPPK) in two families

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

Keratin 17 mutations cause either steatocystoma multiplex or pachyonychia congenita type 2.

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

Mutations in the hair cortex keratin hHb6 cause the inherited hair disease monilethrix

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

A new mutation in the type II hair cortex keratin hHb1 involved in the inherited hair disorder monilethrix

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

A mutation in the mucosal keratin K4 is associated with oral white sponge nevus

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

Keratin 13 point mutation underlies the hereditary mucosal epithelial disorder white sponge nevus

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

Mutations in cornea-specific keratin K3 or K12 genes cause Meesmann's corneal dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

Isolation and chromosomal localization of a cornea-specific human keratin 12 gene and detection of four mutations in Meesmann corneal epithelial dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

Mutation of human keratin 18 in association with cryptogenic cirrhosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

Colorectal hyperplasia and inflammation in keratin 8-deficient FVB/N mice

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

Frontiers in keratodermas: pushing the envelope

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

Plectin and human genetic disorders of the skin and muscle. The paradigm of epidermolysis bullosa with muscular dystrophy

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

Phosphorylation of human keratin 18 serine 33 regulates binding to 14-3-3 proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

A gene for monilethrix is closely linked to the type II keratin gene cluster at 12q13

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

Heterotypic tetramer (A2D2) complexes of non-epidermal keratins isolated from cytoskeletons of rat hepatocytes and hepatoma cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1046%2FJ.1365-2133.1999.02810.X

10.1046/J.1365-2133.1999.02810.X

21 January 2018

Identifiers

DOI

1 reference

28 July 2017

1 reference

PubMed ID

10354017