(Q35923500)

11 August 2017

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title

Keratins and skin disorders (English)

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11 August 2017

Lane EB

1

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PubMed ID

15495218

11 August 2017

McLean WH

series ordinal

2

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11 August 2017

1 November 2004

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11 August 2017

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11 August 2017

204

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11 August 2017

355-366

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11 August 2017

4

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

11 August 2017

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Phenotypes, genotypes and their contribution to understanding keratin function

21 January 2018

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An unusual Ala12Thr polymorphism in the 1A alpha-helical segment of the companion layer-specific keratin K6hf: evidence for a risk factor in the etiology of the common hair disorder pseudofolliculitis barbae

21 January 2018

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The Ehlers-Danlos syndrome: on beyond collagens

21 January 2018

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Molecular basis of muscular dystrophies.

21 January 2018

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Intermediate filaments: structural conservation and divergence

21 January 2018

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Intermediate filaments in disease

21 January 2018

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21 January 2018

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

21 January 2018

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

21 January 2018

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Comprehensive analysis of keratin gene clusters in humans and rodents

21 January 2018

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Use of monoclonal antibodies for the histopathological diagnosis of human malignancy

21 January 2018

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Immunohistological diagnosis of central nervous system tumours using a monoclonal antibody panel

21 January 2018

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Differentiation of the major human tumor groups using conventional and monoclonal antibodies specific for individual intermediate filament proteins

21 January 2018

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

21 January 2018

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Keratin mutations and intestinal pathology

21 January 2018

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K15 expression implies lateral differentiation within stratified epithelial basal cells

21 January 2018

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Keratin 15 expression in stratified epithelia: downregulation in activated keratinocytes

21 January 2018

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Expression of simple epithelial type cytokeratins in stratified epithelia as detected by immunolocalization and hybridization in situ

21 January 2018

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

21 January 2018

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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

21 January 2018

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Disease severity correlates with position of keratin point mutations in patients with epidermolysis bullosa simplex

21 January 2018

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Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma

21 January 2018

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

21 January 2018

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Plectin deficiency results in muscular dystrophy with epidermolysis bullosa

21 January 2018

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Modulation of cell proliferation by cytokeratins K10 and K16

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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Assembly dynamics of epidermal keratins K1 and K10 in transfected cells

21 January 2018

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Mouse differentiation-specific keratins 1 and 10 require a preexisting keratin scaffold to form a filament network

21 January 2018

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

21 January 2018

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

21 January 2018

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Genomic organization and fine mapping of the keratin 2e gene (KRT2E): K2e V1 domain polymorphism and novel mutations in ichthyosis bullosa of Siemens

21 January 2018

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Distribution of a special subset of keratinocytes characterized by the expression of cytokeratin 9 in adult and fetal human epidermis of various body sites

21 January 2018

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

21 January 2018

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

21 January 2018

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Keratin expression in the normal nail unit: markers of regional differentiation.

21 January 2018

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Keratin 16 and keratin 17 mutations cause pachyonychia congenita

21 January 2018

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Novel and recurrent mutations in the genes encoding keratins K6a, K16 and K17 in 13 cases of pachyonychia congenita.

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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

21 January 2018

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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

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Molecular genetics of Meesmann's corneal dystrophy: ancestral and novel mutations in keratin 12 (K12) and complete sequence of the human KRT12 gene.

21 January 2018

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

21 January 2018

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Identification of two novel mutations in keratin 13 as the cause of white sponge naevus.

21 January 2018

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

21 January 2018

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The catalog of human hair keratins. II. Expression of the six type II members in the hair follicle and the combined catalog of human type I and II keratins

21 January 2018

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The catalog of human hair keratins. I. Expression of the nine type I members in the hair follicle

21 January 2018

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Monilethrix: a novel mutation (Glu402Lys) in the helix termination motif and the first causative mutation (Asn114Asp) in the helix initiation motif of the type II hair keratin hHb6.

21 January 2018

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

21 January 2018

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Cytokeratin 20 is a general marker of cutaneous Merkel cells while certain neuronal proteins are absent

21 January 2018

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The genetic basis of Weber-Cockayne epidermolysis bullosa simplex

21 January 2018

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

21 January 2018

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

21 January 2018

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The genetic basis of epidermolysis bullosa simplex with mottled pigmentation

21 January 2018

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Novel splice site mutation in keratin 1 underlies mild epidermolytic palmoplantar keratoderma in three kindreds

21 January 2018

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Frameshift mutation in the V2 domain of human keratin 1 results in striate palmoplantar keratoderma

21 January 2018

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Evidence for novel functions of the keratin tail emerging from a mutation causing ichthyosis hystrix

21 January 2018

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Cyclic ichthyosis with epidermolytic hyperkeratosis: A phenotype conferred by mutations in the 2B domain of keratin K1

21 January 2018

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Atypical epidermolytic palmoplantar keratoderma presentation associated with a mutation in the keratin 1 gene.

21 January 2018

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Pachyonychia congenita tarda. A late-onset form of pachyonychia congenita

21 January 2018

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Delayed-onset pachyonychia congenita associated with a novel mutation in the central 2B domain of keratin 16.

21 January 2018

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A novel mutation in the second half of the keratin 17 1A domain in a large pedigree with delayed-onset pachyonychia congenita type 2.

21 January 2018

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

21 January 2018

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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

21 January 2018

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

21 January 2018

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A site-specific plectin mutation causes dominant epidermolysis bullosa simplex Ogna: two identical de novo mutations

21 January 2018

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

21 January 2018

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

21 January 2018

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An Atypical Form of Bullous Congenital Ichthyosiform Erythroderma is Caused by a Mutation in the L12 Linker Region of Keratin 1

21 January 2018

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Two Cases of Primarily Palmoplantar Keratoderma Associated with Novel Mutations in Keratin 1

21 January 2018

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A novel mutation in the helix termination motif of keratin K12 in a US family with Meesmann corneal dystrophy

21 January 2018

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21 January 2018

Identifiers

DOI

10.1002/PATH.1643

1 reference

11 August 2017

1 reference

PubMed ID

15495218