Global ETD Search
Search theses and dissertations gathered from participating repositories worldwide. Every result links back to the library that holds it. No account is needed.
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Showing 1 to 2 of 2 for “"titinopathy"”.
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Identifying biological pathomechanisms of TTN-affected myopathies using RNA-Sequencing data
… underlying disease-causing variants specific to titinopathy patients are still elusive. Investigating gene signatures causing the biological pathomechanisms is crucial for understanding genotype-phenotype corelations. RNA-sequencing emerges as a valuable technique for analysing transcriptomic …
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Protein interaction studies on the titin A150 domain using proximity-dependent biotinylation
Titin is an enormous protein that spans over 1 µm in the sarcomere, making it the largest protein in the human body. A single missense variant within the titin A150 domain, also called FN3 119, is sufficient to cause a dominant myopathy known as Hereditary Myopathy with Early Respiratory Failure …