Associated Papers
Intersection of rare pathogenic variants from TCGA in the All of Us Research Program v6.
Bates BA et al.
Hgg Advances, 2025
Antiviral drugs prolong survival in murine recessive dystrophic epidermolysis bullosa.
Tartaglia G et al.
Embo Molecular Medicine, 2024
Diverse clinical and genetic characteristics of six cases of inherited epidermolysis bullosa.
Yao Y et al.
Experimental and Therapeutic Medicine, 2022
5'RNA Trans-Splicing Repair of COL7A1 Mutant Transcripts in Epidermolysis Bullosa.
Mayr E et al.
International Journal of Molecular Sciences, 2022
Novel gene variants in patients with platelet-based bleeding using combined exome sequencing and RNAseq murine expression data.
Khan AO et al.
Journal of Thrombosis and Haemostasis : Jth, 2021
Phase I/II open-label trial of intravenous allogeneic mesenchymal stromal cell therapy in adults with recessive dystrophic epidermolysis bullosa.
Rashidghamat E et al.
Journal of the American Academy of Dermatology, 2020
A novel mutation of COL7A1 in a Chinese DEB-Pt family and review of the literature.
Jin L et al.
Journal of Cosmetic Dermatology, 2020
Revertant mosaicism in genodermatoses.
Lim YH et al.
Cellular and Molecular Life Sciences : Cmls, 2017
A novel deletion and two recurrent substitutions on type VII collagen gene in seven Iranian patients with epidermolysis bullosa.
Hamidi AK et al.
Iranian Journal of Basic Medical Sciences, 2016
[COL7A1 gene mutation analysis of dystrophic epidermolysis bullosa and prenatal diagnosis].
Liu N et al.
Zhonghua Yi Xue Za Zhi, 2015
Dystrophic epidermolysis bullosa: a review.
Shinkuma S
Clinical, Cosmetic and Investigational Dermatology, 2015
De novo anti-type VII collagen antibodies in patients with recessive dystrophic epidermolysis bullosa.
Woodley DT et al.
The Journal of Investigative Dermatology, 2014
The largest family of the Americas with dominant dystrophic epidermolysis bullosa pruriginosa: a 18-year longitudinal genotype-phenotype study.
Fortuna G et al.
Journal of Dermatological Science, 2013
Revertant mosaicism in heritable skin diseases: mechanisms of natural gene therapy.
Pasmooij AM et al.
Discovery Medicine, 2012
Epidermolysis bullosa - a group of skin diseases with different causes but commonalities in gene expression.
Knaup J et al.
Experimental Dermatology, 2012
HB-EGF induces COL7A1 expression in keratinocytes and fibroblasts: possible mechanism underlying allogeneic fibroblast therapy in recessive dystrophic epidermolysis Bullosa.
Nagy N et al.
The Journal of Investigative Dermatology, 2011
Revertant mosaicism in skin: natural gene therapy.
Lai-Cheong JE et al.
Trends in Molecular Medicine, 2011
Functional correction of type VII collagen expression in dystrophic epidermolysis bullosa.
Murauer EM et al.
The Journal of Investigative Dermatology, 2011
Revertant mosaicism in recessive dystrophic epidermolysis bullosa.
Almaani N et al.
The Journal of Investigative Dermatology, 2010
Potential of fibroblast cell therapy for recessive dystrophic epidermolysis bullosa.
Wong T et al.
The Journal of Investigative Dermatology, 2008
Dystrophic epidermolysis bullosa pruriginosa is not associated with frequent FLG gene mutations.
Schumann H et al.
The British Journal of Dermatology, 2008
Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.
Dang N et al.
Experimental Dermatology, 2008
Significance of sentinel node biopsy in the management of squamous cell carcinoma arising from recessive dystrophic epidermolysis bullosa.
Rokunohe A et al.
The Journal of Dermatology, 2008
Patients with recessive dystrophic epidermolysis bullosa develop squamous-cell carcinoma regardless of type VII collagen expression.
Pourreyron C et al.
The Journal of Investigative Dermatology, 2007
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
Varki R et al.
Journal of Medical Genetics, 2007
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.
Csikós M et al.
The British Journal of Dermatology, 2005
Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa.
Sawamura D et al.
Journal of Human Genetics, 2005
A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa.
Chuang GS et al.
Clinical and Experimental Dermatology, 2004
Differences in recurrent COL7A1 mutations in dystrophic epidermolysis bullosa: ethnic-specific and worldwide recurrent mutations.
Murata T et al.
Archives of Dermatological Research, 2004
Genotype-phenotype correlation in italian patients with dystrophic epidermolysis bullosa.
Gardella R et al.
The Journal of Investigative Dermatology, 2002
Comparative mutation detection screening of the type VII collagen gene (COL7A1) using the protein truncation test, fluorescent chemical cleavage of mismatch, and conformation sensitive gel electrophoresis.
Whittock NV et al.
The Journal of Investigative Dermatology, 1999
Allelic heterogeneity of dominant and recessive COL7A1 mutations underlying epidermolysis bullosa pruriginosa.
Mellerio JE et al.
The Journal of Investigative Dermatology, 1999
Recurrent molecular abnormalities in type VII collagen in Southern Italian patients with recessive dystrophic epidermolysis bullosa.
Ashton GH et al.
Clinical and Experimental Dermatology, 1999
Clustering of COL7A1 mutations in exon 73: implications for mutation analysis in dystrophic epidermolysis bullosa.
Mecklenbeck S et al.
The Journal of Investigative Dermatology, 1999
A recurrent frameshift mutation in exon 19 of the type VII collagen gene (COL7A1) in Mexican patients with recessive dystrophic epidermolysis bullosa.
Mellerio JE et al.
Experimental Dermatology, 1999
A recurrent COL7A1 mutation, R2814X, in British patients with recessive dystrophic epidermolysis bullosa.
Mohammedi R et al.
Clinical and Experimental Dermatology, 1999
Three homozygous PTC mutations in the collagen type VII gene of patients affected by recessive dystrophic epidermolysis bullosa: analysis of transcript levels in dermal fibroblasts.
Gardella R et al.
Human Mutation, 1999
Frameshift mutations in the type VII collagen gene (COL7A1) in five Mexican cousins with recessive dystrophic epidermolysis bullosa.
Salas-Alanis JC et al.
The British Journal of Dermatology, 1998
Premature termination codon mutations in the type VII collagen gene in recessive dystrophic epidermolysis bullosa result in nonsense-mediated mRNA decay and absence of functional protein.
Christiano AM et al.
The Journal of Investigative Dermatology, 1997
Recurrent mutations in the type VII collagen gene (COL7A1) in patients with recessive dystrophic epidermolysis bullosa.
Mellerio JE et al.
The Journal of Investigative Dermatology, 1997
Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1).
Järvikallio A et al.
Human Mutation, 1997
Clinicopathological correlations of compound heterozygous COL7A1 mutations in recessive dystrophic epidermolysis bullosa.
Dunnill MG et al.
The Journal of Investigative Dermatology, 1996
Molecular basis for the dystrophic forms of epidermolysis bullosa: mutations in the type VII collagen gene.
Uitto J et al.
Archives of Dermatological Research, 1994
[Dystrophic epidermolysis bullosa].
Gol'dshteĭn LM et al.
Vestnik Dermatologii I Venerologii, 1976
An incompletely penetrant novel mutation in COL7A1 causes epidermolysis bullosa pruriginosa and dominant dystrophic epidermolysis bullosa phenotypes in an extended kindred.
Yang CS et al.
Pediatric Dermatology, 0