Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa - Wikidata - wikimedia - TriplyDB

Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa

Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa

http://www.wikidata.org/entity/Q28284115

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Developmental and pathogenic mechanisms of basement membrane assembly Gene therapy for skin diseases Dystrophic epidermolysis bullosa: a review Two novel mutations on exon 8 and intron 65 of COL7A1 gene in two Chinese brothers result in recessive dystrophic epidermolysis bullosa Insight into interactions of the von-Willebrand-factor-A-like domain 2 with the FNIII-like domain 9 of collagen VII by NMR and SPR The cysteine-rich region of type VII collagen is a cystine knot with a new topology Aminoglycosides restore full-length type VII collagen by overcoming premature termination codons: therapeutic implications for dystrophic epidermolysis bullosa.Recessive dystrophic epidermolysis bullosa results in painful small fibre neuropathy.Cell therapy in dermatology.Nonsense variant in COL7A1 causes recessive dystrophic epidermolysis bullosa in Central Asian Shepherd dogs.Induced pluripotent stem cells from individuals with recessive dystrophic epidermolysis bullosa.Bone marrow transplantation for recessive dystrophic epidermolysis bullosa The genetics of human skin disease.Pregnancy after PGD for recessive dystrophic epidermolysis bullosa inversa: genetics and preimplantation genetics.Novel insights into the function and dynamics of extracellular matrix in liver fibrosis.Preconditioning of mesenchymal stem cells for improved transplantation efficacy in recessive dystrophic epidermolysis bullosa Position of glycine substitutions in the triple helix of COL6A1, COL6A2, and COL6A3 is correlated with severity and mode of inheritance in collagen VI myopathies.A nonsense mutation in the COL7A1 gene causes epidermolysis bullosa in Vorderwald cattle Gene editing toward the use of autologous therapies in recessive dystrophic epidermolysis bullosa.Extracellular matrix remodeling: the common denominator in connective tissue diseases. Possibilities for evaluation and current understanding of the matrix as more than a passive architecture, but a key player in tissue failure.Site-specific genome editing for correction of induced pluripotent stem cells derived from dominant dystrophic epidermolysis bullosa.An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred Fluorescent protein markers to tag collagenous proteins: the paradigm of procollagen VII.Type VII collagen: the anchoring fibril protein at fault in dystrophic epidermolysis bullosa.Novel and emerging therapies in the treatment of recessive dystrophic epidermolysis bullosa.Epidermolysis bullosa in animals: a review.A novel deletion and two recurrent substitutions on type VII collagen gene in seven Iranian patients with epidermolysis bullosa.Identification of Variants in Genes Associated with Single-gene Inflammatory Bowel Disease by Whole-exome Sequencing.Transient bullous dermolysis of the newborn: a novel de novo mutation in the COL7A1 gene.Pre-Cancerous Lesions in the Oral and Maxillofacial Region: A Literature Review with Special Focus on Etiopathogenesis Scanning electron microscopy of a blister roof in dystrophic epidermolysis bullosa.Novel deletion mutation (c.3717del5) in COL7A1 in a patient with recessive dystrophic epidermolysis bullosa.Monozygotic twins discordant for recessive dystrophic epidermolysis bullosa phenotype highlight the role of TGF-β signalling in modifying disease severity.Autoantibody-induced intestinal inflammation and weight loss in experimental epidermolysis bullosa acquisita.Wool-derived keratin stimulates human keratinocyte migration and types IV and VII collagen expression.The COL7A1 mutation database.Serum levels of high mobility group box 1 correlate with disease severity in recessive dystrophic epidermolysis bullosa.Whole-exome sequencing improves mutation detection in a diagnostic epidermolysis bullosa laboratory.Clinical variability in dystrophic epidermolysis bullosa and findings with scanning electron microscopy.Patent Highlights October-November 2016.

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Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa

http://www.wikidata.org/entity/Q28284115

description

2008 nî lūn-bûn

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2008 թուականի Յուլիսին հրատարակուած գիտական յօդուած

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2008年の論文

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Mutation analysis and characte ...... strophic epidermolysis bullosa

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Mutation analysis and characte ...... strophic epidermolysis bullosa

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Mutation analysis and characte ...... strophic epidermolysis bullosa

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Mutation analysis and characte ...... strophic epidermolysis bullosa

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Mutation analysis and characte ...... strophic epidermolysis bullosa

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Mutation analysis and characte ...... strophic epidermolysis bullosa

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Mutation analysis and characte ...... strophic epidermolysis bullosa

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Mutation analysis and characte ...... strophic epidermolysis bullosa

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Experimental Dermatology

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Mutation analysis and characte ...... strophic epidermolysis bullosa

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Dédée F Murrell

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Ningning Dang

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P2860

Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1)

Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa

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

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

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

New perspectives in cell adhesion: RGD and integrins

Review of collagen VII sequence variants found in Australasian patients with dystrophic epidermolysis bullosa reveals nine novel COL7A1 variants

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

Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering.

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