DUOXA2-mediated thyroid hormone synthesis is indispensable for postnatal maturation of auditory function.

Transcriptomics Implicates the G3BP1–SG Axis in Cochlear Hair‐Cell Pyroptosis During Age‐Related Hearing Loss

Age‐related hearing loss (ARHL) is a degenerative change in the auditory system, but its underlying mechanism remains unclear. In this study, using RNA sequencing technology, we analysed the expression profiles of mRNAs in the cochlear tissues of ARHL‐susceptible C57BL/6J (C57) mice and relatively resistant CBA/CaJ (CB...

Tmlhe deficiency induces neurodevelopmental dysfunction and synaptic excitatory/inhibitory imbalance linked to autism-like phenotypes in zebrafish.

It is demonstrated that tmlhe deficiency disrupts carnitine biosynthesis, impairing energy and glycerophospholipid metabolism, which is critical for early neurogenesis, which may lead to impaired neural development and a synaptic E/I imbalance, ultimately causing ASD-like phenotypes.

Gain- and loss-of-function mutations cause perinatal lethality in mouse models of Birk-Barel syndrome

Elucidating the role of DEAF1 in neurodevelopment and shared molecular pathways in high-risk autism genes using cortical organoids

This work shows that a DEAF1 mutation in human embryonic stem cells disrupts chromatin accessibility at neuronal gene loci, leading to significant transcriptional alterations, and identifies WNT signaling, TGFβ superfamily signaling, and cell cycle regulation as commonly dysregulated pathways across multiple ASD-associ...

NSD2 deficiency disrupts the epigenetic landscape of cochlear hair cells to enhance ECM expression and to perturb cochlear hair cell function

An NR2F1-dependent retinoic acid network controls retinal specialization in mice and reveals foveal hypoplasia in patients with BBSOAS

An NR2F1-RA/CYP26A1 regulatory axis linking developmental retinal regionalization to human foveal specialization is established and human NR2F1 binds a conserved regulatory region upstream of CYP26A1, supporting its direct role in regulating local RA availability.