Cloning of human type VII collagen. Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms.

No abstract is available for this paper.

• Publication year

  1994

• Venue

  Journal of Biological Chemistry

• Publication date

  1994-08-12

• Fields of study

  Biology, Medicine

• Identifiers
  PMID 8051117
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Premature termination codons in the type VII collagen gene (COL7A1) underlie severe, mutilating recessive dystrophic epidermolysis bullosa.

  1994cited by this paper
• Dominant dystrophic epidermolysis bullosa: identification of a Gly-->Ser substitution in the triple-helical domain of type VII collagen.

  1994cited by this paper
• Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene.

  1994cited by this paper
• Collagens and their abnormalities in a wide spectrum of diseases.

  1993cited by this paper
• A missense mutation in type VII collagen in two affected siblings with recessive dystrophic epidermolysis bullosa

  1993cited by this paper
• A homozygous insertion–deletion in the type VII collagen gene (COL7A1) in Hallopeau–Siemens dystrophic epidermolysis bullosa

  1993cited by this paper
• cDNA cloning and chromosomal mapping of the mouse type VII collagen gene (Col7a1): evidence for rapid evolutionary divergence of the gene.

  1993cited by this paper
• Structural variations in anchoring fibrils in dystrophic epidermolysis bullosa: correlation with type VII collagen expression.

  1993cited by this paper
• New members of the collagen superfamily.

  1993cited by this paper
• Type VII collagen, anchoring fibrils, and epidermolysis bullosa.

  1993cited by this paper
• DNA-based prenatal diagnosis of heritable skin diseases.

  1993cited by this paper
• Dystrophic forms of epidermolysis bullosa.

  1993cited by this paper
• The carboxyl-terminal half of type VII collagen, including the non-collagenous NC-2 domain and intron/exon organization of the corresponding region of the COL7A1 gene.

  1993cited by this paper
• Genetic linkage of type VII collagen (COL7A1) to dominant dystrophic epidermolysis bullosa in families with abnormal anchoring fibrils.

  1992cited by this paper
• Molecular genetics of the cutaneous basement membrane zone. Perspectives on epidermolysis bullosa and other blistering skin diseases.

  1992cited by this paper
• Noncollagenous (NC1) domain of collagen VII resembles multidomain adhesion proteins involved in tissue-specific organization of extracellular matrix.

  1992cited by this paper
• Genetic linkage of recessive dystrophic epidermolysis bullosa to the type VII collagen gene.

  1992cited by this paper
• 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.

  1992cited by this paper
• PCR-based detection of two exonic polymorphisms in the human type VII collagen gene (COL7A1) at 3p21.1.

  1992cited by this paper
• 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.

  1991cited by this paper
• Human type VII collagen: cDNA cloning and chromosomal mapping of the gene.

  1991cited by this paper
• Collagen family of proteins

  1991cited by this paper
• Human type VII collagen: genetic linkage of the gene (COL7A1) on chromosome 3 to dominant dystrophic epidermolysis bullosa.

  1991cited by this paper
• Cleavage of type VII collagen by interstitial collagenase and type IV collagenase (gelatinase) derived from human skin.

  1989cited by this paper
• Improved tools for biological sequence comparison.

  1988cited by this paper
• New perspectives in cell adhesion: RGD and integrins.

  1987cited by this paper
• The tissue form of type VII collagen is an antiparallel dimer.

  1986cited by this paper
• Primary structural requirements for the enzymatic formation of the N-glycosidic bond in glycoproteins. Studies with natural and synthetic peptides.

  1979cited by this paper
• DNA sequencing with chain-terminating inhibitors.

  1977cited by this paper

• Genotype-Phenotype Correlations in Recessive Dystrophic Epidermolysis Bullosa: A Systematic Review.

  2026cites this paper
• Dystrophic Epidermolysis Bullosa - from biochemistry to interventions.

  2025cites this paper
• Two sisters with recessive dystrophic epidermolysis bullosa caused by novel variants in COL7A1

  2024cites this paper
• Gene-edited cells: novel allogeneic gene/cell therapy for epidermolysis bullosa

  2024cites this paper
• Self‐improving dystrophic epidermolysis bullosa with a novel heterozygous missense variant in the COL7A1 gene in a Taiwanese family

  2024cites this paper
• Identification of novel small molecule-based strategies of COL7A1 upregulation and readthrough activity for the treatment of recessive dystrophic epidermolysis bullosa

  2024cites this paper
• A homozygous nonsense mutation identified in COL7A1 in a family with autosomal recessive dystrophic epidermolysis bullosa

  2024cites this paper
• Current Treatment Landscape for Dystrophic Epidermolysis Bullosa: From Surgical Management to Emerging Gene Therapies and Novel Skin Grafts.

  2023cites this paper
• Heterozygous variants of NOD2, IL10RA, PLA2G6 and COL7A1 correlate with Crohn's disease

  2023cites this paper
• Synergistic effects of Heterozygous variants of NOD2, IL10RA, PLA2G6 and COL7A1 causative an extreme early-onset and severe Crohn’s disease

  2022cites this paper
• A rare homozygous missense mutation of COL7A1 in a Vietnamese family

  2022cites this paper
• Characterization of mutant type VII collagens underlying the inversa subtype of recessive dystrophic epidermolysis bullosa.

  2021cites this paper
• Future Perspectives of Oral Delivery of Next Generation Therapies for Treatment of Skin Diseases

  2021cites this paper
• Single glycine deletion in COL7A1 acting as glycine substitution in dystrophic epidermolysis bullosa

  2021cites this paper
• A Review of Acquired Autoimmune Blistering Diseases in Inherited Epidermolysis Bullosa: Implications for the Future of Gene Therapy

  2021cites this paper
• Skin Blistering and Collagens: From Bench to Therapies

  2021cites this paper
• Apparent Missense Mutation in COL7A1 Causes a Severe Form of Recessive Dystrophic Epidermolysis Bullosa via Effects on Splicing

  2020cites this paper
• A rare case of COL71A1 heterozygous mutations resulting in neonatal dystrophic epidermolysis bullosa

  2020cites this paper
• Epidermólise bolhosa hereditária: atualização dos aspectos clínicos e genéticos

  2020cites this paper
• Genotype‐phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review

  2020cites this paper
• Subepidermal Bullous Dermatoses

  2020cites this paper
• Toward Combined Cell and Gene Therapy for Genodermatoses.

  2020cites this paper
• Inherited epidermolysis bullosa: update on the clinical and genetic aspects☆☆☆

  2020cites this paper
• Minor collagens of the skin with not so minor functions

  2019influential citation
• Gene Therapy for Epidermolysis Bullosa.

  2019cites this paper
• Collagen VII Expression Is Required in Both Keratinocytes and Fibroblasts for Anchoring Fibril Formation in Bilayer Engineered Skin Substitutes

  2019cites this paper
• Type VII collagen

  2019cites this paper
• Aus der Klinik für Dermatologie und Allergologie Geschäftsführender Direktor: Prof. Dr. med. Michael Hertl des Fachbereichs Medizin der Philipps-Universität Marburg Development and validation of serological immunoassays in laminin γ-1 pemphigoid and epidermolysis bullosa acquisita Inaugural-Diss

  2019cites this paper
• Underlying molecular genetic defects of the Dystrophic Epidermolysis Bullosa Diseases in Hail, Saudi Arabia and literature review

  2019cites this paper
• Epidermal aspects of type VII collagen: Implications for dystrophic epidermolysis bullosa and epidermolysis bullosa acquisita

  2018cites this paper
• Dominant dystrophic epidermolysis bullosa pruriginosa with a COL7A1 exon 87 c.6898C>T mutation

  2018cites this paper
• Bart’s Syndrome with Novel Frameshift Mutations in the COL7A1 Gene

  2018cites this paper
• CRISPR/Cas9-Based Cellular Engineering for Targeted Gene Overexpression

  2018cites this paper
• University of Dundee Lysyl hydroxylase 3 localizes to epidermal basement membrane and Is reduced in patients with Recessive Dystrophic Epidermolysis

  2017cites this paper
• Allogeneic cell-based therapies for individuals with recessive dystrophic epidermolysis bullosa

  2017influential citation
• Chapter 2 Historical perspective on dystrophic epidermolysis bullosa

  2017cites this paper
• Épidermolyses bulleuses héréditaires

  2017cites this paper
• A Novel COL7A1 Mutation in a Chinese Family with Epidermolysis Bullosa Pruriginosa.

  2017cites this paper
• Serological diagnostics in the detection of IgG autoantibodies against human collagen VII in epidermolysis bullosa acquisita: a multicentre analysis

  2017cites this paper
• Acquired Epidermolysis Bullosa and Linear Immunoglobulin A Bullous Dermatosis

  2017influential citation
• Gene editing toward the use of autologous therapies in recessive dystrophic epidermolysis bullosa.

  2016cites this paper
• Chapter 13 – Type XIII Collagen

  2016cites this paper
• Dystrophic epidermolysis bullosa: a review

  2015cites this paper
• [Recessive epidermolysis bullosa due to composite heterozygote mutations in the COL7A1 gene].

  2015cites this paper
• The life course development of non-cognitive skills and health inequalities

  2015influential citation
• Most common diseases and ailments of feet – prevention and treatment . Part I . Najczęstsze schorzenia i dolegliwości stóp – profilaktyka i leczenie .

  2015cites this paper
• Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa

  2015cites this paper
• COL7A1 and Its Role in Dystrophic Epidermolysis Bullosa

  2015cites this paper
• Épidermolyse bulleuse héréditaire dystrophique par hétérozygotie composite COL7A1

  2015cites this paper
• Aplasia cutis congenita with dystrophic epidermolysis bullosa: clinical and mutational study

  2014cites this paper
• Case report. Novel and recurrent COL7A1 mutations in Chinese patients with dystrophic epidermolysis bullosa pruriginosa.

  2014cites this paper
• The hinge region of type VII collagen is intrinsically disordered.

  2014cites this paper
• Beyond branching: multiknot structured polymer for gene delivery.

  2014cites this paper
• Blister-inducing antibodies target multiple epitopes on collagen VII in mice

  2014cites this paper
• Seafood Processing By-products: Collagen and Gelatin

  2014cites this paper
• Most common diseases and ailments of feet - prevention and treatment. Part II Najczęstsze schorzenia i dolegliwości stóp - profilaktyka i leczenie. Część II

  2014cites this paper
• Tissue engineering of tumor stromal microenvironment with application to cancer cell invasion.

  2014cites this paper
• The genetics of human skin disease.

  2014influential citation
• Gene therapy: pursuing restoration of dermal adhesion in recessive dystrophic epidermolysis bullosa

  2014cites this paper
• Dystrophic epidermolysis bullosa : novel insights into the genotype-phenotype correlation and somatic mosaicism

  2013cites this paper
• Gene Therapy for the COL 7 A 1 Gene

  2013cites this paper
• Epidermolysis bullosa acquisita

  2013cites this paper
• Intravenously Injected Recombinant Human Type VII Collagen Homes to Skin Wounds and Restores Skin Integrity of Dystrophic Epidermolysis Bullosa

  2013cites this paper
• Epidermolysis bullosa acquisita

  2013cites this paper
• Two Novel Mutations on Exon 8 and Intron 65 of COL7A1 Gene in Two Chinese Brothers Result in Recessive Dystrophic Epidermolysis Bullosa

  2012cites this paper
• Remodeling of the Dermal–Epidermal Junction in Bilayered Skin Constructs After Silencing the Expression of the p.R2622Q and p.G2623C Collagen VII Mutants

  2012cites this paper
• Elucidating the biological role of autologous derived platelet-rich plasma gel in the treatment of chronic diabetic foot ulcers

  2012cites this paper
• An Incompletely Penetrant Col7a1 Mutation Causes Dystrophic Epidermolysis Bullosa And Epidermolysis Bullosa Pruriginosa

  2012cites this paper
• Molecular markers for progression of squamous cell carcinoma of the skin

  2012cites this paper
• Identification of OATP1B3 as a potential therapeutic target in Recessive Dystrophic Epidermolysis Bullosa Associated Squamous Cell Carcinoma

  2011cites this paper
• Functional correction of type VII collagen expression in dystrophic epidermolysis bullosa.

  2011cites this paper
• Pregnancy after PGD for recessive dystrophic epidermolysis bullosa inversa: genetics and preimplantation genetics

  2011cites this paper
• Dystrophic epidermolysis bullosa pruriginosa of elderly onset

  2011cites this paper
• The international dystrophic epidermolysis bullosa patient registry: An online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations

  2011cites this paper
• Mutation mechanisms.

  2010cites this paper
• X-Linked Ichthyosis along with Recessive Dystrophic Epidermolysis Bullosa in the Same Patient

  2010cites this paper
• The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen

  2010cites this paper
• Long-Term Type VII Collagen Restoration to Human Epidermolysis Bullosa Skin Tissue

  2010cites this paper
• Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa.

  2010cites this paper
• Inversa dystrophic epidermolysis bullosa is caused by missense mutations at specific positions of the collagenic domain of collagen type VII.

  2010cites this paper
• McMillanJR,LongHA,AkiyamaM,ShimizuH&KimbleRM

  2009cites this paper
• Collagen mRNA levels changes during colorectal cancer carcinogenesis

  2009cites this paper
• Long-term follow-up of patients with recessive dystrophic epidermolysis bullosa in the Netherlands: expansion of the mutation database and unusual phenotype-genotype correlations.

  2009cites this paper
• Epidermolysis bullosa dystrophica. From clinics to genetics

  2009cites this paper
• Type VII Collagen Gene Mutations (c.8569G>T and c.4879G>A) Result in the Moderately Severe Phenotype of Recessive Dystrophic Epidermolysis Bullosa in a Korean Patient

  2009cites this paper
• Design and Validation of a Conformation-Sensitive Capillary Electrophoresis System for Mutation Identification of the COL7A1 Gene with Automated Peak Comparison

  2009influential citation
• Injection of recombinant human type VII collagen corrects the disease phenotype in a murine model of dystrophic epidermolysis bullosa.

  2009cites this paper
• A splicing mutation in the COL7A1 gene causes autosomal dominant dystrophic epidermolysis bullosa pruriginosa

  2008cites this paper
• Anatomy and Organization of Human Skin

  2008cites this paper
• Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa

  2008cites this paper
• Supramolecular Interactions in the Dermo-epidermal Junction Zone

  2008cites this paper
• Characterization of Molecular Mechanisms Underlying Mutations in Dystrophic Epidermolysis Bullosa Using Site-directed Mutagenesis*

  2008cites this paper
• Genotype-phenotype correlations in six Japanese patients with recessive dystrophic epidermolysis bullosa with the recurrent p.Glu2857X mutation.

  2008cites this paper
• A novel p.Gly1700Asp mutation in COL7A1 responsible for dominant dystrophic epidermolysis bullosa: more severe phenotype in female members of a Chinese family.

  2008cites this paper
• Dystrophic Epidermolysis Bullosa with One Dominant and One Recessive Mutation of the COL7A1 Gene in a Child with Deafness

  2008cites this paper
• Genetic Blistering Diseases

  2008cites this paper
• NOVEL COL7A) MUTATIONS OF HALLOPEAU-SIEMENS TYPE RECESSIVE DYSTROPHIC EPIDERMOLYSIS BULLOSA

  2007cites this paper
• The extracellular matrix and blood vessel formation: not just a scaffold

  2007cites this paper
• Cell adhesion proteins and α-fetoprotein. Similar structural motifs as prerequisites for common functions

  2007cites this paper
• GENOTYPE AND PHENOTYPE CORRELATION OF DYSTROPHIC EPIDERMOLYSIS BULLOSA

  2007cites this paper