Ask about this productRelated genes to: KIAA0319 Blocking Peptide
- Gene:
- KIAA0319 NIH gene
- Name:
- KIAA0319
- Previous symbol:
- -
- Synonyms:
- NMIG
- Chromosome:
- 6p22.3
- Locus Type:
- gene with protein product
- Date approved:
- 2003-11-21
- Date modifiied:
- 2018-02-19
Related products to: KIAA0319 Blocking Peptide
Related articles to: KIAA0319 Blocking Peptide
- How can the effectiveness of exome sequencing be improved for diagnosing infertility, and what are the key challenges and lessons learned from analysing nine unrelated cases? - Source: PubMed
Publication date: 2025/10/24
Broojeni Jalal VElmahdy MohamedMitchell SachaRezaei MaryamSaharan AnkurElhady GhadaSafwat SylviaBareke EricAbdelrazek IbrahimXu ChengpengLi LeiBuckett WilliamAo AsanglaMiron PierreMajewski JacekAbdalla EbtesamSlim Rima - : Parkinson's disease (PD) is an adult-onset neurodegenerative disorder whose pathogenesis is still not completely understood. Several lines of evidence suggest that alterations in epigenetic architecture may contribute to the development of this condition. Here, we present a pilot DNA methylation study from peripheral blood in a cohort of Sicilian PD patients and matched controls. Peripheral tissue analysis has previously been shown to reflect molecular and functional profiles relevant to neurological diseases, supporting their validity as a proxy for studying brain-related epigenetic mechanisms. : We analyzed 20 PD patients and 20 healthy controls (19 males and 21 females overall), matched for sex, with an age range of 60-87 years (mean 72.3 years). Peripheral blood DNA was extracted and processed using the Illumina Infinium MethylationEPIC v2.0 BeadChip, which interrogates over 935,000 CpG sites across the genome, including promoters, enhancers, CpG islands, and other regulatory elements. The assay relies on sodium bisulfite conversion of DNA to detect methylation status at single-base resolution. : Epigenome-wide association study (EWAS) data allowed for multiple levels of analysis, including immune cell-type deconvolution, estimation of biological age (epigenetic clocks), quantification of stochastic epigenetic mutations (SEMs) as a measure of epigenomic stability, and differential methylation profiling. Immune cell-type inference revealed an increased but not significant proportion of monocytes in PD patients, consistent with previous reports. In contrast, epigenetic clock analysis did not reveal significant differences in biological age acceleration between cases and controls, partially at odds with earlier studies-likely due to the limited sample size. SEMs burden did not differ significantly between groups. Epivariations reveal genes involved in pathways known to be altered in dopaminergic neuron dysfunction and α-synuclein toxicity. Differential methylation analysis, however, yielded 167 CpG sites, of which 55 were located within genes, corresponding to 54 unique loci. Gene Ontology enrichment analysis highlighted significant overrepresentation of pathways with neurological relevance, including regulation of synapse structure and activity, axonogenesis, neuron migration, and synapse organization. Notably, alterations in , a gene involved in neuronal migration, synaptic formation, and cortical development, have previously been associated with Parkinson's disease at the gene expression level, while methylation changes in have been reported in neurotoxic and cognitive contexts; our data suggest, for the first time, a potential epigenetic involvement of both genes in Parkinson's disease. : This pilot study on a Sicilian population provides further evidence that DNA methylation profiling can yield valuable molecular insights into PD. Despite the small sample size, our results confirm previously reported findings and highlight biological pathways relevant to neuronal structure and function that may contribute to disease pathogenesis. These data support the potential of epigenetic profiling of peripheral blood as a tool to advance the understanding of PD and generate hypotheses for future large-scale studies. - Source: PubMed
Publication date: 2025/12/25
Salluzzo Maria GraziaFerraresi FrancescaMarcolungo LucaPirazzini ChiaraKwiatkowska Katarzyna MalgorzataDall'Olio DanieleCastellani GastoneSala ClaudiaZago ElisaGentilini DavideSchillaci Francesca ASalemi MicheleLanza GiuseppeFerri RaffaeleGaragnani Paolo - Developmental language disorders (DLDs) are common neurodevelopmental conditions, affecting approximately 7-10% of children, with significant impacts on communication, academic achievement, and social integration. While genetic factors are known contributors, the underlying genomic architecture and biological pathways remain incompletely understood. This analysis explores key genomic biomarkers of DLD and investigates their functional interactions. - Source: PubMed
Adnan Hassan RafalAl-Fatlawi Ali - Dyslexia is a common learning disorder characterized by difficulty processing written language despite normal intelligence and adequate educational resources. KIAA0319 is one of nine genes reproducibly associated with reading performance, but the molecular basis of its function remains unclear. - Source: PubMed
Publication date: 2025/10/18
Scandura Michael JChoe Mu SeogKiral Ferdi RidvanLo CynthiaKim JonghunYang Woo SubQiu CaihongMa YinghongGruen Jeffrey RPark In-Hyun - Genome-wide studies have identified multiple risk genes for Alzheimer's disease (AD), yet the causal protein interactions and pathways driving AD pathogenesis remain unclear. - Source: PubMed
Publication date: 2025/09/29
Wen PengHan ChongZhao HongxinYao ShengtaoChen Huan