12 research outputs found
Evaluation of experimental spinal cord injury by measuring spontaneous spinal cord potentials
Phycoremediation of Sewage-Contaminated Lake Water Using Microalgae–Bacteria Co-Culture
No difference in terms of radiostereometric analysis between fixed- and mobile-bearing total knee arthroplasty: a randomized, single-blind, controlled trial
Progressive muscle proteome changes in a clinically relevant pig model of Duchenne muscular dystrophy
When signalling goes wrong: pathogenic variants in structural and signalling proteins causing cardiomyopathies
Cardiomyopathies are a diverse group of cardiac disorders with distinct phenotypes, depending on the proteins and pathways affected. A substantial proportion of cardiomyopathies are inherited and those will be the focus of this review article. With the wide application of high-throughput sequencing in the practice of clinical genetics, the roles of novel genes in cardiomyopathies are recognised. Here, we focus on a subgroup of cardiomyopathy genes [TTN, FHL1, CSRP3, FLNC and PLN, coding for Titin, Four and a Half LIM domain 1, Muscle LIM Protein, Filamin C and Phospholamban, respectively], which, despite their diverse biological functions, all have important signalling functions in the heart, suggesting that disturbances in signalling networks can contribute to cardiomyopathies.</p