11. The role of DNA mismatch repair mutS/mutL homolog genes in spermatogenesis and male infertility : a systematic review and cohort studyRebeka Podgrajšek, Alenka Hodžić, Aleš Maver, Martin Štimpfel, Aleksander Andjelic, Olivera Miljanović, Momčilo Ristanović, Borut Peterlin, 2025, izvirni znanstveni članek Povzetek: Background: Recent research in male infertility genetics has identified numerous candidate genes, some of which were also involved in DNA repair. Mismatch repair (MMR) genes, such as MSH4 and MSH5, have been linked to male infertility due to their role in meiosis, suggesting that other MMR genes may also contribute to impaired spermatogenesis. To investigate the role of MMR genes in male infertility, we first conducted a systematic review focusing on their involvement in impaired spermatogenesis, which was followed by a multicenter cohort study assessing the occurrence of rare deleterious variants in MMR genes among men with severely impaired fertility. The present study aimed to assess the contribution of MMR genes to male infertility and to evaluate their potential clinical utility in the diagnostic workup of men with severely impaired fertility. Methods: A systematic review was conducted through a PubMed database search with a focus on the role of MMR genes in spermatogenesis. We additionally prepared a cohort study, including whole-exome sequencing data from 244 infertile men presenting azoospermia or severe oligozoospermia (< 5 million spermatozoa/ml). Rare, deleterious variants in MMR genes were classified using the ACGS Guidelines for Variant Classification 2020. Results: Following a systematic review of the literature, we gathered robust evidence supporting the strong involvement of MSH4 and MSH5 variants in male infertility, moderate evidence for MLH3, and limited evidence for other MMR genes. From our cohort, we identified likely pathogenic or pathogenic variants in two individuals: one with two MSH4 variants and another with a PMS2 variant. Conclusions: The present study identifies MSH4 and MSH5 as strong candidate genes for male infertility, supporting the integration of their testing into the clinical diagnosis of infertile men, particularly those exhibiting non-obstructive azoospermia. Although current evidence suggests that genetic variants in most MMR genes do not cause infertility, genetic defects in MMR genes can still impair spermatogenesis due to their critical role in sperm DNA repair and maintenance of genome integrity.
Ključne besede: male infertility, spermatogenesis, mismatch repair, gens, MSH, MLH
Objavljeno v DiRROS: 22.12.2025; Ogledov: 4; Prenosov: 4
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13. Comparative metabolic fingerprinting of olive (Olea europaea L.) cultivars under boron foliar fertilisationPaula Žurga, Marija Polić Pasković, Nikola Major, Paula Pongrac, Igor Pasković, 2025, izvirni znanstveni članek Povzetek: Olive (Olea europaea L.) cultivars often exhibit genotype-specific responses to micronutrient management. In this study, we investigated the metabolic leaf fingerprinting of three cultivars ‘Rošinjola’, ‘Leccino’, and ‘Istarska bjelica’ at two sampling periods (SP-I = 64 days after treatment (DAT) and SP-II = 118 DAT), following boron foliar fertilisation (+B = 41.62 mM B; −B = 0 mM B) applied 50 days after anthesis. To our knowledge, this is the first study to provide such a detailed evaluation of boron-induced shifts in phenolic metabolism in olive leaves. At harvest (SP-II), all three cultivars showed higher concentrations of total identified phenolic compounds in +B plants compared with the −B controls. Notably, the concentration of verbascoside at harvest was higher in +B plants of ‘Istarska bjelica’ and ‘Leccino’, but not in ‘Rošinjola’. Oleuropein content increased in +B plants at harvest to a level higher than 4870 mg/100 g DW, irrespective of cultivar. Conversely, apigenin-7-glucoside declined from SP-I to SP-II in ‘Leccino’ regardless of treatment, whereas in ‘Istarska bjelica’, this decrease occurred only in control plants, with boron preventing the seasonal decline. These findings confirm the prolonged effect of boron foliar fertilisation on phenolic metabolism in olive leaves and highlight cultivar-specific differences in metabolic responses. Further research is needed to clarify how these metabolic shifts relate to primary plant metabolism and how they influence olive oil quality traits among cultivars grown under Croatian conditions.
Ključne besede: plant metabolism, olive leaves, oleuropein, Istrian cultivars
Objavljeno v DiRROS: 22.12.2025; Ogledov: 19; Prenosov: 12
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14. Frequency-domain analysis of voltammetric signals : a framework to augment electrochemical sensing explored through benzenediol detectionAbhilash Krishnamurthy, Kristina Žagar, 2026, izvirni znanstveni članek Povzetek: Electrochemical signals are traditionally interpreted in the time domain, where overlapping faradaic and non-faradaic currents, noise, and drift obscure frequency-dependent behaviour. This study introduces a frequency-domain framework that complements time-domain analysis by decomposing voltammetric signals into their harmonic components through Fourier methods. AC voltammetry provides experimental evidence of how increasing excitation frequency progressively suppresses faradaic clarity, while a modified Randles equivalent circuit model explains this response through the interplay of charge-transfer, diffusion, and double-layer charging processes. Fourier series analysis of canonical voltammetric techniques, including linear sweep, cyclic, differential pulse, and square wave voltammetry, shows that waveform geometry uniquely defines harmonic structure. Fast Fourier transform analysis of practical data reveals artefacts introduced by finite sampling, binning, and spectral leakage. These effects highlight the need for conceptual awareness when interpreting experimental spectra. Quantitative spectral descriptors such as the centroid, bandwidth, flatness, and low-frequency power fraction link waveform design directly to faradaic visibility and measurement clarity. Frequency-domain analysis therefore establishes that electrochemical measurement is inherently frequency-structured. By combining experimental data, equivalent circuit modelling and spectral metrics within a single framework, this approach provides a general route to optimise waveform parameters, reduce capacitive interference, and improve interpretability across electrochemical techniques. Viewed more broadly, this perspective reframes the process of the measurement itself, showing that time-domain signals are projections of an underlying spectral reality.
Ključne besede: frequency domain, spectral decomposition, electrochemical sensors, benzenediols
Objavljeno v DiRROS: 22.12.2025; Ogledov: 9; Prenosov: 8
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