Epigenetic genes and epilepsy—emerging mechanisms and clinical applications

KMJ Van Loo, GL Carvill, AJ Becker… - Nature Reviews …, 2022 - nature.com
An increasing number of epilepsies are being attributed to variants in genes with epigenetic
functions. The products of these genes include factors that regulate the structure and …

To speak may draw on epigenetic writing and reading: Unravelling the complexity of speech and language outcomes across chromatin-related neurodevelopmental …

M St John, T Tripathi, AT Morgan, DJ Amor - Neuroscience & Biobehavioral …, 2023 - Elsevier
Speech and language development are complex neurodevelopmental processes that are
incompletely understood, yet current evidence suggests that speech and language …

[HTML][HTML] SWD1 epigenetically chords fungal morphogenesis, aflatoxin biosynthesis, metabolism, and virulence of Aspergillus flavus

X Pan, L Hao, C Yang, H Lin, D Wu, X Chen… - Journal of Hazardous …, 2023 - Elsevier
As the main producer of aflatoxins, Aspergillus flavus is also one of the most important
causes of invasive and non-invasive aspergillosis. Therefore, it is crucial to unravel the …

Leveraging AI Advances and Online Tools for Structure‐Based Variant Analysis

FJ Guzmán‐Vega, AC González‐Álvarez… - Current …, 2023 - Wiley Online Library
Understanding how a gene variant affects protein function is important in life science, as it
helps explain traits or dysfunctions in organisms. In a clinical setting, this understanding …

[HTML][HTML] The role of histone methyltransferases in neurocognitive disorders associated with brain size abnormalities

FD Ritchie, SB Lizarraga - Frontiers in Neuroscience, 2023 - frontiersin.org
Brain size is controlled by several factors during neuronal development, including neural
progenitor proliferation, neuronal arborization, gliogenesis, cell death, and synaptogenesis …

[HTML][HTML] The classification and prediction of ferroptosis-related genes in ALS: a pilot study

Q Zhang, H Zhao, M Luo, X Cheng, Y Li, Q Li… - Frontiers in …, 2022 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by
progressive muscle paralysis, which is followed by degeneration of motor neurons in the …

[HTML][HTML] A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders

A Ben-Mahmoud, KR Jun, V Gupta, P Shastri… - Frontiers in Molecular …, 2022 - frontiersin.org
Genome-wide chromosomal microarray is extensively used to detect copy number variations
(CNVs), which can diagnose microdeletion and microduplication syndromes. These small …

SETD1A function in leukemia is mediated through interaction with mitotic regulators BuGZ/BUB3

S Perlee, S Kikuchi, T Nakadai, T Masuda, S Ohtsuki… - EMBO …, 2023 - embopress.org
Abstract The H3K4 methyltransferase SETD1A plays a crucial role in leukemia cell survival
through its noncatalytic FLOS domain‐mediated recruitment of cyclin K and regulation of …

The non-coding genome in genetic brain disorders: new targets for therapy?

E Medico-Salsench, F Karkala, K Lanko… - Essays in …, 2021 - portlandpress.com
The non-coding genome, consisting of more than 98% of all genetic information in humans
and once judged as 'Junk DNA', is increasingly moving into the spotlight in the field of …

Treatability of the KMT2‐Associated Neurodevelopmental Disorders Using Antisense Oligonucleotide‐Based Treatments

B Zardetto, W van Roon-Mom, A Aartsma-Rus… - Human …, 2024 - Wiley Online Library
Neurodevelopmental disorders (NDDs) of genetic origin are a group of early‐onset
neurological diseases with highly heterogeneous etiology and a symptomatic spectrum that …