Mutations in DNAJC19 cause altered mitochondrial structure and increased mitochondrial respiration in human iPSC-derived cardiomyocytes.

Background: Dilated cardiomyopathy with ataxia (DCMA) is an autosomal recessive disorder arising from truncating mutations in DNAJC19, which encodes an inner mitochondrial membrane protein. Clinical features include an early onset, often life-threatening, cardiomyopathy associated with other metabolic features. Here, we aim to understand the metabolic and pathophysiological mechanisms of mutant DNAJC19 for the development of cardiomyopathy.

Generation of a CRISPR/Cas9-edited Plakoglobin (JUP) knock-out (JMUi001-A-4) iPSC line to model the cardiac phenotype of arrhythmogenic cardiomyopathy.

Arrhythmogenic cardiomyopathy (ACM) represents the cardiac phenotype of Naxos disease, an autosomal recessive disease with an additional cutaneous phenotype. ACM is mainly caused by mutated desmosomal proteins, which are part of cardiac adherens junctions and provide mechanical and electrical stability. Here, we generated a knock-out (KO) of the junctional protein Plakoglobin (JUP-KO; JMUi001-A-4) using the CRISPR/Cas9 system in healthy control induced pluripotent stem cells (iPSCs, (JMUi001-A).

Influence of corticosteroid treatment on CXCR4 expression in DLBCL.

Background: CXCR4-targeted radioligand therapy (RLT) with [Lu]Lu/[Y]Y-PentixaTher has recently evolved as a promising therapeutic option for patients with advanced hematological cancers. Given their advanced disease stage, most patients scheduled for PentixaTher RLT require concomitant or bridging chemotherapy to prevent intermittent tumor progression. These (mostly combination) therapies may cause significant downregulation of tumoral CXCR4 expression, challenging the applicability of PentixaTher RLT.

Turn-timing in conversations between autistic adults: Typical short-gap transitions are preferred, but not achieved instantly.

The organisation of who speaks when in conversation is perhaps the most fundamental aspect of human communication. Research on a wide variety of groups of speakers has revealed a seemingly universal preference for between-speaker transitions consisting of very short silent gaps. Previous research on conversational turn-taking in Autism Spectrum Disorder (ASD) consists of only a handful of studies, most of which are limited in scope and based on the non-spontaneous speech of children and adolescents.

Emotion norms for 6000 Polish word meanings with a direct mapping to the Polish wordnet.

Emotion lexicons are useful in research across various disciplines, but the availability of such resources remains limited for most languages. While existing emotion lexicons typically comprise words, it is a particular meaning of a word (rather than the word itself) that conveys emotion. To mitigate this issue, we present the Emotion Meanings dataset, a novel dataset of 6000 Polish word meanings.