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 …
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 …
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 …
human congenital malformations that appear to be etiologically heterogeneous (Holmes et …
Histone deacetylase 3 associates with MeCP2 to regulate FOXO and social behavior
Mutations in MECP2 cause the neurodevelopmental disorder Rett syndrome (RTT). The RTT
missense MECP2 R306C mutation prevents MeCP2 from interacting with the NCoR/histone …
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 …
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 …
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 …
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 …
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 …
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 …
crest formation through repression of Wnt/beta-catenin signalling, as well as transactivation …