Previous studies showed that Tctex‐1 immunoreactivity is selectively enriched in the
germinal zones of adult brain. In this report we identify a regulatory region of the Tctex‐1 …

Potassium channel tetramerization domain‐containing 10 gene (KCTD10) belongs to the
polymerase delta‐interacting protein 1 (PDIP1) gene family. Mouse KCTD10 was thought to …

Background Neural tube defects (NTDs) are debilitating birth defects involving the central
nervous system (CNS). Despite recent advances, NTDs represent the second most common …

The search for genetic determinants of human neural tube def... : Current Opinion in
Pediatrics The search for genetic determinants of human neural tube defects : Current …

The blood–brain barrier ensures CNS homeostasis and protection from injury. Claudin-5
(CLDN5), an important component of tight junctions, is critical for the integrity of the blood …

TCF4 haploinsufficiency by deletions, truncating variants or loss‐of‐function missense
variants within the DNA‐binding and protein interacting bHLH domain causes Pitt‐Hopkins …

Background Dravet syndrome is a severe form of epilepsy. Majority of patients have a
mutation in SCN1A gene, which encodes a voltage-gated sodium channel. A recent study …

Abstract Background Copy number variations (CNVs) can contribute to variable degrees of
fitness and/or disease predisposition. Recent studies show that at least 1% of any given …

KCTD family proteins typically assemble into Cullin-RING E3 ligases. KCTD1 is an atypical
member that functions instead as a transcriptional repressor. Mutations in KCTD1 cause …

RNA sequencing (RNAseq) is emerging as a complementary tool to DNA sequencing,
providing utility in diagnosis for disorders such as neuronal ceroid lipofuscinosis CLN2 …