Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes - Wikidata - wikimedia - TriplyDB

Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes

Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes

http://www.wikidata.org/entity/Q24648149

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Inherited epidermolysis bullosa Lysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis Bullosa Two novel mutations on exon 8 and intron 65 of COL7A1 gene in two Chinese brothers result in recessive dystrophic epidermolysis bullosa Low-level laser therapy for the treatment of epidermolysis bullosa: a case report.Injection of recombinant human type VII collagen corrects the disease phenotype in a murine model of dystrophic epidermolysis bullosa.Induced pluripotent stem cells from individuals with recessive dystrophic epidermolysis bullosa.Rat model for dominant dystrophic epidermolysis bullosa: glycine substitution reduces collagen VII stability and shows gene-dosage effect Pregnancy after PGD for recessive dystrophic epidermolysis bullosa inversa: genetics and preimplantation genetics.Photodynamic therapy for Basal cell carcinoma in recessive dystrophic epidermolysis bullosa Losartan ameliorates dystrophic epidermolysis bullosa and uncovers new disease mechanisms Bicodon bias can determine the role of synonymous SNPs in human diseases.A hypomorphic mouse model of dystrophic epidermolysis bullosa reveals mechanisms of disease and response to fibroblast therapy.Anchorless keratinocyte survival: an emerging pathogenic mechanism for squamous cell carcinoma in recessive dystrophic epidermolysis bullosa.Common interruptions in the repeating tripeptide sequence of non-fibrillar collagens: sequence analysis and structural studies on triple-helix peptide models.Oral manifestations in the epidermolysis bullosa spectrum.Keratinocyte-/fibroblast-targeted rescue of Col7a1-disrupted mice and generation of an exact dystrophic epidermolysis bullosa model using a human COL7A1 mutation.Fluorescent protein markers to tag collagenous proteins: the paradigm of procollagen VII.Epidermolysis bullosa with pyloric atresia.Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa.Treatment of hereditary epidermolysis bullosa: updates and future prospects.Inherited blistering skin diseases: underlying molecular mechanisms and emerging therapies.Proteases and proteomics: cutting to the core of human skin pathologies.Epidermolysis bullosa in animals: a review.Recessive dystrophic epidermolysis bullosa: a review of disease pathogenesis and update on future therapies.A novel deletion and two recurrent substitutions on type VII collagen gene in seven Iranian patients with epidermolysis bullosa.Intraepidermal Type VII Collagen by Immunofluorescence Mapping: A Specific Finding for Bullous Dermolysis of the Newborn.Characterization of molecular mechanisms underlying mutations in dystrophic epidermolysis bullosa using site-directed mutagenesis.Transient bullous dermolysis of the newborn: a novel de novo mutation in the COL7A1 gene.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.SIN retroviral vectors expressing COL7A1 under human promoters for ex vivo gene therapy of recessive dystrophic epidermolysis bullosa.Collagen VII plays a dual role in wound healing.Protein therapeutics for junctional epidermolysis bullosa: incorporation of recombinant beta3 chain into laminin 332 in beta3-/- keratinocytes in vitro.The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.Remodeling of the dermal-epidermal junction in bilayered skin constructs after silencing the expression of the p.R2622Q and p.G2623C collagen VII mutants.Increased invasive behaviour in cutaneous squamous cell carcinoma with loss of basement-membrane type VII collagen.Novel deletion mutation (c.3717del5) in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa.Vascular access for chronic hemodialysis in a patient with epidermolysis bullosa dystrophica Hallopeau-Siemens.Compound heterozygosity of the novel -186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa.Congenital dystrophic epidermolysis bullosa (DEB) in Sprague Dawley rats: a case series.A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa.

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Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes

http://www.wikidata.org/entity/Q24648149

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2007 nî lūn-bûn

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2007 թուականի Մարտին հրատարակուած գիտական յօդուած

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2007 թվականի մարտին հրատարակված գիտական հոդված

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Roslyn Varki

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Sara Sadowski

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P2860

Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa

Mutation report: complete paternal uniparental isodisomy of chromosome 1: a novel mechanism for Herlitz junctional epidermolysis bullosa

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

Interactions of the amino-terminal noncollagenous (NC1) domain of type VII collagen with extracellular matrix components. A potential role in epidermal-dermal adherence in human skin

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

Structural organization of the human type VII collagen gene (COL7A1), composed of more exons than any previously characterized gene

High frequency of the 425A-->G splice-site mutation and novel mutations of the COL7A1 gene in central Europe: significance for future mutation detection strategies in dystrophic epidermolysis bullosa

Maternal uniparental meroisodisomy in the LAMB3 region of chromosome 1 results in lethal junctional epidermolysis bullosa

Pretibial epidermolysis bullosa: genetic linkage to COL7A1 and identification of a glycine-to-cysteine substitution in the triple-helical domain of type VII collagen

Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa.

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