Associated Papers
Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.
Ota VK et al.
Clinical and Experimental Dermatology, 2025
Autosomal recessive type of dystrophic epidermolysis bullosa with a novel variant in the COL7A1 gene.
Nikolova SE et al.
Biomedical Reports, 2024
Clinical and allelic heterogeneity in dystrophic epidermolysis bullosa- lessons from an Indian cohort.
Gupta D et al.
Plos One, 2023
Mutational analysis of epidermolysis bullosa in Taiwan by whole-exome sequencing complemented by RNA sequencing: a series of 77 patients.
Tu WT et al.
Orphanet Journal of Rare Diseases, 2022
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
QR-313, an Antisense Oligonucleotide, Shows Therapeutic Efficacy for Treatment of Dominant and Recessive Dystrophic Epidermolysis Bullosa: A Preclinical Study.
Bornert O et al.
The Journal of Investigative Dermatology, 2021
Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.
Mariath LM et al.
Clinical Genetics, 2021
Epidermolysis bullosa with congenital absence of skin: Clinical and genetic characterization of a 23-case series.
Mariath LM et al.
Clinical Genetics, 2020
An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease-causing variants.
Mariath LM et al.
Clinical Genetics, 2019
Dystrophic Epidermolysis Bullosa: COL7A1 Mutation Landscape in a Multi-Ethnic Cohort of 152 Extended Families with High Degree of Customary Consanguineous Marriages.
Vahidnezhad H et al.
The Journal of Investigative Dermatology, 2017
Targeted Exon Skipping Restores Type VII Collagen Expression and Anchoring Fibril Formation in an In Vivo RDEB Model.
Turczynski S et al.
The Journal of Investigative Dermatology, 2016
The inversa type of recessive dystrophic epidermolysis bullosa is caused by specific arginine and glycine substitutions in type VII collagen.
van den Akker PC et al.
Journal of Medical Genetics, 2011
A prevalent mutation with founder effect in Spanish Recessive Dystrophic Epidermolysis Bullosa families.
Cuadrado-Corrales N et al.
Bmc Medical Genetics, 2010
The first COL7A1 mutation survey in a large Spanish dystrophic epidermolysis bullosa cohort: c.6527insC disclosed as an unusually recurrent mutation.
Escámez MJ et al.
The British Journal of Dermatology, 2010
Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.
Dang N et al.
Experimental Dermatology, 2008
Denaturing HPLC-based approach for detection of COL7A1 gene mutations causing dystrophic epidermolysis bullosa.
Posteraro P et al.
Biochemical and Biophysical Research Communications, 2005
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
Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense.
Wessagowit V et al.
The Journal of Investigative Dermatology, 2005
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
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