Associated Papers
Using the Reactome Graph Database to generate pathway fingerprints for cancer-related genes, and using the fingerprints to gain insights into cancer, comorbidity, and cancer gene networks.
Iengar P et al.
Computational Biology and Chemistry, 2026
Genetic profiling of epidermolysis bullosa in a large Brazilian cohort.
Ota VK et al.
Clinical and Experimental Dermatology, 2025
Identification of deep intronic variants in junctional epidermolysis bullosa using genome sequencing and splicing assays.
Chen F et al.
Npj Genomic Medicine, 2025
Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.
Jain R et al.
Genetics in Medicine Open, 2025
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.
Hany U et al.
Journal of Medical Genetics, 2024
Full-thickness Skin Grafts for Hand Contractures in an Adult Patient with Junctional Epidermolysis Bullosa: A Case Report.
Nakamura S et al.
Journal of Plastic and Reconstructive Surgery, 2023
Functional analysis of Collagen 17a1: A genetic modifier of junctional epidermolysis bullosa in mice.
Sproule TJ et al.
Plos One, 2023
Collagen XVII deficiency alters epidermal patterning.
Wang Y et al.
Laboratory Investigation; a Journal of Technical Methods and Pathology, 2022
Epidermolysis Bullosa-A Different Genetic Approach in Correlation with Genetic Heterogeneity.
Pânzaru MC et al.
Diagnostics (basel, Switzerland), 2022
Genotypic and phenotypic analysis of 34 cases of inherited junctional epidermolysis bullosa caused by COL17A1 mutations.
Hérissé AL et al.
The British Journal of Dermatology, 2021
Genotypic and Phenotypic Analysis of 34 Cases of Inherited Junctional Epidermolysis Bullosa caused by COL17A1 Mutations.
Charlesworth A et al.
The British Journal of Dermatology, 2020
Collagen XVII Processing and Blistering Skin Diseases.
Nishie W
Acta Dermato-venereologica, 2020
Amino acid substitution in the C-terminal domain of collagen XVII reduces laminin-332 interaction causing mild skin fragility with atrophic scarring.
Kroeger J et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2019
Junctional Epidermolysis Bullosa: Allelic Heterogeneity and Mutation Stratification for Precision Medicine.
Condrat I et al.
Frontiers in Medicine, 2018
Research Techniques Made Simple: Immunofluorescence Antigen Mapping in Epidermolysis Bullosa.
Has C et al.
The Journal of Investigative Dermatology, 2016
Extracellular cleavage of collagen XVII is essential for correct cutaneous basement membrane formation.
Nishimura M et al.
Human Molecular Genetics, 2016
Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.
Holehouse AS et al.
Plos One, 2015
Secrets of the cutaneous basement membrane.
Karpati S
The Journal of Investigative Dermatology, 2014
Molecular identification of collagen 17a1 as a major genetic modifier of laminin gamma 2 mutation-induced junctional epidermolysis bullosa in mice.
Sproule TJ et al.
Plos Genetics, 2014
Late-onset skin fragility in childhood: a case of junctional epidermolysis bullosa of late onset caused by a missense mutation in COL17A1.
Vanotti S et al.
The British Journal of Dermatology, 2013
Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.
Kiritsi D et al.
Journal of Medical Genetics, 2011
Junctional epidermolysis bullosa of late onset explained by mutations in COL17A1.
Yuen WY et al.
The British Journal of Dermatology, 2011
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Localized and generalized forms of blistering in junctional epidermolysis bullosa due to COL17A1 mutations in the Netherlands.
Pasmooij AM et al.
The British Journal of Dermatology, 2007
Protein structural analysis of BP180 mutant isoforms linked to non-Herlitz junctional epidermolysis bullosa.
Fu CL et al.
The Journal of Investigative Dermatology, 2006
Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy.
Bauer JW et al.
Clinical and Experimental Dermatology, 2003
Hereditary skin diseases of hemidesmosomes.
Jonkman MF
Journal of Dermatological Science, 1999
Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa.
Floeth M et al.
The Journal of Investigative Dermatology, 1998
Three novel homozygous point mutations and a new polymorphism in the COL17A1 gene: relation to biological and clinical phenotypes of junctional epidermolysis bullosa.
Schumann H et al.
American Journal of Human Genetics, 1997
Cloning of the human type XVII collagen gene (COL17A1), and detection of novel mutations in generalized atrophic benign epidermolysis bullosa.
Gatalica B et al.
American Journal of Human Genetics, 1997
Precision medicine using whole genome sequencing in a cat identifies a novel COL5A1 variant for classical Ehlers-Danlos syndrome.
McElroy A et al.
Journal of Veterinary Internal Medicine, 0
Hemidesmosomal variants of epidermolysis bullosa. Mutations in the alpha6beta4 integrin and the 180-kD bullous pemphigoid antigen/type XVII collagen genes.
Pulkkinen L et al.
Experimental Dermatology, 0