Epidermolysis bullosa simplex withPLECmutations: new phenotypes and new mutations

Interaction of plectin and intermediate filaments

(2012) Tadashi Karashima et al.   JOURNAL OF DERMATOLOGICAL SCIENCE

Epidermolysis bullosa with late-onset muscular dystrophy and plectin deficiency

(2011) Eppie M. Yiu et al.   MUSCLE & NERVE

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

Epidermolysis Bullosa Simplex with Muscular Dystrophy

(2010) C. Chiavérini et al.   DERMATOLOGIC CLINICS

Plectin expression patterns determine two distinct subtypes of epidermolysis bullosa simplex

(2010) Ken Natsuga et al.   HUMAN MUTATION

Plectin deficiency leads to both muscular dystrophy and pyloric atresia in epidermolysis bullosa simplex

(2010) Ken Natsuga et al.   HUMAN MUTATION

Nonsense-mediated mRNA decay in human cells: mechanistic insights, functions beyond quality control and the double-life of NMD factors

(2009) Pamela Nicholson et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Plectin Gene Defects Lead to Various Forms of Epidermolysis Bullosa Simplex

(2009) Günther A. Rezniczek et al.   DERMATOLOGIC CLINICS

Epidermolysis Bullosa with Pyloric Atresia

(2009) Hye Jin Chung et al.   DERMATOLOGIC CLINICS

Structural basis of the interaction between integrin α6β4 and plectin at the hemidesmosomes

(2009) José M de Pereda et al.   EMBO JOURNAL

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

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

The classification of inherited epidermolysis bullosa (EB): Report of the Third International Consensus Meeting on Diagnosis and Classification of EB

(2008) Jo-David Fine et al.   JOURNAL OF THE AMERICAN ACADEMY OF DERMATOLOGY