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Pathogenic bi-allelic variants in VWA1, encoding Von Willebrand Factor A domain containing 1 protein localized to the extracellular matrix were recently linked to the manifestation of a neuromuscular disorder with manifestation in child- or adulthood. Myopathological and neurophysiological findings ...
ORGANISM(S): Homo sapiens (Human) 
2024-05-24 | PXD040226 | Pride
Genome-wide association studies (GWAS) have identified many risk genes for neuropsychiatric disorders (NPD) such as schizophrenia (SCZ). However, functional interpretation of these GWAS findings remains challenging; a major hurdle is that polygenic risk may manifest its effect conditionally upon neu...
ORGANISM(S): Homo sapiens 
2025-01-17 | GSE286488 | GEO
Aberrant DNA hypermethylation, the most well defined epigenetic changes in cancer, is associated with inappropriate gene silencing and this feature is utilized to search for tumor-specific DNA methylation biomarkers. Methyl-CpG binding domain (MBD) proteins (MBPs) can elicit the repressive potential...
ORGANISM(S): Homo sapiens 
2020-10-11 | GSE141247 | GEO
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