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Cardiac troponin I, the inhibitory subunit of the heterotrimeric cardiac troponin (cTn) complex is phosphorylated by protein kinase A at two serine residues located in its heart-specific N-terminal extension. This flexible arm interacts at different sites within cTn dependent on its phosphorylation degree. Bisphosphorylation is known to induce(More)
—Familial hypertrophic cardiomyopathy (HCM) is caused by mutations in at least 8 contractile protein genes, most commonly ␤ myosin heavy chain, myosin binding protein C, and cardiac troponin T. Affected individuals are heterozygous for a particular mutation, and most evidence suggests that the mutant protein acts in a dominant-negative fashion. To(More)
Aim of this study was to investigate at what age German children master prosodic and morphological constraints in the acquisition of the word formation paradigm -heit/-keit, which is comparable to English -ness, and whether children with Specific Language Impairment (SLI) have difficulties identifying the prosodic cues from the input. Derived words with(More)
Bewegungsstörungen sind häufig komplex-genetische Erkrankungen, bei denen genetische Risikofaktoren eine große Rolle spielen. Während z. B. beim Parkinson-Syndrom (PS) monogene Ursachen für nur 2–5 % der Erkrankungen verantwortlich sind und dies meist junge Patienten mit einem frühen Erkrankungsbeginn (<40. Lebensjahr) betrifft, scheinen häufige genetische(More)
A number of genetic causes of movement disorders including Parkinson disease, dystonia, restless legs syndrome or essential tremor have been elucidated in recent years. This process was accelerated by novel technologies including genome-wide association studies (GWAS) and next generation sequencing (NGS). Although monogenic forms are overall rare, they(More)
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