Disorders of keratinisation: from rare to common genetic diseases of skin and other epithelial tissues. (Q36809911)

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30 December 2019

review article

2 references

6 February 2021

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

1 reference

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author name string

W H Irwin McLean

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1

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1 May 2007

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Ulster Medical Journal

9 references

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11 October 2019

21 October 2019

16 November 2019

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

30 December 2019

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

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

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

29 September 2017

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

29 September 2017

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

29 September 2017

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

29 September 2017

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The genetic basis of pachyonychia congenita.

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Clinical and pathological features of pachyonychia congenita

29 September 2017

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Transglutaminases in skin epidermis

29 September 2017

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

29 September 2017

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Keratins of the human hair follicle

29 September 2017

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

29 September 2017

1 reference

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Intermediate filament proteins and their associated diseases

29 September 2017

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

29 September 2017

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Moisturization and skin barrier function

29 September 2017

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Atopic dermatitis and the atopic march

29 September 2017

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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

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Keratin 8 mutations in patients with cryptogenic liver disease

29 September 2017

1 reference

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

29 September 2017

1 reference

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

29 September 2017

1 reference

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

29 September 2017

1 reference

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

29 September 2017

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Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma

29 September 2017

1 reference

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

29 September 2017

1 reference

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

29 September 2017

1 reference

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

29 September 2017

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

29 September 2017

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

29 September 2017

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

29 September 2017

1 reference

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The genetic basis of epidermolysis bullosa simplex with mottled pigmentation

29 September 2017

1 reference

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

29 September 2017

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Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

29 September 2017

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Desmosomes and hemidesmosomes: structure and function of molecular components.

29 September 2017

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Mutations of keratinocyte transglutaminase in lamellar ichthyosis

29 September 2017

1 reference

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

29 September 2017

1 reference

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The genetic basis of Weber-Cockayne epidermolysis bullosa simplex

29 September 2017

1 reference

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

29 September 2017

1 reference

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Keratin 16 and keratin 17 mutations cause pachyonychia congenita

29 September 2017

1 reference

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

29 September 2017

1 reference

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

29 September 2017

1 reference

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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

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

29 September 2017

1 reference

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

29 September 2017

1 reference

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

29 September 2017

1 reference

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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

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

29 September 2017

1 reference

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

29 September 2017

1 reference

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

29 September 2017

1 reference

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

29 September 2017

1 reference

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

29 September 2017

1 reference

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

29 September 2017

1 reference

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

29 September 2017

1 reference

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

29 September 2017

1 reference

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

29 September 2017

1 reference

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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

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A functional "knockout" of human keratin 14

27 June 2018

1 reference

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

27 June 2018

1 reference

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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

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

27 June 2018

1 reference

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

27 June 2018

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

27 June 2018

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The illnesses of the great and near-great.

5 September 2018

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Epidermolysis bullosa simplex in Israel: clinical and genetic features.

5 September 2018

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

5 September 2018

1 reference

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

5 September 2018

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

20 October 2018

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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

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12 December 2020

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

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12 December 2020

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

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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