Structural and Functional Aspects of the Neurodevelopmental Gene NR2F1: From Animal Models to Human Pathology

C Tocco, M Bertacchi, M Studer - Frontiers in Molecular Neuroscience, 2021 - frontiersin.org
The assembly and maturation of the mammalian brain result from an intricate cascade of
highly coordinated developmental events, such as cell proliferation, migration, and …

The role of histone methyltransferases in neurocognitive disorders associated with brain size abnormalities

FD Ritchie, SB Lizarraga - Frontiers in Neuroscience, 2023 - frontiersin.org
Brain size is controlled by several factors during neuronal development, including neural
progenitor proliferation, neuronal arborization, gliogenesis, cell death, and synaptogenesis …

CTCF mutation at R567 causes developmental disorders via 3D genome rearrangement and abnormal neurodevelopment

J Zhang, G Hu, Y Lu, H Ren, Y Huang, Y Wen… - Nature …, 2024 - nature.com
The three-dimensional genome structure organized by CTCF is required for development.
Clinically identified mutations in CTCF have been linked to adverse developmental …

[HTML][HTML] Interference of sympathetic overactivation restores limbal stem/progenitor cells function and accelerates corneal epithelial wound healing in diabetic mice

Z Zhang, L Yang, Y Li, D Sun, R Chen, S Dou… - Biomedicine & …, 2023 - Elsevier
Diabetic keratopathy (DK), the diabetic complication in the cornea, is characterized by the
delayed epithelial regeneration and sensory nerve degeneration. The involvement of limbal …

[HTML][HTML] Histone methylation mediated by NSD1 is required for the establishment and maintenance of neuronal identities

Y Zheng, C Zhao, Q Song, L Xu, B Zhang, G Hu… - Cell Reports, 2023 - cell.com
Appropriate histone modifications emerge as essential cell fate regulators of neuronal
identities across neocortical areas and layers. Here we showed that NSD1, the …

A Ctnnb1 enhancer transcriptionally regulates Wnt signaling dosage to balance homeostasis and tumorigenesis of intestinal epithelia

X Hua, C Zhao, J Tian, J Wang, X Miao, G Zheng, M Wu… - Elife, 2024 - elifesciences.org
The β-catenin-dependent canonical Wnt signaling is pivotal in organ development, tissue
homeostasis, and cancer. Here, we identified an upstream enhancer of Ctnnb1–the coding …

Cellular and molecular functions of SETD2 in the central nervous system

B Mitchell, S Thor, M Piper - Journal of Cell Science, 2023 - journals.biologists.com
The covalent modification of histones is critical for many biological functions in mammals,
including gene regulation and chromatin structure. Posttranslational histone modifications …

SETD2 deficiency accelerates sphingomyelin accumulation and promotes the development of renal cancer

H Rao, C Liu, A Wang, C Ma, Y Xu, T Ye, W Su… - Nature …, 2023 - nature.com
Patients with polycystic kidney disease (PKD) encounter a high risk of clear cell renal cell
carcinoma (ccRCC), a malignant tumor with dysregulated lipid metabolism. SET domain …

Clinical Heterogeneity and Different Phenotypes in Patients with SETD2 Variants: 18 New Patients and Review of the Literature

A Parra, R Rabin, J Pappas, P Pascual, M Cazalla… - Genes, 2023 - mdpi.com
SETD2 belongs to the family of histone methyltransferase proteins and has been associated
with three nosologically distinct entities with different clinical and molecular features: Luscan …

Reprogramming of the epigenome in neurodevelopmental disorders

KD Wilson, EG Porter, BA Garcia - Critical reviews in biochemistry …, 2022 - Taylor & Francis
The etiology of neurodevelopmental disorders (NDDs) remains a challenge for researchers.
Human brain development is tightly regulated and sensitive to cellular alterations caused by …