Cloning of human type VII collagen. Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms
about
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypesLocalization of a gene for autosomal dominant Larsen syndrome to chromosome region 3p21.1-14.1 in the proximity of, but distinct from, the COL7A1 locusLysyl Hydroxylase 3 Localizes to Epidermal Basement Membrane and Is Reduced in Patients with Recessive Dystrophic Epidermolysis BullosaDystrophic epidermolysis bullosa: a reviewTwo novel mutations on exon 8 and intron 65 of COL7A1 gene in two Chinese brothers result in recessive dystrophic epidermolysis bullosaCollagen mRNA levels changes during colorectal cancer carcinogenesis.Use of type VII collagen gene (COL7A1) markers in prenatal diagnosis of recessive dystrophic epidermolysis bullosa.Injection of recombinant human type VII collagen corrects the disease phenotype in a murine model of dystrophic epidermolysis bullosa.Blister-inducing antibodies target multiple epitopes on collagen VII in mice.The genetics of human skin disease.Pregnancy after PGD for recessive dystrophic epidermolysis bullosa inversa: genetics and preimplantation genetics.Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.The cartilage matrix protein subdomain of type VII collagen is pathogenic for epidermolysis bullosa acquisita.Glycine substitutions in the triple-helical region of type VII collagen result in a spectrum of dystrophic epidermolysis bullosa phenotypes and patterns of inheritance.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.Gene editing toward the use of autologous therapies in recessive dystrophic epidermolysis bullosa.Immunohistochemical and mutation analyses demonstrate that procollagen VII is processed to collagen VII through removal of the NC-2 domain.Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1)The extracellular matrix and blood vessel formation: not just a scaffold.Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa.Characterization of molecular mechanisms underlying mutations in dystrophic epidermolysis bullosa using site-directed mutagenesis.Supramolecular interactions in the dermo-epidermal junction zone: anchoring fibril-collagen VII tightly binds to banded collagen fibrilsType 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.Intravenously injected recombinant human type VII collagen homes to skin wounds and restores skin integrity of dystrophic epidermolysis bullosaLong-term type VII collagen restoration to human epidermolysis bullosa skin tissue.Tissue engineering of tumor stromal microenvironment with application to cancer cell invasion.Remodeling of the dermal-epidermal junction in bilayered skin constructs after silencing the expression of the p.R2622Q and p.G2623C collagen VII mutants.CRISPR/Cas9-Based Cellular Engineering for Targeted Gene Overexpression.
P2860
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P2860
Cloning of human type VII collagen. Complete primary sequence of the alpha 1(VII) chain and identification of intragenic polymorphisms
description
1994 nî lūn-bûn
@nan
1994 թուականի Օգոստոսին հրատարակուած գիտական յօդուած
@hyw
1994 թվականի օգոստոսին հրատարակված գիտական հոդված
@hy
1994年の論文
@ja
1994年論文
@yue
1994年論文
@zh-hant
1994年論文
@zh-hk
1994年論文
@zh-mo
1994年論文
@zh-tw
1994年论文
@wuu
name
Cloning of human type VII coll ...... on of intragenic polymorphisms
@ast
Cloning of human type VII coll ...... on of intragenic polymorphisms
@en
Cloning of human type VII coll ...... on of intragenic polymorphisms
@nl
type
label
Cloning of human type VII coll ...... on of intragenic polymorphisms
@ast
Cloning of human type VII coll ...... on of intragenic polymorphisms
@en
Cloning of human type VII coll ...... on of intragenic polymorphisms
@nl
prefLabel
Cloning of human type VII coll ...... on of intragenic polymorphisms
@ast
Cloning of human type VII coll ...... on of intragenic polymorphisms
@en
Cloning of human type VII coll ...... on of intragenic polymorphisms
@nl
P2093
P1476
Cloning of human type VII coll ...... on of intragenic polymorphisms
@en
P2093
P304
20256-20262
P407
P577
1994-08-01T00:00:00Z