Therapies for inherited skin fragility disorders. (Q38444460)

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6 March 2020

review article

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title

Therapies for inherited skin fragility disorders (English)

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25916580%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

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6 March 2020

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25916580%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

Cristina Has

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3 September 2017

Dimitra Kiritsi

series ordinal

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3 September 2017

publication date

1 May 2015

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https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25916580%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

published in

Experimental Dermatology

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6 March 2020

volume

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issue

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6 March 2020

page(s)

325-331

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Inherited epidermolysis bullosa

6 March 2020

cites work

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The genetics of skin fragility

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How do keratinizing disorders and blistering disorders overlap?

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Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification

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Systemic protein therapy for recessive dystrophic epidermolysis bullosa: how far are we from clinical translation?

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Compound heterozygosity for an out-of-frame deletion and a splice site mutation in the LAMB3 gene causes nonlethal junctional epidermolysis bullosa

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Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.

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A hypomorphic mouse model of dystrophic epidermolysis bullosa reveals mechanisms of disease and response to fibroblast therapy

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A mouse model of generalized non-Herlitz junctional epidermolysis bullosa

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A direct method to determine the strength of the dermal-epidermal junction in a mouse model for epidermolysis bullosa

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De novo anti-type VII collagen antibodies in patients with recessive dystrophic epidermolysis bullosa

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Prevalence of specific anti-skin autoantibodies in a cohort of patients with inherited epidermolysis bullosa

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Injection of recombinant human type VII collagen corrects the disease phenotype in a murine model of dystrophic epidermolysis bullosa

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Cutaneous gene transfer for skin and systemic diseases

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Gene therapy for skin diseases

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Gene therapy: pursuing restoration of dermal adhesion in recessive dystrophic epidermolysis bullosa

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Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells.

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Long-term stability and safety of transgenic cultured epidermal stem cells in gene therapy of junctional epidermolysis bullosa

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Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease

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Stem-cell gene therapy for the Wiskott-Aldrich syndrome

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State-of-the-art gene-based therapies: the road ahead

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Repairing without cutting: a safer alternative to gene correction?

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SIN retroviral vectors expressing COL7A1 under human promoters for ex vivo gene therapy of recessive dystrophic epidermolysis bullosa

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Long-term type VII collagen restoration to human epidermolysis bullosa skin tissue

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To skip or not to skip: that is the question for duchenne muscular dystrophy.

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Antisense mediated splicing modulation for inherited metabolic diseases: challenges for delivery

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The genome editing toolbox: a spectrum of approaches for targeted modification

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TALEN-based gene correction for epidermolysis bullosa.

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Somatic correction of junctional epidermolysis bullosa by a highly recombinogenic AAV variant.

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K14 mRNA reprogramming for dominant epidermolysis bullosa simplex.

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5' trans-splicing repair of the PLEC1 gene

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A novel screening system improves genetic correction by internal exon replacement.

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

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Development of quantitative molecular clinical end points for siRNA clinical trials

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Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex

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Report of the 10th Annual International Pachyonychia Congenita Consortium Meeting

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Cell therapy in dermatology.

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Allogeneic blood and bone marrow cells for the treatment of severe epidermolysis bullosa: repair of the extracellular matrix

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Normal and gene-corrected dystrophic epidermolysis bullosa fibroblasts alone can produce type VII collagen at the basement membrane zone

21 January 2018

1 reference

Intravenously injected human fibroblasts home to skin wounds, deliver type VII collagen, and promote wound healing

21 January 2018

1 reference

Mechanisms of fibroblast cell therapy for dystrophic epidermolysis bullosa: high stability of collagen VII favors long-term skin integrity

21 January 2018

1 reference

Amelioration of epidermolysis bullosa by transfer of wild-type bone marrow cells

21 January 2018

1 reference

PDGFRalpha-positive cells in bone marrow are mobilized by high mobility group box 1 (HMGB1) to regenerate injured epithelia

21 January 2018

1 reference

Bone marrow transplantation for recessive dystrophic epidermolysis bullosa

21 January 2018

1 reference

A phase II randomized vehicle-controlled trial of intradermal allogeneic fibroblasts for recessive dystrophic epidermolysis bullosa

21 January 2018

1 reference

Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa.

21 January 2018

1 reference

Fibroblast cell therapy enhances initial healing in recessive dystrophic epidermolysis bullosa wounds: results of a randomized, vehicle-controlled trial.

21 January 2018

1 reference

Human cord blood-derived unrestricted somatic stem cells promote wound healing and have therapeutic potential for patients with recessive dystrophic epidermolysis bullosa.

21 January 2018

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Human embryonic stem-cell derivatives for full reconstruction of the pluristratified epidermis: a preclinical study

21 January 2018

1 reference

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

21 January 2018

1 reference

Induced pluripotent stem cells from individuals with recessive dystrophic epidermolysis bullosa

21 January 2018

1 reference

Differentiation of Mouse Induced Pluripotent Stem Cells into a Multipotent Keratinocyte Lineage

21 January 2018

1 reference

Genetically corrected iPSCs as cell therapy for recessive dystrophic epidermolysis bullosa.

21 January 2018

1 reference

Human COL7A1-corrected induced pluripotent stem cells for the treatment of recessive dystrophic epidermolysis bullosa

21 January 2018

1 reference

Keratinocytes from induced pluripotent stem cells in junctional epidermolysis bullosa

21 January 2018

1 reference

Induced pluripotent stem cells from human revertant keratinocytes for the treatment of epidermolysis bullosa

21 January 2018

1 reference

Generation of 3D skin equivalents fully reconstituted from human induced pluripotent stem cells (iPSCs).

21 January 2018

1 reference

3D In vitro model of a functional epidermal permeability barrier from human embryonic stem cells and induced pluripotent stem cells

21 January 2018

1 reference

Enhanced potency of cell-based therapy for ischemic tissue repair using an injectable bioactive epitope presenting nanofiber support matrix

21 January 2018

1 reference

Natural gene therapy may occur in all patients with generalized non-Herlitz junctional epidermolysis bullosa with COL17A1 mutations

21 January 2018

1 reference

Revertant mosaicism in a human skin fragility disorder results from slipped mispairing and mitotic recombination.

21 January 2018

1 reference

Mechanisms of natural gene therapy in dystrophic epidermolysis bullosa.

21 January 2018

1 reference

Adhesive stripping to remove epidermis in junctional epidermolysis bullosa for revertant cell therapy

21 January 2018

1 reference

Long-term survival of type XVII collagen revertant cells in an animal model of revertant cell therapy.

21 January 2018

1 reference

Successful therapeutic transplantation of revertant skin in epidermolysis bullosa

21 January 2018

1 reference

Patient-specific naturally gene-reverted induced pluripotent stem cells in recessive dystrophic epidermolysis bullosa

21 January 2018

1 reference

Injection of recombinant human type VII collagen restores collagen function in dystrophic epidermolysis bullosa

21 January 2018

1 reference

Topical application of recombinant type VII collagen incorporates into the dermal-epidermal junction and promotes wound closure

21 January 2018

1 reference

Protein therapeutics for junctional epidermolysis bullosa: incorporation of recombinant beta3 chain into laminin 332 in beta3-/- keratinocytes in vitro

21 January 2018

1 reference

Keratinocyte-targeted expression of human laminin γ2 rescues skin blistering and early lethality of laminin γ2 deficient mice

21 January 2018

1 reference

Laminin-5 inhibits human keratinocyte migration.

21 January 2018

1 reference

Collagen VII plays a dual role in wound healing

21 January 2018

1 reference

Acute kidney injury and chronic kidney disease as interconnected syndromes

21 January 2018

1 reference

Global remodelling of cellular microenvironment due to loss of collagen VII.

21 January 2018

1 reference

Monozygotic twins discordant for recessive dystrophic epidermolysis bullosa phenotype highlight the role of TGF-β signalling in modifying disease severity

21 January 2018

1 reference

Molecular identification of collagen 17a1 as a major genetic modifier of laminin gamma 2 mutation-induced junctional epidermolysis bullosa in mice.

21 January 2018

1 reference

The pathogenetic role of IL-1β in severe epidermolysis bullosa simplex.

21 January 2018

1 reference

Topical diacerein for epidermolysis bullosa: a randomized controlled pilot study

21 January 2018

1 reference

Chemical chaperone ameliorates pathological protein aggregation in plectin-deficient muscle

21 January 2018

1 reference

Treatment of hereditary epidermolysis bullosa: updates and future prospects.

21 January 2018

1 reference

Efficient KRT14 targeting and functional characterization of transplanted human keratinocytes for the treatment of epidermolysis bullosa simplex

21 January 2018

1 reference

Antisense-mediated exon skipping to reframe transcripts

21 January 2018

1 reference

Functional correction of type VII collagen expression in dystrophic epidermolysis bullosa

21 January 2018

1 reference

Intravenously injected recombinant human type VII collagen homes to skin wounds and restores skin integrity of dystrophic epidermolysis bullosa

21 January 2018

1 reference

21 January 2018

Identifiers

DOI

10.1111/EXD.12666

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25916580%20AND%20SRC:MED&resulttype=core&format=json

6 March 2020

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25916580%20AND%20SRC:MED&resulttype=core&format=json