Associated Papers
Identification of deep intronic variants in junctional epidermolysis bullosa using genome sequencing and splicing assays.
Chen F et al.
Npj Genomic Medicine, 2025
Heterozygous COL17A1 variants are a frequent cause of amelogenesis imperfecta.
Hany U et al.
Journal of Medical Genetics, 2024
Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta.
Yoshioka H et al.
International Journal of Molecular Sciences, 2021
Amelogenesis Imperfecta: 1 Family, 2 Phenotypes, and 2 Mutated Genes.
Prasad MK et al.
Journal of Dental Research, 2016
Carriers with functional null mutations in LAMA3 have localized enamel abnormalities due to haploinsufficiency.
Gostyńska KB et al.
European Journal of Human Genetics : Ejhg, 2016
LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta.
Kim JW et al.
Journal of Dental Research, 2013
Enamel defects in carriers of a novel LAMA3 mutation underlying epidermolysis bullosa.
Yuen WY et al.
Acta Dermato-venereologica, 2012
Autosomal dominant junctional epidermolysis bullosa.
Almaani N et al.
The British Journal of Dermatology, 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
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
Epidermolysis bullosa. I. Molecular genetics of the junctional and hemidesmosomal variants.
Varki R et al.
Journal of Medical Genetics, 2006
Analysis of the COL17A1 in non-Herlitz junctional epidermolysis bullosa and amelogenesis imperfecta.
Nakamura H et al.
International Journal of Molecular Medicine, 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
Type XVII collagen gene mutations in junctional epidermolysis bullosa and prospects for gene therapy.
Bauer JW et al.
Clinical and Experimental Dermatology, 2003
A disease-associated glycine substitution in BP180 (type XVII collagen) leads to a local destabilization of the major collagen triple helix.
Olague-Marchan M et al.
Matrix Biology : Journal of the International Society for Matrix Biology, 2000
Collagen XVII is destabilized by a glycine substitution mutation in the cell adhesion domain Col15.
Tasanen K et al.
The Journal of Biological Chemistry, 2000
Digenic junctional epidermolysis bullosa: mutations in COL17A1 and LAMB3 genes.
Floeth M et al.
American Journal of Human Genetics, 1999
Novel homozygous and compound heterozygous COL17A1 mutations associated with junctional epidermolysis bullosa.
Floeth M et al.
The Journal of Investigative Dermatology, 1998
180-kDa bullous pemphigoid antigen defective generalized atrophic benign epidermolysis bullosa: report of four cases with an unusually mild phenotype.
Mazzanti C et al.
The British Journal of Dermatology, 1998
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