Literature DB >> 23774525

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

Marieke C Bolling1, Jan D H Jongbloed2, Ludolf G Boven2, Gilles F H Diercks1, Frances J D Smith3, W H Irwin McLean3, Marcel F Jonkman4.   

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Year:  2013        PMID： 23774525     DOI： 10.1038/jid.2013.277

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  15 in total

1.  Epidermolysis bullosa simplex ogna revisited.

Authors:  Dimitra Kiritsi; Manuela Pigors; Iliana Tantcheva-Poor; Cordula Wessel; Meral Julia Arin; Jürgen Kohlhase; Leena Bruckner-Tuderman; Cristina Has
Journal:  J Invest Dermatol       Date:  2012-08-02       Impact factor: 8.551

2.  Plectin repeats and modules: strategic cysteines and their presumed impact on cytolinker functions.

Authors:  L Janda; J Damborský; G A Rezniczek; G Wiche
Journal:  Bioessays       Date:  2001-11       Impact factor: 4.345

3.  Mutations in KRT5 and KRT14 cause epidermolysis bullosa simplex in 75% of the patients.

Authors:  M C Bolling; H H Lemmink; G H L Jansen; M F Jonkman
Journal:  Br J Dermatol       Date:  2011-02-17       Impact factor: 9.302

4.  Epidermolysis bullosa simplex in Scotland caused by a spectrum of keratin mutations.

Authors:  Elizabeth L Rugg; Helen M Horn; Frances J Smith; Neil J Wilson; Alison J M Hill; Gareth J Magee; Carrie S Shemanko; David U Baty; Michael J Tidman; E Birgitte Lane
Journal:  J Invest Dermatol       Date:  2006-10-12       Impact factor: 8.551

5.  Plectin abnormality in epidermolysis bullosa simplex Ogna: non-responsiveness of basal keratinocytes to some anti-rat plectin antibodies.

Authors:  D Koss-Harnes; F L Jahnsen; G Wiche; E Søyland; P Brandtzaeg; T Gedde-Dahl
Journal:  Exp Dermatol       Date:  1997-02       Impact factor: 3.960

6.  Point mutations in human keratin 14 genes of epidermolysis bullosa simplex patients: genetic and functional analyses.

Authors:  P A Coulombe; M E Hutton; A Letai; A Hebert; A S Paller; E Fuchs
Journal:  Cell       Date:  1991-09-20       Impact factor: 41.582

Review 7.  Plakins in development and disease.

Authors:  Arnoud Sonnenberg; Ronald K H Liem
Journal:  Exp Cell Res       Date:  2007-04-19       Impact factor: 3.905

8.  Plectin-RACK1 (receptor for activated C kinase 1) scaffolding: a novel mechanism to regulate protein kinase C activity.

Authors:  Selma Osmanagic-Myers; Gerhard Wiche
Journal:  J Biol Chem       Date:  2004-02-14       Impact factor: 5.157

9.  Dose-dependent linkage, assembly inhibition and disassembly of vimentin and cytokeratin 5/14 filaments through plectin's intermediate filament-binding domain.

Authors:  F A Steinböck; B Nikolic; P A Coulombe; E Fuchs; P Traub; G Wiche
Journal:  J Cell Sci       Date:  2000-02       Impact factor: 5.285

Review 10.  The many faces of plectin and plectinopathies: pathology and mechanisms.

Authors:  Lilli Winter; Gerhard Wiche
Journal:  Acta Neuropathol       Date:  2012-08-03       Impact factor: 17.088
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  12 in total

1.  Flies With Skin Blisters.

Authors:  Matias Simons
Journal:  J Invest Dermatol       Date:  2015-08       Impact factor: 8.551

2.  Epidermolysis bullosa simplex in sibling Eurasier dogs is caused by a PLEC non-sense variant.

Authors:  Elizabeth A Mauldin; Ping Wang; Thierry Olivry; Paula S Henthorn; Margret L Casal
Journal:  Vet Dermatol       Date:  2016-11-07       Impact factor: 1.589

3.  Monoallelic Mutations in the Translation Initiation Codon of KLHL24 Cause Skin Fragility.

Authors:  Yinghong He; Kristin Maier; Juna Leppert; Ingrid Hausser; Agnes Schwieger-Briel; Lisa Weibel; Martin Theiler; Dimitra Kiritsi; Hauke Busch; Melanie Boerries; Katariina Hannula-Jouppi; Hannele Heikkilä; Kaisa Tasanen; Daniele Castiglia; Giovanna Zambruno; Cristina Has
Journal:  Am J Hum Genet       Date:  2016-11-23       Impact factor: 11.025

4.  Identification and Computational Analysis of Novel Pathogenic Variants in Pakistani Families with Diverse Epidermolysis Bullosa Phenotypes.

Authors:  Fehmida F Khan; Naima Khan; Sakina Rehman; Amir Ejaz; Uzma Ali; Muhammad Erfan; Zubair M Ahmed; Muhammad Naeem
Journal:  Biomolecules       Date:  2021-04-22

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

Authors:  Wei-Ting Tu; 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
Journal:  Acta Derm Venereol       Date:  2020-08-18       Impact factor: 3.875

Review 6.  Multiple roles for keratin intermediate filaments in the regulation of epithelial barrier function and apico-basal polarity.

Authors:  Pedro J Salas; Radia Forteza; Anastasia Mashukova
Journal:  Tissue Barriers       Date:  2016-05-02

Review 7.  Advances in understanding the molecular basis of skin fragility.

Authors:  Cristina Has
Journal:  F1000Res       Date:  2018-03-06

8.  Clinical practice guidelines for laboratory diagnosis of epidermolysis bullosa.

Authors:  C Has; L Liu; M C Bolling; A V Charlesworth; M El Hachem; M J Escámez; I Fuentes; S Büchel; R Hiremagalore; G Pohla-Gubo; P C van den Akker; K Wertheim-Tysarowska; G Zambruno
Journal:  Br J Dermatol       Date:  2019-08-09       Impact factor: 9.302

9.  Epidermolysis Bullosa in Chinese Patients: Genetic Analysis and Mutation Landscape in 57 Pedigrees and Sporadic Cases.

Authors:  Yueqian Yu; Zhenzhen Wang; Zihao Mi; Lele Sun; Xi'an Fu; Gongqi Yu; Zheng Pang; Hong Liu; Furen Zhang
Journal:  Acta Derm Venereol       Date:  2021-07-15       Impact factor: 3.875

10.  No major role for rare plectin variants in arrhythmogenic right ventricular cardiomyopathy.

Authors:  Edgar T Hoorntje; Anna Posafalvi; Petros Syrris; K Joeri van der Velde; Marieke C Bolling; Alexandros Protonotarios; Ludolf G Boven; Nuria Amat-Codina; Judith A Groeneweg; Arthur A Wilde; Nara Sobreira; Hugh Calkins; Richard N W Hauer; Marcel F Jonkman; William J McKenna; Perry M Elliott; Richard J Sinke; Maarten P van den Berg; Stephen P Chelko; Cynthia A James; J Peter van Tintelen; Daniel P Judge; Jan D H Jongbloed
Journal:  PLoS One       Date:  2018-08-30       Impact factor: 3.240
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