A PLEC Isoform Identified in Skin, Muscle, and Heart-Reference-Cited by-同舟云学术

A PLEC Isoform Identified in Skin, Muscle, and Heart

Published:2017-02 Issue:2 Volume:137 Page:518-522
ISSN:0022-202X
Container-title:Journal of Investigative Dermatology
language:en
Short-container-title:Journal of Investigative Dermatology

Author:

Gostyńska Katarzyna B.,Lemmink Henny,Bremer Jeroen,Pas Hendri H.,Nijenhuis Miranda,van den Akker Peter C.,Sinke Richard J.,Jonkman Marcel F.,Pasmooij Anna M.G.

Publisher

Elsevier BV

Subject

Cell Biology,Dermatology,Molecular Biology,Biochemistry

Reference16 articles.

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2. Plectin mutations underlie epidermolysis bullosa simplex in 8% of patients;Bolling;J Invest Dermatol,2014

3. Unusual 5' transcript complexity of plectin isoforms: novel tissue-specific exons modulate actin binding activity;Fuchs;Hum Mol Genet,1999

4. Mutation in exon 1a of PLEC, leading to disruption of plectin isoform 1a, causes autosomal-recessive skin-only epidermolysis bullosa simplex;Gostynska;Hum Mol Genet,2015

5. The rod domain is not essential for the function of plectin in maintaining tissue integrity;Ketema;Mol Biol Cell,2015

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1. Novel PLEC variants associated with infantile cholestasis;Clinical Genetics;2024-08-21

2. Plectin Deficiency in Fibroblasts Deranges Intermediate Filament and Organelle Morphology, Migration, and Adhesion;Journal of Investigative Dermatology;2023-09

3. Mutation update: The spectra of PLEC sequence variants and related plectinopathies;Human Mutation;2022-07-29

4. Evaluation of Systemic Gentamicin as Translational Readthrough Therapy for a Patient With Epidermolysis Bullosa Simplex With Muscular Dystrophy Owing to PLEC1 Pathogenic Nonsense Variants;JAMA Dermatology;2022-04-01

5. Muscle-Related Plectinopathies;Cells;2021-09-19