| P50 | author | John Mcgrath | Q72104357 |
| P2093 | author name string | Amr Salam | |
| | Laura E Proudfoot | |
| P2860 | cites work | Haploinsufficiency of desmoplakin causes a striate subtype of palmoplantar keratoderma | Q22008664 |
| | Refined characterization of corneodesmosin proteolysis during terminal differentiation of human epidermis and its relationship to desquamation | Q24291049 |
| | Corneodesmosin, a component of epidermal corneocyte desmosomes, displays homophilic adhesive properties | Q24291982 |
| | Loss of corneodesmosin leads to severe skin barrier defect, pruritus, and atopy: unraveling the peeling skin disease | Q24294533 |
| | Germline Mutation in EXPH5 Implicates the Rab27B Effector Protein Slac2-b in Inherited Skin Fragility | Q24304339 |
| | Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa | Q24308020 |
| | Adhesive stripping to remove epidermis in junctional epidermolysis bullosa for revertant cell therapy | Q42800134 |
| | 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. | Q43158412 |
| | Acral peeling skin syndrome with TGM5 gene mutations may resemble epidermolysis bullosa simplex in young individuals. | Q43158415 |
| | Epidermolysis bullosa simplex with PLEC mutations: new phenotypes and new mutations | Q43685797 |
| | A phase II randomized vehicle-controlled trial of intradermal allogeneic fibroblasts for recessive dystrophic epidermolysis bullosa | Q44098231 |
| | Inherited dystrophic epidermolysis bullosa in inbred dogs: A spontaneous animal model for somatic gene therapy | Q45869096 |
| | Natural gene therapy may occur in all patients with generalized non-Herlitz junctional epidermolysis bullosa with COL17A1 mutations | Q45876967 |
| | A missense mutation in TGM5 causes acral peeling skin syndrome in a Tunisian family. | Q46013508 |
| | Autosomal dominant junctional epidermolysis bullosa. | Q46176854 |
| | Fibroblast cell therapy enhances initial healing in recessive dystrophic epidermolysis bullosa wounds: results of a randomized, vehicle-controlled trial. | Q46860053 |
| | CD151, the first member of the tetraspanin (TM4) superfamily detected on erythrocytes, is essential for the correct assembly of human basement membranes in kidney and skin | Q50335739 |
| | Plectin mutations underlie epidermolysis bullosa simplex in 8% of patients. | Q50900738 |
| | Acantholytic ectodermal dysplasia: clinicopathological study of a new desmosomal disorder. | Q52590759 |
| | Progress in Epidermolysis bullosa research: summary of DEBRA International Research Conference 2012. | Q53105158 |
| | Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa. | Q53487278 |
| | Development and successful clinical application of preimplantation genetic haplotyping for Herlitz junctional epidermolysis bullosa. | Q54440983 |
| | Mutation in DSG1 causing autosomal dominant striate palmoplantar keratoderma. | Q54475786 |
| | Autosomal Recessive Epidermolysis Bullosa Simplex Due to Loss of BPAG1-e Expression | Q58195159 |
| | A recurrent mutation in the TGM5 gene in European patients with acral peeling skin syndrome | Q58859507 |
| | Plectin deficiency results in muscular dystrophy with epidermolysis bullosa | Q24310411 |
| | Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen | Q24312098 |
| | Mutations in the plakophilin 1 gene result in ectodermal dysplasia/skin fragility syndrome | Q24317704 |
| | Loss of kindlin-1, a human homolog of the Caenorhabditis elegans actin-extracellular-matrix linker protein UNC-112, causes Kindler syndrome | Q24532354 |
| | A homozygous missense mutation in TGM5 abolishes epidermal transglutaminase 5 activity and causes acral peeling skin syndrome | Q24538571 |
| | Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa | Q24562156 |
| | Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes | Q24648149 |
| | A homozygous nonsense mutation in the human desmocollin-3 (DSC3) gene underlies hereditary hypotrichosis and recurrent skin vesicles | Q24657947 |
| | The tetraspan molecule CD151, a novel constituent of hemidesmosomes, associates with the integrin alpha6beta4 and may regulate the spatial organization of hemidesmosomes | Q24670149 |
| | Defining keratin protein function in skin epithelia: epidermolysis bullosa simplex and its aftermath | Q26852211 |
| | Laminin 332 in junctional epidermolysis bullosa | Q26866946 |
| | Keratin disorders: from gene to therapy | Q27011750 |
| | Hematopoietic cell transplantation for nonmalignant disorders | Q27693907 |
| | Induction of pluripotent stem cells from adult human fibroblasts by defined factors | Q27860967 |
| | Rab GTPases as coordinators of vesicle traffic | Q28131746 |
| | N-terminal deletion in a desmosomal cadherin causes the autosomal dominant skin disease striate palmoplantar keratoderma | Q28144275 |
| | Lack of plakophilin 1 increases keratinocyte migration and reduces desmosome stability | Q28184527 |
| | An unusual N-terminal deletion of the laminin alpha3a isoform leads to the chronic granulation tissue disorder laryngo-onycho-cutaneous syndrome | Q28201373 |
| | Hypotrichosis simplex of the scalp is associated with nonsense mutations in CDSN encoding corneodesmosin | Q28204920 |
| | Development of allele-specific therapeutic siRNA for keratin 5 mutations in epidermolysis bullosa simplex | Q28242020 |
| | Restrictive loss of plakoglobin in cardiomyocytes leads to arrhythmogenic cardiomyopathy | Q28246772 |
| | Desmosome structure, composition and function | Q28248541 |
| | Homozygous mutations in the 5' region of the JUP gene result in cutaneous disease but normal heart development in children | Q28272365 |
| | The many faces of plectin and plectinopathies: pathology and mechanisms | Q28272509 |
| | Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa | Q28273322 |
| | The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB | Q28274402 |
| | Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization | Q28283989 |
| | Genome editing with engineered zinc finger nucleases | Q28290795 |
| | Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion | Q28303984 |
| | Lack of plakoglobin leads to lethal congenital epidermolysis bullosa: a novel clinico-genetic entity | Q28305347 |
| | A read-through drug put through its paces | Q28534304 |
| | Laminin-332 and -511 in skin. | Q37161422 |
| | Desmoglein 1 deficiency results in severe dermatitis, multiple allergies and metabolic wasting | Q37218675 |
| | Premature termination codon read-through in the ABCC6 gene: potential treatment for pseudoxanthoma elasticum | Q37238774 |
| | Kindler syndrome: a focal adhesion genodermatosis. | Q37361392 |
| | Extracutaneous manifestations and complications of inherited epidermolysis bullosa: part I. Epithelial associated tissues | Q37584740 |
| | The Kindlin protein family: new members to the club of focal adhesion proteins | Q37600289 |
| | Plectin gene defects lead to various forms of epidermolysis bullosa simplex | Q37640756 |
| | Herlitz junctional epidermolysis bullosa | Q37640760 |
| | Non-herlitz junctional epidermolysis bullosa | Q37640764 |
| | Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa | Q37640771 |
| | Allogeneic blood and bone marrow cells for the treatment of severe epidermolysis bullosa: repair of the extracellular matrix | Q37649276 |
| | Intercellular junction assembly, dynamics, and homeostasis | Q37698269 |
| | Unique and redundant functions of integrins in the epidermis. | Q37772021 |
| | Concise review: Transplantation of human hematopoietic cells for extracellular matrix protein deficiency in epidermolysis bullosa | Q37873887 |
| | The structure and function of type VII collagen | Q37922168 |
| | Desmosomal genodermatoses | Q37935047 |
| | The changing spectrum of arrhythmogenic (right ventricular) cardiomyopathy | Q38000066 |
| | Sense from nonsense: therapies for premature stop codon diseases. | Q38053540 |
| | Pemphigoid diseases | Q38067153 |
| | The long and winding road that leads to a cure for epidermolysis bullosa. | Q38119245 |
| | Inactive and highly active, proteolytically processed transglutaminase-5 in epithelial cells | Q39977448 |
| | 5' trans-splicing repair of the PLEC1 gene | Q40054873 |
| | Development of spliceosome-mediated RNA trans-splicing (SMaRT) for the correction of inherited skin diseases | Q40664810 |
| | Topical diacerein for epidermolysis bullosa: a randomized controlled pilot study | Q40766444 |
| | Intravenously injected recombinant human type VII collagen homes to skin wounds and restores skin integrity of dystrophic epidermolysis bullosa | Q41868932 |
| | Correction of junctional epidermolysis bullosa by transplantation of genetically modified epidermal stem cells. | Q42504368 |
| | Genome Engineering With Zinc-Finger Nucleases | Q29301748 |
| | Pluripotent stem cells induced from mouse somatic cells by small-molecule compounds | Q29616608 |
| | Arrhythmogenic right ventricular cardiomyopathy/dysplasia: a review and update | Q33159766 |
| | The epidermal Ca(2+) gradient: Measurement using the phasor representation of fluorescent lifetime imaging | Q33696061 |
| | K14 mRNA reprogramming for dominant epidermolysis bullosa simplex. | Q33699579 |
| | Injection of recombinant human type VII collagen corrects the disease phenotype in a murine model of dystrophic epidermolysis bullosa | Q33712943 |
| | Mechanisms of fibroblast cell therapy for dystrophic epidermolysis bullosa: high stability of collagen VII favors long-term skin integrity | Q33713926 |
| | First-in-human mutation-targeted siRNA phase Ib trial of an inherited skin disorder. | Q33730680 |
| | Skin barrier function | Q33744906 |
| | Identification of a deletion in plakoglobin in arrhythmogenic right ventricular cardiomyopathy with palmoplantar keratoderma and woolly hair (Naxos disease). | Q33910305 |
| | Induced pluripotent stem cells from individuals with recessive dystrophic epidermolysis bullosa | Q34120479 |
| | Alpha 6 beta 4 integrin abnormalities in junctional epidermolysis bullosa with pyloric atresia. | Q34184714 |
| | Identification of mutations in a new gene encoding a FERM family protein with a pleckstrin homology domain in Kindler syndrome | Q34187407 |
| | Bone marrow transplantation for recessive dystrophic epidermolysis bullosa | Q34256616 |
| | Desmosome assembly and dynamics | Q34360181 |
| | Desmoglein as a target in skin disease and beyond | Q34634515 |
| | Insights from a desmoplakin mutation identified in lethal acantholytic epidermolysis bullosa | Q34700774 |
| | PDGFRalpha-positive cells in bone marrow are mobilized by high mobility group box 1 (HMGB1) to regenerate injured epithelia | Q34835916 |
| | Generation of keratinocytes from normal and recessive dystrophic epidermolysis bullosa-induced pluripotent stem cells. | Q35008203 |
| | The role of kindlins in cell biology and relevance to human disease | Q35009381 |
| | Structure, function, and regulation of desmosomes | Q35107942 |
| | Deconstructing the skin: cytoarchitectural determinants of epidermal morphogenesis | Q35759101 |
| | Integrin α3 mutations with kidney, lung, and skin disease | Q35925648 |
| | α6β4 integrin, a master regulator of expression of integrins in human keratinocytes | Q36002939 |
| | Collagen XVII/BP180: a collagenous transmembrane protein and component of the dermoepidermal anchoring complex | Q36273484 |
| | Novel roles for alpha3beta1 integrin as a regulator of cytoskeletal assembly and as a trans-dominant inhibitor of integrin receptor function in mouse keratinocytes | Q36290617 |
| | Prenatal diagnosis for severe inherited skin disorders: 25 years' experience. | Q36364756 |
| | Plakophilins: Multifunctional proteins or just regulators of desmosomal adhesion? | Q36502190 |
| | A hypomorphic mouse model of dystrophic epidermolysis bullosa reveals mechanisms of disease and response to fibroblast therapy | Q36512219 |
| | Desmoglein-1, differentiation, and disease | Q36733524 |
| | Intermediate filament scaffolds fulfill mechanical, organizational, and signaling functions in the cytoplasm | Q36868091 |
| | TALEN-based gene correction for epidermolysis bullosa. | Q36915141 |
| | Loss of desmocollin 3 in mice leads to epidermal blistering | Q37138245 |
| | Mesenchymal stem cells in tissue repair | Q37142817 |
| P433 | issue | 2 | |
| P407 | language of work or name | English | Q1860 |
| P921 | main subject | skin disease | Q949302 |
| P304 | page(s) | 49-61 | |
| P577 | publication date | 2014-01-22 | |
| P1433 | published in | Annals of Medicine | Q4767853 |
| P1476 | title | Inherited blistering skin diseases: underlying molecular mechanisms and emerging therapies | |
| P478 | volume | 46 | |