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Kabuki syndrome (KS) is a genetic disorder caused by DNA mutations in KMT2D, a lysine methyltransferase that methylates histones and other proteins, and therefore modifies chromatin structure and subsequent gene expression. Ketones, derived from the ketogenic diet, are histone deacetylase inhibitors...
ORGANISM(S): Homo sapiens (Human) 
2024-06-23 | PXD050547 | Pride
Trikafta, a CFTR modulator, is increasingly used to treat children with cystic fibrosis (CF), but its effects remain unclear. This study evaluated the cellular mechanisms of Trikafta in young children (< 11 years) with CF using a multi-omic approach. Seventeen children with CF (median age 8.4 years,...
ORGANISM(S): Homo sapiens (Human) 
2026-08-03 | PXD060637 | Pride
Paediatric acute-onset neuropsychiatric Syndrome (PANS) is a syndrome of infection-provoked abrupt-onset obsessive-compulsive disorder (OCD) or eating restriction. This open-label trial investigated the safety and efficacy of NTI164, a cannabis-derived medicinal formulation rich in cannabinoids (min...
ORGANISM(S): Homo sapiens (Human) 
2026-03-16 | PXD064184 | Pride
The formation of a zygote by the fusion of egg and sperm involves the two gametic transcriptomes. In flowering plants, the embryo sac embedded within the ovule contains the egg cell, while the pollen grain contains two sperm cells inside a supporting vegetative cell. The difficulties of collecting ...
ORGANISM(S): Oryza sativa Japonica Group 
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