Rare de novo damaging DNA variants are enriched in attention-deficit/hyperactivity disorder and implicate risk genes
Research demonstrates the important role of genetic factors in attention-deficit/hyperactivity
disorder (ADHD). DNA sequencing of families provides a powerful approach for identifying …
disorder (ADHD). DNA sequencing of families provides a powerful approach for identifying …
[HTML][HTML] A Genotype/Phenotype Study of KDM5B-Associated Disorders Suggests a Pathogenic Effect of Dominantly Inherited Missense Variants
MC Borroto, C Michaud, C Hudon, PB Agrawal, K Agre… - Genes, 2024 - mdpi.com
Bi-allelic disruptive variants (nonsense, frameshift, and splicing variants) in KDM5B have
been identified as causative for autosomal recessive intellectual developmental disorder …
been identified as causative for autosomal recessive intellectual developmental disorder …
Deficiency of the histone lysine demethylase KDM5B causes autism-like phenotypes via increased NMDAR signalling
L Pérez-Sisqués, SU Bhatt, A Caruso, MU Ahmed… - bioRxiv, 2024 - biorxiv.org
Loss-of-function mutations in genes encoding lysine methyltransferases (KMTs) and
demethylases (KDMs) responsible for regulating the trimethylation of histone 3 on lysine 4 …
demethylases (KDMs) responsible for regulating the trimethylation of histone 3 on lysine 4 …