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Automated fingerprint analysis as a diagnostic tool for the genetic disorder Kabuki syndrome.
Genet Med Open
August 2024
Faculty of Electrical and Computer Engineering, University of Iceland, Reykjavik, Iceland.
Purpose: Emerging therapeutic strategies for Kabuki syndrome (KS) make early diagnosis critical. Fingerprint analysis as a diagnostic aid for KS diagnosis could facilitate early diagnosis and expand the current patient base for clinical trials and natural history studies.
Method: Fingerprints of 74 individuals with KS, 1 individual with a KS-like phenotype, and 108 controls were collected through a mobile app.
Background: Precision nutrition is based on the integration of individual´s phenotypical and biological characteristics including genetic variants, epigenetic marks, gut microbiota profiles and metabolites fingerprints as well as medical history, lifestyle practices, and environmental and cultural factors. Thus, nutriomics areas including Nutrigenomics, Nutrigenetics, Nutriepigenetics, Nutrimetabolomics, and Nutrimetagenomics have emerged to comprehensively understand the complex interactions between nutrients, diet, and the human body's molecular processes through precision nutrition.
Summary: This document from the Ibero-American Network of Nutriomics and Precision Nutrition (RINN22; https://rinn22.
Histone deacetylase 8 in focus: Decoding structural prerequisites for innovative epigenetic intervention beyond hydroxamates.
Int J Biol Macromol
January 2025
Laboratory of Drug Design and Discovery, Department of Pharmaceutical Technology, Jadavpur University, Kolkata 700032, West Bengal, India. Electronic address:
Histone deacetylase 8 (HDAC8) inhibitors play a pivotal role in epigenetic regulation. Numerous HDAC8 inhibitors (HDAC8is), that are non-hydroxamates have been identified to date, and a few of them exhibit antiproliferative activity that is on par with hydroxamates. While many non-hydroxamate-based HDAC8is have demonstrated selectivity, hydroxamate-based HDAC8is, like Vorinostat and TSA, have a tendency of non-specificity among the different HDAC isoforms.
View Article and Find Full Text PDFUnderstanding the biological processes of kidney carcinogenesis: an integrative multi-omics approach.
Mol Syst Biol
December 2024
Genomic Epidemiology branch, International Agency for Research on Cancer/World Health Organization (IARC/WHO), Lyon, 69366, France.
Biological mechanisms related to cancer development can leave distinct molecular fingerprints in tumours. By leveraging multi-omics and epidemiological information, we can unveil relationships between carcinogenesis processes that would otherwise remain hidden. Our integrative analysis of DNA methylome, transcriptome, and somatic mutation profiles of kidney tumours linked ageing, epithelial-mesenchymal transition (EMT), and xenobiotic metabolism to kidney carcinogenesis.
View Article and Find Full Text PDFHigh-resolution multimodal profiling of human epileptic brain activity via explanted depth electrodes.
JCI Insight
November 2024
Institute for Molecular Medicine, University of Southern Denmark, Odense M, Denmark.
The availability and integration of electrophysiological and molecular data from the living brain is critical to understand and diagnose complex human disease. Intracranial stereo electroencephalography (SEEG) electrodes used for identifying the seizure focus on epilepsy patients could enable the integration of such multimodal data. Here, we report MoPEDE (Multimodal Profiling of Epileptic Brain Activity via Explanted Depth Electrodes), a method that recovers extensive protein-coding transcripts, including cell-type markers, DNA methylation and short variant profiles from explanted SEEG electrodes matched with electrophysiological and radiological data allowing for high-resolution reconstructions of brain structure and function.
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