Associated Papers
Molecular insights into genodermatoses: Genetic findings from 43 patients.
Sama AD et al.
Archives of Dermatological Research, 2025
Strategy for the Optimization of Read-Through Therapy for Junctional Epidermolysis Bullosa with COL17A1 Nonsense Mutation.
Sayar SB et al.
The Journal of Investigative Dermatology, 2024
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.
Hany U et al.
Journal of Medical Genetics, 2024
Emerging Personalized Opportunities for Enhancing Translational Readthrough in Rare Genetic Diseases and Beyond.
Wagner RN et al.
International Journal of Molecular Sciences, 2023
Identification of novel susceptibility genes for non-syndromic cleft lip with or without cleft palate using NGS-based multigene panel testing.
Dąbrowska J et al.
Molecular Genetics and Genomics : Mgg, 2022
A Genome-Wide Scan on Individual Typology Angle Found Variants at SLC24A2 Associated with Skin Color Variation in Chinese Populations.
Wang F et al.
The Journal of Investigative Dermatology, 2022
Read-Through for Nonsense Mutations in Type XVII Collagen‒Deficient Junctional Epidermolysis Bullosa.
Has C et al.
The Journal of Investigative Dermatology, 2022
Revertant Mosaicism in Epidermolysis Bullosa.
Meyer-Mueller C et al.
Biomedicines, 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
Whole Exome Sequencing Confirms Molecular Diagnostics of Three Pakhtun Families With Autosomal Recessive Epidermolysis Bullosa.
Fozia F et al.
Frontiers in Pediatrics, 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
A "late-but-fitter revertant cell" explains the high frequency of revertant mosaicism in epidermolysis bullosa.
van den Akker PC et al.
Plos One, 2018
Junctional Epidermolysis Bullosa: Allelic Heterogeneity and Mutation Stratification for Precision Medicine.
Condrat I et al.
Frontiers in Medicine, 2018
Revertant mosaicism in genodermatoses.
Lim YH et al.
Cellular and Molecular Life Sciences : Cmls, 2017
Induced pluripotent stem cells from human revertant keratinocytes for the treatment of epidermolysis bullosa.
Umegaki-Arao N et al.
Science Translational Medicine, 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
Revertant mosaicism in heritable skin diseases: mechanisms of natural gene therapy.
Pasmooij AM et al.
Discovery Medicine, 2012
Natural gene therapy may occur in all patients with generalized non-Herlitz junctional epidermolysis bullosa with COL17A1 mutations.
Pasmooij AM et al.
The Journal of Investigative Dermatology, 2012
Molecular mechanisms of phenotypic variability in junctional epidermolysis bullosa.
Kiritsi D et al.
Journal of Medical Genetics, 2011
Revertant mosaicism in skin: natural gene therapy.
Lai-Cheong JE et al.
Trends in Molecular Medicine, 2011
PhenoHM: human-mouse comparative phenome-genome server.
Sardana D et al.
Nucleic Acids Research, 2010
Type XVII collagen is a key player in tooth enamel formation.
Asaka T et al.
The American Journal of Pathology, 2009
Retrospective diagnosis of fatal BP180-deficient non-Herlitz junctional epidermolysis bullosa suggested by immunofluorescence (IF) antigen-mapping of parental carriers bearing enamel defects.
Murrell DF et al.
The Journal of Investigative Dermatology, 2007
Mutation in Mpzl3, a novel [corrected] gene encoding a predicted [corrected] adhesion protein, in the rough coat (rc) mice with severe skin and hair abnormalities.
Cao T et al.
The Journal of Investigative Dermatology, 2007
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
Homozygosity mapping as a screening tool for the molecular diagnosis of hereditary skin diseases in consanguineous populations.
Mizrachi-Koren M et al.
Journal of the American Academy of Dermatology, 2006
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.
Varki R et al.
Journal of Medical Genetics, 2006
Molecular mechanisms of junctional epidermolysis bullosa: Col 15 domain mutations decrease the thermal stability of collagen XVII.
Väisänen L et al.
The Journal of Investigative Dermatology, 2005
Multiple correcting COL17A1 mutations in patients with revertant mosaicism of epidermolysis bullosa.
Pasmooij AM et al.
American Journal of Human Genetics, 2005
Gene therapy of epidermolysis bullosa.
Bauer JW et al.
Expert Opinion on Biological Therapy, 2004
Keratinocytes from patients lacking collagen XVII display a migratory phenotype.
Tasanen K et al.
The American Journal of Pathology, 2004
Molecular consequences of deletion of the cytoplasmic domain of bullous pemphigoid 180 in a patient with predominant features of epidermolysis bullosa simplex.
Fontao L et al.
The Journal of Investigative Dermatology, 2004
In vivo reversion to normal of inherited mutations in humans.
Hirschhorn R
Journal of Medical Genetics, 2003
Prenatal diagnosis for epidermolysis bullosa: a study of 144 consecutive pregnancies at risk.
Pfendner EG et al.
Prenatal Diagnosis, 2003
Genetic modifiers in human development and malformation syndromes, including chaperone proteins.
Slavotinek A et al.
Human Molecular Genetics, 2003
Beyond Mendel: an evolving view of human genetic disease transmission.
Badano JL et al.
Nature Reviews. Genetics, 2002
Deletion of the cytoplasmatic domain of BP180/collagen XVII causes a phenotype with predominant features of epidermolysis bullosa simplex.
Huber M et al.
The Journal of Investigative Dermatology, 2002
Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.
Floeth M et al.
American Journal of Human Genetics, 1999
Revertant mosaicism in human genetic disorders.
Jonkman MF
American Journal of Medical Genetics, 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
Revertant mosaicism in epidermolysis bullosa caused by mitotic gene conversion.
Jonkman MF et al.
Cell, 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
Molecular complexity of the cutaneous basement membrane zone. Revelations from the paradigms of epidermolysis bullosa.
Christiano AM et al.
Experimental Dermatology, 1996
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