Publications by authors named "Michaela Hiber"
Article Synopsis
- - Angelman syndrome (AS) is a neurodevelopmental disorder characterized by symptoms such as a joyful demeanor, intellectual disability, ataxia, and seizures.
- - The condition arises from genetic and epigenetic issues leading to a lack of the UBE3A protein in the brain, which is normally expressed only from the mother's chromosome 15.
- - The iPSC line mentioned in the study was created from the skin cells of an AS patient who had a defect in DNA methylation at the chromosome 15 imprinting center, affecting UBE3A expression.
Article Synopsis
- The text refers to a correction made to a scientific article published under the DOI: 10.1038/srep30792.
- This correction addresses inaccuracies or errors that were identified in the original publication.
- Such corrections are important for maintaining the integrity and reliability of scientific literature.
Article Synopsis
- - Genomic imprinting is an epigenetic mechanism that causes genes to be expressed differently depending on which parent they come from, and mistakes in this process can lead to conditions like Angelman syndrome, characterized by a lack of functional UBE3A protein in brain neurons.
- - Researchers created a human neuronal model for Angelman syndrome by reprogramming skin cells from a patient with a specific mutation in the UBE3A gene into induced pluripotent stem cells (iPSCs), allowing for the study of both parental gene contributions.
- - The iPSCs demonstrated stability in the regulatory region for UBE3A expression and showed late-stage changes in gene activity during neuron development, making it a valuable tool for understanding
The human RB1 gene is imprinted due to integration of the PPP1R26P1 pseudogene into intron 2. PPP1R26P1 harbors the gametic differentially methylated region of the RB1 gene, CpG85, which is methylated in the female germ line. The paternally unmethylated CpG85 acts as promoter for the alternative transcript 2B of RB1, which interferes with expression of full-length RB1 in cis.
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- The human retinoblastoma gene (RB1) is subject to genomic imprinting, influenced by specific methylation patterns on a CpG island (CpG85) located in the pseudogene PPP1R26P1, which affects RB1's expression.
- Mouse Rb1 does not exhibit this imprinting, indicating a difference in how the genes are regulated across species.
- Research using an embryonic stem cell model demonstrated that PPP1R26P1 acts as a cis-repressive element, resulting in reduced expression of the full-length RB1 transcript from the paternal allele when its CpG85 is unmethylated.
Unlabelled: Farnesoid X receptor (FXR/Fxr) is a bile acid-regulated nuclear receptor that promotes hepatic bile acid metabolism, detoxification, and liver regeneration. However, the adaptive pathways under conditions of bile acid stress are not fully elucidated. We found that wild-type but not Fxr knockout mice on diets enriched with chenodeoxycholic acid (CDCA) increase their liver/body weight ratios by 50% due to hepatocellular hypertrophy.
View Article and Find Full Text PDFCaveolin-1 is a scaffold protein of caveolae that acts as a tumor modulator by interacting with cell adhesion molecules and signaling receptors. The role of caveolin-1 in the pathogenesis of gastric cancer (GC) is currently unknown. We show by confocal immunofluorescence microscopy and immunohistochemistry of biopsies from GC patients (n = 41) that the nonneoplastic mucosa expressed caveolin-1 in foveolar epithelial cells and adjacent connective tissue.
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