Literature DB >> 32164419

Early Lethality Due to a Novel Desmoplakin Variant Causing Infantile Epidermolysis Bullosa Simplex With Fragile Skin, Aplasia Cutis Congenita, and Arrhythmogenic Cardiomyopathy.

Emmanuel M Camors1,2, Enkhsaikhan Purevjav1,2, John L Jefferies1, Jeffrey E Saffitz3, Nan Gong1, Thomas D Ryan1, Anne W Lucky4, Michael D Taylor1, Lisa M Sullivan5, Luisa Mestroni6, Jeffrey A Towbin1,2.   

Abstract

Entities:  

Keywords:  cardiomyopathy; desmoplakins; epidermolysis bullosa simplex; glycogen synthase kinase 3β; heart rate

Mesh：

Substances：

Year:  2020        PMID： 32164419      PMCID： PMC7176531          DOI： 10.1161/CIRCGEN.119.002800

Source DB:  PubMed          Journal:  Circ Genom Precis Med        ISSN： 2574-8300


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  5 in total

Review 1.  Inherited cardiomyopathies.

Authors:  Jeffrey A Towbin
Journal:  Circ J       Date:  2014-09-02       Impact factor: 2.993

Review 2.  Inherited epidermolysis bullosa: updated recommendations on diagnosis and classification.

Authors:  Jo-David Fine; Leena Bruckner-Tuderman; Robin A J Eady; Eugene A Bauer; Johann W Bauer; Cristina Has; Adrian Heagerty; Helmut Hintner; Alain Hovnanian; Marcel F Jonkman; Irene Leigh; M Peter Marinkovich; Anna E Martinez; John A McGrath; Jemima E Mellerio; Celia Moss; Dedee F Murrell; Hiroshi Shimizu; Jouni Uitto; David Woodley; Giovanna Zambruno
Journal:  J Am Acad Dermatol       Date:  2014-03-29       Impact factor: 11.527

3.  Loss of desmoplakin tail causes lethal acantholytic epidermolysis bullosa.

Authors:  Marcel F Jonkman; Anna M G Pasmooij; Suzanne G M A Pasmans; Maarten P van den Berg; Henk J Ter Horst; Albertus Timmer; Hendri H Pas
Journal:  Am J Hum Genet       Date:  2005-08-17       Impact factor: 11.025

4.  Epidermolytic palmoplantar keratoderma with woolly hair and dilated cardiomyopathy.

Authors:  L Carvajal-Huerta
Journal:  J Am Acad Dermatol       Date:  1998-09       Impact factor: 11.527

5.  GSK3- and PRMT-1-dependent modifications of desmoplakin control desmoplakin-cytoskeleton dynamics.

Authors:  Lauren V Albrecht; Lichao Zhang; Jeffrey Shabanowitz; Enkhsaikhan Purevjav; Jeffrey A Towbin; Donald F Hunt; Kathleen J Green
Journal:  J Cell Biol       Date:  2015-03-02       Impact factor: 10.539
  5 in total
  2 in total

1.  The clinical utility of pediatric cardiomyopathy genetic testing: From diagnosis to a precision medicine-based approach to care.

Authors:  Lauren E Parker; Andrew P Landstrom
Journal:  Prog Pediatr Cardiol       Date:  2021-07-01

2.  Progressive Reduction in Right Ventricular Contractile Function Attributable to Altered Actin Expression in an Aging Mouse Model of Arrhythmogenic Cardiomyopathy.

Authors:  Emmanuel M Camors; Alyson H Roth; Joseph R Alef; Ryan D Sullivan; Jason N Johnson; Enkhsaikhan Purevjav; Jeffrey A Towbin
Journal:  Circulation       Date:  2022-04-19       Impact factor: 39.918
  2 in total

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