Ask about this productRelated genes to: NR2F1 antibody
- Gene:
- NR2F1 NIH gene
- Name:
- nuclear receptor subfamily 2 group F member 1
- Previous symbol:
- ERBAL3, TFCOUP1
- Synonyms:
- EAR-3, COUP-TFI, TCFCOUP1, SVP44, COUPTF1
- Chromosome:
- 5q15
- Locus Type:
- gene with protein product
- Date approved:
- 1995-03-21
- Date modifiied:
- 2018-02-14
Related products to: NR2F1 antibody
Related articles to: NR2F1 antibody
- Hereditary optic atrophy is characterized by degeneration of retinal ganglion cells and may result from a wide range of genetic etiologies. While pathogenic variants in OPA1 and primary mitochondrial variants causing Leber hereditary optic neuropathy (LHON) account for a substantial proportion of cases, many patients remain genetically unsolved. We evaluated the diagnostic yield and clinical impact of comprehensive whole exome/genome sequencing (WES/WGS)-based virtual panel testing in 62 partially pre-screened individuals with suspected hereditary optic atrophy. A total of 51 genes associated with optic atrophy and mitochondrial DNA variants were analyzed. Clinical data were systematically retrieved from medical records, including information on extraocular manifestations. A genetic diagnosis was established in 21 patients (33.9%). Pathogenic or likely pathogenic variants in OPA1 accounted for 57.1% of solved cases, whereas 42.9% involved other genes, including WFS1, ACO2, NR2F1, UCHL1, CACNA1F, and COQ2. In the majority of patients with non-OPA1 findings, the genetic diagnosis prompted additional clinical evaluation, surveillance, or therapeutic intervention. Our findings demonstrate that broad WES/WGS-based testing increases diagnostic yield and expands the genetic spectrum beyond OPA1 and LHON, frequently revealing syndromic conditions with direct clinical implications. Comprehensive genomic testing with broader gene panels should therefore be considered part of the diagnostic workup when hereditary optic atrophy is suspected. - Source: PubMed
Publication date: 2026/06/27
Johannesen Katrine MGrønskov KarenKessel LineHolstein Sarah Linea vonMøller Lisbeth BirkAndersen Mette Kjøbæk GundestrupKhinchi Marianne SøndergaardHamann SteffenWegener MarianneBertelsen Mette - Glioblastoma multiforme (GBM) is the most aggressive primary brain malignancy with limited treatment options and poor clinical outcomes. There is growing interest in using Zika virus as a treatment for GBM due to its selectivity in finding and killing rapidly proliferating neural cells. Several studies reproducibly show that Zika can effectively kill GBM cells. We sought to uncover the molecular mechanisms driving this cytotoxic effect by performing a meta-analysis of transcriptomic studies in which Zika virus was used to kill GBM cells. We integrated four datasets from studies on GBM and added neuroblastoma (NBM) studies as an outgroup comparator. Our analysis identified a shared molecular signature of the Zika-infected GBM cell. Interestingly, GBM cells killed by the Zika virus showed dysregulation of pathways commonly implicated in proliferation and metastasis, including TNF, NF-κB, and p53 signaling. Using a hypothesis-free design, we found several long non-coding RNAs (lncRNAs) that were consistently dysregulated in Zika-infected GBMs, many of which have previously unrecognized roles in cancer cell death. Among this group, we validated four lncRNAs for a role in Zika-mediated oncolysis. We functionally tested , , , and in adult GBM cell lines using siRNA-mediated knockdown. Silencing of augmented Zika-induced cell death, while knockdown of , , and attenuated oncolysis, identifying lncRNAs whose modulation is associated with altered Zika-mediated cytotoxicity. These findings elucidate candidate mechanisms of Zika oncolysis in GBM cell lines, highlight novel lncRNA targets, and support further exploration of lncRNA modulation as a strategy to enhance oncolytic virotherapy for GBM and related malignancies. - Source: PubMed
Publication date: 2026/06/15
Singh ShriyaGerlein MartinHorvath Allison RHenderson LisaHwang Eugene IPacker Roger JShao ChunboKousa Youssef AMansour Tamer A - To characterize outpatient pediatric hereditary optic neuropathies in the United Arab Emirates. - Source: PubMed
Publication date: 2026/06/16
Khan Arif O - Prenatal exposure to valproic acid (VPA), a widely prescribed antiepileptic and mood‑stabilizing drug, is a well-established environmental risk factor for autism spectrum disorder (ASD). Although behavioral and anatomical abnormalities have been reported in VPA-exposed animal models, the underlying molecular mechanisms within specific brain regions remain unclear. In this study, we used tandem mass tag (TMT)-based quantitative proteomics to profile protein expression in the striatum of 9-10-week-old mice prenatally exposed to VPA. Behavioral assessment confirmed core ASD-like phenotypes, including reduced body and brain weights and increased repetitive self-grooming behavior. Proteomic profiling identified 101 differentially expressed proteins (DEPs), with 47 upregulated and 54 downregulated in VPA-exposed mice. Functional enrichment analysis revealed significant involvement of pathways related to synaptic transmission, neuronal development, metal ion homeostasis, oxidative stress response, and excitation/inhibition (E/I) balance. Notably, proteins such as parvalbumin (PVALB), NR2F1, and metallothioneins (MT1, MT2, MT3) were markedly downregulated, implicating impaired inhibitory signaling and redox regulation. Importantly, quantitative PVALB immunofluorescence analysis provided histological validation of the proteomic findings, revealing a significant reduction of PVALB immunoreactivity in the dorsolateral striatum, with a non-significant trend toward reduction in the dorsomedial striatum. Additionally, protein-protein interaction network analysis identified PVALB and MT2 as central hub proteins linking synaptic, glial, and oxidative stress-related modules, highlighting disrupted striatal network organization. Collectively, these findings provide subregion-specific molecular and histological insight into how prenatal VPA exposure alters striatal neurobiology and contributes to ASD-like behavioral phenotypes. Proteomic data are available via ProteomeXchange (PXD067574). - Source: PubMed
Publication date: 2026/05/27
Jo Eun HwaChoi YunjungKim Han-ByeolWoo Ran-SookHan DohyunKim Won-CheolPark Seong JuneKang MinaChoi YooriKang Keon WookKim Hye-Sun - Large interstitial deletions spanning chromosome 5q14.3 to q21.1 and encompassing are rare. Existing descriptions have largely focused on structural features and presenting manifestations, with fewer reports examining functional neurodevelopmental outcomes over time, particularly in individuals with large interstitial deletions. Here, we present a 16-year longitudinal analysis of an individual with a 13.58 Mb interstitial deletion of 5q14.3 to q21.1 encompassing (ClinVar accession SCV007328941), consistent with NR2F1-related neurodevelopmental disorder, historically described under OMIM:615722 (Bosch-Boonstra-Schaaf optic atrophy syndrome). We integrate longitudinal clinical, visual, neurological, and developmental data to examine relationships between optic nerve findings, periventricular heterotopia (PH; OMIM:612881, chromosome 5q14.3 deletion syndrome), cerebral visual impairment (CVI), epilepsy, hypotonia, and long-term functional outcomes. The index case manifested PH and severe CVI from infancy, with profound hypotonia associated oromotor and airway dysfunction. Epilepsy first manifested during adolescence. Longitudinal in-depth analysis suggests that CVI may represent a key mediating factor underlying cognitive, behavioral, and communicative difficulties. Substantial latent cognitive capacity was revealed once visual complexity was reduced and environments appropriately adapted. Analysis of published cases indicates that PH is an uncommon but recurrent feature of haploinsufficiency and suggests that optic atrophy can be secondary to cerebral visual pathway dysfunction. This case highlights that longitudinal functional assessment can enhance genotype-phenotype interpretation in rare genomic disorders and provide clinically actionable insights for diagnosis, management, and outcome prediction. - Source: PubMed
Publication date: 2026/05/07
St Clair Tracy HelenDutton Gordon NHall Hildegard NikkiBlaikie Andrew