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Author

K. Pastuszak

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Open access Sep 2026

Rare missense variants identified by whole-genome sequencing in men with oligoasthenoteratozoospermia: An experimental study

Background: Oligoasthenoteratozoospermia (OAT) is a major cause of male infertility, characterized by low sperm count, poor motility, and abnormal morphology. While genetic factors contribute to a substantial proportion of cases, the specific variants underlying OAT remain largely unknown, especially in populations wit...

Sara Sadeghzadeh, A. Malcher, Razieh Ebrahimi Askari et al. · 0 citations
#protein folding Open access Oct 2026

Deepening the Understanding of Platelet-Derived RNA as Biomarker for Glioblastoma Through GSEA, TDEA, and Elastic Net Regularization Analysis.

BACKGROUND Glioblastoma (GBM) is the most aggressive form of primary brain cancer. Blood platelets have emerged as biomarkers where their RNA expression pattern indicates a tumor's presence. Our study aimed to characterize these patterns to identify biological processes associated with GBM and to evaluate their potenti...

Anna Giczewska, K. Pastuszak, L. van Hout et al. · 0 citations
Sep 2026

Clinical correlates of non-responders to ketamine in terms of self-assessed life engagement among treatment-resistant depression patients.

Le non-response among TRD patients was associated with depression later onset, prior ECT, absence of diabetes, and occupational inactivity, and Pharmacological treatment alone may be insufficient to improve LE, underscoring the need to integrate psychosocial and behavioral interventions.

M. Walaszek, W. Cubała, K. Pastuszak et al. · 0 citations
Open access Jul 2026

Whole-genome sequencing identifies a potentially causative homozygous splicing variant in RAD54 like in non-obstructive azoospermia

This study proposes RAD54L as a potential novel candidate gene linked to NOA and underscores the efficacy of WGS in identifying rare genetic etiologies of idiopathic male infertility.

Razieh Ebrahimi Askari, A. Malcher, Sara Sadeghzadeh et al. · 0 citations
Open access Jul 2026

Identification of novel variants in SSX1, CPNE1, and SPTBN5 in men with oligoasthenoteratozoospermia using whole-genome sequencing.

Rare candidate variants in SSX1, CPNE1, and SPTBN5 that may potentially be associated with the molecular basis of oligoasthenoteratozoospermia are identified and support the application of WGS in unresolved male infertility.

Sara Sadeghzadeh, A. Malcher, Razieh Ebrahimi Askari et al. · 0 citations

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