A Compound Heterozygous One Amino-Acid Insertion/Nonsense Mutation in the Plectin Gene Causes Epidermolysis Bullosa Simplex with Plectin Deficiency
Open Access
- 1 February 2001
- journal article
- case report
- Published by Elsevier in The American Journal of Pathology
- Vol. 158 (2), 617-625
- https://doi.org/10.1016/s0002-9440(10)64003-5
Abstract
No abstract availableKeywords
This publication has 26 references indexed in Scilit:
- Epidermolysis Bullosa: Novel and De Novo Premature Termination Codon and Deletion Mutations in the Plectin Gene Predict Late-Onset Muscular DystrophyJournal of Investigative Dermatology, 2000
- Association of Mitochondria with Plectin and Desmin Intermediate Filaments in Striated MuscleExperimental Cell Research, 1999
- Hemidesmosome Formation Is Initiated by the β4 Integrin Subunit, Requires Complex Formation of β4 and HD1/Plectin, and Involves a Direct Interaction between β4 and the Bullous Pemphigoid Antigen 180The Journal of cell biology, 1998
- Linking Integrin α6β4-based Cell Adhesion to the Intermediate Filament Cytoskeleton: Direct Interaction between the β4 Subunit and Plectin at Multiple Molecular SitesThe Journal of cell biology, 1998
- Basic amino acid residue cluster within nuclear targeting sequence motif is essential for cytoplasmic plectin-vimentin network junctions.The Journal of cell biology, 1996
- Plectin deficiency results in muscular dystrophy with epidermolysis bullosaNature Genetics, 1996
- Loss of plectin causes epidermolysis bullosa with muscular dystrophy: cDNA cloning and genomic organization.Genes & Development, 1996
- Developmental regulation of micro-injected histone genes in sea urchin embryosDevelopmental Biology, 1988
- A Simple Methylene Blue-Azure Ii-Basic Fuchsin Stain for Epoxy-Embedded Tissue SectionsStain Technology, 1974
- A SIMPLIFIED LEAD CITRATE STAIN FOR USE IN ELECTRON MICROSCOPYThe Journal of cell biology, 1965