Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa.
about
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypesMutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosaA prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families.Mechanisms of fibroblast cell therapy for dystrophic epidermolysis bullosa: high stability of collagen VII favors long-term skin integrityAltered gene expression in murine placentas in an infection-induced intrauterine growth restriction model: a microarray analysis.A COL7A1 mutation causes dystrophic epidermolysis bullosa in Rotes Höhenvieh cattle.Rat model for dominant dystrophic epidermolysis bullosa: glycine substitution reduces collagen VII stability and shows gene-dosage effectA hypomorphic mouse model of dystrophic epidermolysis bullosa reveals mechanisms of disease and response to fibroblast therapy.Global remodelling of cellular microenvironment due to loss of collagen VII.Keratinocyte-/fibroblast-targeted rescue of Col7a1-disrupted mice and generation of an exact dystrophic epidermolysis bullosa model using a human COL7A1 mutation.Gene therapy: pursuing restoration of dermal adhesion in recessive dystrophic epidermolysis bullosa.A novel deletion and two recurrent substitutions on type VII collagen gene in seven Iranian patients with epidermolysis bullosa.Can type VII collagen injections cure dystrophic epidermolysis bullosa?Dominant-negative effects of COL7A1 mutations can be rescued by controlled overexpression of normal collagen VII.A knot polymer mediated non-viral gene transfection for skin cells.Acquired syndactyly in epidermolysis bullosa dystrophica.The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.Compound heterozygosity of the novel -186C>T mutation in the COL7A1 promoter and the recurrent c.497insA mutation leads to generalized dystrophic epidermolysis bullosa.Epidemiology of inherited epidermolysis bullosa in Romania and genotype-phenotype correlations in patients with dystrophic epidermolysis bullosa.A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa.Combinatorial omics analysis reveals perturbed lysosomal homeostasis in collagen VII-deficient keratinocytes.Verrucous carcinoma in epidermolysis bullosa simplex is possibly associated with a novel mutation in the keratin 5 gene.
P2860
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P2860
Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa.
description
2006 nî lūn-bûn
@nan
2006 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2006 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
name
Expanding the COL7A1 mutation ...... trophic epidermolysis bullosa.
@ast
Expanding the COL7A1 mutation ...... trophic epidermolysis bullosa.
@en
type
label
Expanding the COL7A1 mutation ...... trophic epidermolysis bullosa.
@ast
Expanding the COL7A1 mutation ...... trophic epidermolysis bullosa.
@en
prefLabel
Expanding the COL7A1 mutation ...... trophic epidermolysis bullosa.
@ast
Expanding the COL7A1 mutation ...... trophic epidermolysis bullosa.
@en
P50
P356
P1476
Expanding the COL7A1 mutation ...... strophic epidermolysis bullosa
@en
P2093
Jürgen Kohlhase
P2888
P304
P356
10.1038/SJ.JID.5700219
P407
P577
2006-05-01T00:00:00Z
P5875
P6179
1018667323