Dominant-negative effects of COL7A1 mutations can be rescued by controlled overexpression of normal collagen VII. - Wikidata - awgldk - TriplyDB

Dominant-negative effects of COL7A1 mutations can be rescued by controlled overexpression of normal collagen VII.

Dominant-negative effects of COL7A1 mutations can be rescued by controlled overexpression of normal collagen VII.

http://www.wikidata.org/entity/Q39804335

about

K14 mRNA reprogramming for dominant epidermolysis bullosa simplex.Prevalence of collagen VII-specific autoantibodies in patients with autoimmune and inflammatory diseases Missense mutations in pyruvate kinase M2 promote cancer metabolism, oxidative endurance, anchorage independence, and tumor growth in a dominant negative manner.Persistence of intracellular and extracellular changes after incompletely suppressing expression of the R789C (p.R989C) and R992C (p.R1192C) collagen II mutants.A cellular model for the investigation of Fuchs' endothelial corneal dystrophy.Rat model for dominant dystrophic epidermolysis bullosa: glycine substitution reduces collagen VII stability and shows gene-dosage effect Efficient Targeted Next Generation Sequencing-Based Workflow for Differential Diagnosis of Alport-Related Disorders Trans-splicing improvement by the combined application of antisense strategies.Analysis of the functional consequences of targeted exon deletion in COL7A1 reveals prospects for dystrophic epidermolysis bullosa therapy.RNA-based therapies for genodermatoses.Collagen VII plays a dual role in wound healing.Skin basement membrane: the foundation of epidermal integrity--BM functions and diverse roles of bridging molecules nidogen and perlecan.Remodeling of the dermal-epidermal junction in bilayered skin constructs after silencing the expression of the p.R2622Q and p.G2623C collagen VII mutants.PNA as a potential modulator of COL7A1 gene expression in dominant dystrophic epidermolysis bullosa: a physico-chemical study.

P2860

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P2860

Dominant-negative effects of COL7A1 mutations can be rescued by controlled overexpression of normal collagen VII.

http://www.wikidata.org/entity/Q39804335

description

2009 nî lūn-bûn

@nan

2009年の論文

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2009年学术文章

@wuu

2009年学术文章

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2009年学术文章

@zh-hans

2009年学术文章

@zh-my

2009年学术文章

@zh-sg

2009年學術文章

@yue

2009年學術文章

@zh

2009年學術文章

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name

Dominant-negative effects of C ...... ession of normal collagen VII.

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Dominant-negative effects of C ...... ession of normal collagen VII.

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type

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Dominant-negative effects of C ...... ession of normal collagen VII.

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Dominant-negative effects of C ...... ession of normal collagen VII.

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prefLabel

Dominant-negative effects of C ...... ession of normal collagen VII.

@en

Dominant-negative effects of C ...... ession of normal collagen VII.

@nl

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JBC.M109.045294

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Journal of Biological Chemistry

P1476

Dominant-negative effects of C ...... ession of normal collagen VII.

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P2093

Andreas Schlosser

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Anja Fritsch

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Susanne Elfert

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P2860

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

Proteinases of the bone morphogenetic protein-1 family convert procollagen VII to mature anchoring fibril collagen

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

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

Stability related bias in residues replacing glycines within the collagen triple helix (Gly-Xaa-Yaa) in inherited connective tissue disorders

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.

Recombinant collagen studies link the severe conformational changes induced by osteogenesis imperfecta mutations to the disruption of a set of interchain salt bridges.

Mechanisms of fibroblast cell therapy for dystrophic epidermolysis bullosa: high stability of collagen VII favors long-term skin integrity

Type VII collagen, anchoring fibrils, and epidermolysis bullosa.

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30248-30256

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scholarly article

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10.1074/JBC.M109.045294

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44

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284

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Leena Bruckner-Tuderman

Guerrino Meneguzzi

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2009-09-02T00:00:00Z

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19726672

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P932

2781580

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