Charles University

The clinical and molecular spectrum of AGO2-associated Lessel-Kreienkamp neurodevelopmental syndrome

Abstract Background Pathogenic variants in AGO2 ,encoding a central component of the RNA-induced silencing complex (RISC), cause the neurodevelopmental disorder Lessel-Kreienkamp syndrome (LESKRES). The variant spectrum and associated molecular mechanisms underlying phenotypic va...

Snow microinvertebrates from lowlands, high mountains and the Arctic—implications for conservation efforts

Abstract The protection of cryospheric ecosystems and their biota cannot be properly defined without a detailed species inventory. Snow microinvertebrates are crucial for estimating cryophilic biodiversity, yet they are poorly described at broader spatial scales. To fill this kno...

Biparental care is a resilient evolutionarily strategy persisting across multiple species of small carpenter bees despite low paternity

Abstract Biparental care is rare in insects and is commonly attributed to genetic monogamy, which yields high fitness benefits for caring males. The discovery of biparental care despite low male paternity in the bee Ceratina nigrolabiata challenges this view. We tested whether th...

Rhomboid protease RHBDL2 is a calcium-activated suppressor of EGFR signalling in keratinocytes

Abstract Signalling via the epidermal growth factor receptor (EGFR) is indispensable for morphogenesis and tissue homeostasis. It is activated by extracellular ligands, typically released from transmembrane precursors by proteolysis. Ligand shedding activity is provided by the co...

Different Conditions, Different Composition: Reactive Environment-Induced Surface Composition Dynamics in Pt-Based Bimetallic Alloys

Abstract Due to their unique properties, bimetallic platinum-based alloys often exhibit superior activity compared to their parent counterparts for many catalytic reactions. Nevertheless, as multimetallic systems, they often undergo compositional and structural changes under reac...

Minimal Surfaces via Complex Quaternions

Abstract. Minimal surfaces play a fundamental role in differential geometry, with applications spanning physics, materials science, and geometric design. In this paper, we explore a novel quaternionic representation of minimal surfaces, drawing an analogy with the well-establishe...

Typology of transit-oriented development to promote sustainable urban structure

<title>Abstract</title> Transit-Oriented Development (TOD) has emerged as a transformative strategy in sustainable urban planning, aiming to integrate land use and public transportation to foster compact, walkable, and mixed-use communities centered around high-capacity transit s...

Phylogeography of European hedgehogs revisited: Pleistocene northern refugia and ecological differentiation

Abstract Background This study re-evaluates the Pleistocene history of the European hedgehog ( Erinaceus europaeus ) and the Northern white-breasted hedgehog ( E. roumanicus ), by integrating genetically verified occurrence records, complementary allopatric GBIF records and ecolo...

Impact of adpkd-associated PKD1 gene variants on the human facial phenotype quantified by 3d geometric morphometry

Verification and visualization of the possible impact of PKD1 causative variants associated with autosomal dominant polycystic kidney disease (ADPKD) on facial phenotype using three-dimensional (3D) geometric morphometry. Three-dimensional facial scans of 39 adult patients with A...

Hepatitis A vaccination and its public-health impact in routine prevention and outbreak control: a systematic review and meta-analysis

Background Hepatitis A vaccination is used for routine prevention and outbreak control, but its effectiveness and population-level impact have not been comprehensively synthesised. We aimed to assess vaccine effectiveness, certainty of evidence, and population-level impact. Metho...

Global Prevalence of Keratoconus in the Adult Population: A Systematic Review

To synthesize contemporary estimates of adult keratoconus prevalence worldwide and determine how geography, demographics, and study methodology shape reported rates. We systematically reviewed original studies (2019–2024) quantifying keratoconus in adults. We excluded paediatric-...

Hybrid grading systems improve progression risk stratification in non‐invasive papillary urothelial carcinoma and support a histomorphological continuum of disease progression

OBJECTIVE: Histological grading is a key predictor of progression in non-muscle-invasive bladder cancer (NMIBC). The WHO 1973 three-tier system is limited by heterogeneity within the G2 category, whereas the WHO 2004/2016 binary classification reduces prognostic resolution by gro...

Non-decomposable Lagrangian cobordisms between Legendrian knots

Abstract For a given g greater than 0 <mml:math xmlns:xlink="http://www.w3.org/1999/xlink" xmlns:mnf="http://cambridge.org/core/manifest" xmlns:cup="http://contentservices.cambridge.org" xmlns:mml="http://www.w3.org/1998/Math/MathML" xmlns:m="http://cambridge.org/core/metadata" x...

Plasma p-tau217 as a two-cutoff approach to improve tau-PET screening and trial recruitment in Alzheimer’s disease

Abstract Blood-based biomarkers could broaden access to Alzheimer’s disease diagnostics, but their ability to approximate tau PET, and to address gray-zone results, remains uncertain. We evaluated plasma p-tau217 against tau PET using a harmonized ADNI baseline cohort and an inde...

Even better sums of squares over quintic and cyclotomic fields

Abstract We classify all totally real number fields of degree at most 5 that admit a universal quadratic form with rational integer coefficients; in fact, there are none over the previously unsolved cases of quartic and quintic fields. This fully settles the lifting problem for u...

Maternal immune activation disrupts the kynurenine pathway of tryptophan metabolism in the placenta–fetal brain axis in rats

Abstract Background Maternal immune activation is a major risk factor for neurodevelopmental disorders; however, the molecular mechanisms linking gestational inflammation to fetal brain vulnerability remain incompletely defined. The tryptophan–kynurenine pathway is highly respons...

Giant Well-Differentiated Liposarcoma of the Spermatic Cord Associated With Inguinal Hernia: Clinical Insights From a Case Report

Patient: Male

Circular orbits in spherically symmetric spacetimes and BSW effect with nonzero force

Abstract We consider circular particle motion under the action of an unspecified force in a static spherically symmetric spacetime. We derive the machinery that allows one to find the force acting on a circular particle and deduce whether its position is stable or not. This also...

Discoveryof High-Affinity Peptide Ligands Targetingthe SPIN1 Tudor 3 Domain Via a Minimalist Pruning Strategy

Abstract Spindlin1 (SPIN1) is an epigenetic reader involved in oncology, whose third Tudor domain remains largely underexplored. Here, we applied a minimalist pruning strategy to the 26-mer peptide DOCpep3 to identify the core pharmacophore for SPIN1 Tudor 3 domain binding. This...

Religious Education, Psychosocial Learning, and the Formation of Prosocial Behaviour: A Conceptual Study in Christian Educational Contexts

This article examines the role of psychosocial learning in the formation of prosocial behaviour within Christian religious education and broader religiously informed educational settings. While prosocial behaviour is frequently analysed from psychological, pedagogical, or sociolo...