Progress towards genetic and pharmacological therapies for keratin genodermatoses: current perspective and future promise (Q28393706)

1

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Gary S Wood

2

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Imtiaz A Siddiqui

3

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Deeba N Syed

4

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Vaqar M Adhami

5

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Joyce M Teng

6

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Hasan Mukhtar

Applications of Nanotechnology in Dermatology

7

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language of work or name

English

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publication date

July 2012

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published in

Experimental Dermatology

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volume

21

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issue

7

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page(s)

481-9

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cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Toxicology of Nanomaterials Used in Nanomedicine

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

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

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Effects of glucosinolate-rich broccoli sprouts on urinary levels of aflatoxin-DNA adducts and phenanthrene tetraols in a randomized clinical trial in He Zuo township, Qidong, People's Republic of China

20 March 2017

2 references

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

20 March 2017

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

A strategy for cancer prevention: stimulation of the Nrf2-ARE signaling pathway

6 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Keratin 20 helps maintain intermediate filament organization in intestinal epithelia

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Induction of fetal hemoglobin production in subjects with sickle cell anemia by oral sodium phenylbutyrate

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

A major inducer of anticarcinogenic protective enzymes from broccoli: isolation and elucidation of structure

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Revertant mosaicism in skin: natural gene therapy

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Impairment of the ubiquitin-proteasome system by protein aggregation

20 March 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

The Hsc70 co-chaperone CHIP targets immature CFTR for proteasomal degradation

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Serial cultivation of strains of human epidermal keratinocytes: the formation of keratinizing colonies from single cells

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Nonsense-mediated mRNA decay in health and disease

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Toxicity testing of nanomaterials

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Nanoparticles: a review of particle toxicology following inhalation exposure

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Nanotoxicology and in vitro studies: the need of the hour

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Gene expression analysis of an epidermolysis bullosa simplex Dowling‐Meara cell line by subtractive hybridization: recapitulation of cellular differentiation, migration and wound healing

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Novel molecular therapies for heritable skin disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Regulation of keratin expression by retinoids.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Generation of keratinocytes from normal and recessive dystrophic epidermolysis bullosa-induced pluripotent stem cells.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Chemical chaperones protect epidermolysis bullosa simplex keratinocytes from heat stress-induced keratin aggregation: involvement of heat shock proteins and MAP kinases

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

The phenotypic and molecular genetic 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=3556927

Statins Downregulate K6a Promoter Activity: A Possible Therapeutic Avenue for 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=3556927

Skin absorption and potential toxicity of nanoparticulate nanomaterials

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Use of self-delivery siRNAs to inhibit gene expression in an organotypic pachyonychia congenita model

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Keratin gene mutations in disorders of human skin and its appendages

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Development of a bioengineered skin-humanized mouse model for psoriasis: dissecting epidermal-lymphocyte interacting pathways

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Differential Modulation of Keratin Expression by Sulforaphane Occurs via Nrf2-dependent and -independent Pathways in Skin Epithelia

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

K14 mRNA reprogramming for dominant 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=3556927

Mitotic recombination in patients with ichthyosis causes reversion of dominant mutations in KRT10

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Small amounts of zinc from zinc oxide particles in sunscreens applied outdoors are absorbed through human 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=3556927

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Trimethylamine N-oxide alleviates the severe aggregation and ER stress caused by G98R alphaA-crystallin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

First-in-human mutation-targeted siRNA phase Ib trial of an inherited skin disorder.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Cytokeratins 16 and 10 bind to retinoic acid covalently in skin tissue of mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

ERK involvement in resistance to apoptosis in keratinocytes with mutant keratin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Rapamycin selectively inhibits expression of an inducible keratin (K6a) in human keratinocytes and improves symptoms in pachyonychia congenita 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=3556927

Severe keratin 5 and 14 mutations induce down-regulation of junction proteins in keratinocytes

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Epidermolysis bullosa simplex: a paradigm for disorders of tissue fragility

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

siRNA silencing of keratinocyte-specific GFP expression in a transgenic mouse skin model.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

A dominant vimentin mutant upregulates Hsp70 and the activity of the ubiquitin-proteasome system, and causes posterior cataracts in transgenic mice

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

A systematic review of randomized controlled trials of treatments for inherited forms of 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=3556927

Genetically engineered mouse models for skin research: taking the next step

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Therapeutic siRNAs for dominant genetic skin disorders including 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=3556927

Dual-specificity phosphatases in the hypo-osmotic stress response of keratin-defective epithelial cell lines

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

SMaRT technology enables gene expression repair in skin gene therapy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

The Human Intermediate Filament Database: comprehensive information on a gene family involved in many human 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=3556927

5' trans-splicing repair of the PLEC1 gene

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Retinoic acid metabolism blocking agents (RAMBAs): a new paradigm in the treatment of hyperkeratotic disorders

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Single-nucleotide-specific siRNA targeting in a dominant-negative skin model

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Development of therapeutic siRNAs for 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=3556927

Modeling normal and pathological processes through skin tissue engineering

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

p38 MAPK-dependent shaping of the keratin cytoskeleton in cultured cells.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Diseases of epidermal keratins and their linker proteins

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

SiRNA-mediated selective inhibition of mutant keratin mRNAs responsible for the skin disorder 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=3556927

Treatment of pachyonychia congenita with plantar injections of botulinum toxin

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Gene therapy for autosomal dominant disorders of keratin.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Animal models of epidermolysis bullosa--targets for gene therapy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Modulation of neurodegeneration by molecular chaperones

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Recognition, diagnosis, and treatment of primary focal hyperhidrosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Novel mechanism of revertant mosaicism in Dowling-Meara 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=3556927

Bcl-2 overexpression corrects mitochondrial defects and ameliorates inherited desmin null cardiomyopathy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Epidermolysis bullosa simplex-type mutations alter the dynamics of the keratin cytoskeleton and reveal a contribution of actin to the transport of keratin subunits.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Gene expression profile analysis of 4-phenylbutyrate treatment of IB3-1 bronchial epithelial cell line demonstrates a major influence on heat-shock proteins

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Development of spliceosome-mediated RNA trans-splicing (SMaRT) for the correction of inherited skin 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=3556927

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Keratin mutations of epidermolysis bullosa simplex alter the kinetics of stress response to osmotic shock

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Cutaneous gene transfer for skin and systemic 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=3556927

Disease model: heritable 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=3556927

Discovery of a novel murine keratin 6 (K6) isoform explains the absence of hair and nail defects in mice deficient for K6a and K6b.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Sodium 4-phenylbutyrate downregulates HSC70 expression by facilitating mRNA degradation

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

An inducible mouse model for epidermolysis bullosa simplex: implications for gene therapy

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Supplementation of a mutant keratin by stable expression of desmin in cultured human EBS keratinocytes.

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Introducing a null mutation in the mouse K6alpha and K6beta genes reveals their essential structural role in the oral mucosa

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Role of the Human Heat Shock Protein hsp70 in Protection against Stress-Induced Apoptosis

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

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

29 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Efficient KRT14 targeting and functional characterization of transplanted human keratinocytes for the treatment of 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=3556927

Introducing nanochemoprevention as a novel approach for cancer control: proof of principle with green tea polyphenol epigallocatechin-3-gallate.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Induction of the phase 2 response in mouse and human skin by sulforaphane-containing broccoli sprout extracts.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Sodium 4-phenylbutyrate acts as a chemical chaperone on misfolded myocilin to rescue cells from endoplasmic reticulum stress and apoptosis

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Sustained phenotypic reversion of junctional epidermolysis bullosa dog keratinocytes: Establishment of an immunocompetent animal model for cutaneous gene therapy

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Construction of skin equivalents for gene therapy of recessive dystrophic epidermolysis bullosa

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Functional improvement of mutant keratin cells on addition of desmin: an alternative approach to gene therapy for dominant diseases

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Human plasma as a dermal scaffold for the generation of a completely autologous bioengineered skin

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Distinct chaperone mechanisms can delay the formation of aggresomes by the myopathy-causing R120G alphaB-crystallin mutant

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Ectopic expression of desmin in the epidermis of transgenic mice permits development of a normal epidermis

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Partial revertant mosaicism of keratin 14 in a patient with recessive epidermolysis bullosa simplex

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Expression of a truncated keratin 5 may contribute to severe palmar--plantar hyperkeratosis in epidermolysis bullosa simplex patients

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Chaperones get in touch: the Hip-Hop connection

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

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

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Long-term treatment of girls with ornithine transcarbamylase deficiency

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Mupirocin-resistant Staphylococcus aureus after long-term treatment of patients with epidermolysis bullosa.

2 June 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=3556927

Cytokines as genetic modifiers in K5-/- mice and in human epidermolysis bullosa simplex

2 June 2018

1 reference

https://api.crossref.org/works/10.1111/J.1600-0625.2012.01534.X

Development of skin-humanized mouse models of pachyonychia congenita.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1600-0625.2012.01534.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1600-0625.2012.01534.X

A preclinical model for the analysis of genetically modified human skin in vivo

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1600-0625.2012.01534.X

An in vivo model of wound healing in genetically modified skin-humanized mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1600-0625.2012.01534.X

Preclinical and clinical evaluation of sulforaphane for chemoprevention in the breast.

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1600-0625.2012.01534.X

Role of a Type IV–Like Secretion System of Streptococcus suis 2 in the Development of Streptococcal Toxic Shock Syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1600-0625.2012.01534.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1600-0625.2012.01534.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1600-0625.2012.01534.X

Tetracycline and epidermolysis bullosa simplex: a double-blind, placebo-controlled, crossover randomized clinical trial

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1600-0625.2012.01534.X

Botulinum toxin in the treatment of sweat-worsened foot problems in patients with epidermolysis bullosa simplex and pachyonychia congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1600-0625.2012.01534.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1600-0625.2012.01534.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1600-0625.2012.01534.X

Keratins 2 and 4/13 in reconstituted human skin are reciprocally regulated by retinoids binding to nuclear receptor RARalpha

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1600-0625.2012.01534.X

Expression of retinoid-regulated genes in lamellar ichthyosis vs. healthy control epidermis: changes after oral treatment with liarozole

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1600-0625.2012.01534.X

Knocking down disease with siRNAs

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1600-0625.2012.01534.X

A human keratin 10 knockout causes recessive epidermolytic hyperkeratosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1600-0625.2012.01534.X

Keratin 14-Null Cells as a Model to Test the Efficacy of Gene Therapy Approaches in Epithelial Cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1600-0625.2012.01534.X

A Large Mutational Study in Pachyonychia Congenita

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1600-0625.2012.01534.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1600-0625.2012.01534.X

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1111/J.1600-0625.2012.01534.X

Two familial cases of epidermolysis bullosa simplex successfully treated with tetracycline

21 January 2018

1 reference

12 December 2020

Experimental friction blisters

1 reference

12 December 2020

Oral sodium phenylbutyrate therapy in homozygous beta thalassemia: a clinical trial

1 reference

12 December 2020

Congenital ichthyosiform erythroderma mimicking ichthyosis bullosa of Siemens

1 reference

12 December 2020

A pilot clinical trial of oral sodium 4-phenylbutyrate (Buphenyl) in deltaF508-homozygous cystic fibrosis patients: partial restoration of nasal epithelial CFTR function

1 reference

12 December 2020

Tetracycline and epidermolysis bullosa simplex: a new indication for one of the oldest and most widely used drugs in dermatology?

1 reference

12 December 2020

A premature stop codon mutation in the 2B helix termination peptide of keratin 5 in a German epidermolysis bullosa simplex Dowling-Meara case

1 reference

12 December 2020

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

1 reference

12 December 2020

The chemical chaperone trimethylamine N-oxide ameliorates the effects of mutant keratins in cultured cells

1 reference

12 December 2020

Is cyproheptadine effective in the treatment of subjects with epidermolysis bullosa simplex-Dowling-Meara?

1 reference

12 December 2020

Palmar and axillary hyperhidrosis treated with botulinum toxin: one-year clinical follow-up

1 reference

12 December 2020

Positive response to 5HT-2 antagonists in a family affected by epidermolysis bullosa Dowling-Meara type

1 reference

12 December 2020

Formation of a keratinizing epithelium in culture by a cloned cell line derived from a teratoma

1 reference

12 December 2020

Aluminum chloride hexahydrate and blistering in epidermolysis bullosa simplex

1 reference

12 December 2020

Aluminum chloride hexahydrate treatment of localized epidermolysis bullosa

1 reference

12 December 2020

Donor splice site mutation in keratin 5 causes in-frame removal of 22 amino acids of H1 and 1A rod domains in Dowling-Meara epidermolysis bullosa simplex

1 reference

12 December 2020

Oral liarozole vs. acitretin in the treatment of ichthyosis: a phase II/III multicentre, double-blind, randomized, active-controlled study

1 reference

12 December 2020

New techniques for the grafting of cultured human epidermal cells onto athymic animals

1 reference

12 December 2020

Safety, Tolerance, and Metabolism of Broccoli Sprout Glucosinolates and Isothiocyanates: A Clinical Phase I Study

1 reference

12 December 2020

Realm of revertant mosaicism expanding

1 reference

12 December 2020

Animal models of epidermolysis bullosa: update 2010

1 reference

12 December 2020

Treatment of recurrent bullous eruption of the hand and feet (Weber-Cockayne disease) with topical aluminum chloride

1 reference

12 December 2020

Treatment of epidermolysis bullosa simplex, Weber-Cockayne type, with botulinum toxin type A

1 reference

12 December 2020

Induction of Inflammatory Cytokines by a Keratin Mutation and their Repression by a Small Molecule in a Mouse Model for EBS

1 reference

12 December 2020

RNAi-based drug discovery and its application to therapeutics

1 reference

12 December 2020