Associated Papers
Genotype-phenotype correlations on epidermolysis bullosa with congenital absence of skin: A comprehensive review.
Mariath LM et al.
Clinical Genetics, 2021
A Case of Dominant Dystrophic Epidermolysis Bullosa with a G2043R Mutation in the Type VII Collagen Gene.
Komatsu K et al.
Acta Dermatovenerologica Croatica : Adc, 2020
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
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
The Position of Targeted Next-generation Sequencing in Epidermolysis Bullosa Diagnosis.
Has C et al.
Acta Dermato-venereologica, 2018
Assessment of the ExAC data set for the presence of individuals with pathogenic genotypes implicated in severe Mendelian pediatric disorders.
Tarailo-Graovac M et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017
A mutation-independent therapeutic strategy for dominant dystrophic epidermolysis bullosa.
Morgan CP et al.
The Journal of Investigative Dermatology, 2013
Identical glycine substitution mutations in type VII collagen may underlie both dominant and recessive forms of dystrophic epidermolysis bullosa.
Almaani N et al.
Acta Dermato-venereologica, 2011
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
Dominant-negative effects of COL7A1 mutations can be rescued by controlled overexpression of normal collagen VII.
Fritsch A et al.
The Journal of Biological Chemistry, 2009
Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.
Dang N et al.
Experimental Dermatology, 2008
Characterization of molecular mechanisms underlying mutations in dystrophic epidermolysis bullosa using site-directed mutagenesis.
Woodley DT et al.
The Journal of Biological Chemistry, 2008
Dominant dystrophic epidermolysis bullosa caused by a novel G2037R mutation and by a known G2028R mutation in the type VII collagen gene (COL7A1).
Iwata T et al.
The Journal of Dermatology, 2006
Expanding the COL7A1 mutation database: novel and recurrent mutations and unusual genotype-phenotype constellations in 41 patients with dystrophic epidermolysis bullosa.
Kern JS et al.
The Journal of Investigative Dermatology, 2006
Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa.
Mallipeddi R et al.
The British Journal of Dermatology, 2003
The recombinant expression of full-length type VII collagen and characterization of molecular mechanisms underlying dystrophic epidermolysis bullosa.
Chen M et al.
The Journal of Biological Chemistry, 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
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 glycine substitution mutation, G2043R, in the type VII collagen gene (COL7A1) in dominant dystrophic epidermolysis bullosa.
Mellerio JE et al.
The British Journal of Dermatology, 1998
Some, but not all, glycine substitution mutations in COL7A1 result in intracellular accumulation of collagen VII, loss of anchoring fibrils, and skin blistering.
Hammami-Hauasli N et al.
The Journal of Biological Chemistry, 1998
[Dystrophic epidermolysis bullosa].
Gol'dshteĭn LM et al.
Vestnik Dermatologii I Venerologii, 1976