Literature DB >> 33079602

Left-Dominant Arrhythmogenic Cardiomyopathy, Palmoplantar Keratoderma, and Curly Hair Associated With a Rare Autosomal Dominant Truncating Variant in Desmoplakin.

Nosheen Reza1, Lily Hoffman-Andrews1, Jessica L Chowns1, Amy Marzolf1, Bridget E Shields2, Anjali Tiku Owens1.   

Abstract

Entities:  

Keywords:  cardiomyopathy; desmoplakin; dilation; gadolinium; genetic testing

Year:  2020        PMID： 33079602      PMCID： PMC7583655          DOI： 10.1161/CIRCGEN.120.003017

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


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  5 in total

1.  Genotype-specific pattern of LV involvement in ARVD/C.

Authors:  Anneline S J M Te Riele; Aditya Bhonsale; Jeremy R Burt; Stefan L Zimmerman; Harikrishna Tandri
Journal:  JACC Cardiovasc Imaging       Date:  2012-08

2.  Recessive mutation in desmoplakin disrupts desmoplakin-intermediate filament interactions and causes dilated cardiomyopathy, woolly hair and keratoderma.

Authors:  E E Norgett; S J Hatsell; L Carvajal-Huerta; J C Cabezas; J Common; P E Purkis; N Whittock; I M Leigh; H P Stevens; D P Kelsell
Journal:  Hum Mol Genet       Date:  2000-11-01       Impact factor: 6.150

3.  Loss-of-function desmoplakin I and II mutations underlie dominant arrhythmogenic cardiomyopathy with a hair and skin phenotype.

Authors:  T Maruthappu; A Posafalvi; S Castelletti; P J Delaney; P Syrris; E A O'Toole; K J Green; P M Elliott; P D Lambiase; A Tinker; W J McKenna; D P Kelsell
Journal:  Br J Dermatol       Date:  2019-01-02       Impact factor: 9.302

4.  Genetic Risk of Arrhythmic Phenotypes in Patients With Dilated Cardiomyopathy.

Authors:  Marta Gigli; Marco Merlo; Sharon L Graw; Giulia Barbati; Teisha J Rowland; Dobromir B Slavov; Davide Stolfo; Mary E Haywood; Matteo Dal Ferro; Alessandro Altinier; Federica Ramani; Francesca Brun; Andrea Cocciolo; Ilaria Puggia; Gaetano Morea; William J McKenna; Francisco G La Rosa; Matthew R G Taylor; Gianfranco Sinagra; Luisa Mestroni
Journal:  J Am Coll Cardiol       Date:  2019-09-17       Impact factor: 24.094

5.  Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Authors:  Roddy Walsh; Kate L Thomson; James S Ware; Birgit H Funke; Jessica Woodley; Karen J McGuire; Francesco Mazzarotto; Edward Blair; Anneke Seller; Jenny C Taylor; Eric V Minikel; Daniel G MacArthur; Martin Farrall; Stuart A Cook; Hugh Watkins
Journal:  Genet Med       Date:  2016-08-17       Impact factor: 8.822
  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.  Cardiovascular Characteristics of Patients with Genetic Variation in Desmoplakin (DSP).

Authors:  Nosheen Reza; Alejandro de Feria; Jessica L Chowns; Lily Hoffman-Andrews; Laura Vann; Jessica Kim; Amy Marzolf; Anjali Tiku Owens
Journal:  Cardiogenetics       Date:  2022-01-06
  2 in total

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