Loss of zebrafish ctnnd2b results in disorganised forebrain neuron clusters

W Hofmeister, R Vaz, S Edwards, A Dueñas Rey… - bioRxiv, 2018 - biorxiv.org
Delta catenin (CTNND2) is an adhesive junction associated protein belonging to the family
of p120ct catenins. It is located on the short arm of chromosome 5, a region deleted in Cri-du …

Cecr2 mutations causing exencephaly trigger misregulation of mesenchymal/ectodermal transcription factors

NA Fairbridge, CE Dawe, FH Niri… - … Research Part A …, 2010 - Wiley Online Library
BACKGROUND: Over 200 mouse genes are associated with neural tube defects (NTDs),
including Cecr2, the bromodomain‐containing subunit of the CERF chromatin remodeling …

[引用][C] Importance of model organisms in understanding the biology and genetic basis of human nonsyndromic neural tube defects

J Gelineau‐Van Waes, RH Finnell - Teratology, 2001 - Wiley Online Library
Neural tube defects (NTDs), including both spina bifida and anencephaly, are common
human congenital malformations that appear to be etiologically heterogeneous (Holmes et …

Histone deacetylase 3 associates with MeCP2 to regulate FOXO and social behavior

A Nott, J Cheng, F Gao, YT Lin, E Gjoneska, T Ko… - Nature …, 2016 - nature.com
Mutations in MECP2 cause the neurodevelopmental disorder Rett syndrome (RTT). The RTT
missense MECP2 R306C mutation prevents MeCP2 from interacting with the NCoR/histone …

[HTML][HTML] 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 …

Nonsyndromic early-onset epileptic encephalopathies: two novel KCTD7 pathogenic variants and a literature review

S Binaafar, M Garshasbi, AR Tavasoli… - Developmental …, 2021 - karger.com
Early-onset epileptic encephalopathies (EOEE) affect cognitive, sensory, and motor
development. Genetic variations are among the identifiable primary causes of these …

Genetic Variants in KCTD1 Are Associated with Isolated Dental Anomalies

C Ruangchan, C Ngamphiw, A Krasaesin… - International Journal of …, 2024 - mdpi.com
KCTD1 plays crucial roles in regulating both the SHH and WNT/β-catenin signaling
pathways, which are essential for tooth development. The objective of this study was to …

[HTML][HTML] Loss of ctnnd2b affects neuronal differentiation and behavior in zebrafish

R Vaz, S Edwards, A Dueñas-Rey… - Frontiers in …, 2023 - frontiersin.org
Delta-catenin (CTNND2) is an adhesive junction associated protein belonging to the family
of p120 catenins. The human gene is located on the short arm of chromosome 5, the region …

KCTD7 mutations impair the trafficking of lysosomal enzymes through CLN5 accumulation to cause neuronal ceroid lipofuscinoses

Y Wang, X Cao, P Liu, W Zeng, R Peng, Q Shi… - Science …, 2022 - science.org
Lysosomes are central organelles for cellular degradation and energy metabolism.
Neuronal ceroid lipofuscinoses (NCLs) are a group of the most common neurodegenerative …

BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome

KA Miller, DAC Walma, DM Pinkas, RS Tooze… - Journal of Medical …, 2024 - jmg.bmj.com
Introduction KCTD15 encodes an oligomeric BTB domain protein reported to inhibit neural
crest formation through repression of Wnt/beta-catenin signalling, as well as transactivation …