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ProteomicsFunctional analysis of a gene-edited mouse to gain insights into the disease mechanisms of a TITIN missense variant
Aims: Pathogenic truncating variants in the largest human protein TITIN are a leading cause of dilated cardiomyopathy. Because of the size of the gene encoding TITIN, many missense variations are identified. These are difficult to evaluate in genetic testing, as even individually rare variants are c...
ORGANISM(S): Mus musculus (Mouse) 
2021-03-01 | PXD020390 | Pride
Proteomics Proteo-toxic response Telethonin Mouse model Proteasome Titin missense variant Cardiomyopathy 
GenomicsA Titin Missense Variant Causes Atrial Fibrillation
A Titin Missense Variant Causes Atrial Fibrillation
PRJNA1377605 | ENA
TranscriptomicsA Titin Missense Variant Causes Atrial Fibrillation
A single TTN point mutation- a missense variant ( TTN-T32756I) can impair sarcomere integrity and lead to atrial electrical remodeling, increasing AF- A link that needs investigation
ORGANISM(S): Homo sapiens 
2025-12-08 | GSE312917 | GEO
UnknownFunctional analysis of a gene-edited mouse model to gain insights into the disease mechanisms of a titin missense variant.
Not available
S-EPMC7910237 | biostudies-literature
TranscriptomicsRNA sequencing of wildtype and homozygous titin A178D mouse left ventricle samples
Truncating variants in titin can cause dilated cardiomyopathy, however, the role of missense titin variants is less clear. In humans the heterozygous titin A178D variant is associated with dilated cardiomyopathy with left ventricular non-compaction. Using CRISPR-Cas9 mediated homology-directed repai...
ORGANISM(S): Mus musculus 
2021-02-26 | GSE154504 | GEO
UnknownA titin missense variant drives atrial electrical remodeling and is associated with atrial fibrillation.
Not available
S-EPMC11643245 | biostudies-literature
UnknownA titin missense variant drives atrial electrical remodeling and is associated with atrial fibrillation.
Not available
S-EPMC12826672 | biostudies-literature
TranscriptomicsAn integrated transcriptome and expressed variant analysis of sepsis survival and death
Background: Sepsis, a leading cause of morbidity and mortality, is not a homogeneous disease but rather a syndrome encompassing many heterogeneous pathophysiologies. Patient factors including genetics predispose to poor outcomes, though current clinical characterizations fail to identify those at gr...
ORGANISM(S): Homo sapiens 
2015-01-01 | E-GEOD-63042 | biostudies-arrayexpress
GenomicsRNA sequencing of wildtype and homozygous titin A178D mouse left ventricle samples
RNA sequencing of wildtype and homozygous titin A178D mouse left ventricle samples
PRJNA646499 | ENA
UnknownRole of Titin Missense Variants in Dilated Cardiomyopathy.
Not available
S-EPMC4845231 | biostudies-literature
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