Calcium Signaling and Molecular Adhesion Processes May Hold the Key to Genetic Risk for Autism: A Molecular Pathway Analysis on Two Independent Samples DOI Open Access
Antonio Drago, Marco Calabrò, Concetta Crisafulli

et al.

Genes, Journal Year: 2024, Volume and Issue: 15(12), P. 1609 - 1609

Published: Dec. 17, 2024

Background: Autism spectrum disorder (ASD) is a neurodevelopmental characterized by limited interests, difficulties in social interactions, repetitive behaviors, and impairments communication. ASD tends to run families, twin studies suggest strong genetic basis for the disorder. However, definition of profile that indicates risk remains unclear. Methods: This analysis includes an investigation (Autism Dataset 4 from NIMH repository, n = 2890) replication 3 1233) trio samples with GWAS data. In Phase 1, molecular pathway conducted on sample test enrichment specific Gene Ontology (GO) terms associated autism. 2, identified pathways are tested sample. Permutation tests performed reduce false-positive findings. Quality assessment using QQ-plots λ values, Plink R utilized Transmission Disequilibrium Test (TDT) permutation tests. Results: The GO term GO:0007417 was found be enriched both samples. SNPs this were observed at frequency higher than expected Conclusions: (development nervous system) autism Variations genes TMPRSS4, TRPC4, PCDH9 consistently linked across two independent samples, highlighting role calcium signaling cell adhesion molecules autism-related disorders. variations described detail, which can contribute engineering new pharmacological treatments ASD.

Language: Английский

Non-coding RNA and memory DOI
Sarbani Samaddar, Sourav Banerjee

Elsevier eBooks, Journal Year: 2025, Volume and Issue: unknown

Published: Jan. 1, 2025

Language: Английский

Citations

0
Potential Regulation of ARID1A by miR-129-5p and miR-3613-3p and Their Prognostic Value in Gastric Cancer DOI Open Access
Irina V. Bure, Ekaterina A. Vetchinkina, Alexey I. Kalinkin

et al.

International Journal of Molecular Sciences, Journal Year: 2025, Volume and Issue: 26(1), P. 305 - 305

Published: Jan. 1, 2025

Gastric cancer (GC) remains the most common malignant tumor of gastrointestinal tract and one leading causes cancer-related deaths worldwide. Non-coding RNAs (ncRNAs), including microRNAs (miRNAs), are involved in pathogenesis progression GC and, therefore, may be potential diagnostic prognostic biomarkers. Our work was aimed at investigating predicted regulation ARID1A by miR-129-5p miR-3613-3p clinical value their aberrant expression GC. The study included adjacent non-tumor tissues from 110 patients, 38 sectional normal gastric tissue samples, as well 65 plasma samples patients 49 healthy donors. Expression levels both miRNAs were quantified reverse transcription-polymerase chain reaction (RT-PCR). We have identified significant associations with pathological characteristics plasma. To validate target pairs miR-129-5p/ARID1A miR-3613-3p/ARID1A, vitro experiments on cell lines conducted. obtained results suggest a complex role ARID1A, miRNAs.

Language: Английский

Citations

0
Inhibitor of Growth Proteins: Epigenetic Regulators Shaping Neurobiology DOI Creative Commons
Ziyue Xu,

Hongyu Xu,

Jichun Shi

et al.

Biomolecules, Journal Year: 2025, Volume and Issue: 15(2), P. 281 - 281

Published: Feb. 14, 2025

The inhibitor of growth (ING) family proteins is emerging as a pivotal regulator epigenetic modifications within the nervous system. These are involved in various cellular processes, including apoptosis, cell cycle control, and DNA repair, through interactions with chromatin-modifying complexes. Recent studies underscore dual role ING both tumor suppression neuronal differentiation, development, neuroprotection. This review summarizes functions neurobiology, focus on their involvement neural development relevance to neuro-oncological diseases. We explore mechanisms by which influence chromatin state gene expression, highlighting histone acetyltransferases, deacetylases, methyltransferases, modification enzymes, non-coding RNAs. A deeper understanding regulation system may pave way for novel therapeutic strategies targeting neurological disorders.

Language: Английский

Citations

0
Calcium Signaling and Molecular Adhesion Processes May Hold the Key to Genetic Risk for Autism: A Molecular Pathway Analysis on Two Independent Samples DOI Open Access
Antonio Drago, Marco Calabrò, Concetta Crisafulli

et al.

Genes, Journal Year: 2024, Volume and Issue: 15(12), P. 1609 - 1609

Published: Dec. 17, 2024

Background: Autism spectrum disorder (ASD) is a neurodevelopmental characterized by limited interests, difficulties in social interactions, repetitive behaviors, and impairments communication. ASD tends to run families, twin studies suggest strong genetic basis for the disorder. However, definition of profile that indicates risk remains unclear. Methods: This analysis includes an investigation (Autism Dataset 4 from NIMH repository, n = 2890) replication 3 1233) trio samples with GWAS data. In Phase 1, molecular pathway conducted on sample test enrichment specific Gene Ontology (GO) terms associated autism. 2, identified pathways are tested sample. Permutation tests performed reduce false-positive findings. Quality assessment using QQ-plots λ values, Plink R utilized Transmission Disequilibrium Test (TDT) permutation tests. Results: The GO term GO:0007417 was found be enriched both samples. SNPs this were observed at frequency higher than expected Conclusions: (development nervous system) autism Variations genes TMPRSS4, TRPC4, PCDH9 consistently linked across two independent samples, highlighting role calcium signaling cell adhesion molecules autism-related disorders. variations described detail, which can contribute engineering new pharmacological treatments ASD.

Language: Английский

Citations

0