De novo mutation in desmin gene causing dilated cardiomyopathy requiring ECMO treatment: A clinical report-Reference-Cited by-同舟云学术

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De novo mutation in desmin gene causing dilated cardiomyopathy requiring ECMO treatment: A clinical report

Published:2024-02 Issue: Volume:39 Page:201265
ISSN:2773-0441
Container-title:Human Gene
language:en
Short-container-title:Human Gene

Author:

Bučić Dinea,Bakoš Matija,Ramadža Danijela Petković,Bartoniček Dorotea,Dilber Daniel,Rubić Filip,Belina Dražen,Rako Ivana,Jerčić Kristina Gotovac,Borovečki Fran,Jakovčević Antonia,Barić Ivo,Žigman Tamara

Publisher

Elsevier BV

Reference21 articles.

1. The novel Desmin mutant p.A120D impairs filament formation, prevents intercalated disk localization, and causes sudden cardiac death;Brodehl;Circ. Cardiovasc. Genet.,2013

2. Molecular insights into cardiomyopathies associated with desmin (DES) mutations;Brodehl;Biophys. Rev.,2018

3. Restrictive cardiomyopathy is caused by a Novel Homozygous Desmin (DES) mutation p.Y122H leading to a severe filament assembly defect;Brodehl;Genes (Basel),2019

4. The N-terminal part of the 1A domain of Desmin is a hot spot region for putative pathogenic DES mutations affecting filament assembly;Brodehl;Cells.,2022

5. Desminopathies: pathology and mechanisms;Clemen;Acta Neuropathol.,2013

Cited by 1 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Desmin-p.Y122S affects the filament formation and causes aberrant cytoplasmic desmin aggregation;Human Gene;2024-09

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