Publications by authors named "Maria Melheim"
Article Synopsis
- * Key findings reveal that expression of aquaporins (AQP8 and AQP9) increases during cell differentiation, but AQP8 protein levels decrease post-hypoxia despite increased mRNA levels after reoxygenation.
- * The research indicates that post-transcriptional mechanisms, rather than transcription changes, lead to reduced AQP8 protein concentration after hypoxia and reoxygenation events in liver cells.
Article Synopsis
- Aagenaes syndrome is an autosomal recessive condition that includes symptoms like neonatal cholestasis, lymphedema, and giant cell hepatitis, with its genetic cause previously unknown.
- Researchers studied 26 patients and their parents using techniques like whole-genome sequencing and CRISPR to pinpoint genetic variants affecting the disease.
- The study identified a specific variant (c.-98G>T) in the UNC45A gene present in all patients, indicating it as the genetic cause of Aagenaes syndrome, and showed reduced expression of the UNC45A protein in affected individuals.
Article Synopsis
- Birth asphyxia is a leading cause of mortality and disability in children globally, with long non-coding RNAs (lncRNAs) presenting potential targets for new treatments due to their regulatory functions.
- A study using piglets examined key lncRNAs involved in oxidative stress and related processes, dividing 42 newborn subjects across four experimental conditions including varying reoxygenation methods after hypoxia.
- Results showed that exposure to hypoxia significantly affected lncRNA transcription levels, suggesting that these molecules play a crucial role in the brain's response to damage from perinatal asphyxia and could lead to future therapeutic strategies.
Neonatal piglets have been extensively used as translational models for perinatal asphyxia. In 2007, we adapted a well-established piglet asphyxia model by introducing cardiac arrest. This enabled us to study the impact of severe asphyxia on key outcomes, including the time taken for the return of spontaneous circulation (ROSC), as well as the effect of chest compressions according to alternative protocols for cardiopulmonary resuscitation.
View Article and Find Full Text PDFBackground: Since the discovery more than half a century ago, cell-free DNA (cfDNA) has become an attractive objective in multiple diagnostic, prognostic, and monitoring settings. However, despite the increasing number of cfDNA applications in liquid biopsies, we still lack a comprehensive understanding of the nature of cfDNA including optimal assessment. In the presented study, we continued testing and validation of common techniques for cfDNA extraction and quantification (qRT-PCR or droplet digital PCR) of nuclear- and mitochondrial cfDNA (ncfDNA and mtcfDNA) in blood, using a piglet model of perinatal asphyxia to determine potential temporal and quantitative changes at the levels of cfDNA.
View Article and Find Full Text PDFBackground: Circulatory miRNAs are promising biomarkers. The feasibility of using miRNA from dried blood spots (DBS) was investigated using newborn screening cards from patients with cholestasis-lymphedema syndrome (Aagenaes syndrome) and controls.
Methods: Total amount of miRNA and specific miRNAs from DBS were analyzed.
The majority of colorectal cancers are induced by subsequent mutations in and genes leading to aberrant activation of both canonical WNT and RAS signaling. However, due to induction of feedback rescue mechanisms some cancers do not respond well to targeted inhibitor treatments. In this study we show that the and mutant human colorectal cancer cell line HCT-15 induces canonical WNT signaling through YAP in a MEK dependent mechanism.
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