Wnt/β‐catenin signaling in brain development and mental disorders: keeping TCF7L2 in mind
J Bem, N Brożko, C Chakraborty, MA Lipiec… - FEBS …, 2019 - Wiley Online Library
Canonical Wnt signaling, which is transduced by β‐catenin and lymphoid enhancer factor
1/T cell‐specific transcription factors (LEF1/TCFs), regulates many aspects of metazoan …
1/T cell‐specific transcription factors (LEF1/TCFs), regulates many aspects of metazoan …
[HTML][HTML] Modelling learning and memory in Drosophila to understand intellectual disabilities
V Mariano, T Achsel, C Bagni, AK Kanellopoulos - Neuroscience, 2020 - Elsevier
Neurodevelopmental disorders (NDDs) include a large number of conditions such as Fragile
X syndrome, autism spectrum disorders and Down syndrome, among others. They are …
X syndrome, autism spectrum disorders and Down syndrome, among others. They are …
Individuals with FOXP1 syndrome present with a complex neurobehavioral profile with high rates of ADHD, anxiety, repetitive behaviors, and sensory symptoms
MP Trelles, T Levy, B Lerman, P Siper, R Lozano… - Molecular Autism, 2021 - Springer
Background FOXP1 syndrome is an autosomal dominant neurodevelopmental disorder
characterized by intellectual disability, developmental delay, speech and language delays …
characterized by intellectual disability, developmental delay, speech and language delays …
Molecular and clinical repercussions of GABA transporter 1 variants gone amiss: links to epilepsy and developmental spectrum disorders
FP Fischer, AS Kasture, T Hummel… - Frontiers in molecular …, 2022 - frontiersin.org
The human γ-aminobutyric acid (GABA) transporter 1 (hGAT-1) is the first member of the
solute carrier 6 (SLC6) protein superfamily. GAT-1 (SLC6A1) is one of the main GABA …
solute carrier 6 (SLC6) protein superfamily. GAT-1 (SLC6A1) is one of the main GABA …
De novo variants in TCF7L2 are associated with a syndromic neurodevelopmental disorder
C Dias, R Pfundt, T Kleefstra… - American journal of …, 2021 - Wiley Online Library
TCF7L2 encodes transcription factor 7‐like 2 (OMIM 602228), a key mediator of the
evolutionary conserved canonical Wnt signaling pathway. Although several large‐scale …
evolutionary conserved canonical Wnt signaling pathway. Although several large‐scale …
Neuronal cytoskeleton in intellectual disability: from systems biology and modeling to therapeutic opportunities
Intellectual disability (ID) is a pathological condition characterized by limited intellectual
functioning and adaptive behaviors. It affects 1–3% of the worldwide population, and no …
functioning and adaptive behaviors. It affects 1–3% of the worldwide population, and no …
An “omic” overview of fragile X syndrome
O Dionne, F Corbin - Biology, 2021 - mdpi.com
Simple Summary Fragile X syndrome (FXS) is a neurodevelopmental disorder and remains
the most frequent inherited cause of intellectual disability. Fragile X patients are at great risk …
the most frequent inherited cause of intellectual disability. Fragile X patients are at great risk …
Cellular models and high-throughput screening for genetic causality of intellectual disability
Intellectual disabilities (ID) are a type of neurodevelopmental disorder (NDD). They can
have a genetic cause, including an emerging class of ID centring around Rho GTPases …
have a genetic cause, including an emerging class of ID centring around Rho GTPases …
Meta-analysis of 46,000 germline de novo mutations linked to human inherited disease
M Lopes-Marques, M Mort, J Carneiro, A Azevedo… - Human Genomics, 2024 - Springer
Abstract Background De novo mutations (DNMs) are variants that occur anew in the
offspring of noncarrier parents. They are not inherited from either parent but rather result …
offspring of noncarrier parents. They are not inherited from either parent but rather result …
Bioinformatics analysis revealed novel 3′ UTR variants associated with intellectual disability
J Yang, A Liu, I He, Y Bai - Genes, 2020 - mdpi.com
MicroRNAs (or miRNAs) are short nucleotide sequences (~ 17–22 bp long) that play
important roles in gene regulation through targeting genes in the 3′ untranslated regions …
important roles in gene regulation through targeting genes in the 3′ untranslated regions …