scholarly article | Q13442814 |
review article | Q7318358 |
P356 | DOI | 10.1172/JCI115938 |
P953 | full work available at URL | https://europepmc.org/articles/PMC329917 |
https://europepmc.org/articles/PMC329917?pdf=render | ||
P932 | PMC publication ID | 329917 |
P698 | PubMed publication ID | 1381721 |
P5875 | ResearchGate publication ID | 21773434 |
P2093 | author name string | A. M. Christiano | |
J. Uitto | |||
P2860 | cites work | Isolation of complementary DNA for bullous pemphigoid antigen by use of patients' autoantibodies | Q24338971 |
Human type VII collagen: cDNA cloning and chromosomal mapping of the gene | Q24563646 | ||
Mapping of epidermolysis bullosa simplex mutation to chromosome 12 | Q24678417 | ||
The human gene (DSG3) coding for the pemphigus vulgaris antigen is, like the genes coding for the other two known desmogleins, assigned to chromosome 18 | Q28261313 | ||
Bullous pemphigoid antigen (BPAG1): cDNA cloning and mapping of the gene to the short arm of human chromosome 6 | Q28270487 | ||
Human bullous pemphigoid antigen (BPAG1). Amino acid sequences deduced from cloned cDNAs predict biologically important peptide segments and protein domains | Q28279432 | ||
Epidermolysis Bullosa Simplex: Evidence in Two Families for Keratin Gene Abnormalities | Q28281844 | ||
Genomic organization of collagenous domains and chromosomal assignment of human 180-kDa bullous pemphigoid antigen-2, a novel collagen of stratified squamous epithelium | Q28301108 | ||
Isolation of a human epidermal cDNA corresponding to the 180-kD autoantigen recognized by bullous pemphigoid and herpes gestationis sera. Immunolocalization of this protein to the hemidesmosome | Q33258222 | ||
Alpha 6 beta 4 integrin heterodimer is a component of hemidesmosomes | Q33899956 | ||
Exclusion of linkage between the collagenase gene and generalized recessive dystrophic epidermolysis bullosa phenotype | Q34210703 | ||
Linkage of epidermolytic hyperkeratosis to the type II keratin gene cluster on chromosome 12q | Q34211913 | ||
Identification of two collagen domains within the bullous pemphigoid autoantigen, BP180 | Q34238421 | ||
Pemphigus and pemphigoid as paradigms of organ-specific, autoantibody-mediated diseases | Q34571677 | ||
Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: Genetic and functional analyses | Q34591440 | ||
Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa | Q35196848 | ||
Molecular biology and pathology of type VII collagen | Q35247940 | ||
Epidermolysis bullosa acquisita antigen is the globular carboxyl terminus of type VII procollagen | Q35585890 | ||
Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils | Q35599586 | ||
Autoantibodies against the amino-terminal cadherin-like binding domain of pemphigus vulgaris antigen are pathogenic | Q35821901 | ||
Distribution patterns of type VII collagen in normal and malignant human tissues | Q35830405 | ||
Seminars in medicine of the Beth Israel Hospital, Boston. Mutations in collagen genes as a cause of connective-tissue diseases | Q36747241 | ||
Tissue culture of human epidermal keratinocytes: a differentiating model system for gene testing and somatic gene therapy | Q36851670 | ||
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 new basement membrane antigen recognized by the monoclonal antibody GB3 is a large size glycoprotein: modulation of its expression by retinoic acid | Q38346925 | ||
Structure, development, and molecular pathology of basement membranes | Q39748942 | ||
Transforming growth factor-beta up-regulates type VII collagen gene expression in normal and transformed epidermal keratinocytes in culture | Q41660060 | ||
Epiligrin, a new cell adhesion ligand for integrin alpha 3 beta 1 in epithelial basement membranes | Q41683771 | ||
Kalinin: an epithelium-specific basement membrane adhesion molecule that is a component of anchoring filaments | Q41964164 | ||
The coiled coil of in vitro assembled keratin filaments is a heterodimer of type I and II keratins: use of site-specific mutagenesis and recombinant protein expression | Q42038677 | ||
Mutant keratin expression in transgenic mice causes marked abnormalities resembling a human genetic skin disease | Q42466203 | ||
Genetic immunization is a simple method for eliciting an immune response | Q43857336 | ||
Treatment of junctional epidermolysis bullosa with epidermal autografts | Q45201867 | ||
The relationship of the biophysical and biochemical characteristics of type VII collagen to the function of anchoring fibrils. | Q52483122 | ||
Symposium on epidermolysis bullosa: molecular biology and pathology of the cutaneous basement membrane zone. Jefferson Medical College, Philadelphia, Pennsylvania, October 4 and 5, 1991 | Q68071110 | ||
Collagenase in recessive dystrophic epidermolysis bullosa | Q70136597 | ||
P433 | issue | 3 | |
P407 | language of work or name | English | Q1860 |
P921 | main subject | molecular genetics | Q210506 |
epidermolysis bullosa | Q923020 | ||
P304 | page(s) | 687-692 | |
P577 | publication date | 1992-09-01 | |
P1433 | published in | Journal of Clinical Investigation | Q3186904 |
P1476 | title | Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases | |
P478 | volume | 90 |
Q38346848 | A GT-rich sequence binding the transcription factor Sp1 is crucial for high expression of the human type VII collagen gene (COL7A1) in fibroblasts and keratinocytes |
Q51504143 | A case of dystrophic epidermolysis bullosa: surgical treatment for hand contracture using abdominal skin flap. |
Q28270168 | A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa |
Q36382518 | A recombinant tail-less integrin beta 4 subunit disrupts hemidesmosomes, but does not suppress alpha 6 beta 4-mediated cell adhesion to laminins. |
Q37082009 | Amelioration of epidermolysis bullosa by transfer of wild-type bone marrow cells |
Q30650123 | Aminoglycosides restore full-length type VII collagen by overcoming premature termination codons: therapeutic implications for dystrophic epidermolysis bullosa. |
Q41452411 | Basement-membrane stromal relationships: interactions between collagen fibrils and the lamina densa |
Q36438308 | Basic fibroblast growth factor: a missing link between collagen VII, increased collagenase, and squamous cell carcinoma in recessive dystrophic epidermolysis bullosa |
Q58058165 | Chapter 8 Extracellular matrix |
Q24315966 | Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa |
Q52526907 | Collagen VII expression in human chronic wounds and scars. |
Q40853815 | Collagens and their abnormalities in a wide spectrum of diseases |
Q24675846 | Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition |
Q71708643 | Cytokine gene expression in epidermis with biological effects following injection of naked DNA |
Q40878358 | Development and characterization of a recombinant truncated type VII collagen "minigene". Implication for gene therapy of dystrophic epidermolysis bullosa |
Q40872692 | Dohi memorial lecture. Clinical implications of basic research on heritable skin diseases |
Q24312098 | Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen |
Q34140802 | Elevated expression of type VII collagen in the skin of patients with systemic sclerosis. Regulation by transforming growth factor-beta |
Q40392062 | Epidermolysis Bullosa: Pathogenetic Pathways from Mutations to Symptoms |
Q24678450 | Epidermolysis bullosa with pyloric atresia: novel mutations in the beta4 integrin gene (ITGB4) |
Q41633647 | Epidermolysis bullosa: a spectrum of clinical phenotypes explained by molecular heterogeneity |
Q40399909 | Epidermolysis bullosa: hereditary skin fragility diseases as paradigms in cell biology |
Q35824190 | Epidermolytic hyperkeratosis (bullous congenital ichthyosiform erythroderma). Genetic linkage to chromosome 12q in the region of the type II keratin gene cluster |
Q33904940 | Epitope mapping of type VII collagen. Identification of discrete peptide sequences recognized by sera from patients with acquired epidermolysis bullosa |
Q90602418 | Expression of Laminin 332 in Vesicant Skin Injury and Wound Repair |
Q35023324 | Generation of 3D skin equivalents fully reconstituted from human induced pluripotent stem cells (iPSCs). |
Q34128047 | Herlitz junctional epidermolysis bullosa keratinocytes display heterogeneous defects of nicein/kalinin gene expression |
Q28298121 | Identification of a leucine-to-proline mutation in the keratin 5 gene in a family with the generalized Köbner type of epidermolysis bullosa simplex |
Q52676772 | Identification of novel enriched recurrent chimeric COL7A1-UCN2 in human laryngeal cancer samples using deep sequencing. |
Q39178646 | In vitro analysis of photosensitizer accumulation for assessment of applicability of fluorescence diagnosis of squamous cell carcinoma of epidermolysis bullosa patients |
Q33712943 | Injection of recombinant human type VII collagen corrects the disease phenotype in a murine model of dystrophic epidermolysis bullosa |
Q45876048 | Injection of recombinant human type VII collagen restores collagen function in dystrophic epidermolysis bullosa |
Q42487637 | Interferon-gamma-mediated inactivation of transcription of the 230-kDa bullous pemphigoid antigen gene (BPAG1) provides novel insight into keratinocyte differentiation |
Q45877035 | Intradermal injection of lentiviral vectors corrects regenerated human dystrophic epidermolysis bullosa skin tissue in vivo |
Q40704596 | Intravenously Administered Recombinant Human Type VII Collagen Derived from Chinese Hamster Ovary Cells Reverses the Disease Phenotype in Recessive Dystrophic Epidermolysis Bullosa Mice. |
Q34071975 | Laminins and human disease |
Q40705517 | Low-dose methotrexate treatment in elderly patients with bullous pemphigoid |
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) |
Q34412417 | Molecular complexity of the cutaneous basement membrane zone |
Q34319775 | Murine muscular dystrophy caused by a mutation in the laminin alpha 2 (Lama2) gene |
Q54557716 | Mutation analyses of COL7A1 gene in three Taiwanese patients with severe recessive dystrophic epidermolysis bullosa. |
Q33657782 | Mutation analysis and molecular genetics of epidermolysis bullosa |
Q24308020 | Mutations in the 180-kD bullous pemphigoid antigen (BPAG2), a hemidesmosomal transmembrane collagen (COL17A1), in generalized atrophic benign epidermolysis bullosa |
Q28243912 | Mutations in the gamma 2 chain gene (LAMC2) of kalinin/laminin 5 in the junctional forms of epidermolysis bullosa |
Q40789915 | Non-infectious diseases of the oral soft tissue: a new approach |
Q36610899 | Novel molecular therapies for heritable skin disorders |
Q24562156 | Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa |
Q36437677 | Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1) |
Q35910642 | Progress in epidermolysis bullosa: genetic classification and clinical implications |
Q37499984 | Progress in heritable skin diseases: translational implications of mutation analysis and prospects of molecular therapies*. |
Q35855573 | The cartilage matrix protein subdomain of type VII collagen is pathogenic for epidermolysis bullosa acquisita. |
Q34355367 | The genetics of human skin disease |
Q41948258 | The intracellular functions of alpha6beta4 integrin are regulated by EGF. |
Q73109070 | The role of immunohistochemistry in the diagnosis of the non-lethal forms of junctional epidermolysis bullosa |
Q58068797 | The tylosis esophageal cancer (Toc) locus: more than just a familial cancer gene* |
Q42484455 | Tissue-specific expression of the 230-kDa bullous pemphigoid antigen gene (BPAG1). Identification of a novel keratinocyte regulatory cis-element KRE3. |
Q41815771 | Topical application of recombinant type VII collagen incorporates into the dermal-epidermal junction and promotes wound closure |
Q30427003 | Zebrafish: a model system to study heritable skin diseases |