Associated Papers
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric central nervous system tumors.
Corbett RJ et al.
Nature Communications, 2025
Germline pathogenic variation impacts somatic alterations and patient outcomes in pediatric CNS tumors.
Corbett RJ et al.
Medrxiv : the Preprint Server for Health Sciences, 2025
Clinical and Allelic Heterogeneity in a Small Cohort of Patients with Inherited Epidermolysis Bullosa.
Buianova AA et al.
International Journal of Molecular Sciences, 2025
Clinical and Genetic Findings in Patients With Palmoplantar Keratoderma.
Gram SB et al.
Jama Dermatology, 2025
Gonadal Mosaicism as a Rare Inheritance Pattern in Recessive Genodermatoses: Report of Two Cases with Pseudoxanthoma Elasticum and Literature Review.
Dangreau L et al.
Current Issues in Molecular Biology, 2024
Genomic characteristics and immune landscape of super multiple primary lung cancer.
Yang Z et al.
Ebiomedicine, 2024
Missense Variant c.3301C>T (p.R1101W) in von Willebrand Factor A Sequence in a Patient with Recessive Dystrophic Epidermolysis Bullosa Pruriginosa with Compound Heterozygous COL7A1 Variants.
Kwon HJ et al.
Annals of Dermatology, 2023
Clinical and allelic heterogeneity in dystrophic epidermolysis bullosa- lessons from an Indian cohort.
Gupta D et al.
Plos One, 2023
Therapeutic base editing and prime editing of COL7A1 mutations in recessive dystrophic epidermolysis bullosa.
Hong SA et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2022
Case of intermediate recessive dystrophic epidermolysis bullosa with negative LH7.2 staining.
Yoshida K et al.
The Journal of Dermatology, 2020
Natural Exon Skipping Sets the Stage for Exon Skipping as Therapy for Dystrophic Epidermolysis Bullosa.
Bremer J et al.
Molecular Therapy. Nucleic Acids, 2019
Splice site mutation in COL7A1 resulting in aberrant in-frame transcripts identified in a case of recessive dystrophic epidermolysis bullosa, pretibial.
Masunaga T et al.
The Journal of Dermatology, 2018
Amlexanox Enhances Premature Termination Codon Read-Through in COL7A1 and Expression of Full Length Type VII Collagen: Potential Therapy for Recessive Dystrophic Epidermolysis Bullosa.
Atanasova VS et al.
The Journal of Investigative Dermatology, 2017
Inherited epidermolysis bullosa and squamous cell carcinoma: a systematic review of 117 cases.
Montaudié H et al.
Orphanet Journal of Rare Diseases, 2016
Aminoglycosides restore full-length type VII collagen by overcoming premature termination codons: therapeutic implications for dystrophic epidermolysis bullosa.
Cogan J et al.
Molecular Therapy : the Journal of the American Society of Gene Therapy, 2014
De novo anti-type VII collagen antibodies in patients with recessive dystrophic epidermolysis bullosa.
Woodley DT et al.
The Journal of Investigative Dermatology, 2014
[Hereditary palmoplantar keratoderma - a focus on clinical and molecular genetic aspects].
Kamaleswaran S et al.
Ugeskrift for Laeger, 2014
Interpretation of mRNA splicing mutations in genetic disease: review of the literature and guidelines for information-theoretical analysis.
Caminsky N et al.
F1000research, 2014
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
Cetuximab therapy of metastasizing cutaneous squamous cell carcinoma in a patient with severe recessive dystrophic epidermolysis bullosa.
Arnold AW et al.
Dermatology (basel, Switzerland), 2009
Mutation analysis and characterization of COL7A1 mutations in dystrophic epidermolysis bullosa.
Dang N et al.
Experimental Dermatology, 2008
COL7A1 mutational analysis in Korean patients with dystrophic epidermolysis bullosa.
Oh SW et al.
The British Journal of 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
Genotype-phenotype correlation in recessive dystrophic epidermolysis bullosa: when missense doesn't make sense.
Wessagowit V et al.
The Journal of Investigative Dermatology, 2005
Dystrophic epidermolysis bullosa complicated by cutaneous squamous cell carcinoma and pulmonary and renal amyloidosis.
Csikós M et al.
Clinical and Experimental Dermatology, 2003
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
[Dystrophic epidermolysis bullosa].
Gol'dshteĭn LM et al.
Vestnik Dermatologii I Venerologii, 1976