Ask about this productRelated genes to: NEIL2 antibody
- Gene:
- NEIL2 NIH gene
- Name:
- nei like DNA glycosylase 2
- Previous symbol:
- -
- Synonyms:
- NEH2, FLJ31644, MGC2832, MGC4505
- Chromosome:
- 8p23.1
- Locus Type:
- gene with protein product
- Date approved:
- 2002-07-25
- Date modifiied:
- 2016-01-18
Related products to: NEIL2 antibody
Related articles to: NEIL2 antibody
- Congenital diaphragmatic hernia (CDH) is a developmental anomaly associated with high mortality and morbidity, primarily attributed to accompanying pulmonary hypoplasia. Genetic factors are crucial in the etiology and pathogenesis of CDH, with various copy number variations (CNVs) and gene sequence variants implicated in this malformation. Previous studies have underscored the importance of retinoic acid (RA) signaling pathways and related genes. Nonetheless, the complexity of diaphragmatic development involving cell migration, cytoskeleton organization, and myogenesis suggests that candidate CDH genes extend beyond the RA pathway. To explore novel candidate gene variants and their roles in CDH, we performed whole exome sequencing (WES) in CDH-affected fetuses. - Source: PubMed
Somayyeh Heidargholizadeh GTurgut Gozde TutkuAltunoglu UmutSivrikoz Tugba SaracUyguner Zehra OyaBasaran SeherKaraman BirsenGulec Cagri - Parkinson's disease (PD) is a progressive neurodegenerative disorder. DNA repair dysfunction and integrated stress response (ISR) dysregulation have been implicated in PD pathophysiology, however, their role during the prodromal phase remains unclear. We analyzed longitudinal blood transcriptomic data from the Parkinson's Progression Markers Initiative to assess DNA repair and ISR genes in healthy individuals, prodromal PD, and those with established PD. Logistic regression classifiers showed that DNA repair and ISR expression distinguished prodromal PD from healthy individuals, with accuracy peaking in later prodromal stages. In contrast, these pathways did not separate established PD from controls, suggesting a more prominent role early in progression. Gene expression variability in prodromal PD was high at baseline but decreased over time, indicating convergence as disease advances. Notably, 50% of DNA repair genes and 74% of ISR genes showed non-linear patterns, suggesting a transient adaptive response fading with progression. Feature importance analysis highlighted several predictors of prodromal PD, including ERCC6, PRIMPOL, NEIL2, and NTHL1. These findings indicate that DNA repair and ISR dysregulation are relevant in prodromal PD and may be biomarkers for early detection and intervention. Future research should validate these results in larger cohorts and evaluate diagnostic and therapeutic potential. - Source: PubMed
Publication date: 2025/12/05
Anwer DanishMontaldo Nicola PietroNovoa-Del-Toro Elva MariaDomanska DianaNilsen Hilde LogePolster Annikka - Opioid dependence (OD) is epidemic in the United States and it is associated with a variety of adverse health effects. Its estimated heritability is ~50% in twin studies, and recent genome-wide association studies have identified more than a dozen common risk variants. However, there are no published studies of rare OD risk variants. In this study, we analyzed whole-exome sequencing data from the Yale-Penn cohort, comprising 2100 participants of European ancestry (EUR; 1321 OD cases) and 1790 of African ancestry (AFR; 864 cases). A novel low-frequency variant (rs746301110) in the RUVBL2 gene was identified in EUR (p = 6.59 × 10). Suggestive associations (p < 1 × 10; not passing the Bonferroni correction) were observed in TMCO3 in EUR, in NEIL2 and CFAP44 in AFR, and in FAM210B in the cross-ancestry meta-analysis. Gene-based collapsing tests identified SLC22A10, TMCO3, FAM90A1, DHX58, CHRND, GLDN, PLAT, H1-4, COL3A1, GPHB5 and QPCTL as top genes (p < 1 × 10) with most associations attributable to rare variants and driven by the burden of predicted loss-of-function and missense variants. This study begins to fill the gap in our understanding of the genetic architecture of OD, providing insights into the contribution of rare coding variants and potential targets for future functional studies and drug development. - Source: PubMed
Publication date: 2025/10/06
Wang LuNuñez Yaira ZMartínez-Magaña José JaimeRivera-Hernandez MelodyMao ZhongzhengBrennand Kristen JMontalvo-Ortiz Janitza LKranzler Henry RGelernter JoelZhou Hang - Women with bipolar disorder (BIP) have a higher risk of developing polycystic ovary syndrome (PCOS). Shared genetic architecture may underlie this comorbidity. Valproate, a mood-stabilizer commonly used to treat BIP, increases the risk of PCOS. Still, the mechanism underlying PCOS in BIP remains unknown. Here, we aimed to identify genetic variants shared between BIP and PCOS, as well as their interaction with valproate. We used the results of large-scale genome-wide association studies of BIP (41,510 cases and 354,340 controls), and PCOS (3,609 cases and 229,788 controls). Using conditional false discovery rate, we discovered genetic variants jointly associated with BIP and PCOS. Gene mapping of identified variants was performed using the Open Targets platforms. We analyzed the tissue-specific expression, interaction with valproate, and involvement in biological pathways of the mapped genes. We identified two loci shared between BIP and PCOS. Among the 10 genes mapped to the locus on chromosome 8:11455262, , and showed expression profiles suggesting their role in the observed comorbidity. Mapped to the locus on chromosome 12:2499849, , and are expressed in both the ovaries and the brain. expression is affected by valproate, and plays a role in biological pathways involving other valproate-affected genes. We identified shared genetic underpinnings of BIP and PCOS, and implicated genes which may explain the biological mechanisms of the comorbidity between these disorders and a potential mechanism for the role of valproate. - Source: PubMed
Publication date: 2025/09/23
Jaholkowski PiotrTesfaye MarkosFominykh VeraParekh PraveshWiström Erik DParker NadineKoch EliseBauer Anna ETrzaskoma PawelRokicki JaroslavBahrami ShahramRahman ZillurFrei OleksandrDjurovic SrdjanDale Anders MShadrin Alexey AO'Connell Kevin SAndreassen Ole A - Nei Like DNA Glycosylase 2 (NEIL2) is strongly associated with the risk of Cervical cancer (CC), but the mechanism is not yet clear. Therefore, the aim of this study was to explore the potential mechanisms of NEIL2 as a novel prognostic biomarker for CC patients. - Source: PubMed
Publication date: 2025/07/01
Li YanDu JiayuanWei LingjiaTan TianmengBao LiyiSu JinqiuWang He