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
- Bosch-Boonstra-Schaaf optic atrophy syndrome (BBSOAS) is a rare autosomal dominant neurodevelopmental disorder caused by pathogenic variants in the NR2F1 gene. The syndrome is characterized by a complex phenotype including optic nerve atrophy, global developmental delay, intellectual disability, and seizures. We report a patient with this syndrome whose prominent clinical presentation included developmental and epileptic encephalopathy (DEE). Due to overlapping clinical features with other neurodevelopmental disorders, clinical diagnosis remains challenging, necessitating molecular genetic studies. - Source: PubMed
Publication date: 2026/08/17
Babaei SinaHonarmand HaneiehBonyadi MortazaMaddahi BaharakEbadi ZakiyehBarzegar Mohammad - Cortical folding emerges during fetal development, is under genetic control, and remains stable throughout life, offering a lasting window into early neurodevelopment. Conventional morphometric descriptors, however, only partially capture the shape variability of cortical folds. We apply multivariate genome-wide association studies (GWAS) to 56 region-wise representations of cortical folds generated by Champollion, a self-supervised learning framework, in 35,940 UK Biobank (UKB) participants, identifying 567 independent genome-wide significant loci, versus 162 for classical sulcal morphometry, 87% of which were also detected by our approach. More than half of these associations replicate in the independent Adolescent Brain Cognitive Development (ABCD) cohort. Gene, gene-set, BrainSpan and single cell expression enrichment converge on a shared prenatal window of neurogenesis and morphogenesis, and spatial gene-association maps recapitulate known regional expression gradients, including for . Together, these results establish self-supervised representations of cortical folding as a powerful phenotype for the genetic study of neurodevelopment. - Source: PubMed
Publication date: 2026/07/24
Dufournet AntoineLaval JulienChavas JoëlFisher ClaraRivière DenisFrouin VincentMangin Jean-François - De novo variants in the ubiquitin-proteasome pathway are linked to autism spectrum disorder (ASD), yet their functional impact on neurodevelopment remains poorly understood. We investigated USP15, a deubiquitinating enzyme with rare damaging variants identified in individuals with ASD, using isogenic human iPSC-derived brain organoids and single-cell transcriptomics. USP15 mutant organoids showed genotype-dependent, progenitor-centered alterations during corticogenesis. Heterozygous organoids modeling haploinsufficiency displayed a shift toward later pseudotime states together with altered maturation and synaptic organization of deep-layer neurons. In contrast, homozygous organoids showed broader phenotypes, including mitotic suppression, aberrant HOX gene expression, and stress-response activation. Regulon analysis showed reduced activity of progenitor-associated regulons, including SOX2, NR2F1, and NR2F2, in heterozygous organoids, whereas homozygous organoids exhibited broader changes in transcriptional regulatory networks. Furthermore, USP15 mutant-associated gene expression patterns were significantly enriched for established ASD risk genes. Comparison with the mouse brain perturbation atlas showed that the transcriptional signature of the USP15 mutant showed notable overlap with those of Fezf2 and Foxp1 mutants, key regulators of deep-layer projection neuron identity. These findings characterize genotype-dependent neurodevelopmental phenotypes associated with reduced USP15 dosage and provide a human neural framework for investigating ASD-relevant developmental mechanisms in the context of a rare ubiquitin-pathway variant. - Source: PubMed
Publication date: 2026/07/29
Park Tae-HwanKoh In GyeongSung SeoyoungPark HayoonKim JieunLee SebinLee Yun JinKo HyunsooHan Jae HyunBong GuiyoungYoo Hee JeongKim JaesangAn Joon-YongLee Ji Yeoun - 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