Landscape of NRXN1 Gene Variants in Phenotypic Manifestations of Autism Spectrum Disorder: A Systematic Review

JN Cooper, J Mittal, A Sangadi, DL Klassen… - Journal of Clinical …, 2024 - mdpi.com
Background: Autism spectrum disorder (ASD) is a complex neurodevelopmental condition
characterized by social communication challenges and repetitive behaviors. Recent …

[HTML][HTML] A critical review of the impact of candidate copy number variants on autism spectrum disorder

SS Abedini, S Akhavantabasi, Y Liang, J Heng… - … Research-Reviews in …, 2024 - Elsevier
Autism spectrum disorder (ASD) is a complex neurodevelopmental disorder (NDD)
influenced by genetic, epigenetic, and environmental factors. Recent advancements in …

Bi-allelic NRXN1α deletion in microglia derived from iPSC of an autistic patient increases interleukin-6 production and impairs supporting function on neuronal …

R Bose, M Posada-Pérez, E Karvela, M Skandik… - Brain, Behavior, and …, 2024 - Elsevier
Autism spectrum disorder (ASD) is a set of heterogeneous neurodevelopmental conditions,
with a highly diverse genetic hereditary component, including altered neuronal circuits, that …

[HTML][HTML] Delving into the Complexity of Valproate-Induced Autism Spectrum Disorder: The Use of Zebrafish Models

D Camussi, V Naef, L Brogi, S Della Vecchia… - Cells, 2024 - mdpi.com
Autism spectrum disorder (ASD) is a multifactorial neurodevelopmental condition with
several identified risk factors, both genetic and non-genetic. Among these, prenatal …

[HTML][HTML] Structural Variations Identified in Patients with Autism Spectrum Disorder (ASD) in the Chinese Population: A Systematic Review of Case-Control Studies

SY Chair, KM Chow, CWL Chan, JYW Chan, BMH Law… - Genes, 2024 - ncbi.nlm.nih.gov
Autistic spectrum disorder (ASD) is a neurodevelopmental disability characterised by the
impairment of social interaction and communication ability. The alarming increase in its …

A systematic review and pooled analysis of penetrance estimates of copy number variants associated with neurodevelopment

S Goh, L Thiyagarajan, T Dudding-Byth, P Mark… - Genetics in …, 2024 - Elsevier
Purpose Many copy number variants (CNVs) are reported to cause a variety of
neurodevelopmental disabilities including intellectual disability, developmental delay …

Rare heterozygous genetic variants of NRXN and NLGN gene families involved in synaptic function and their association with neurodevelopmental disorders

HB Gerik‐Celebi, H Bolat… - Developmental …, 2024 - Wiley Online Library
The interaction of neurexins (NRXNs) in the presynaptic membrane with postsynaptic cell
adhesion molecules called neuroligins (NLGNs) is critical for this synaptic function. Impaired …

Classification of Brain Magnetic Resonance Imaging Abnormalities and Spectrum of Neurological Findings in a Cohort with Copy Number Variation-Related Disorders

A Türkyılmaz, SG Sağer, E Caliskan, M Akçay… - Molecular …, 2024 - karger.com
Introduction: Copy number variation (CNV) is the difference in the sequence of genomic
segments, which can vary from one kilobase to several megabases. Certain CNVs have …

[PDF][PDF] Building a Better Brain Model: Using hiPSC-derived Astrocytes and Neurons to Generate a Model for Neurodevelopmental Disorders

IM Flessas - 2024 - repository.wellesley.edu
Autism spectrum disorder is a group of heterogeneous neurodevelopmental disorders that
can be genetic in origin and have no known comprehensive pharmacological treatment …