University of Tübingen

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...

High-Risk Clones of Carbapenem-Resistant Pseudomonas aeruginosa in India: Genome and Traits

Pseudomonas aeruginosa is a notorious opportunistic pathogen constituting a major cause of health care-associated infections worldwide. Intrinsic resistance to multiple antibiotics, with acquired resistance mechanisms and hypervirulence make it a critical target for genomic inves...

On the separability of target and distractor processing in conflict tasks

By orthogonally pairing relevant and irrelevant information, conflict tasks entail an inverse problem: Are congruency effects shaped by distractor strength, target strength, or both? This fundamental question has received mixed empirical answers, leaving it unclear whether congru...

Persistent influence of the North Atlantic Oscillation on Late Holocene hydroclimate in southwestern Greenland

Abstract Understanding how global climate forcing shapes regional hydroclimate on decadal to millennial timescales is critical for predicting the response of continental ice sheets to future warming. Because instrumental observations capture only a short interval, longer-term per...

The impact of authorship and AI attitude on the perception of message credibility and author competence

Generative artificial intelligence (AI) is increasingly changing the way information is conveyed which raises questions about the perception of author competence and message credibility. This study examines the extent to which the type of author (human vs. AI) and the gender of t...

[Au 4 (dppb) 3 ] 2+ – A Planar Gold Cluster with Bright Excitation Wavelength Dependent Emission

ABSTRACT The reaction of dppb(AuCl) 2 and InCl gives the [Au 4 (dppb) 3 ] 2+ cluster where the four gold atoms are arranged in a deltoid. This contrasts all known [Au 4 ] 2+ clusters which exclusively form tetrahedral structures. Single crystals of the title compound luminesce wi...

Density profiles and direct correlation functions from density functional theory in binary hard-sphere crystals: Substitutional solid and interstitial solid solution

We determine the fully resolved equilibrium density profiles for two binary hard-sphere crystal structures using classical density functional theory through the White Bear II functional from fundamental measure theory. While for the substitutional crystal, in which some hard sphe...

Accurate quantification of spliced and unspliced transcripts for single-cell RNA sequencing with tidesurf

Abstract Motivation Single-cell RNA sequencing (scRNA-seq) allows for the detailed analysis of dynamic cellular processes. In particular, this has been enabled by the estimation of RNA velocity, the derivative of gene expression, from separate count matrices for different splice...

Longitudinal progression, metrics, age-dependence, and modifiers of ataxia severity in SCA27B: a multicentre study of 219 patients

Background Spinocerebellar Ataxia 27B (SCA27B) is a novel, frequent and likely treatable late-onset autosomal-dominant ataxia caused by GAA repeat-expansions in FGF14 . For understanding disease evolution and imminent trial planning, metrics of the most widely used clinical outco...

The Hsd17b13P260S patient variant knock-in male mouse model provides translational insights into HSD17B13 biology

Background Metabolic dysfunction-associated steatotic liver disease (MASLD) is a prevalent liver disease that can progress to metabolic dysfunction-associated steatohepatitis (MASH), a condition marked by inflammation and fibrosis that increases the risk of cirrhosis, liver failu...

The Theory of Topoi in Erasmus and Tasso

This contribution offers a theoretical and methodological insight into the main findings of the author's doctoral thesis, Topoi bei Erasmus und Tasso. The document is structured into two complementary parts: an introductory interview focusing on the application of topics and argu...

Rushing to the altar? Same-sex marriages when rights feel at risk

Abstract The literature on same-sex marriage has primarily focused on the effects of legal recognition, overlooking other factors that influence marriage decisions among same-sex couples. This study provides novel evidence on the role of political context by analyzing how the ele...

Standardized lake fish community assessment using modified multi-mesh gillnets to minimize fish mortality

Systems for assessing the ecological status of lakes with respect to fish population are normally based on catches using conventional European Committee for Standardization (CEN) gill nets. A modified gillnet (MOD) design with less small-mesh and more large-mesh panel area , deve...

Robust topological quantum state transfer with long-range interactions in Rydberg arrays

We develop a theoretical framework for fast, robust and high-fidelity topological quantum state transfer in one-dimensional systems with long-range couplings, motivated by chains of Rydberg atoms with dipole-dipole interactions. Such long-range interactions naturally give rise to...

Low practical knowledge but high willingness to use malaria rapid diagnostic tests among healthcare workers in the Republic of Congo

BACKGROUND: Malaria rapid diagnostic tests (mRDTs) are essential for early detection and effective management of malaria, but their success depends on healthcare workers' (HCWs) knowledge, attitudes, and practices regarding their use. This study described these factors and aimed...

Low-dose atropine-related esotropia in a myopic child: a case report

AIMS/PURPOSE: Acute-onset strabismus in highly myopic children raises a broad differential diagnosis. In this article, we report a pediatric case with high myopia and prolonged near focus who presented concomitant esotropia during treatment with atropine 0.05% eye drops. METHODS:...

Idylla™ POLE-POLD1 mutation assay for molecular characterization and risk stratification of endometrial cancers: a retrospective multicenter validation study

Endometrial carcinoma (EC) is a common gynecological cancer with rising incidence driven by obesity and aging populations. Accurate and timely molecular classification is critical for guiding personalized oncology treatment, especially in early-stage high-grade endometrioid carci...

Histoplasmosis in India: a systematic review of reported cases

BACKGROUND: Histoplasmosis is a systemic fungal infection caused by Histoplasma capsulatum and is increasingly recognised in India, but its epidemiology, clinical spectrum, diagnosis, treatment, and outcomes remain poorly characterised. We conducted a systematic review of reporte...

Does TikTok promote or cannibalize music streaming? Estimands and identification with heavy-tailed outcomes

Abstract We study how TikTok affects demand for music on paid streaming platforms in the context of Universal Music Group’s (UMG) global withdrawal of its catalog from TikTok. Recent studies using this quasi-natural experiment have reached different conclusions about whether TikT...

Planktonic foraminifera iodine ∕ calcium ratio: is it a proxy for dissolved oxygen in the ocean?

Abstract. Direct observations indicate a declining trend in ocean oxygen concentrations, which is not quantitatively captured by models. The complexity of oxygenation variability, linked to both physical and biochemical parameters, must be investigated across different modern cli...