Associated Papers
Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.
Ota VK et al.
Clinical and Experimental Dermatology, 2025
Dominant dystrophic epidermolysis bullosa across three distinct skin types.
Kaznoski I et al.
Journal of the American Academy of Dermatology, 2025
Stairways to Advanced Therapies for Epidermolysis Bullosa.
De Rosa L et al.
Cold Spring Harbor Perspectives in Biology, 2023
A Retrospective Analysis of Clinically Focused Exome Sequencing Results of 372 Infants with Suspected Monogenic Disorders in China.
Jia A et al.
Pharmacogenomics and Personalized Medicine, 2023
Clinical and allelic heterogeneity in dystrophic epidermolysis bullosa- lessons from an Indian cohort.
Gupta D et al.
Plos One, 2023
Epidermolysis Bullosa-A Different Genetic Approach in Correlation with Genetic Heterogeneity.
Pânzaru MC et al.
Diagnostics (basel, Switzerland), 2022
Dystrophic epidermolysis bullosa pruriginosa: a new case series of a rare phenotype unveils skewed Th2 immunity.
Darbord D et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2022
Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases.
Yu Y et al.
Acta Dermato-venereologica, 2021
Mouse models for dominant dystrophic epidermolysis bullosa carrying common human point mutations recapitulate the human disease.
Smith BRC et al.
Disease Models & Mechanisms, 2021
Immunofluorescence mapping, electron microscopy and genetics in the diagnosis and sub-classification of inherited epidermolysis bullosa: a single-centre retrospective comparative study of 87 cases with long-term follow-up.
Rossi S et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 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
Next-generation sequencing through multigene panel testing for the diagnosis of hereditary epidermolysis bullosa in Chinese population.
Chen F 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
A comprehensive next-generation sequencing assay for the diagnosis of epidermolysis bullosa.
Lucky AW et al.
Pediatric Dermatology, 2018
Gene diagnosis and prenatal genetic diagnosis of a case of dystrophic epidermolysis bullosa family caused by gonadosomatic mosaicism for the COL7A1 mutation p.Gly2043Arg in the pregnant mother.
Shen J et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2016
Two novel missense mutations of STS gene underlie X-linked recessive ichthyosis: understanding of the mutational and structural spectrum.
Oyama N et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 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
Ten years of DNA diagnostics of epidermolysis bullosa in the Czech Republic.
Kopečková L et al.
The British Journal of Dermatology, 2016
Epidemiology of inherited epidermolysis bullosa in Romania and genotype-phenotype correlations in patients with dystrophic epidermolysis bullosa.
Dănescu S et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2015
Somatic mosaicism for the COL7A1 mutation p.Gly2034Arg in the unaffected mother of a patient with dystrophic epidermolysis bullosa pruriginosa.
van den Akker PC et al.
The British Journal of Dermatology, 2015
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
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
Dystrophic epidermolysis bullosa: two case reports.
Dănescu S et al.
Romanian Journal of Morphology and Embryology = Revue Roumaine De Morphologie Et Embryologie, 2011
New glycine substitution mutations in type VII collagen underlying epidermolysis bullosa pruriginosa but the phenotype is not explained by a common polymorphism in the matrix metalloproteinase-1 gene promoter.
Almaani N et al.
Acta Dermato-venereologica, 2009
Dystrophic epidermolysis bullosa pruriginosa is not associated with frequent FLG gene mutations.
Schumann H et al.
The British Journal of 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
COL7A1 mutational analysis in Korean patients with dystrophic epidermolysis bullosa.
Oh SW et al.
The British Journal of Dermatology, 2007
Clinical and molecular dilemmas in the diagnosis of familial epidermolysis bullosa pruriginosa.
Ee HL et al.
Journal of the American Academy of Dermatology, 2007
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
Genetic studies of 20 Japanese families of dystrophic epidermolysis bullosa.
Sawamura D et al.
Journal of Human Genetics, 2005
The G2028R glycine substitution mutation in COL7A1 leads to marked inter-familiar clinical heterogeneity in dominant dystrophic epidermolysis bullosa.
Nakamura H et al.
Journal of Dermatological Science, 2004
A novel missense mutation in the COL7A1 gene underlies epidermolysis bullosa pruriginosa.
Chuang GS et al.
Clinical and Experimental Dermatology, 2004
Dilemmas in distinguishing between dominant and recessive forms of dystrophic epidermolysis bullosa.
Mallipeddi R et al.
The British Journal of Dermatology, 2003
EB simplex superficialis resulting from a mutation in the type VII collagen gene.
Martinez-Mir A et al.
The Journal of Investigative Dermatology, 2002
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
[Study on COL7A1 gene mutation in a epidermolysis bullosa pruriginosa family].
Chen X et al.
Zhonghua Yi Xue Za Zhi, 2000
Prenatal diagnosis of dominant dystrophic epidermolysis bullosa, by COL7A1 molecular analysis.
Klingberg S et al.
Prenatal Diagnosis, 2000
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
Novel glycine substitution mutations in COL7A1 reveal that the Pasini and Cockayne-Touraine variants of dominant dystrophic epidermolysis bullosa are allelic.
Kon A 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
[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