Impact of intragenicNRXN1deletions on early cortical development DOI Creative Commons
Lucia Dutan, Nicholas J. F. Gatford, Thaise Nayane Ribeiro Carneiro

et al.

bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown

Published: Aug. 26, 2024

Abstract Background Deletions in NRXN1 are strongly associated with neurodevelopmental and psychiatric conditions. While exonic deletions well-studied, intragenic deletions, particularly intron 5, less understood generally consider benign. Recent studies show impact isoform diversity during neurodevelopment, affecting neurogenesis neuronal function. However, whether expression neurodevelopment remains underexplored. Methods We used hiPSCs from typically developing individuals (control) those 5 to study neurodevelopment. HiPSCs were differentiated towards a cortical fate, expression, molecular differences, morphology examined. Results observed distinct dynamics early two peaks post-neuronal induction NRXN1β being most highly expressed. Both deletion control lines showed similar acquisition of regional cell fate identity, but significant differences between lines, lines. RNA sequencing revealed genotype-dependent alterations, pathways related synaptic function morphology. Consistent these findings, exhibited altered dendrite outgrowth, variations Conclusions Our results indicate potential role for controlling Alterations gene profiles, correlated morphological changes, suggest isoforms shaping dendritic Molecular cellular identical intronic that additional factors, such as genetic background or biological sex, may also play an important phenotypes. Collectively, findings not benign, influencing phenotypes,

Language: Английский

New advances in the diagnosis and treatment of autism spectrum disorders DOI Creative Commons
Lei Qin, Haijiao Wang,

Wenjing Ning

et al.

European journal of medical research, Journal Year: 2024, Volume and Issue: 29(1)

Published: June 10, 2024

Language: Английский

Citations

14
Identification of novel diagnostic and prognostic microRNAs in sarcoma on TCGA dataset: bioinformatics and machine learning approach DOI Creative Commons
Rahem Rahmati, Fatemeh Zarimeidani,

Farnaz Ahmadi

et al.

Scientific Reports, Journal Year: 2025, Volume and Issue: 15(1)

Published: March 4, 2025

Language: Английский

Citations

0
Small SNPs, Big Effects: A Review of Single Nucleotide Variations and Polymorphisms in Key Genes Associated With Autism Spectrum Disorder DOI
Srinath Satyanarayana,

Akanksha A. Kalal,

Priyanka Anand

et al.

International Journal of Developmental Neuroscience, Journal Year: 2025, Volume and Issue: 85(2)

Published: April 1, 2025

ABSTRACT Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterised by significant genetic variation. This article examines alterations linked to ASD, with specific emphasis on single nucleotide polymorphisms (SNPs) and variants (SNVs). Recent genome‐wide association studies (GWAS) have identified several variations associated ASD. Although their precise roles remain unclear, such significantly influence processes. Mutations in SHANK3 NRXN1 , for example, disrupt synaptic activity neurotransmission, contributing ASD intellectual deficits. Similarly, PTEN MECP2 crucial brain development, are abnormal cell proliferation disorders when mutated. CHD8 key regulator of chromatin remodelling, strongly its mutations impacting transcriptional regulation neurodevelopment, while SCN2A neuronal excitability transmission. In this review, we discuss SNPs SNVs across these six genes, summarise impact the aetiology A shift focus autism genetics giving equal importance minor critical better understand intricate create treatment strategies.

Language: Английский

Citations

0
Decoding the genetic landscape of autism: A comprehensive review DOI Open Access
Mohammed Al‐Beltagi,

Nermin Kamal Saeed,

Adel Salah Bediwy

et al.

World Journal of Clinical Pediatrics, Journal Year: 2024, Volume and Issue: 13(3)

Published: Aug. 29, 2024

Autism spectrum disorder (ASD) is a complex neurodevelopmental condition characterized by heterogeneous symptoms and genetic underpinnings. Recent advancements in epigenetic research have provided insights into the intricate mechanisms contributing to ASD, influencing both diagnosis therapeutic strategies.

Language: Английский

Citations

2
Impact of intragenicNRXN1deletions on early cortical development DOI Creative Commons
Lucia Dutan, Nicholas J. F. Gatford, Thaise Nayane Ribeiro Carneiro

et al.

bioRxiv (Cold Spring Harbor Laboratory), Journal Year: 2024, Volume and Issue: unknown

Published: Aug. 26, 2024

Abstract Background Deletions in NRXN1 are strongly associated with neurodevelopmental and psychiatric conditions. While exonic deletions well-studied, intragenic deletions, particularly intron 5, less understood generally consider benign. Recent studies show impact isoform diversity during neurodevelopment, affecting neurogenesis neuronal function. However, whether expression neurodevelopment remains underexplored. Methods We used hiPSCs from typically developing individuals (control) those 5 to study neurodevelopment. HiPSCs were differentiated towards a cortical fate, expression, molecular differences, morphology examined. Results observed distinct dynamics early two peaks post-neuronal induction NRXN1β being most highly expressed. Both deletion control lines showed similar acquisition of regional cell fate identity, but significant differences between lines, lines. RNA sequencing revealed genotype-dependent alterations, pathways related synaptic function morphology. Consistent these findings, exhibited altered dendrite outgrowth, variations Conclusions Our results indicate potential role for controlling Alterations gene profiles, correlated morphological changes, suggest isoforms shaping dendritic Molecular cellular identical intronic that additional factors, such as genetic background or biological sex, may also play an important phenotypes. Collectively, findings not benign, influencing phenotypes,

Language: Английский

Citations

0