Associated Papers
Missense and Inframe Pathogenic Variants in PLEC Lead to Minimal or Delayed-Onset Muscular Dystrophy in Autosomal Recessive Epidermolysis Bullosa Simplex: A Genotype-Phenotype Correlation in Nine Cases.
Yang MC et al.
The Journal of Dermatology, 2025
Mutation update: The spectra of PLEC sequence variants and related plectinopathies.
Vahidnezhad H et al.
Human Mutation, 2022
Identifying Plectin Isoform Functions through Animal Models.
Castañón MJ et al.
Cells, 2021
An overview of the genetic basis of epidermolysis bullosa in Brazil: discovery of novel and recurrent disease-causing variants.
Mariath LM et al.
Clinical Genetics, 2019
Diagnostic Impact and Cost-effectiveness of Whole-Exome Sequencing for Ambulant Children With Suspected Monogenic Conditions.
Tan TY et al.
Jama Pediatrics, 2017
Epidermolysis bullosa simplex with muscular dystrophy associated with PLEC deletion mutation.
Alvarez VC et al.
Neurology. Genetics, 2016
Plectin mutations underlie epidermolysis bullosa simplex in 8% of patients.
Bolling MC et al.
The Journal of Investigative Dermatology, 2014
Epidermolysis bullosa simplex ogna revisited.
Kiritsi D et al.
The Journal of Investigative Dermatology, 2013
The many faces of plectin and plectinopathies: pathology and mechanisms.
Winter L et al.
Acta Neuropathologica, 2013
Targeted proteolysis of plectin isoform 1a accounts for hemidesmosome dysfunction in mice mimicking the dominant skin blistering disease EBS-Ogna.
Walko G et al.
Plos Genetics, 2011
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