E Leitão, C Schröder, I Parenti, C Dalle… - Nature …, 2022 - nature.com
Disease gene discovery on chromosome (chr) X is challenging owing to its unique modes of inheritance. We undertook a systematic analysis of human chrX genes. We observe a higher …
Autism spectrum disorder (ASD) displays a notable male bias in prevalence. Research into rare (< 0.1) genetic variants on the X chromosome has implicated over 20 genes in ASD …
The enhanced cognitive abilities characterizing the human species result from specialized features of neurons and circuits. Here, we report that the hominid-specific gene LRRC37B …
P Bernardo, C Cuccurullo, M Rubino, G De Vita… - International Journal of …, 2024 - mdpi.com
X-linked epilepsies are a heterogeneous group of epileptic conditions, which often overlap with X-linked intellectual disability. To date, various X-linked genes responsible for epilepsy …
S Seiffert, M Pendziwiat, T Bierhals, H Goel… - …, 2022 - thelancet.com
Summary Objective Fibroblast Growth Factor 12 (FGF12) may represent an important modulator of neuronal network activity and has been associated with developmental and …
Z Xie, S Sun, H Ji, M Miao, W He, X Song… - Journal of Hazardous …, 2024 - Elsevier
Epidemiological studies regarding the relationship between per-and polyfluoroalkyl substances (PFAS) and DNA methylation were limited. We investigated the associations of …
S Lin, AR Gade, HG Wang, JE Niemeyer, A Galante… - eLife, 2025 - elifesciences.org
Developmental and epileptic encephalopathies (DEEs), a class of devastating neurological disorders characterized by recurrent seizures and exacerbated by disruptions to …
A Gędaj, A Chorążewska, K Ciura, R Karelus… - Cell Communication and …, 2024 - Springer
Galectins constitute a class of lectins that specifically interact with β-galactoside sugars in glycoconjugates and are implicated in diverse cellular processes, including transport …
Developmental and epileptic encephalopathies (DEE) are a genetically heterogeneous group of disorders characterised by early onset epilepsy, epileptiform activity on …