Inherited blistering skin diseases: underlying molecular mechanisms and emerging therapies

Epidermolysis bullosa simplex withPLECmutations: new phenotypes and new mutations

(2013) A. Charlesworth et al.   BRITISH JOURNAL OF DERMATOLOGY

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

A case of CD8+ small/medium-sized pleomorphic T-cell lymphoma: clinical and histopathological differential diagnosis

(2013) Z. Kutlubay et al.   BRITISH JOURNAL OF DERMATOLOGY

Desmoglein-1, differentiation, and disease

(2013) Christoph M. Hammers et al.   JOURNAL OF CLINICAL INVESTIGATION

Premature Termination Codon Read-Through in the ABCC6 Gene: Potential Treatment for Pseudoxanthoma Elasticum

(2013) Yong Zhou 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

Progress in Epidermolysis Bullosa Research: Summary of DEBRA International Research Conference 2012

(2013) Leena Bruckner-Tuderman et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Plectin Mutations Underlie Epidermolysis Bullosa Simplex in 8% of Patients

(2013) Marieke C. Bolling 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

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

(2013) Jakub Tolar et al.   LANCET

TALEN-based Gene Correction for Epidermolysis Bullosa

(2013) Mark J Osborn et al.   MOLECULAR THERAPY

Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting

(2013) Liat Samuelov et al.   NATURE GENETICS

Topical diacerein for epidermolysis bullosa: a randomized controlled pilot study

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

The long and winding road that leads to a cure for epidermolysis bullosa

(2013) Sonia Carulli et al.   Regenerative Medicine

Pluripotent Stem Cells Induced from Mouse Somatic Cells by Small-Molecule Compounds

(2013) P. Hou et al.   SCIENCE

Desmosome assembly and dynamics

(2013) Oxana Nekrasova et al.   TRENDS IN CELL BIOLOGY

Laminin 332 in junctional epidermolysis bullosa

(2013) Dimitra Kiritsi et al.   Cell Adhesion & Migration

A Read-Through Drug Put through Its Paces

(2013) Roland G. Roberts   PLOS BIOLOGY

Mesenchymal Stem Cells in Tissue Repair

(2013) Amy M. DiMarino et al.   Frontiers in Immunology

The many faces of plectin and plectinopathies: pathology and mechanisms

(2012) Lilli Winter et al.   ACTA NEUROPATHOLOGICA

Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility

(2012) John A. McGrath et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Hematopoietic Cell Transplantation for Nonmalignant Disorders

(2012) Jakub Tolar et al.   BIOLOGY OF BLOOD AND MARROW TRANSPLANTATION

The changing spectrum of arrhythmogenic (right ventricular) cardiomyopathy

(2012) Stefania Rizzo et al.   CELL AND TISSUE RESEARCH

α6β4 Integrin, a Master Regulator of Expression of Integrins in Human Keratinocytes

(2012) Kristina R. Kligys et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

Defining Keratin Protein Function in Skin Epithelia: Epidermolysis Bullosa Simplex and Its Aftermath

(2012) Pierre A. Coulombe et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Pemphigoid diseases

(2012) Enno Schmidt et al.   LANCET

Integrin α3Mutations with Kidney, Lung, and Skin Disease

(2012) Cristina Has et al.   NEW ENGLAND JOURNAL OF MEDICINE

Sense from nonsense: therapies for premature stop codon diseases

(2012) Laure Bidou et al.   TRENDS IN MOLECULAR MEDICINE

Desmosomal genodermatoses

(2011) G. Petrof et al.   BRITISH JOURNAL OF DERMATOLOGY

Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a review and update

(2011) A. Azaouagh et al.   Clinical Research in Cardiology

Genome Engineering With Zinc-Finger Nucleases

(2011) Dana Carroll   GENETICS

Keratin disorders: from gene to therapy

(2011) W. H. I. McLean et al.   HUMAN MOLECULAR GENETICS

Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity

(2011) Manuela Pigors et al.   HUMAN MOLECULAR GENETICS

Restrictive loss of plakoglobin in cardiomyocytes leads to arrhythmogenic cardiomyopathy

(2011) Deqiang Li et al.   HUMAN MOLECULAR GENETICS

A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome

(2011) J.J.A.J. van der Velden et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

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

Autosomal Recessive Epidermolysis Bullosa Simplex Due to Loss of BPAG1-e Expression

(2011) Lu Liu et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Desmoglein as a Target in Skin Disease and Beyond

(2011) Masayuki Amagai et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Deconstructing the skin: cytoarchitectural determinants of epidermal morphogenesis

(2011) Cory L. Simpson et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

Concise Review: Transplantation of Human Hematopoietic Cells for Extracellular Matrix Protein Deficiency in Epidermolysis Bullosa

(2011) Jakub Tolar et al.   STEM CELLS

Loss of Corneodesmosin Leads to Severe Skin Barrier Defect, Pruritus, and Atopy: Unraveling the Peeling Skin Disease

(2010) Vinzenz Oji et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The Epidermal Ca2+ Gradient: Measurement Using the Phasor Representation of Fluorescent Lifetime Imaging

(2010) A. Celli et al.   BIOPHYSICAL JOURNAL

Development and successful clinical application of preimplantation genetic haplotyping for Herlitz junctional epidermolysis bullosa

(2010) H. Fassihi et al.   BRITISH JOURNAL OF DERMATOLOGY

Expanding the keratin mutation database: novel and recurrent mutations and genotype-phenotype correlations in 28 patients with epidermolytic ichthyosis

(2010) M.J. Arin et al.   BRITISH JOURNAL OF DERMATOLOGY

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

Unique and redundant functions of integrins in the epidermis

(2010) Coert Margadant et al.   FASEB JOURNAL

K14 mRNA reprogramming for dominant epidermolysis bullosa simplex

(2010) Verena Wally et al.   HUMAN MOLECULAR GENETICS

A Homozygous Nonsense Mutation within the Dystonin Gene Coding for the Coiled-Coil Domain of the Epithelial Isoform of BPAG1 Underlies a New Subtype of Autosomal Recessive Epidermolysis Bullosa Simplex

(2010) Richard W. Groves et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Homozygous Mutations in the 5′ Region of the JUP Gene Result in Cutaneous Disease but Normal Heart Development in Children

(2010) Rita M. Cabral et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Acral Peeling Skin Syndrome with TGM5 Gene Mutations May Resemble Epidermolysis Bullosa Simplex in Young Individuals

(2010) Dimitra Kiritsi et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Revertant Mosaicism in Recessive Dystrophic Epidermolysis Bullosa

(2010) Noor Almaani et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Insights from a Desmoplakin Mutation Identified in Lethal Acantholytic Epidermolysis Bullosa

(2010) Ryan P. Hobbs 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

Genome editing with engineered zinc finger nucleases

(2010) Fyodor D. Urnov et al.   NATURE REVIEWS GENETICS

Bone Marrow Transplantation for Recessive Dystrophic Epidermolysis Bullosa

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

A Homozygous Nonsense Mutation in the Human Desmocollin-3 (DSC3) Gene Underlies Hereditary Hypotrichosis and Recurrent Skin Vesicles

(2009) Muhammad Ayub et al.   AMERICAN JOURNAL OF HUMAN GENETICS

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

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

Mutation inDSG1causing autosomal dominant striate palmoplantar keratoderma

(2009) M. Zamiri et al.   BRITISH JOURNAL OF DERMATOLOGY

Plectin Gene Defects Lead to Various Forms of Epidermolysis Bullosa Simplex

(2009) Günther A. Rezniczek et al.   DERMATOLOGIC CLINICS

Epidermolysis Bullosa Simplex

(2009) Eli Sprecher   DERMATOLOGIC CLINICS

Non-Herlitz Junctional Epidermolysis Bullosa

(2009) Kim B. Yancey et al.   DERMATOLOGIC CLINICS

Herlitz Junctional Epidermolysis Bullosa

(2009) Martin Laimer et al.   DERMATOLOGIC CLINICS

Type VII Collagen: The Anchoring Fibril Protein at Fault in Dystrophic Epidermolysis Bullosa

(2009) Hye Jin Chung et al.   DERMATOLOGIC CLINICS

The role of kindlins in cell biology and relevance to human disease

(2009) J.E. Lai-Cheong et al.   INTERNATIONAL JOURNAL OF BIOCHEMISTRY & CELL BIOLOGY

A Missense Mutation in TGM5 Causes Acral Peeling Skin Syndrome in a Tunisian Family

(2009) Monia Kharfi et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Extracutaneous manifestations and complications of inherited epidermolysis bullosa

(2009) Jo-David Fine et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

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

First-in-human Mutation-targeted siRNA Phase Ib Trial of an Inherited Skin Disorder

(2009) Sancy A Leachman et al.   MOLECULAR THERAPY

Rab GTPases as coordinators of vesicle traffic

(2009) Harald Stenmark   NATURE REVIEWS MOLECULAR CELL BIOLOGY

The Kindlin protein family: new members to the club of focal adhesion proteins

(2009) Alexander Meves et al.   TRENDS IN CELL BIOLOGY

Intercellular Junction Assembly, Dynamics, and Homeostasis

(2009) K. J. Green et al.   Cold Spring Harbor Perspectives in Biology

Autosomal dominant junctional epidermolysis bullosa

(2008) N. Almaani et al.   BRITISH JOURNAL OF DERMATOLOGY

Acantholytic ectodermal dysplasia: clinicopathological study of a new desmosomal disorder

(2008) B.C. Winik et al.   BRITISH JOURNAL OF DERMATOLOGY

Kindler syndrome: a focal adhesion genodermatosis

(2008) J.E. Lai-Cheong et al.   BRITISH JOURNAL OF DERMATOLOGY

Skin barrier function

(2008) Peter M. Elias   CURRENT ALLERGY AND ASTHMA REPORTS

Laminin-332 and -511 in skin

(2008) Koji Sugawara et al.   EXPERIMENTAL DERMATOLOGY

Loss of desmocollin 3 in mice leads to epidermal blistering

(2008) J. Chen et al.   JOURNAL OF CELL SCIENCE

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

Inactive and Highly Active, Proteolytically Processed Transglutaminase-5 in Epithelial Cells

(2008) Valentina Pietroni et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

Potential of Fibroblast Cell Therapy for Recessive Dystrophic Epidermolysis Bullosa

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

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

(2008) Jo-David Fine et al.   JOURNAL OF THE AMERICAN ACADEMY OF 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

Desmosome structure, composition and function

(2007) David Garrod et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

5′ Trans-Splicing Repair of the PLEC1 Gene

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