[HTML][HTML] Dominant-negative variants in CBX1 cause a neurodevelopmental disorder

Y Kuroda, A Iwata-Otsubo, KR Dias, SEL Temple… - Genetics in …, 2023 - Elsevier
Purpose This study aimed to establish variants in CBX1, encoding heterochromatin protein
1β (HP1β), as a cause of a novel syndromic neurodevelopmental disorder. Methods Patients …

Clinical impact and in vitro characterization of ADNP variants in pediatric patients

C Ge, Y Tian, C Hu, L Mei, D Li, P Dong, Y Zhang, H Li… - Molecular Autism, 2024 - Springer
Abstract Background Helsmoortel–Van der Aa syndrome (HVDAS) is a rare genetic disorder
caused by variants in the activity-dependent neuroprotector homeobox (ADNP) gene; …

Effects of microgravity on neural crest stem cells

Y Han, P Barasa, L Zeger, SB Salomonsson… - Frontiers in …, 2024 - frontiersin.org
Exposure to microgravity (μg) results in a range of systemic changes in the organism, but
may also have beneficial cellular effects. In a previous study we detected increased …

miR-377-3p Regulates Hippocampal Neurogenesis via the Zfp462-Pbx1 Pathway and Mediates Anxiety-Like Behaviors in Prenatal Hypoxic Offspring

B Wang, Y Zhu, B Wei, H Zeng, P Zhang, L Li… - Molecular …, 2024 - Springer
Prenatal hypoxia (PH) is one of the most common complications of obstetrics and is closely
associated with many neurological disorders such as depression, anxiety, and cognitive …

ProA and ProB repeat sequences shape genome organization, and enhancers open domains

KA Bonnet, N Hulo, R Mourad, A Ewing, O Croce… - bioRxiv, 2023 - biorxiv.org
There is a growing awareness that repeat sequences (RepSeq)-the main constituents of the
human genome-are also prime players in its organization. Here we propose that the …

[HTML][HTML] KDM3A and KDM3B Maintain Naïve Pluripotency Through the Regulation of Alternative Splicing

CM Dillingham, H Cormaty, EC Morgan, AI Tak… - bioRxiv, 2023 - ncbi.nlm.nih.gov
Histone modifying enzymes play a central role in maintaining cell identity by establishing a
conducive chromatin environment for lineage specific transcription factor activity. Pluripotent …