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Case Report - Epidermolysis bullosa pruriginosa – Report of three cases, 12/2005
Epidermolysis bullosa pruriginosa, a genetic mechanobullous disease, is characterized by pruritus, lichenified or nodular prurigo-like lesions, occasional... 
Dystrophic epidermolysis bullosa, Cryotherapy
Journal
JOURNAL OF NEPAL MEDICAL ASSOCIATION, ISSN 0028-2715, 09/2018, Volume 56, Issue 213, pp. 879 - 882
Epidermolysis bullosa is a rare inherited blistering disease with an incidence of 8-10 per million live births. Dystrophic epidermolysis bullosa is a type of... 
MEDICINE, GENERAL & INTERNAL | PUBLIC, ENVIRONMENTAL & OCCUPATIONAL HEALTH | epidermolysis bullosa | blister | dystrophic epidermolysis bullosa | CLASSIFICATION | knee disarticulation | surgery
Journal Article
Molecular Therapy, ISSN 1525-0016, 11/2017, Volume 25, Issue 11, pp. 2573 - 2584
Designer nucleases allow specific and precise genomic modifications and represent versatile molecular tools for the correction of disease-associated mutations.... 
CRISPR/Cas9 | homology-directed repair | epidermolysis bullosa | COL7A1 | MEDICINE, RESEARCH & EXPERIMENTAL | CRISPR-CAS9 | MINICIRCLE DNA | MECHANISMS | TRANSPLANTATION | PLURIPOTENT STEM-CELLS | REPAIR | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | IN-VIVO | MOUSE MODEL | DISEASE | GENETICS & HEREDITY | GENE-THERAPY | Exons | Humans | Transplantation, Heterologous | Molecular Targeted Therapy | Epidermolysis Bullosa Dystrophica - pathology | Base Sequence | Keratinocytes - transplantation | Collagen Type VII - metabolism | Epidermolysis Bullosa Dystrophica - metabolism | Epidermolysis Bullosa Dystrophica - therapy | Gene Expression | Collagen Type VII - genetics | Treatment Outcome | Plasmids - metabolism | Keratinocytes - pathology | Animals | Keratinocytes - metabolism | Mice, Nude | CRISPR-Cas Systems | Plasmids - chemistry | Gene Editing - methods | High-Throughput Nucleotide Sequencing | Mice | Epidermolysis Bullosa Dystrophica - genetics | Mutation | Primary Cell Culture | Disease | Homology | Transplantation | Genomes | Proteins | Design | Reversion | Next-generation sequencing | Efficiency | Phenotypic reversion | Skin diseases | Nuclease | Localization | Deoxyribonucleic acid--DNA | CRISPR | Epidermolysis bullosa | Cloning | Immunodeficiency | Keratinocytes | Vectors (Biology) | Microscopy | Collagen | Skin | Gene therapy | Binding sites | Dystrophic epidermolysis bullosa | Cas9 | Original
Journal Article
Journal Article
British Journal of Dermatology, ISSN 0007-0963, 03/2019, Volume 180, Issue 3, pp. e64 - e64
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 01/2018, Volume 115, Issue 4, p. E705
Genetic loss of collagen VII causes recessive dystrophic epidermolysis bullosa (RDEB), a skin fragility disorder that, unexpectedly, manifests also with... 
Spleen | Animal models | Epidermolysis bullosa | Collagens | Wounds | Macrophages | Immunity | Lymph nodes | Fragility | Proteins | Collagen | Rodents | Bacteria | Genetics | Extracellular matrix | Skin | Colonization | Dystrophic epidermolysis bullosa | Immune system
Journal Article
ORPHANET JOURNAL OF RARE DISEASES, ISSN 1750-1172, 06/2019, Volume 14, Issue 1, pp. 129 - 12
Journal Article
Actas Dermo-Sifiliograficas, ISSN 0001-7310, 2018, Volume 110, Issue 1, pp. 50 - 52
Dystrophic epidermolysis bullosa is a rare inherited disease caused by mutations in the COL7A1 gene. Its recessive variant (recessive dystrophic epidermolysis... 
Pregnancy | Epidermolysis bullosa | Pregnancy complications | Female | Dystrophic epidermolysis bullosa
Journal Article
Actas Dermo-Sifiliográficas (English Edition), ISSN 1578-2190, 01/2019, Volume 110, Issue 1, pp. 50 - 52
Dystrophic epidermolysis bullosa is a rare inherited disease caused by mutations in the COL7A1 gene. Its recessive variant (recessive dystrophic epidermolysis... 
Pregnancy | Epidermólisis bullosa | Complicaciones del embarazo | Epidermolysis bullosa | Embarazo | Pregnancy complications | Female | Mujer | Dystrophic epidermolysis bullosa | Epidermólisis bullosa distrófica
Journal Article
Journal Article
Molecular Therapy, ISSN 1525-0016, 05/2019, Volume 27, Issue 5, pp. 986 - 998
Gene editing constitutes a novel approach for precisely correcting disease-causing gene mutations. Frameshift mutations in COL7A1 causing recessive dystrophic... 
gene therapy | epidermal stem cells | CRISPR/Cas9 | epidermolysis bullosa | MEDICINE, RESEARCH & EXPERIMENTAL | DIAGNOSIS | CELLS | SAFETY | REGENERATION | TRANSPLANTATION | DELETION | EXON | DATABASE | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | GENETICS & HEREDITY | COL7A1 MUTATION | GENERATION
Journal Article
Pediatric Dermatology, ISSN 0736-8046, 09/2018, Volume 35, Issue 5, pp. e319 - e320
Journal Article
Matrix Biology, ISSN 0945-053X, 08/2019, Volume 81, pp. 3 - 16
Loss-of-function mutations in the gene encoding type VII collagen underlie recessive dystrophic epidermolysis bullosa (RDEB), a disease characterized by skin... 
Disease modifying therapy | Extracellular matrix | Inflammation | Genodermatoses | Skin repair | Fibrosis | BIOCHEMISTRY & MOLECULAR BIOLOGY | BIGLYCAN | GENE-EXPRESSION | VII COLLAGEN | SKIN | CELL BIOLOGY
Journal Article