Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.
about
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypesNeutrophil-specific granule deficiency results from a novel mutation with loss of function of the transcription factor CCAAT/enhancer binding protein epsilonMutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosaTwo novel mutations on exon 8 and intron 65 of COL7A1 gene in two Chinese brothers result in recessive dystrophic epidermolysis bullosaGeneralized dystrophic epidermolysis bullosa: identification of a novel, homozygous glycine substitution, G2031S, in exon 73 of COL7A1 in monozygous triplets.Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering.Molecular pathology of the cutaneous basement membrane zone.A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families.Induction of dermal-epidermal separation in mice by passive transfer of antibodies specific to type VII collagen.Collagens: building blocks at the end of the development line.A single epidermal stem cell strategy for safe ex vivo gene therapy.Characterization of patients with dystrophic epidermolysis bullosa for collagen VII therapyNormal and abnormal mechanisms of gene splicing and relevance to inherited skin diseasesLentiviral Engineered Fibroblasts Expressing Codon-Optimized COL7A1 Restore Anchoring Fibrils in RDEB.Keratinocyte-/fibroblast-targeted rescue of Col7a1-disrupted mice and generation of an exact dystrophic epidermolysis bullosa model using a human COL7A1 mutation.The recombinant expression of full-length type VII collagen and characterization of molecular mechanisms underlying dystrophic epidermolysis bullosa.Mutational founder effect in recessive dystrophic epidermolysis bullosa families from Southern Tunisia.Aberrant 3' splice sites in human disease genes: mutation pattern, nucleotide structure and comparison of computational tools that predict their utilization.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.Analysis of sequence data to identify potential risk variants for oral clefts in multiplex families.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.The international dystrophic epidermolysis bullosa patient registry: an online database of dystrophic epidermolysis bullosa patients and their COL7A1 mutations.Correction of aberrant splicing of the cystic fibrosis transmembrane conductance regulator (CFTR) gene by antisense oligonucleotides.Epidemiology of inherited epidermolysis bullosa in Romania and genotype-phenotype correlations in patients with dystrophic epidermolysis bullosa.Monozygotic twins discordant for recessive dystrophic epidermolysis bullosa phenotype highlight the role of TGF-β signalling in modifying disease severity.A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa.Identification of Two Homozygous Sequence Variants in the COL7A1 Gene Underlying Dystrophic Epidermolysis Bullosa by Whole-Exome Analysis in a Consanguineous Family.Deletion of a Pathogenic Mutation-Containing Exon of COL7A1 Allows Clonal Gene Editing Correction of RDEB Patient Epidermal Stem Cells.Ex Vivo COL7A1 Correction for Recessive Dystrophic Epidermolysis Bullosa Using CRISPR/Cas9 and Homology-Directed Repair
P2860
Q24648149-CE23E6DD-D1FD-4176-8155-D7D9D1E60F8EQ24676601-9CAB6EE0-E8FC-465B-A1BC-37CA7D0C85AEQ28284115-929DDBB9-8C45-4D6F-986E-12BA8E50D154Q28485440-050733DB-2CEF-4B54-9BF7-EE9249AF406FQ31892676-D90EB816-3BDF-4E63-9BAB-2EF74AC8FDA7Q32052839-BD52A58A-36D9-4251-944C-512D2F78AA89Q33610960-90D7EFD3-BB11-46FF-A527-24ACBBA8DFDBQ33709899-160E6796-7D33-4550-9827-6BDCEF8681E5Q33726907-3413E5E1-9C48-4929-8F1D-035240389BA4Q34081507-A4361E82-9FD6-499B-9563-5B0A09F3A26CQ35483739-6C7B8F32-B566-43B9-B0D9-672B9AED0747Q35985696-84583EEE-EF1F-4A6E-8C01-BF89A5955F86Q36212704-52329B99-E09B-477C-8916-B6FE2E4345CDQ36595683-C5CDD78A-6CB8-4C7D-9059-96FC3CD63201Q37462643-2CE6325A-7227-483D-A736-7527FB9310C0Q38294958-E28B967C-D17D-4DF3-8902-EB9AC7CBCDD5Q38901868-F6BEF941-0523-412B-AE70-7657441EEAD7Q39113625-57B56DFC-7BC1-43C8-9EBA-DF67D82F4FC7Q39599980-8D127D07-48BB-4D07-A67A-68F6029F30A3Q41176379-7A8ECE10-DF2E-4987-9567-D2073BF1D7E5Q41696416-B029BD89-696D-457A-AB11-7A2B0A147EDDQ41781303-7019577B-2211-4B03-9E11-01B280347A38Q42605404-3C951FF6-2B3F-41FF-BAE2-298D4DDE9F38Q42807733-8A2A8F7D-3702-4B39-9D5F-F4E76DD853CBQ44606170-CE541228-243E-4E75-92B0-C2B874556EADQ46149384-C70CA55C-91F5-4316-A03A-84AC22E6470AQ48244290-CF0A4F97-08B1-481D-896D-4464107D39BFQ53457131-876F8B97-DDCD-4397-A608-095F8A72E9A7Q55261906-76C8A0CA-3899-47EE-87C9-335F4D5B464CQ57159704-8CF37294-E121-42EB-9747-4F7A99F0BFDB
P2860
Characterization of 18 new mutations in COL7A1 in recessive dystrophic epidermolysis bullosa provides evidence for distinct molecular mechanisms underlying defective anchoring fibril formation.
description
1997 nî lūn-bûn
@nan
1997 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
1997 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
1997年の論文
@ja
1997年論文
@yue
1997年論文
@zh-hant
1997年論文
@zh-hk
1997年論文
@zh-mo
1997年論文
@zh-tw
1997年论文
@wuu
name
Characterization of 18 new mut ...... ve anchoring fibril formation.
@ast
Characterization of 18 new mut ...... ve anchoring fibril formation.
@en
type
label
Characterization of 18 new mut ...... ve anchoring fibril formation.
@ast
Characterization of 18 new mut ...... ve anchoring fibril formation.
@en
prefLabel
Characterization of 18 new mut ...... ve anchoring fibril formation.
@ast
Characterization of 18 new mut ...... ve anchoring fibril formation.
@en
P2093
P2860
P356
P1476
Characterization of 18 new mut ...... ve anchoring fibril formation.
@en
P2093
A M Christiano
C A Rivers
Y Barrandon
Y de Prost
P2860
P304
P356
10.1086/515495
P407
P577
1997-09-01T00:00:00Z