Publications by authors named "Beucher A"

Based on current evidence and established critical thresholds for soil degradation indicators, it is concerning that over 60-70% of European soils are unhealthy due to unsustainable management and the impact of climate change. Despite European and national efforts to improve soil health, significant gaps remain. The proposal for a Soil Monitoring and Resilience Law, to be implemented by the European Union, seeks to establish a framework for soil monitoring and promote sustainable management practices to achieve healthy soils by 2050.

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Future global climate changes are expected to increase soil organic carbon (SOC) decomposition. However, the combined effect of C inputs, land use changes, and climate on SOC turnover is still unclear. Exploring this SOC-climate-land use interaction allows us to understand the SOC stabilization mechanisms and examine whether the soil can act as a source or a sink for CO.

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Ulcerative colitis (UC), Crohn's disease (CD), and celiac disease are prevalent intestinal inflammatory disorders with nonsatisfactory therapeutic interventions. Analyzing patient data-driven cohorts can highlight disease pathways and new targets for interventions. Long noncoding RNAs (lncRNAs) are attractive candidates, since they are readily targetable by RNA therapeutics, show relative cell-specific expression, and play key cellular functions.

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Coupling the release of pituitary hormones to the developmental stage of the oocyte is essential for female fertility. It requires estrogen to restrain kisspeptin (KISS1)-neuron pulsatility in the arcuate hypothalamic nucleus, while also exerting a surge-like effect on KISS1-neuron activity in the AVPV hypothalamic nucleus. However, a mechanistic basis for this region-specific effect has remained elusive.

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Article Synopsis
  • * Researchers analyzed 91 patients and found multiple gene mutations, with FLT3 and NPM1 being the most common; specific mutations were linked to remission success, treatment resistance, and post-relapse mortality.
  • * Short-term outcomes were best predicted by general health and performance status, while long-term outcomes were better assessed using genomic classifications, highlighting the need for tailored prognostic systems for older patients, as existing models primarily focus on younger individuals.
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The biological purpose of long non-coding RNAs (lncRNAs) is poorly understood. Haploinsufficient mutations in HNF1A homeobox A (HNF1A), encoding a homeodomain transcription factor, cause diabetes mellitus. Here, we examine HASTER, the promoter of an lncRNA antisense to HNF1A.

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Background: Non-coding genetic variants that influence gene transcription in pancreatic islets play a major role in the susceptibility to type 2 diabetes (T2D), and likely also contribute to type 1 diabetes (T1D) risk. For many loci, however, the mechanisms through which non-coding variants influence diabetes susceptibility are unknown.

Results: We examine splicing QTLs (sQTLs) in pancreatic islets from 399 human donors and observe that common genetic variation has a widespread influence on the splicing of genes with established roles in islet biology and diabetes.

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VEXAS (vacuoles, E1 enzyme, X-linked, auto-inflammatory, somatic) syndrome is an inflammatory disorder with hematological and systemic features. A recent study demonstrated that the dermal infiltrate in neutrophilic dermatosis from VEXAS patients is derived from the pathological UBA1-mutated myeloid clone. Neutrophilic dermatosis is, however, only one of the various skin involvements observed in VEXAS syndrome.

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Background: Post-exertional malaise (PEM), the cardinal feature of myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS), occurs generally after exposure to a stressor. It is characterized by the worsening of ME/CFS symptoms and results in aggravating the course of the disease and the quality of life of patients. Due to its unpredictable onset, severity, and recovery time, identifying patients with higher risk for severe PEM would allow preventing or reducing its occurrence.

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Defects in transcriptional regulators of pancreatic exocrine differentiation have been implicated in pancreatic tumorigenesis, but the molecular mechanisms are poorly understood. The locus encoding the transcription factor HNF1A harbors susceptibility variants for pancreatic ductal adenocarcinoma (PDAC), while KDM6A, encoding Lysine-specific demethylase 6A, carries somatic mutations in PDAC. Here, we show that pancreas-specific Hnf1a null mutant transcriptomes phenocopy those of Kdm6a mutations, and both defects synergize with Kras to cause PDAC with sarcomatoid features.

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Elevated blood lactate after moderate exercise was reported in some of patients with myalgic encephalomyelitis/chronic fatigue syndrome (ME/CFS). We hypothesised that blood lactate could be also elevated in resting conditions. We aimed investigating the frequency of elevated lactate at rest in ME/CFS patients, and comparing characteristics of ME/CFS patients with and without elevated lactate.

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Article Synopsis
  • * Results show that patients with incomplete chimerism have a higher risk of relapse and lower overall survival rates, with a significant correlation between increased recipient DNA and relapse risk.
  • * Both chimerism monitoring and WT1 quantification demonstrated comparable effectiveness in predicting relapse, indicating that CD3-negative chimerism monitoring could be a valuable tool for patients lacking specific molecular markers.
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Objective: Enteroendocrine cells (EECs) of the gastro-intestinal tract sense gut luminal factors and release peptide hormones or serotonin (5-HT) to coordinate energy uptake and storage. Our goal is to decipher the gene regulatory networks controlling EECs specification from enteroendocrine progenitors. In this context, we studied the role of the transcription factor Rfx6 which had been identified as the cause of Mitchell-Riley syndrome, characterized by neonatal diabetes and congenital malabsorptive diarrhea.

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Article Synopsis
  • Genetic studies are uncovering the molecular mechanisms of type 2 diabetes (T2D) by focusing on variants found in enhancer clusters and super-enhancers specific to certain tissues.
  • The researchers created 3D promoter capture Hi-C maps of human pancreatic islets, linking diabetes-related enhancers to their distant target genes and identifying over 1,300 groups of islet enhancers and promoters that form functional 3D hubs.
  • These findings suggest that genetic variations within these hubs affect insulin secretion heritability and can be used to develop polygenic scores to predict T2D risk.
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  • Classical Philadelphia-negative myeloproliferative neoplasms include Polycythemia Vera (PV), Essential Thrombocythemia (ET), and Primary Myelofibrosis (PMF), linked to specific driver mutations in the JAK2, CALR, or MPL genes.
  • * The study found that the WT1 transcript is overexpressed in patients with PMF and PV compared to healthy controls, with significantly higher levels in PMF.
  • * High levels of the WT1 transcript in PMF are associated with older age, splenomegaly, and thrombocytopenia, and can be a reliable diagnostic marker for PMF when levels exceed 10 copies/10ABL1.
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Article Synopsis
  • lncRNAs (long non-coding RNAs) are diverse molecules that play significant roles in regulating gene transcription, particularly in specific cell types like pancreatic islet cells.
  • Recent studies reveal that certain lncRNAs are involved in controlling the expression of transcription factors important for β cell function, although the exact mechanisms remain largely unclear.
  • The review highlights the challenges in studying these lncRNAs and suggests that they could be potential targets for diabetes-related gene modulation.
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  • Donor cell leukemia (DCL) is a rare complication that can occur after receiving a stem cell transplant, making it hard to estimate its true incidence; improved testing methods have helped identify it better.
  • The article reports on two unique cases of donor cell-derived acute promyelocytic leukemia (APL) in patients who had previously undergone hematopoietic stem cell transplantation (HSCT), highlighting that this issue is quite rare.
  • The study emphasizes the need for long-term monitoring of transplant recipients to better understand DCL's genetic factors and responses to treatments like donor lymphocyte infusion, especially as the number of transplants increases globally.
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One of the major environmental issues in Finland is the presence of large tracts of acid sulfate soil (ASS) landscapes along the coast. Accurately identifying the distribution of ASS sediments, and in particular soil pH, is essential for developing targeted management strategies. One approach is the use of digital soil mapping (DSM) with various ancillary information.

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Repair Schwann cells play a critical role in orchestrating nerve repair after injury, but the cellular and molecular processes that generate them are poorly understood. Here, we perform a combined whole-genome, coding and non-coding RNA and CpG methylation study following nerve injury. We show that genes involved in the epithelial-mesenchymal transition are enriched in repair cells, and we identify several long non-coding RNAs in Schwann cells.

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Recent studies have uncovered thousands of long non-coding RNAs (lncRNAs) in human pancreatic β cells. β cell lncRNAs are often cell type specific and exhibit dynamic regulation during differentiation or upon changing glucose concentrations. Although these features hint at a role of lncRNAs in β cell gene regulation and diabetes, the function of β cell lncRNAs remains largely unknown.

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