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TranscriptomicsTranscription profiling of rat heart from autosomal dominant mutation causing abnormal titin isoform expression
Titin is a striated muscle-specific giant elastic protein and largely responsible for the generation of the diastolic force in the cardiac myocyte. Cardiac titin undergoes developmental changes in isoform expression during the course of cardiac development. At present, at least five size classes of ...
ORGANISM(S): Mus musculus 
2008-06-18 | E-GEOD-11137 | biostudies-arrayexpress
TranscriptomicsTitin splicing
Titin is a striated muscle-specific giant elastic protein and largely responsible for the generation of the diastolic force in the cardiac myocyte. Cardiac titin undergoes developmental changes in isoform expression during the course of cardiac development. At present, at least five size classes of ...
ORGANISM(S): Rattus norvegicus Mus musculus 
2008-06-10 | GSE11137 | GEO
UnknownMutation that dramatically alters rat titin isoform expression and cardiomyocyte passive tension.
Not available
S-EPMC2501117 | biostudies-literature
ProteomicsFunctional abnormalities in iPSC-CMs generated from titin-mutated patients
Dilated cardiomyopathy (DCM), a myocardial disorder that can result in progressive heart failure and arrhythmias, is defined by ventricular chamber enlargement and dilatation, and systolic dysfunction. To decipher the basis for the cardiac pathology in titin-mutated patients, we investigated the hyp...
ORGANISM(S): Homo sapiens (Human) 
2019-04-12 | PXD010513 | Pride
Dilated cardiomyopathy (dcm)  induced pluripotent stem cell-derived (ipsc)  cardiomyocytes  titin mutation  calcium transients and contraction. 
GenomicsmicroRNA expression data from a heterozygous Titin-deficient mouse model and wildtype controls
Mutations in the sarcomeric protein titin are a major cause of human dilated cardiomyopathy. We have developed a knock-in mouse model that imitated a previously identified titin truncation mutation. The heterotygous Ttn-deficient mice develop features of DCM and therefore recapitulate the human phen...
ORGANISM(S): synthetic construct Mus musculus 
2017-01-31 | GSE90972 | GEO
TranscriptomicsThe zebrafish runzel mutant results in a novel muscular dystrophy phenotype due to a titin mutation
The zebrafish runzel (ruz) carries a mutation in the titin gene resulting in muscle degeneration and embryonic lethality. At the onset of the visible phenotype (3-3.5 days post fertilization), RNA expression of the tail and trunk (primarily skeletal muscle) was compared between ruz mutants and wildt...
ORGANISM(S): Danio rerio 
2006-07-30 | GSE4585 | GEO
GenomicsMus musculus
Titin splicing
PRJNA106927 | ENA
TranscriptomicsGene expression profiling in tibial muscular dystrophy and control skeletal muscle
Tibial muscular dystrophy (TMD) is a late onset, autosomal dominant distal myopathy that results from mutations in the two last domains of titin. The cascade of molecular events leading from the causative Titin mutations to the preterm death of muscle cells in TMD is largely unknown. To identify the...
ORGANISM(S): Homo sapiens 
2014-03-11 | E-GEOD-42806 | biostudies-arrayexpress
TranscriptomicsTranscription profiling of Zebrafish muscle tissue from wild type and runzel (ruz, carrying a mutant titin gene) embryos
The zebrafish runzel (ruz) carries a mutation in the titin gene resulting in muscle degeneration and embryonic lethality. At the onset of the visible phenotype (3-3.5 days post fertilization), RNA expression of the tail and trunk (primarily skeletal muscle) was compared between ruz mutants and wild...
ORGANISM(S): Danio rerio 
2007-10-05 | E-GEOD-4585 | biostudies-arrayexpress
UnknownCombination of Whole Genome Sequencing, Linkage, and Functional Studies Implicates a Missense Mutation in Titin as a Cause of Autosomal Dominant Cardiomyopathy With Features of Left Ventricular Noncompaction.
Not available
S-EPMC5068189 | biostudies-literature
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