Literature DB >> 32725257

Plectin Missense Mutation p.Leu319Pro in the Pathogenesis of Autosomal Recessive Epidermolysis Bullosa Simplex.

Wei-Ting Tu1, Peng-Chieh Chen, Ping-Chen Hou, Hsin-Yu Huang, Jing-Yu Wang, Sheau-Chiou Chao, Julia Yu-Yun Lee, John A McGrath, Ken Natsuga, Chao-Kai Hsu.   

Abstract

is missing (Short communication).

Entities:  

Keywords:  plectin; whole exome sequencing; epidermolysis bullosa

Mesh：

Substances：

Year:  2020        PMID： 32725257      PMCID： PMC9207625          DOI： 10.2340/00015555-3600

Source DB:  PubMed          Journal:  Acta Derm Venereol        ISSN： 0001-5555            Impact factor:   3.875


  10 in total

Review 1.  Progress in epidermolysis bullosa: the phenotypic spectrum of plectin mutations.

Authors:  E Pfendner; F Rouan; J Uitto
Journal:  Exp Dermatol       Date:  2005-04       Impact factor: 3.960

2.  PLEC1 mutations underlie adult-onset dilated cardiomyopathy in epidermolysis bullosa simplex with muscular dystrophy.

Authors:  Maria C Bolling; Hendri H Pas; Marianne de Visser; Eleonora Aronica; Ellen G Pfendner; Maarten P van den Berg; Gilles F H Diercks; Albert J H Suurmeijer; Marcel F Jonkman
Journal:  J Invest Dermatol       Date:  2009-12-17       Impact factor: 8.551

3.  A compound heterozygous one amino-acid insertion/nonsense mutation in the plectin gene causes epidermolysis bullosa simplex with plectin deficiency.

Authors:  J W Bauer; F Rouan; B Kofler; G A Rezniczek; I Kornacker; W Muss; R Hametner; A Klausegger; A Huber; G Pohla-Gubo; G Wiche; J Uitto; H Hintner
Journal:  Am J Pathol       Date:  2001-02       Impact factor: 4.307

4.  Loss of interaction between plectin and type XVII collagen results in epidermolysis bullosa simplex.

Authors:  Ken Natsuga; Wataru Nishie; Machiko Nishimura; Satoru Shinkuma; Mika Watanabe; Kentaro Izumi; Hideki Nakamura; Yoshiaki Hirako; Hiroshi Shimizu
Journal:  Hum Mutat       Date:  2017-10-06       Impact factor: 4.878

Review 5.  Plectin-related skin diseases.

Authors:  Ken Natsuga
Journal:  J Dermatol Sci       Date:  2014-11-28       Impact factor: 4.563

6.  Plectin-isoform-specific rescue of hemidesmosomal defects in plectin (-/-) keratinocytes.

Authors:  Kerstin Andrä; Iris Kornacker; Almut Jörgl; Michael Zörer; Daniel Spazierer; Peter Fuchs; Irmgard Fischer; Gerhard Wiche
Journal:  J Invest Dermatol       Date:  2003-02       Impact factor: 8.551

7.  Plectin mutations underlie epidermolysis bullosa simplex in 8% of patients.

Authors:  Marieke C Bolling; Jan D H Jongbloed; Ludolf G Boven; Gilles F H Diercks; Frances J D Smith; W H Irwin McLean; Marcel F Jonkman
Journal:  J Invest Dermatol       Date:  2013-06-17       Impact factor: 8.551

8.  Binding of integrin alpha6beta4 to plectin prevents plectin association with F-actin but does not interfere with intermediate filament binding.

Authors:  D Geerts; L Fontao; M G Nievers; R Q Schaapveld; P E Purkis; G N Wheeler; E B Lane; I M Leigh; A Sonnenberg
Journal:  J Cell Biol       Date:  1999-10-18       Impact factor: 10.539

9.  Formation of hemidesmosome-like structures in the absence of ligand binding by the (alpha)6(beta)4 integrin requires binding of HD1/plectin to the cytoplasmic domain of the (beta)4 integrin subunit.

Authors:  M G Nievers; I Kuikman; D Geerts; I M Leigh; A Sonnenberg
Journal:  J Cell Sci       Date:  2000-03       Impact factor: 5.285

Review 10.  Molecular architecture and function of the hemidesmosome.

Authors:  Gernot Walko; Maria J Castañón; Gerhard Wiche
Journal:  Cell Tissue Res       Date:  2014-12-09       Impact factor: 5.249
  10 in total
  1 in total

Review 1.  Keratins as an Inflammation Trigger Point in Epidermolysis Bullosa Simplex.

Authors:  Nadezhda A Evtushenko; Arkadii K Beilin; Anastasiya V Kosykh; Ekaterina A Vorotelyak; Nadya G Gurskaya
Journal:  Int J Mol Sci       Date:  2021-11-18       Impact factor: 5.923
  1 in total

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