(Q36809911)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17476820%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

review article

3 references

8 December 2020

6 February 2021

Disorders of keratinisation: from rare to common genetic diseases of skin and other epithelial tissues (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17476820%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

9 references

12 March 2019

13 March 2019

22 April 2019

17 June 2019

11 October 2019

21 October 2019

16 November 2019

11 December 2019

21 December 2019

1 reference

11 October 2019

1 reference

21 October 2019

macromolecular substance

1 reference

16 November 2019

cytoskeletal proteins

1 reference

11 December 2019

1 reference

21 December 2019

1 reference

8 December 2020

1 reference

6 February 2021

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17476820%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

author name string

W H Irwin McLean

series ordinal

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17476820%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

language of work or name

1 reference

1 May 2007

12 references

12 March 2019

13 March 2019

22 April 2019

17 June 2019

11 October 2019

21 October 2019

16 November 2019

11 December 2019

21 December 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17476820%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

8 December 2020

6 February 2021

Ulster Medical Journal

9 references

17 June 2019

11 October 2019

21 October 2019

16 November 2019

11 December 2019

21 December 2019

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17476820%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

8 December 2020

6 February 2021

76

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17476820%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

issue

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17476820%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

page(s)

72-82

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17476820%20AND%20SRC:MED&resulttype=core&format=json

Naegeli-Franceschetti-Jadassohn syndrome and dermatopathia pigmentosa reticularis: two allelic ectodermal dysplasias caused by dominant mutations in KRT14

30 December 2019

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

New consensus nomenclature for mammalian keratins

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

Loss-of-function variations within the filaggrin gene predispose for atopic dermatitis with allergic sensitizations

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

Common loss-of-function variants of the epidermal barrier protein filaggrin are a major predisposing factor for atopic dermatitis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

A mutation in the hair matrix and cuticle keratin KRTHB5 gene causes ectodermal dysplasia of hair and nail type

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

Loss-of-function mutations in the keratin 5 gene lead to Dowling-Degos disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

Loss-of-function mutations in the gene encoding filaggrin cause ichthyosis vulgaris.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

The genetic basis of pachyonychia congenita.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

Clinical and pathological features of pachyonychia congenita

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

Transglutaminases in skin epidermis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

The cornified envelope: a model of cell death in the skin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

Keratins of the human hair follicle

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

A missense mutation in the type II hair keratin hHb3 is associated with monilethrix

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

Intermediate filament proteins and their associated diseases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

Human keratin 8 mutations that disturb filament assembly observed in inflammatory bowel disease patients.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

Moisturization and skin barrier function

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

Atopic dermatitis and the atopic march

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

Dominant and recessive compound heterozygous mutations in epidermolysis bullosa simplex demonstrate the role of the stutter region in keratin intermediate filament assembly

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

Keratin 8 mutations in patients with cryptogenic liver disease

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease).

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

The epidemiology of atopic dermatitis at a tertiary referral skin center in Singapore

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

Mutations in keratin K9 in kindreds with epidermolytic palmoplantar keratoderma and epidemiology in Northern Ireland.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

The genetic basis of epidermolysis bullosa simplex with mottled pigmentation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

Desmosomes and hemidesmosomes: structure and function of molecular components.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

Mutations of keratinocyte transglutaminase in lamellar ichthyosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

Mutations in the gene for transglutaminase 1 in autosomal recessive lamellar ichthyosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

The genetic basis of Weber-Cockayne epidermolysis bullosa simplex

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

Keratin 16 and keratin 17 mutations cause pachyonychia congenita

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

Cloning of a cDNA for steroid sulfatase: frequent occurrence of gene deletions in patients with recessive X chromosome-linked ichthyosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

Primer-directed enzymatic amplification of DNA with a thermostable DNA polymerase

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

Specialized keratin expression pattern in human ridged skin as an adaptation to high physical stress

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

A variable monilethrix phenotype associated with a novel mutation, Glu402Lys, in the helix termination motif of the type II hair keratin hHb1.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

A functional "knockout" of human keratin 14

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

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

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

Filaggrin loss-of-function mutations predispose to phenotypes involved in the atopic march.

27 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

The illnesses of the great and near-great.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

Epidermolysis bullosa simplex in Israel: clinical and genetic features.

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

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

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

The prevalence of accentuated palmoplantar markings and keratosis pilaris in atopic dermatitis, autosomal dominant ichthyosis and control dermatological patients

5 September 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

Null Mutations in the Filaggrin Gene (FLG) Determine Major Susceptibility to Early-Onset Atopic Dermatitis that Persists into Adulthood

20 October 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2001132

Concurrence between the molecular overlap regions in keratin intermediate filaments and the locations of keratin mutations in genodermatoses

4 December 2018

1 reference

12 December 2020

Ichthyosis bullosa of Siemens is caused by mutations in the keratin 2e gene

1 reference

12 December 2020

Breaking the (Un)Sound Barrier: Filaggrin Is a Major Gene for Atopic Dermatitis

1 reference

12 December 2020

Ectodermal dysplasia of hair and nail type: mapping of a novel locus to chromosome 17p12-q21.2.

1 reference

12 December 2020

A Heterozygous Frameshift Mutation in the V1 Domain of Keratin 5 in a Family with Dowling–Degos Disease

1 reference

12 December 2020

Filaggrin mutations strongly predispose to early-onset and extrinsic atopic dermatitis

1 reference

12 December 2020

Clinical Features of Autosomal Dominant and Sex-linked Ichthyosis in an English Population

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:17476820%20AND%20SRC:MED&resulttype=core&format=json

30 December 2019

PubMed publication ID

17476820

1 reference