Detalhe da pesquisa
1.
Altered Expression of TMEM43 Causes Abnormal Cardiac Structure and Function in Zebrafish.
Int J Mol Sci
; 23(17)2022 Aug 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-36076925
2.
Compound Heterozygous FKTN Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant α-Dystroglycan Pattern.
Int J Mol Sci
; 23(12)2022 Jun 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35743126
3.
Insights Into Genetics and Pathophysiology of Arrhythmogenic Cardiomyopathy.
Curr Heart Fail Rep
; 18(6): 378-390, 2021 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-34478111
4.
The Double Mutation DSG2-p.S363X and TBX20-p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report.
Int J Mol Sci
; 22(13)2021 Jun 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-34202524
5.
Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset.
Int J Mol Sci
; 22(7)2021 Apr 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-33917638
6.
A homozygous DSC2 deletion associated with arrhythmogenic cardiomyopathy is caused by uniparental isodisomy.
J Mol Cell Cardiol
; 141: 17-29, 2020 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-32201174
7.
Cardiomyopathy-associated mutations in the RS domain affect nuclear localization of RBM20.
Hum Mutat
; 41(11): 1931-1943, 2020 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-32840935
8.
In vitro analysis of arrhythmogenic cardiomyopathy associated desmoglein-2 (DSG2) mutations reveals diverse glycosylation patterns.
J Mol Cell Cardiol
; 129: 303-313, 2019 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-30885746
9.
Noncompaction cardiomyopathy is caused by a novel in-frame desmin (DES) deletion mutation within the 1A coiled-coil rod segment leading to a severe filament assembly defect.
Hum Mutat
; 40(6): 734-741, 2019 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-30908796
10.
Novel Desmin Mutation p.Glu401Asp Impairs Filament Formation, Disrupts Cell Membrane Integrity, and Causes Severe Arrhythmogenic Left Ventricular Cardiomyopathy/Dysplasia.
Circulation
; 137(15): 1595-1610, 2018 04 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-29212896
11.
Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.
Int J Mol Sci
; 20(18)2019 Sep 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-31489928
12.
The novel αB-crystallin (CRYAB) mutation p.D109G causes restrictive cardiomyopathy.
Hum Mutat
; 38(8): 947-952, 2017 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-28493373
13.
Functional characterization of the novel DES mutation p.L136P associated with dilated cardiomyopathy reveals a dominant filament assembly defect.
J Mol Cell Cardiol
; 91: 207-14, 2016 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-26724190
14.
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.
Hum Mutat
; 37(3): 269-79, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26666891
15.
Functional analysis of DES-p.L398P and RBM20-p.R636C.
Genet Med
; 21(5): 1246-1247, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-30262925
16.
Phenotype and Clinical Outcomes in Desmin-Related Arrhythmogenic Cardiomyopathy.
JACC Clin Electrophysiol
; 2024 Apr 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-38727660
17.
Dual color photoactivation localization microscopy of cardiomyopathy-associated desmin mutants.
J Biol Chem
; 287(19): 16047-57, 2012 May 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-22403400
18.
The Consideration of Pseudoxanthoma Elasticum as a Progeria Syndrome.
Front Biosci (Landmark Ed)
; 28(3): 55, 2023 03 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-37005749
19.
Cardiomyopathy related desmocollin-2 prodomain variants affect the intracellular cadherin transport and processing.
Front Cardiovasc Med
; 10: 1127261, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37273868
20.
Spatial transcriptomics unveils ZBTB11 as a regulator of cardiomyocyte degeneration in arrhythmogenic cardiomyopathy.
Cardiovasc Res
; 119(2): 477-491, 2023 03 31.
Artigo
em Inglês
| MEDLINE | ID: mdl-35576477