| scholarly article | Q13442814 |
| P356 | DOI | 10.1038/NG1193-287 |
| P698 | PubMed publication ID | 8275094 |
| P2093 | author name string | Goossens M | |
| Martin N | |||
| Christiano AM | |||
| Wechsler J | |||
| Uitto J | |||
| Barrandon Y | |||
| Duquesnoy P | |||
| Rochat A | |||
| Blanchet-Bardon C | |||
| Hilal L | |||
| P2860 | cites work | DNA sequencing with chain-terminating inhibitors | Q22066207 |
| Human type VII collagen: cDNA cloning and chromosomal mapping of the gene | Q24563646 | ||
| Single-Step Method of RNA Isolation by Acid Guanidinium Thiocyanate–Phenol–Chloroform Extraction | Q25938986 | ||
| A mutation in the conserved helix termination peptide of keratin 5 in hereditary skin blistering | Q28186252 | ||
| The large non-collagenous domain (NC-1) of type VII collagen is amino-terminal and chimeric. Homology to cartilage matrix protein, the type III domains of fibronectin and the A domains of von Willebrand factor | Q28208428 | ||
| Noncollagenous (NC1) domain of collagen VII resembles multidomain adhesion proteins involved in tissue-specific organization of extracellular matrix | Q28235861 | ||
| A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa | Q28270168 | ||
| Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene Abnormalities | Q28281844 | ||
| Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex | Q28298121 | ||
| Molecular cloning and characterization of type VII collagen cDNA | Q28304519 | ||
| Serial cultivation of strains of human epidermal keratinocytes: the formation of keratinizing colonies from single cells | Q29614425 | ||
| A rapid procedure for extracting genomic DNA from leukocytes | Q33530255 | ||
| Nonsense mutations in the human beta-globin gene affect mRNA metabolism | Q33562164 | ||
| Linkage of autosomal dominant dystrophic epidermolysis bullosa in three British families to the marker D3S2 close to the COL7A1 locus | Q33594092 | ||
| Single base mutation in the pro alpha 2(I) collagen gene that causes efficient splicing of RNA from exon 27 to exon 29 and synthesis of a shortened but in-frame pro alpha 2(I) chain | Q33633029 | ||
| Generation of single-stranded DNA by the polymerase chain reaction and its application to direct sequencing of the HLA-DQA locus | Q33655616 | ||
| A missense mutation in the rod domain of keratin 14 associated with recessive epidermolysis bullosa simplex. | Q34292865 | ||
| Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression | Q34362040 | ||
| Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses | Q34591440 | ||
| Type VII collagen gene expression by cultured human cells and in fetal skin. Abundant mRNA and protein levels in epidermal keratinocytes | Q35596318 | ||
| Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils | Q35599586 | ||
| Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene | Q35822369 | ||
| Revised clinical and laboratory criteria for subtypes of inherited epidermolysis bullosa. A consensus report by the Subcommittee on Diagnosis and Classification of the National Epidermolysis Bullosa Registry | Q37648655 | ||
| The structure and function of type VII collagen | Q37922168 | ||
| The carboxyl-terminal domain of type VII collagen is present at the basement membrane in recessive dystrophic epidermolysis bullosa | Q41292314 | ||
| Type VII collagen is a major structural component of anchoring fibrils | Q41511070 | ||
| Evaluation of anchoring fibrils and other components of the dermal-epidermal junction in dystrophic epidermolysis bullosa by a quantitative ultrastructural technique | Q42436468 | ||
| Intra-epidermal retention of type VII collagen in a patient with recessive dystrophic epidermolysis bullosa | Q42483496 | ||
| Type VII collagen is expressed but anchoring fibrils are defective in dystrophic epidermolysis bullosa inversa | Q46325292 | ||
| Genetic Linkage Between the Collagen VII (COL7A1) Gene and the Autosomal Dominant Form of Dystrophic Epidermolysis Bullosa in Two Dutch Kindreds | Q57949122 | ||
| Kalinin is abnormally expressed in epithelial basement membranes of Herlitz's junctional epidermolysis bullosa patients | Q61894142 | ||
| Keratinocytes and Fibroblasts from a Patient with Mutilating Dystrophic Epidermolysis Bullosa Synthesize Drastically Reduced Amounts of Collagen VII: Lack of Effect of Transforming Growth Factor-β | Q67466063 | ||
| Ultrastructural studies in epidermolysis bullosa hereditaria. III. Recessive dystrophic types with dermolytic blistering (Hallopeau-Siemens types and inverse type) | Q67806138 | ||
| Type VII collagen is a normal component of epidermal basement membrane, which shows altered expression in recessive dystrophic epidermolysis bullosa | Q68134288 | ||
| Lack of type VII collagen in unaffected skin of patients with severe recessive dystrophic epidermolysis bullosa | Q68139493 | ||
| Identification of an epidermal basement membrane defect in recessive forms of dystrophic epidermolysis bullosa by LH 7:2 monoclonal antibody: use in diagnosis | Q68893774 | ||
| Anchoring fibrils and type VII collagen are absent from skin in severe recessive dystrophic epidermolysis bullosa | Q69653216 | ||
| The skipping of constitutive exons in vivo induced by nonsense mutations | Q70554031 | ||
| P433 | issue | 3 | |
| P921 | main subject | homozygosity | Q114049690 |
| epidermolysis bullosa | Q923020 | ||
| P304 | page(s) | 287-293 | |
| P577 | publication date | 1993-11-01 | |
| P1433 | published in | Nature Genetics | Q976454 |
| P1476 | title | A homozygous insertion-deletion in the type VII collagen gene (COL7A1) in Hallopeau-Siemens dystrophic epidermolysis bullosa | |
| P478 | volume | 5 |
| Q36512219 | A hypomorphic mouse model of dystrophic epidermolysis bullosa reveals mechanisms of disease and response to fibroblast therapy |
| Q36099630 | A second locus for Marfan syndrome maps to chromosome 3p24.2-p25. |
| Q35483739 | A single epidermal stem cell strategy for safe ex vivo gene therapy. |
| Q40812462 | BP180 gene delivery in junctional epidermolysis bullosa |
| Q33657788 | Biology of anchoring fibrils: lessons from dystrophic epidermolysis bullosa |
| Q35249597 | Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation |
| Q57263791 | Complex gene rearrangements caused by serial replication slippage |
| Q35881857 | Compound heterozygosity for COL7A1 mutations in twins with dystrophic epidermolysis bullosa: a recessive paternal deletion/insertion mutation and a dominant negative maternal glycine substitution result in a severe phenotype |
| Q28288703 | Detection of sequence variants in the gene encoding the beta 3 chain of laminin 5 (LAMB3) |
| Q70821510 | Diminished expression of the extracellular domain of bullous pemphigoid antigen 2 (BPAG2) in the epidermal basement membrane of patients with generalized atrophic benign epidermolysis bullosa |
| Q24312098 | Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen |
| Q88625907 | Efficacy of Human Placental-Derived Stem Cells in Collagen VII Knockout (Recessive Dystrophic Epidermolysis Bullosa) Animal Model |
| Q40392062 | Epidermolysis Bullosa: Pathogenetic Pathways from Mutations to Symptoms |
| Q40399909 | Epidermolysis bullosa: hereditary skin fragility diseases as paradigms in cell biology |
| Q96124009 | Exposed CendR Domain in Homing Peptide Yields Skin-Targeted Therapeutic in Epidermolysis Bullosa |
| Q96304075 | Gene editing in dermatology: Harnessing CRISPR for the treatment of cutaneous disease |
| Q34258806 | Gene mutations, great expectations |
| Q33675218 | Genetic linkage to the type VII collagen gene (COL7A1) in 26 families with generalised recessive dystrophic epidermolysis bullosa and anchoring fibril abnormalities |
| Q35881816 | Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance. |
| Q33668572 | Hereditary skin diseases of anchoring fibrils |
| Q35881950 | Identification of two splicing mutations in the collagen type VII gene (COL7A1) of a patient affected by the localisata variant of recessive dystrophic epidermolysis bullosa. |
| Q36382726 | Immunohistochemical and mutation analyses demonstrate that procollagen VII is processed to collagen VII through removal of the NC-2 domain |
| Q38634647 | Keratin gene mutations in human skin disease |
| Q37462643 | Keratinocyte-/fibroblast-targeted rescue of Col7a1-disrupted mice and generation of an exact dystrophic epidermolysis bullosa model using a human COL7A1 mutation |
| Q40511466 | Molecular basis for the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene |
| Q24309362 | Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1) |
| Q38060080 | Molecular heterogeneity of blistering disorders: the paradigm of epidermolysis bullosa |
| Q24562156 | Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa |
| Q34063956 | Recent advances in the molecular basis of inherited skin diseases |
| Q35889613 | Recurrent nonsense mutations within the type VII collagen gene in patients with severe recessive dystrophic epidermolysis bullosa |
| Q32052839 | Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering |
| Q40480328 | The management of dystrophic epidermolysis bullosa |
| Q41120437 | The molecular basis for inherited bullous diseases |
| Q78008244 | Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: analysis of transcript levels in dermal fibroblasts |
| Q37968535 | Unveiling the roots of monogenic genodermatoses: genotrichoses as a paradigm |
| Q33690047 | Update on inherited bullous dermatoses |
| Q33682512 | Use of type VII collagen gene (COL7A1) markers in prenatal diagnosis of recessive dystrophic epidermolysis bullosa |
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