Background Intellectual disability (ID) is a clinically important disease and a most prevalent
neurodevelopmental disorder. The etiology and pathogenesis of ID are poorly recognized …

Neural tube defects (NTDs) occur secondary to failed closure of the neural tube between the
third and fourth weeks of gestation. The worldwide incidence ranges from 0.3 to 200 per …

Newer sequencing technologies decipher molecular variations and increase the knowledge
of pathogenesis of complex diseases like intellectual disability (ID), affecting 2–3% of the …

Abstract Background Neural tube defects (NTDs) are common congenital malformations
resulting in failure of the neural tube closure during early embryonic development. Although …

BACKGROUND There is compelling evidence that the risk of spina bifida, a malformation of
the caudal neural tube, is associated with maternal and/or embryonic disturbances in …

Abnormal activity of LINE-1 transposable elements has been associated with neurological
disease. In this issue of Neuron, Takahashi et al.(2022) show that L1 hyperactivity occurs in …

RNA polymerase (Pol) III transcribes small untranslated RNAs such as 5S ribosomal RNA,
transfer RNAs, and U6 small nuclear RNA. Because of the functions of these RNAs, Pol III …

Despite compelling epidemiological evidence that folic acid supplements reduce the
frequency of neural tube defects (NTDs) in newborns, common variant association studies …

Mammalian cells contain two isoforms of RNA polymerase III (Pol III) that differ in only a
single subunit, with POLR3G in one form (Pol IIIα) and the related POLR3GL in the other …

DNA damage response (DDR) genes orchestrating the network of DNA repair, cell cycle
control, are essential for the rapid proliferation of neural progenitor cells. To date, the …