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
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 …