Therapies for inherited skin fragility disorders

Treatment of Hereditary Epidermolysis Bullosa: Updates and Future Prospects

(2014) Chao-Kai Hsu et al.   AMERICAN JOURNAL OF CLINICAL DERMATOLOGY

The Genetics of Skin Fragility

(2014) Cristina Has et al.   Annual Review of Genomics and Human Genetics

Human Cord Blood-Derived Unrestricted Somatic Stem Cells Promote Wound Healing and have Therapeutic Potential for Patients with Recessive Dystrophic Epidermolysis Bullosa

(2014) Yanling Liao et al.   CELL TRANSPLANTATION

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

(2014) Joseph K Cheng et al.   CURRENT OPINION IN BIOTECHNOLOGY

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

(2014) Teresa Odorisio et al.   HUMAN MOLECULAR GENETICS

Chemical chaperone ameliorates pathological protein aggregation in plectin-deficient muscle

(2014) Lilli Winter et al.   JOURNAL OF CLINICAL INVESTIGATION

Mechanisms of Natural Gene Therapy in Dystrophic Epidermolysis Bullosa

(2014) Dimitra Kiritsi et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Report of the 10th Annual International Pachyonychia Congenita Consortium Meeting

(2014) Maurice A.M. van Steensel et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

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

(2014) Jörn Tongers et al.   JOURNAL OF MOLECULAR AND CELLULAR CARDIOLOGY

Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification

(2014) Jo-David Fine et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Repairing Without Cutting: A Safer Alternative to Gene Correction?

(2014) Fulvio Mavilio   MOLECULAR THERAPY

Somatic Correction of Junctional Epidermolysis Bullosa by a Highly Recombinogenic AAV Variant

(2014) Sandra P Melo et al.   MOLECULAR THERAPY

Acute Kidney Injury and Chronic Kidney Disease as Interconnected Syndromes

(2014) Lakhmir S. Chawla et al.   NEW ENGLAND JOURNAL OF MEDICINE

Genetically corrected iPSCs as cell therapy for recessive dystrophic epidermolysis bullosa

(2014) D. Wenzel et al.   Science Translational Medicine

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

(2014) V. Sebastiano et al.   Science Translational Medicine

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

(2014) N. Umegaki-Arao et al.   Science Translational Medicine

Antisense Mediated Splicing Modulation For Inherited Metabolic Diseases: Challenges for Delivery

(2014) Belen Pérez et al.   Nucleic Acid Therapeutics

Gene Therapy for Skin Diseases

(2014) E. Gorell et al.   Cold Spring Harbor Perspectives in Medicine

Cell Therapy in Dermatology

(2014) G. Petrof et al.   Cold Spring Harbor Perspectives in Medicine

Molecular Identification of Collagen 17a1 as a Major Genetic Modifier of Laminin Gamma 2 Mutation-Induced Junctional Epidermolysis Bullosa in Mice

(2014) Thomas J. Sproule et al.   PLoS Genetics

3D In Vitro Model of a Functional Epidermal Permeability Barrier from Human Embryonic Stem Cells and Induced Pluripotent Stem Cells

(2014) Anastasia Petrova et al.   Stem Cell Reports

Phase I/II Ex Vivo Gene Therapy Clinical Trial for Recessive Dystrophic Epidermolysis Bullosa Using Skin Equivalent Grafts Genetically Corrected with a COL7A1-Encoding SIN Retroviral Vector (GENEGRAFT)

(2014)   Human Gene Therapy Clinical Development

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

(2013) G. Petrof et al.   BRITISH JOURNAL OF DERMATOLOGY

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

(2013) Lara Cutlar et al.   EXPERIMENTAL DERMATOLOGY

Collagen VII plays a dual role in wound healing

(2013) Alexander Nyström et al.   JOURNAL OF CLINICAL INVESTIGATION

The Pathogenetic Role of IL-1β in Severe Epidermolysis Bullosa Simplex

(2013) Verena Wally et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Intravenously Injected Recombinant Human Type VII Collagen Homes to Skin Wounds and Restores Skin Integrity of Dystrophic Epidermolysis Bullosa

(2013) David T. Woodley et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Systemic Protein Therapy for Recessive Dystrophic Epidermolysis Bullosa: How Far Are We from Clinical Translation?

(2013) Alain Hovnanian   JOURNAL OF INVESTIGATIVE DERMATOLOGY

De Novo Anti-Type VII Collagen Antibodies in Patients with Recessive Dystrophic Epidermolysis Bullosa

(2013) David T. Woodley et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Long-Term Survival of Type XVII Collagen Revertant Cells in an Animal Model of Revertant Cell Therapy

(2013) Antoni Gostyński et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Patient-Specific Naturally Gene-Reverted Induced Pluripotent Stem Cells in Recessive Dystrophic Epidermolysis Bullosa

(2013) Jakub Tolar et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

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

(2013) Supriya S. Venugopal et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Successful therapeutic transplantation of revertant skin in epidermolysis bullosa

(2013) Antoni Gostyński et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

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

(2013) Jakub Tolar et al.   LANCET

Global remodelling of cellular microenvironment due to loss of collagen VII

(2013) V. Kuttner et al.   Molecular Systems Biology

Topical Application of Recombinant Type VII Collagen Incorporates Into the Dermal–Epidermal Junction and Promotes Wound Closure

(2013) Xinyi Wang et al.   MOLECULAR THERAPY

TALEN-based Gene Correction for Epidermolysis Bullosa

(2013) Mark J Osborn et al.   MOLECULAR THERAPY

To Skip or Not to Skip: That Is the Question for Duchenne Muscular Dystrophy

(2013)   MOLECULAR THERAPY

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

(2013) Marilina Tampoia et al.   Orphanet Journal of Rare Diseases

Topical diacerein for epidermolysis bullosa: a randomized controlled pilot study

(2013) Verena Wally et al.   Orphanet Journal of Rare Diseases

Generation of 3D Skin Equivalents Fully Reconstituted from Human Induced Pluripotent Stem Cells (iPSCs)

(2013) Munenari Itoh et al.   PLoS One

Long-Term Stability and Safety of Transgenic Cultured Epidermal Stem Cells in Gene Therapy of Junctional Epidermolysis Bullosa

(2013) Laura De Rosa et al.   Stem Cell Reports

How do keratinizing disorders and blistering disorders overlap?

(2012) Takahiro Hamada et al.   EXPERIMENTAL DERMATOLOGY

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

(2012) Thomas J. Sproule et al.   EXPERIMENTAL DERMATOLOGY

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

(2012) Dimitra Kiritsi et al.   JOURNAL OF CLINICAL INVESTIGATION

siRNA-Mediated Allele-Specific Inhibition of Mutant Type VII Collagen in Dominant Dystrophic Epidermolysis Bullosa

(2012) Valérie Pendaries et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Natural Gene Therapy May Occur in All Patients with Generalized Non-Herlitz Junctional Epidermolysis Bullosa with COL17A1 Mutations

(2012) Anna M.G. Pasmooij et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Keratinocytes from Induced Pluripotent Stem Cells in Junctional Epidermolysis Bullosa

(2012) Jakub Tolar et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Gene therapies need new development models

(2012) Fulvio Mavilio   NATURE

Keratinocyte-Targeted Expression of Human Laminin γ2 Rescues Skin Blistering and Early Lethality of Laminin γ2 Deficient Mice

(2012) Tracy L. Adair-Kirk et al.   PLoS One

Development of Allele-Specific Therapeutic siRNA for Keratin 5 Mutations in Epidermolysis Bullosa Simplex

(2011) Sarah D. Atkinson et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

HB-EGF Induces COL7A1 Expression in Keratinocytes and Fibroblasts: Possible Mechanism Underlying Allogeneic Fibroblast Therapy in Recessive Dystrophic Epidermolysis Bullosa

(2011) Nikoletta Nagy et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Use of Self-Delivery siRNAs to Inhibit Gene Expression in an Organotypic Pachyonychia Congenita Model

(2011) Robyn P. Hickerson et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa

(2011) D. Kiritsi et al.   JOURNAL OF MEDICAL GENETICS

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

(2011) Mark A. Kay   NATURE REVIEWS GENETICS

A novel screening system improves genetic correction by internal exon replacement

(2011) U. Koller et al.   NUCLEIC ACIDS RESEARCH

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

(2011) M. Itoh et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

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

(2011) K. Tamai et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Replenishment of type VII collagen and re-epithelialization of chronically ulcerated skin after intradermal administration of allogeneic mesenchymal stromal cells in two patients with recessive dystrophic epidermolysis bullosa

(2010) Paulette Conget et al.   CYTOTHERAPY

Long-Term Type VII Collagen Restoration to Human Epidermolysis Bullosa Skin Tissue

(2010) Zurab Siprashvili et al.   HUMAN GENE THERAPY

K14 mRNA reprogramming for dominant epidermolysis bullosa simplex

(2010) Verena Wally et al.   HUMAN MOLECULAR GENETICS

A Mouse Model of Generalized Non-Herlitz Junctional Epidermolysis Bullosa

(2010) Jason A. Bubier et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Functional Correction of Type VII Collagen Expression in Dystrophic Epidermolysis Bullosa

(2010) Eva M. Murauer et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Development of Quantitative Molecular Clinical End Points for siRNA Clinical Trials

(2010) Robyn P. Hickerson et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Induced Pluripotent Stem Cells from Individuals with Recessive Dystrophic Epidermolysis Bullosa

(2010) Jakub Tolar et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

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

(2010) Ganna Bilousova et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

SIN Retroviral Vectors Expressing COL7A1 Under Human Promoters for Ex Vivo Gene Therapy of Recessive Dystrophic Epidermolysis Bullosa

(2010) Matthias Titeux et al.   MOLECULAR THERAPY

Efficient KRT14 Targeting and Functional Characterization of Transplanted Human Keratinocytes for the Treatment of Epidermolysis Bullosa Simplex

(2010) Lisa M Petek et al.   MOLECULAR THERAPY

Bone Marrow Transplantation for Recessive Dystrophic Epidermolysis Bullosa

(2010) John E. Wagner et al.   NEW ENGLAND JOURNAL OF MEDICINE

Stem-Cell Gene Therapy for the Wiskott–Aldrich Syndrome

(2010) Kaan Boztug et al.   NEW ENGLAND JOURNAL OF MEDICINE

Inherited epidermolysis bullosa

(2010) Jo-David Fine   Orphanet Journal of Rare Diseases

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

(2009) A. Gostynski et al.   BRITISH JOURNAL OF DERMATOLOGY

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

(2009) Hind Guenou et al.   LANCET

Mechanisms of Fibroblast Cell Therapy for Dystrophic Epidermolysis Bullosa: High Stability of Collagen VII Favors Long-term Skin Integrity

(2009) Johannes S Kern et al.   MOLECULAR THERAPY

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

(2008) J. Tolar et al.   BLOOD

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

(2008) Anja Fritsch et al.   JOURNAL OF CLINICAL INVESTIGATION

Potential of Fibroblast Cell Therapy for Recessive Dystrophic Epidermolysis Bullosa

(2008) Tracy Wong et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Injection of Recombinant Human Type VII Collagen Corrects the Disease Phenotype in a Murine Model of Dystrophic Epidermolysis Bullosa

(2008) Jennifer Remington et al.   MOLECULAR THERAPY

A frequent functional SNP in theMMP1promoter is associated with higher disease severity in recessive dystrophic epidermolysis bullosa

(2007) Matthias Titeux et al.   HUMAN MUTATION

5′ Trans-Splicing Repair of the PLEC1 Gene

(2007) Verena Wally et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Protein Therapeutics for Junctional Epidermolysis Bullosa: Incorporation of Recombinant β3 Chain into Laminin 332 in β3-/- Keratinocytes In Vitro

(2007) Olga Igoucheva et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY