Literature DB >> 35862026

PLEKHM2 Loss-of-Function Is Associated With Dilated Cardiomyopathy.

Jessica Atkins1, Cortney Gensemer2, Kimberly Foil1, Jordan Morningstar2, Hannia Ramos1, Adrian B Van Bakel1, Russell A Norris2, Daniel P Judge1.   

Abstract

Entities:  

Keywords:  RNA splicing; autophagy-related proteins; cardiomyopathy, dilated; genetic testing; isolated noncompaction of the ventricular myocardium

Mesh：

Year:  2022        PMID： 35862026      PMCID： PMC9397371          DOI： 10.1161/CIRCGEN.121.003594

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


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  5 in total

1.  Generation and characterization of three human induced pluripotent stem cell lines (iPSC) from two family members with dilated cardiomyopathy and left ventricular noncompaction (DCM-LVNC) and one healthy heterozygote sibling.

Authors:  Hadas Ben-Zvi; Nataly Korover; Tatiana Rabinski; Rivka Ofir; Smadar Cohen
Journal:  Stem Cell Res       Date:  2021-05-05       Impact factor: 2.020

2.  PLEKHM2 mutation leads to abnormal localization of lysosomes, impaired autophagy flux and associates with recessive dilated cardiomyopathy and left ventricular noncompaction.

Authors:  Emad Muhammad; Aviva Levitas; Sonia R Singh; Alex Braiman; Rivka Ofir; Sharon Etzion; Val C Sheffield; Yoram Etzion; Lucie Carrier; Ruti Parvari
Journal:  Hum Mol Genet       Date:  2015-10-12       Impact factor: 6.150

Review 3.  Genetic Evaluation of Cardiomyopathy-A Heart Failure Society of America Practice Guideline.

Authors:  Ray E Hershberger; Michael M Givertz; Carolyn Y Ho; Daniel P Judge; Paul F Kantor; Kim L McBride; Ana Morales; Matthew R G Taylor; Matteo Vatta; Stephanie M Ware
Journal:  J Card Fail       Date:  2018-03-19       Impact factor: 5.712

Review 4.  Epidemiology of the inherited cardiomyopathies.

Authors:  William J McKenna; Daniel P Judge
Journal:  Nat Rev Cardiol       Date:  2020-09-07       Impact factor: 32.419

5.  Evidence-Based Assessment of Genes in Dilated Cardiomyopathy.

Authors:  Elizabeth Jordan; Laiken Peterson; Tomohiko Ai; Babken Asatryan; Lucas Bronicki; Emily Brown; Rudy Celeghin; Matthew Edwards; Judy Fan; Jodie Ingles; Cynthia A James; Olga Jarinova; Renee Johnson; Daniel P Judge; Najim Lahrouchi; Ronald H Lekanne Deprez; R Thomas Lumbers; Francesco Mazzarotto; Argelia Medeiros Domingo; Rebecca L Miller; Ana Morales; Brittney Murray; Stacey Peters; Kalliopi Pilichou; Alexandros Protonotarios; Christopher Semsarian; Palak Shah; Petros Syrris; Courtney Thaxton; J Peter van Tintelen; Roddy Walsh; Jessica Wang; James Ware; Ray E Hershberger
Journal:  Circulation       Date:  2021-05-05       Impact factor: 29.690
  5 in total

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