Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex

Inherited epidermolysis bullosa: Updated recommendations on diagnosis and classification

(2014) Jo-David Fine et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY

Epidermolysis bullosa simplex withPLECmutations: new phenotypes and new mutations

(2013) A. Charlesworth et al.   BRITISH JOURNAL OF DERMATOLOGY

Plectin–intermediate filament partnership in skin, skeletal muscle, and peripheral nerve

(2013) Maria J. Castañón et al.   HISTOCHEMISTRY AND CELL BIOLOGY

Plectin Mutations Underlie Epidermolysis Bullosa Simplex in 8% of Patients

(2013) Marieke C. Bolling et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY

The many faces of plectin and plectinopathies: pathology and mechanisms

(2012) Lilli Winter et al.   ACTA NEUROPATHOLOGICA

Myasthenic syndrome caused by plectinopathy

(2011) D. Selcen et al.   NEUROLOGY

Targeted Proteolysis of Plectin Isoform 1a Accounts for Hemidesmosome Dysfunction in Mice Mimicking the Dominant Skin Blistering Disease EBS-Ogna

(2011) Gernot Walko et al.   PLoS Genetics

Mutation in Exon 1f of PLEC, Leading to Disruption of Plectin Isoform 1f, Causes Autosomal-Recessive Limb-Girdle Muscular Dystrophy

(2010) Hulya Gundesli et al.   AMERICAN JOURNAL OF HUMAN GENETICS

TATA box polymorphisms in human gene promoters and associated hereditary pathologies

(2009) L. K. Savinkova et al.   BIOCHEMISTRY-MOSCOW

PLEC1 Mutations Underlie Adult-Onset Dilated Cardiomyopathy in Epidermolysis Bullosa Simplex with Muscular Dystrophy

(2009) Maria C. Bolling et al.   JOURNAL OF INVESTIGATIVE DERMATOLOGY