(Q39639706)

English

Immortalized keratinocytes derived from patients with epidermolytic ichthyosis reproduce the disease phenotype: a useful in vitro model for testing new treatments

scientific article published on February 2011

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scholarly article

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Europe PubMed Central

PubMed publication ID

13 September 2017

Immortalized keratinocytes derived from patients with epidermolytic ichthyosis reproduce the disease phenotype: a useful in vitro model for testing new treatments (English)

1 reference

Europe PubMed Central

PubMed publication ID

13 September 2017

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based on heuristic

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based on heuristic

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H Törmä

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Europe PubMed Central

PubMed publication ID

13 September 2017

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J C Chamcheu

1

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Europe PubMed Central

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13 September 2017

I Pihl-Lundin

2

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Europe PubMed Central

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13 September 2017

C E Mouyobo

3

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Europe PubMed Central

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13 September 2017

T Gester

4

1 reference

Europe PubMed Central

PubMed publication ID

13 September 2017

M Virtanen

5

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Europe PubMed Central

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13 September 2017

A Moustakas

6

1 reference

Europe PubMed Central

PubMed publication ID

13 September 2017

H Navsaria

7

1 reference

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13 September 2017

A Vahlquist

8

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13 September 2017

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publication date

1 February 2011

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Europe PubMed Central

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13 September 2017

British Journal of Dermatology

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Europe PubMed Central

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13 September 2017

164

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13 September 2017

2

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263-272

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13 September 2017

Revised nomenclature and classification of inherited ichthyoses: results of the First Ichthyosis Consensus Conference in Sorèze 2009.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Recessive epidermolytic hyperkeratosis caused by a previously unreported termination codon mutation in the keratin 10 gene

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Ichthyosis: etiology, diagnosis, and management

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Prenatal diagnosis of epidermolytic hyperkeratosis by direct gene sequencing

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Phenotypes, genotypes and their contribution to understanding keratin function

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Histopathologic characterization of epidermolytic hyperkeratosis: a systematic review of histology from the National Registry for Ichthyosis and Related Skin Disorders

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Diseases of epidermal keratins and their linker proteins

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Phenotypic/genotypic correlations in patients with epidermolytic hyperkeratosis and the effects of retinoid therapy on keratin expression

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Bullous congenital ichthyosiform erythroderma: safe and effective topical treatment with calcipotriol ointment in a child

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Abnormal keratin 1 and 10 cytoskeleton in cultured keratinocytes from epidermolytic hyperkeratosis caused by keratin 10 mutations

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Epidermolysis bullosa simplex due to KRT5 mutations: mutation-related differences in cellular fragility and the protective effects of trimethylamine N-oxide in cultured primary keratinocytes

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Characterization of an immortalized cell line from a patient with epidermolytic hyperkeratosis

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Characterization of immortalized human epidermolysis bullosa simplex (KRT5) cell lines: trimethylamine N-oxide protects the keratin cytoskeleton against disruptive stress condition

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Increased thermal stability of collagen in the presence of sugars and polyols

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Reprogramming of keratin biosynthesis by sulforaphane restores skin integrity in epidermolysis bullosa simplex

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Folding mechanism of the (H3-H4)2 histone tetramer of the core nucleosome

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Neuroprotective effects of phenylbutyrate in the N171-82Q transgenic mouse model of Huntington's disease

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

The H2A.Z/H2B dimer is unstable compared to the dimer containing the major H2A isoform

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Trimethylamine oxide suppresses stress-induced alteration of organic anion transport in choroid plexus

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Modulation of epithelial sodium channel trafficking and function by sodium 4-phenylbutyrate in human nasal epithelial cells

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

The ubiquitin ligase CHIP/STUB1 targets mutant keratins for degradation.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Variations in the mRNA expression of inflammatory mediators, markers of differentiation and lipid-metabolizing enzymes caused by sodium lauryl sulphate in cultured human keratinocytes

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Simple allele-discriminating PCR for cost-effective and rapid genotyping and mapping

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Both all-trans retinoic acid and cytochrome P450 (CYP26) inhibitors affect the expression of vitamin A metabolizing enzymes and retinoid biomarkers in organotypic epidermis

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Modelling the human epidermis in vitro: tools for basic and applied research

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Direct observation of individual endogenous protein complexes in situ by proximity ligation

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Injection of genetically engineered fibroblasts corrects regenerated human epidermolysis bullosa skin tissue

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Sustainable correction of junctional epidermolysis bullosa via transposon-mediated nonviral gene transfer

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Epidermolysis bullosa simplex keratinocytes with extended lifespan established by ectopic expression of telomerase

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Generation and characterization of epidermolysis bullosa simplex cell lines: scratch assays show faster migration with disruptive keratin mutations.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

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

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Abnormal organization of keratin intermediate filaments in cultured keratinocytes of epidermolysis bullosa simplex

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Mutation analysis of the entire keratin 5 and 14 genes in patients with epidermolysis bullosa simplex and identification of novel mutations

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Novel and recurrent mutations in keratin KRT5 and KRT14 genes in epidermolysis bullosa simplex: implications for disease phenotype and keratin filament assembly.

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Chemical chaperones mediate increased secretion of mutant alpha 1-antitrypsin (alpha 1-AT) Z: A potential pharmacological strategy for prevention of liver injury and emphysema in alpha 1-AT deficiency

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Evidence of CFTR function in cystic fibrosis after systemic administration of 4-phenylbutyrate

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Chemical chaperones: a pharmacological strategy for disorders of protein folding and trafficking

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Long-term treatment of girls with ornithine transcarbamylase deficiency

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Phenylbutyrate up-regulates the adrenoleukodystrophy-related gene as a nonclassical peroxisome proliferator

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Phenylbutyrate increases SMN expression in vitro: relevance for treatment of spinal muscular atrophy

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Lethal autosomal recessive epidermolytic ichthyosis due to a novel donor splice-site mutation in KRT10

1 reference

https://api.crossref.org/works/10.1111%2FJ.1365-2133.2010.10092.X

21 January 2018

Identifiers

10.1111/J.1365-2133.2010.10092.X

1 reference

Europe PubMed Central

PubMed publication ID

13 September 2017

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

13 September 2017

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