Publications by authors named "Huber I"

Article Synopsis
  • - WDR83OS encodes a protein called Asterix, which works with another protein, CCDC47, to help fold large proteins correctly, specifically those with transmembrane domains.
  • - Recent findings linked mutations in CCDC47 and WDR83OS to trichohepatoneurodevelopmental syndrome, showing consistent symptoms like neurodevelopmental disorders, facial dysmorphism, and liver dysfunction across multiple families.
  • - A zebrafish model lacking Wdr83os function demonstrated its crucial role in the nervous system and lipid absorption, further establishing a connection between WDR83OS mutations and neurological diseases characterized by elevated bile acids.
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Background: For patients experiencing ischemic stroke despite receiving therapy with direct oral anticoagulants (DOAC) and without endovascular treatment options, therapeutic prospects are currently dismal. Current guidelines recommend intravenous thrombolysis (IVT) only for patients who have received DOAC in very restricted settings, as an increased risk of bleeding is suspected. However, recent retrospective observational studies suggest that IVT is safe despite DOAC pretreatment.

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Background: The coronavirus 2019 (COVID-19) pandemic impacted cancer health care in several countries, with delays in the detection and treatment of breast and cervical cancer. The objective of this study is to analyze and compare the screening, diagnosis and treatment of breast and cervical cancer in the pre-COVID period and during the COVID-19 period.

Methods: Cross-sectional study with secondary data collected from the Mortality Information System (SIM), Hospital Information System (SIH), Ambulatory Information System (SIA) and the Oncology Panel (PO) of breast cancer notifications with ICD C50.

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As climate change shifts crop exposure to dry and wet extremes, a better understanding of factors governing crop response is needed. Recent studies identified shallow groundwater-groundwater within or near the crop rooting zone-as influential, yet existing evidence is largely based on theoretical crop model simulations, indirect or static groundwater data, or small-scale field studies. Here, we use observational satellite yield data and dynamic water table simulations from 1999 to 2018 to provide field-scale evidence for shallow groundwater effects on maize yields across the United States Corn Belt.

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Article Synopsis
  • Electroporation is a nonthermal method for treating cardiac arrhythmias, and this study aimed to create a functional in vitro model using human-induced pluripotent stem cells (hiPSCs) to explore its underlying mechanisms.
  • Different pulsed-field ablation (PFA) protocols were tested on hiPSC-derived cardiac cells, revealing that PFA can create conduction block areas and demonstrated both reversible and irreversible electroporation effects.
  • Findings indicated that high-frequency PFA was less effective than standard methods and that factors like pulse number and extracellular calcium levels influenced lesion size, with potential applications in controlling arrhythmic activity.
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Background: Campylobacter spp. is the most frequent cause of bacterial food-borne gastroenteritis and a high priority antibiotic resistant bacterium according to the World Health Organization (WHO). European monitoring of thermotolerant Campylobacter spp.

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and are the predominant thermophilic species responsible for foodborne gastroenteritis worldwide. Elevated resistance to certain antibiotics was observed due to antimicrobial therapy in farm animals and humans, while reduced antimicrobial usage partially reduced antibiotic resistance. Monitoring the antimicrobial resistance demonstrated a substantial fraction of multi-resistant isolates, indicating the necessity of reliable tools for their detection.

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Background: Among the monogenic inherited causes of atrial fibrillation is the short QT syndrome (SQTS), a rare channelopathy causing atrial and ventricular arrhythmias. One of the limitations in studying the mechanisms and optimizing treatment of SQTS-related atrial arrhythmias has been the lack of relevant human atrial tissues models.

Objective: To generate a unique model to study SQTS-related atrial arrhythmias by combining the use of patient-specific human induced pluripotent stem cells (hiPSCs), atrial-specific differentiation schemes, two-dimensional tissue modeling, optical mapping, and drug testing.

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Reported cases of listeriosis from food of non-animal origin (FNAO) are increasing. In order to assess the risk of exposure to from FNAO, the genetic characterization of the pathogen in FNAO products and in primary production and processing plants needs to be investigated. For this, 123 samples of fresh and frozen soft fruit and 407 samples of 39 plants in Bavaria, Germany that produce and process FNAO were investigated for contamination.

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Background: In recent years, whole genome sequencing (WGS) in combination with bioinformatic analyses has become state of the art in evaluating the pathogenicity/resistance potential and relatedness of bacteria. WGS analysis thus represents a central tool in the investigation of the resistance and virulence potential of pathogens, as well as their dissemination via outbreak clusters and transmission chains within the framework of molecular epidemiology. In order to gain an overview of the available genotypic and phenotypic methods used for pathogen typing of Salmonella and Shiga toxin-producing and enterohemorrhagic Escherichia coli (STEC/EHEC) in Germany at state and federal level, along with the availability of WGS-based typing and corresponding analytical methods, a survey of laboratories was conducted.

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Crop yield prediction is of great importance for decision making, yet it remains an ongoing scientific challenge. Interactions among different genetic, environmental, and management factors and uncertainty in input values are making crop yield prediction complex. Building upon a previous work in which we coupled crop modeling with machine learning (ML) models to predict maize yields for three US Corn Belt states, here, we expand the concept to the entire US Corn Belt (12 states).

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Interpretation of whole-genome sequencing (WGS) data for foodborne outbreak investigations is complex, as the genetic diversity within processing plants and transmission events need to be considered. In this study, we analyzed 92 food-associated isolates by WGS-based methods. We aimed to examine the genetic diversity within meat and fish production chains and to assess the applicability of suggested thresholds for clustering of potentially related isolates.

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Heterozygous missense variants of the cardiac ryanodine receptor gene (RYR2) cause catecholaminergic polymorphic ventricular tachycardia (CPVT). These missense variants of RYR2 result in a gain of function of the ryanodine receptors, characterized by increased sensitivity to activation by calcium that results in an increased propensity to develop calcium waves and delayed afterdepolarizations. We have recently detected a nonsense variant in RYR2 in a young patient who suffered an unexplained cardiac arrest.

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Novel series of cyclic C-curcuminoids 17a-j and 19-22 were prepared as cytotoxic agents and evaluated against human neuroblastoma (SH-SY5Y) or human grade IV astrocytoma (CCF-STTG1) cell lines in low (∼0.1 nM - 10 nM) concentrations. Among the tested 21 derivatives, 16 displayed potent antiproliferative activity with IC values in the low nanomolar to picomolar range (IC = 7.

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Long-QT syndrome type 1 (LQT1) is caused by mutations in . Patients heterozygous for such a mutation co-assemble both mutant and wild-type -encoded subunits into tetrameric Kv7.1 potassium channels.

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Aims: Cardiac myosin-binding protein C (cMyC) demonstrated high diagnostic accuracy for the early detection of non-ST-elevation myocardial infarction (NSTEMI). Its dynamic release kinetics may enable a 0/1h-decision algorithm that is even more effective than the ESC hs-cTnT/I 0/1 h rule-in/rule-out algorithm.

Methods And Results: In a prospective international diagnostic study enrolling patients presenting with suspected NSTEMI to the emergency department, cMyC was measured at presentation and after 1 h in a blinded fashion.

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Article Synopsis
  • Optogenetics utilizes light-sensitive proteins to manipulate cardiac excitability, aiming to create high-resolution tools for controlling electrical activity in 2D and 3D human heart tissue models derived from induced pluripotent stem cells.
  • Researchers combined opsin-carrying HEK293 cells with hiPSC-cardiomyocytes to create cardiac cell-sheets and engineered heart tissues, employing complex illumination patterns to evaluate and enhance electromechanical properties.
  • The study demonstrated that optogenetics could effectively pace and synchronize heart tissue contraction while also providing a way to study and terminate arrhythmias, showing promising applications for cardiac resynchronization therapy.
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Climate change (CC) in central China will change seasonal patterns of agricultural production through increasingly frequent extreme climatic events (ECEs). Breeding climate-resilient wheat (Triticum aestivum L.) genotypes may mitigate adverse effects of ECEs on crop productivity.

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Campylobacter jejuni is the leading bacterial food-borne pathogen in Europe. Despite the accepted limits of cultural detection of the fastidious bacterium, the "gold standard" in food microbiology is still the determination of colony-forming units (CFU). As an alternative, a live/dead differentiating qPCR has been established, using propidium monoazide (PMA) as DNA-intercalating crosslink agent for inactivating DNA from dead, membrane-compromised cells.

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Abnormal action potential (AP) properties, as occurs in long or short QT syndromes (LQTS and SQTS, respectively), can cause life-threatening arrhythmias. Optogenetics strategies, utilizing light-sensitive proteins, have emerged as experimental platforms for cardiac pacing, resynchronization, and defibrillation. We tested the hypothesis that similar optogenetic tools can modulate the cardiomyocyte's AP properties, as a potentially novel antiarrhythmic strategy.

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The performance of crop models in simulating various aspects of the cropping system is sensitive to parameter calibration. Parameter estimation is challenging, especially for time-dependent parameters such as cultivar parameters with 2-3 years of lifespan. Manual calibration of the parameters is time-consuming, requires expertise, and is prone to error.

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Background: The early non-invasive discrimination of Type 2 versus Type 1 Myocardial Infarction (T2MI, T1MI) is a major unmet clinical need. We aimed to externally validate a recently derived clinical score (Neumann) combing female sex, no radiating chest pain, and high-sensitivity cardiac troponin I (hs-cTnI) concentration ≤40.8 ng/L.

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Despite extensive monitoring programs and preventative measures, spp. continue to cause tens of thousands human infections per year, as well as many regional and international food-borne outbreaks, that are of great importance for public health and cause significant socio-economic costs. In Germany, salmonellosis is the second most common cause of bacterial diarrhea in humans and is associated with high hospitalization rates.

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Tissue engineering provides unique opportunities for disease modeling, drug testing, and regenerative medicine applications. The use of cell-seeded scaffolds to promote tissue development is the hallmark of the tissue engineering. Among the different types of scaffolds (derived from either natural or synthetic polymers) used in the field, the use of decellularized tissues/organs is specifically attractive.

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