Associated Papers
Descriptive Study of the Clinical and Molecular Features of Epidermolysis Bullosa Patients in a Romanian European Reference Network-Skin Affiliated Reference Center.
Suru A et al.
Cureus, 2024
ATM deficiency confers specific therapeutic vulnerabilities in bladder cancer.
Zhou Y et al.
Science Advances, 2023
COL7A1 Editing via RNA Trans-Splicing in RDEB-Derived Skin Equivalents.
Liemberger B et al.
International Journal of Molecular Sciences, 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
[Wound therapy with cold atmospheric plasma in severe recessive dystrophic epidermolysis bullosa : A pilot study].
Thiem A et al.
Der Hautarzt; Zeitschrift Fur Dermatologie, Venerologie, Und Verwandte Gebiete, 2022
Novel and very rare causative variants in the COL7A1 gene of Vietnamese patients with recessive dystrophic epidermolysis bullosa revealed by whole-exome sequencing.
Ma THT et al.
Molecular Genetics & Genomic Medicine, 2021
Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases.
Yu Y et al.
Acta Dermato-venereologica, 2021
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
Genomic, transcriptomic, and viral integration profiles associated with recurrent/metastatic progression in high-risk human papillomavirus cervical carcinomas.
Liu JJ et al.
Cancer Medicine, 2020
Predictable CRISPR/Cas9-Mediated COL7A1 Reframing for Dystrophic Epidermolysis Bullosa.
Kocher T et al.
The Journal of Investigative Dermatology, 2020
Elucidating the pathogenesis of synchronous and metachronous tumors in a woman with endometrioid carcinomas using a whole-exome sequencing approach.
Wu RC et al.
Cold Spring Harbor Molecular Case Studies, 2017
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
Increased levels of matrix metalloproteinase-9 and interleukin-8 in blister fluids of dystrophic and junctional epidermolysis bullosa patients.
Lettner T et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2015
Exon 12 of the ATP2A2 gene in patients with Darier disease: one novel mutation and one previously described.
Shi BJ et al.
Journal of the European Academy of Dermatology and Venereology : Jeadv, 2015
Dystrophic epidermolysis bullosa: two case reports.
Dănescu S et al.
Romanian Journal of Morphology and Embryology = Revue Roumaine De Morphologie Et Embryologie, 2011
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
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
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
Molecular basis of dystrophic epidermolysis bullosa: mutations in the type VII collagen gene (COL7A1).
Järvikallio A et al.
Human Mutation, 1997
Influence of the second COL7A1 mutation in determining the phenotypic severity of recessive dystrophic epidermolysis bullosa.
Christiano AM et al.
The Journal of Investigative Dermatology, 1996