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Page 1
EBF3 Neurodevelopmental Disorder.
Narayanan DL, Kutsche K, Girisha KM. Narayanan DL, et al. 2021 May 6. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2021 May 6. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 33956416 Free Books & Documents. Review.
CLINICAL CHARACTERISTICS: EBF3 neurodevelopmental disorder (EBF3-NDD) is associated with developmental delay (DD) / intellectual disability (ID), speech delay, gait or truncal ataxia, hypotonia, behavioral problems, and facial dysmorphism. ...To date, 42 symptomatic …
CLINICAL CHARACTERISTICS: EBF3 neurodevelopmental disorder (EBF3-NDD) is associated with developmental delay (DD) / intellectu …
Ebf3(+) niche-derived CXCL12 is required for the localization and maintenance of hematopoietic stem cells.
Nakatani T, Sugiyama T, Omatsu Y, Watanabe H, Kondoh G, Nagasawa T. Nakatani T, et al. Nat Commun. 2023 Oct 25;14(1):6402. doi: 10.1038/s41467-023-42047-2. Nat Commun. 2023. PMID: 37880234 Free PMC article.
In mice whose CXCL12 is deleted from all Ebf3(+)/leptin receptor (LepR)(+) CAR cells, HSCs are markedly reduced and their ability to generate B cell progenitors is reduced compared with that to generate myeloid progenitors even when transplanted into wild-type mice. ...
In mice whose CXCL12 is deleted from all Ebf3(+)/leptin receptor (LepR)(+) CAR cells, HSCs are markedly reduced and their ability to …
Neurologic, Neuropsychologic, and Neuroradiologic Features of EBF3-Related Syndrome.
Ciaccio C, Pantaleoni C, Moscatelli M, Chiapparini L, Nigro V, Valente EM, Sciacca F, Canafoglia L, Bulgheroni S, D'Arrigo S. Ciaccio C, et al. Neurol Genet. 2023 Jan 23;9(2):e200049. doi: 10.1212/NXG.0000000000200049. eCollection 2023 Apr. Neurol Genet. 2023. PMID: 37090941 Free PMC article.
Despite the predominant neurologic involvement of EBF3-related syndrome, a systematic definition of neurologic, cognitive/behavioral, and neuroradiologic features is lacking. ...We therefore propose that EBF3-related syndrome should be classified and treated as a co …
Despite the predominant neurologic involvement of EBF3-related syndrome, a systematic definition of neurologic, cognitive/behavioral, …
EBF3 reactivation by inhibiting the EGR1/EZH2/HDAC9 complex promotes metastasis via transcriptionally enhancing vimentin in nasopharyngeal carcinoma.
Ding S, Wang X, Lv D, Tao Y, Liu S, Chen C, Huang Z, Zheng S, Wei Y, Kang T, Xia Y. Ding S, et al. Cancer Lett. 2022 Feb 28;527:49-65. doi: 10.1016/j.canlet.2021.12.010. Epub 2021 Dec 11. Cancer Lett. 2022. PMID: 34906623 Free article.
In addition, EBF3 was epigenetically silenced by EGR1/EZH2/HDAC9 complexes via sustaining the high level of H3K27-Me3 at its promoter. Clinically, there was a positive correlation between EBF3 and Vimentin in nasopharyngeal carcinoma tissues. Moreover, high expressi …
In addition, EBF3 was epigenetically silenced by EGR1/EZH2/HDAC9 complexes via sustaining the high level of H3K27-Me3 at its promoter …
Abnormal cerebellar foliation in EBF3 mutation.
D'Arrigo S, Moscatelli M, Ciaccio C, Pantaleoni C, Castello R, Chiapparini L; TUDP Study Group. D'Arrigo S, et al. Neurology. 2020 May 26;94(21):933-935. doi: 10.1212/WNL.0000000000009486. Epub 2020 May 4. Neurology. 2020. PMID: 32366537 No abstract available.
Further delineation of EBF3-related syndromic neurodevelopmental disorder in twelve Chinese patients.
Zhu J, Li W, Yu S, Lu W, Xu Q, Wang S, Qian Y, Guo Q, Xu S, Wang Y, Zhang P, Zhao X, Ni Q, Liu R, Li X, Wu B, Zhou S, Wang H. Zhu J, et al. Front Pediatr. 2023 Mar 3;11:1091532. doi: 10.3389/fped.2023.1091532. eCollection 2023. Front Pediatr. 2023. PMID: 36937983 Free PMC article.
In this study, we report twelve unrelated individuals with EBF3 variants using next-generation sequencing. Five missense variants (four novel variants and one known variant) and seven copy number variations (CNVs) of EBF3 gene were identified. ...Our study further e …
In this study, we report twelve unrelated individuals with EBF3 variants using next-generation sequencing. Five missense variants (fo …
Ebf3-miR218 regulation is involved in the development of dopaminergic neurons.
Baek S, Choi H, Kim J. Baek S, et al. Brain Res. 2014 Oct 31;1587:23-32. doi: 10.1016/j.brainres.2014.08.059. Epub 2014 Sep 1. Brain Res. 2014. PMID: 25192643
We found a specific upregulation of Ebf3 in Dicer knockout midbrain DA neurons and dynamic patterns of Ebf3 expression during the development of DA neurons. ...Additionally, we found that Ebf3 is a candidate target for miR218 during DA neuronal development, s …
We found a specific upregulation of Ebf3 in Dicer knockout midbrain DA neurons and dynamic patterns of Ebf3 expression during …
Long non-coding RNAs: From disease code to drug role.
Chen Y, Li Z, Chen X, Zhang S. Chen Y, et al. Acta Pharm Sin B. 2021 Feb;11(2):340-354. doi: 10.1016/j.apsb.2020.10.001. Epub 2020 Oct 10. Acta Pharm Sin B. 2021. PMID: 33643816 Free PMC article. Review.
Transient and lineage-restricted requirement of Ebf3 for sternum ossification.
Kuriki M, Sato F, Arai HN, Sogabe M, Kaneko M, Kiyonari H, Kawakami K, Yoshimoto Y, Shukunami C, Sehara-Fujisawa A. Kuriki M, et al. Development. 2020 May 12;147(9):dev186239. doi: 10.1242/dev.186239. Development. 2020. PMID: 32398354 Free PMC article.
Knockout of Ebf3 in mice had no effect on chondrogenesis but led to sternum ossification defects as a result of defective generation of Runx2(+) pre-osteoblasts. Conditional and temporal Ebf3 knockout mice revealed requirements of Ebf3 in the lateral plate me …
Knockout of Ebf3 in mice had no effect on chondrogenesis but led to sternum ossification defects as a result of defective generation …
Circadian clock protein Bmal1 accelerates acute myeloid leukemia by inhibiting ferroptosis through the EBF3/ALOX15 axis.
Wang D, Wang F, Zhang H, Chen P, Yang M. Wang D, et al. Cancer Sci. 2023 Aug;114(8):3446-3460. doi: 10.1111/cas.15875. Epub 2023 Jun 4. Cancer Sci. 2023. PMID: 37271497 Free PMC article.
Bmal1 recruited Enhancer of zeste homolog 2 (EZH2) to the Early B cell factor 3 (EBF3) promoter and enhanced its methylation, thus suppressing EBF3 expression. Moreover, the knockdown of Bmal1 sensitized AML cells to RSL3-induced ferroptosis, and it was counteracted …
Bmal1 recruited Enhancer of zeste homolog 2 (EZH2) to the Early B cell factor 3 (EBF3) promoter and enhanced its methylation, thus su …
132 results