Associated Papers
Epidermolysis Bullosa: Two rare case reports of COL7A1 and EBS-GEN SEV KRT14 variants with review of literature.
Ali FM et al.
Bmc Pediatrics, 2024
Gene-Modified Blister Fluid-Derived Mesenchymal Stromal Cells for Treating Recessive Dystrophic Epidermolysis Bullosa.
Kikuchi Y et al.
The Journal of Investigative Dermatology, 2023
Predominance of Staphylococcus Correlates with Wound Burden and Disease Activity in Dystrophic Epidermolysis Bullosa: A Prospective Case-Control Study.
Reimer-Taschenbrecker A et al.
The Journal of Investigative Dermatology, 2022
Generation of a recessive dystrophic epidermolysis bullosa mouse model with patient-derived compound heterozygous mutations.
Takaki S et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 2022
A case of recessive dystrophic epidermolysis bullosa treated with a cultured epidermal autograft.
Mochizuki R et al.
The Journal of Dermatology, 2021
Challenges in Treating Genodermatoses: New Therapies at the Horizon.
Morren MA et al.
Frontiers in Pharmacology, 2021
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
Molecular Therapeutics in Development for Epidermolysis Bullosa: Update 2020.
Has C et al.
Molecular Diagnosis & Therapy, 2020
Context-Dependent Strategies for Enhanced Genome Editing of Genodermatoses.
March OP et al.
Cells, 2020
Efficient Gene Reframing Therapy for Recessive Dystrophic Epidermolysis Bullosa with CRISPR/Cas9.
Takashima S et al.
The Journal of Investigative Dermatology, 2019
Comprehensive analysis of coding variants highlights genetic complexity in developmental and epileptic encephalopathy.
Takata A et al.
Nature Communications, 2019
Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases.
Montaudié H et al.
Orphanet Journal of Rare Diseases, 2016
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
Dystrophic epidermolysis bullosa: a review.
Shinkuma S
Clinical, Cosmetic and Investigational Dermatology, 2015
Hallopeau-Siemens dystrophic epidermolysis bullosa due to homozygous 5818delC mutation in the COL7A gene.
Koshida S et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2013
Recessive dystrophic epidermolysis bullosa: identification of a novel COL7A1 mutation of D44N.
Makino E et al.
Journal of Dermatological Science, 2012
Response of intractable skin ulcers in recessive dystrophic epidermolysis bullosa patients to an allogeneic cultured dermal substitute.
Natsuga K et al.
Acta Dermato-venereologica, 2010
Keratinocyte-/fibroblast-targeted rescue of Col7a1-disrupted mice and generation of an exact dystrophic epidermolysis bullosa model using a human COL7A1 mutation.
Ito K et al.
The American Journal of Pathology, 2009
Genotype-phenotype correlations in six Japanese patients with recessive dystrophic epidermolysis bullosa with the recurrent p.Glu2857X mutation.
Saito M et al.
Journal of Dermatological Science, 2008
Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.
Dang N et al.
Experimental Dermatology, 2008
Epidermolysis bullosa. II. Type VII collagen mutations and phenotype-genotype correlations in the dystrophic subtypes.
Varki R et al.
Journal of Medical Genetics, 2007
Targeted skipping of a single exon harboring a premature termination codon mutation: implications and potential for gene correction therapy for selective dystrophic epidermolysis bullosa patients.
Goto M et al.
The Journal of Investigative Dermatology, 2006
Glycine substitution mutations by different amino acids at the same codon in COL7A1 cause different modes of dystrophic epidermolysis bullosa inheritance.
Sawamura D et al.
The British Journal of Dermatology, 2006
Fibroblasts show more potential as target cells than keratinocytes in COL7A1 gene therapy of dystrophic epidermolysis bullosa.
Goto M et al.
The Journal of Investigative Dermatology, 2006
Compound heterozygosity in sibling patients with recessive dystrophic epidermolysis bullosa associated with a mild phenotype.
Shibusawa Y et al.
International Journal of Dermatology, 2006
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
Does the position of the premature termination codon in COL7A1 correlate with the clinical severity in recessive dystrophic epidermolysis bullosa?
Ishiko A et al.
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
Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.
Pfendner EG et al.
Prenatal Diagnosis, 2003
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
Recurrent COL7A1 mutations in Japanese patients with dystrophic epidermolysis bullosa: positional effects of premature termination codon mutations on clinical severity. Japanese Collaborative Study Group on Epidermolysis Bullosa.
Tamai K et al.
The Journal of Investigative 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
Novel COL7A1 mutations in dystrophic forms of epidermolysis bullosa.
Kon A et al.
The Journal of Investigative Dermatology, 1998
Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1).
Järvikallio A et al.
Human Mutation, 1997
A common insertion mutation in COL7A1 in two Italian families with recessive dystrophic epidermolysis bullosa.
Christiano AM et al.
The Journal of Investigative Dermatology, 1996
Prenatal diagnosis for recessive dystrophic epidermolysis bullosa in 10 families by mutation and haplotype analysis in the type VII collagen gene (COL7A1).
Christiano AM et al.
Molecular Medicine (cambridge, Mass.), 1996
Premature termination codons on both alleles of the type VII collagen gene (COL7A1) in three brothers with recessive dystrophic epidermolysis bullosa.
Christiano AM et al.
The Journal of Clinical Investigation, 1995
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