Author

R. Płoski

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Open access Oct 2026

Plasma Lipidomic Phenotype Associated with Pathogenic LDLR Variants in Familial Hypercholesterolemia

Familial hypercholesterolemia (FH) is caused by an impaired ability to clear circulating low-density lipoprotein (LDL-C) particles due to a defective low-density lipoprotein receptor (LDLR). FH significantly increases cardiovascular risk (CVR). Although conventional lipid parameters are essential for diagnosing FH, the...

Joanna Waś, Aleksander Prejbisz, M. Niedolistek et al. · International Journal of Mol... · 0 citations

Open access Aug 2026

EP1137 - ECE_2413 - The importance of cell adhesion molecules CADM2/3 and miR-127 and miR432 for clinically non-functioning pituitary tumours

Novel genes and miRs are revealed in NF-PitNETs suggesting their potential regulatory role in cell adhesion, migration, and apoptosis therefore potentially contributing to their pathogenesis.

B. Rak-Makowska, S. Barry, M. Maksymowicz et al. · European Journal of Endocrin... · 0 citations

Open access Jul 2026

TANGO2-related metabolic encephalopathy–arrhythmia syndrome unmasked in 22q11.2 deletion syndrome: hemizygous pathogenic variant, complex phenotype modified by two genetic conditions, and implications for proactive crisis prevention: a case report

A case of a child with confirmed 22q11.2 deletion syndrome in whom a coexisting variant in the TANGO2 gene was diagnosed at the age of 5 after first metabolic crisis with rhabdomyolysis, demonstrating that exome sequencing should be pursued early when atypical features emerge in patients with established genetic diagno...

Ewa Grzywna-Rozenek, Ł. Sędek, M. Rydzanicz et al. · BMC Pediatrics · 0 citations