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Genetic Animal Models for Arrhythmogenic Cardiomyopathy.
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- Frontiers in Physiology, 2020, v. 11, p. 1, doi. 10.3389/fphys.2020.00624
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- Article
Altered Expression of TMEM43 Causes Abnormal Cardiac Structure and Function in Zebrafish.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 17, p. 9530, doi. 10.3390/ijms23179530
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- Publication type:
- Article
Compound Heterozygous FKTN Variants in a Patient with Dilated Cardiomyopathy Led to an Aberrant α-Dystroglycan Pattern.
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- International Journal of Molecular Sciences, 2022, v. 23, n. 12, p. 6685, doi. 10.3390/ijms23126685
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- Article
The Double Mutation DSG2 -p.S363X and TBX20 -p.D278X Is Associated with Left Ventricular Non-Compaction Cardiomyopathy: Case Report.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 13, p. 6775, doi. 10.3390/ijms22136775
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- Article
Hemi- and Homozygous Loss-of-Function Mutations in DSG2 (Desmoglein-2) Cause Recessive Arrhythmogenic Cardiomyopathy with an Early Onset.
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- International Journal of Molecular Sciences, 2021, v. 22, n. 7, p. 3786, doi. 10.3390/ijms22073786
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- Article
Human Induced Pluripotent Stem-Cell-Derived Cardiomyocytes as Models for Genetic Cardiomyopathies.
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- International Journal of Molecular Sciences, 2019, v. 20, n. 18, p. 4381, doi. 10.3390/ijms20184381
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- Publication type:
- Article
Desminopathy: Novel Desmin Variants, a New Cardiac Phenotype, and Further Evidence for Secondary Mitochondrial Dysfunction.
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- Journal of Clinical Medicine, 2020, v. 9, n. 4, p. 937, doi. 10.3390/jcm9040937
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- Article
Genetic Insights into Primary Restrictive Cardiomyopathy.
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- Journal of Clinical Medicine, 2022, v. 11, n. 8, p. 2094, doi. 10.3390/jcm11082094
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- Publication type:
- Article
Functional characterization of desmin mutant p.P419S.
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- European Journal of Human Genetics, 2013, v. 21, n. 6, p. 589, doi. 10.1038/ejhg.2012.212
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- Article
Spatial transcriptomics unveils ZBTB11 as a regulator of cardiomyocyte degeneration in arrhythmogenic cardiomyopathy.
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- Cardiovascular Research, 2023, v. 119, n. 2, p. 477, doi. 10.1093/cvr/cvac072
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- Publication type:
- Article
RBM20 mutations in left ventricular non‐compaction cardiomyopathy.
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- Pediatric Investigation, 2020, v. 4, n. 1, p. 61, doi. 10.1002/ped4.12184
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- Article
A novel desmin (<italic>DES</italic>) indel mutation causes severe atypical cardiomyopathy in combination with atrioventricular block and skeletal myopathy.
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- Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 2, p. 288, doi. 10.1002/mgg3.358
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- Publication type:
- Article
The Desmin Mutation DES -c.735G>C Causes Severe Restrictive Cardiomyopathy by Inducing In-Frame Skipping of Exon-3.
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- Biomedicines, 2021, v. 9, n. 10, p. 1400, doi. 10.3390/biomedicines9101400
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- Publication type:
- Article
The N-Terminal Part of the 1A Domain of Desmin Is a Hot Spot Region for Putative Pathogenic DES Mutations Affecting Filament Assembly.
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- Cells (2073-4409), 2022, v. 11, n. 23, p. 3906, doi. 10.3390/cells11233906
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- Publication type:
- Article
Cardiomyopathy‐associated mutations in the RS domain affect nuclear localization of RBM20.
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- Human Mutation, 2020, v. 41, n. 11, p. 1931, doi. 10.1002/humu.24096
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- Article
Back Cover, Volume 40, Issue 6.
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- Human Mutation, 2019, v. 40, n. 6, p. ii, doi. 10.1002/humu.23796
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- Article
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.
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- Human Mutation, 2019, v. 40, n. 6, p. 734, doi. 10.1002/humu.23747
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- Publication type:
- Article
The novel αB-crystallin ( CRYAB) mutation p.D109G causes restrictive cardiomyopathy.
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- Human Mutation, 2017, v. 38, n. 8, p. 947, doi. 10.1002/humu.23248
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- Article
Mutations in FLNC are Associated with Familial Restrictive Cardiomyopathy.
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- Human Mutation, 2016, v. 37, n. 3, p. 269, doi. 10.1002/humu.22942
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- Article
Incorporation of desmocollin‐2 into the plasma membrane requires N‐glycosylation at multiple sites.
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- FEBS Open Bio, 2019, v. 9, n. 5, p. 996, doi. 10.1002/2211-5463.12631
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- Article
De novo desmin-mutation N116S is associated with arrhythmogenic right ventricular cardiomyopathy.
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- Human Molecular Genetics, 2010, v. 19, n. 23, p. 4595, doi. 10.1093/hmg/ddq387
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- Article
The Combined Human Genotype of Truncating TTN and RBM20 Mutations Is Associated with Severe and Early Onset of Dilated Cardiomyopathy.
- Published in:
- Genes, 2021, v. 13, n. 6, p. 883, doi. 10.3390/genes12060883
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- Article
Special Issue "Cardiovascular Genetics".
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- 2021
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- Publication type:
- Editorial
Insights on the Pathogenesis of Aneurysm through the Study of Hereditary Aortopathies.
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- Genes, 2021, v. 12, n. 2, p. 183, doi. 10.3390/genes12020183
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- Publication type:
- Article
The Desmin (DES) Mutation p.A337P Is Associated with Left-Ventricular Non-Compaction Cardiomyopathy.
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- Genes, 2021, v. 12, n. 1, p. 121, doi. 10.3390/genes12010121
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- Article
Distinct Myocardial Transcriptomic Profiles of Cardiomyopathies Stratified by the Mutant Genes.
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- Genes, 2020, v. 11, n. 12, p. 1430, doi. 10.3390/genes11121430
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- Article
Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect.
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- Genes, 2019, v. 10, n. 11, p. 918, doi. 10.3390/genes10110918
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- Article
Screening for mutations in human cardiomyopathy- is RBM24 a new but rare disease gene?
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- Protein & Cell, 2019, v. 10, n. 6, p. 393, doi. 10.1007/s13238-018-0590-z
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- Article
Transgenic mice overexpressing desmocollin-2 (DSC2) develop cardiomyopathy associated with myocardial inflammation and fibrotic remodeling.
- Published in:
- PLoS ONE, 2017, v. 12, n. 3, p. 1, doi. 10.1371/journal.pone.0174019
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- Article