| Early B Cell Factor 3 (EBF3) attenuates Parkinson's disease through directly regulating contactin-associated protein-like 4 (CNTNAP4) transcription: An experimental study. | Early B Cell Factor 3 (EBF3) attenuates Parkinson's disease through directly regulating contactin-associated protein-like 4 (CNTNAP4) transcription: An experimental study.
Hu W, Wang M, Sun G, Zhang L, Lu H. | 04/12/2024 |
| An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain. | An Integrated Phenotypic and Genotypic Approach Reveals a High-Risk Subtype Association for EBF3 Missense Variants Affecting the Zinc Finger Domain.
Deisseroth CA, Lerma VC, Magyar CL, Pfliger JM, Nayak A, Bliss ND, LeMaire AW, Narayanan V, Balak C, Zanni G, Valente EM, Bertini E, Benke PJ, Wangler MF, Chao HT. | 06/25/2022 |
| Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype. | Duplication/triplication mosaicism of EBF3 and expansion of the EBF3 neurodevelopmental disorder phenotype.
Ignatius E, Puosi R, Palomäki M, Forsbom N, Pohjanpelto M, Alitalo T, Anttonen AK, Avela K, Haataja L, Carroll CJ, Lönnqvist T, Isohanni P. | 04/16/2022 |
| Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism. | Coding and noncoding variants in EBF3 are involved in HADDS and simplex autism.
Padhi EM, Hayeck TJ, Cheng Z, Chatterjee S, Mannion BJ, Byrska-Bishop M, Willems M, Pinson L, Redon S, Benech C, Uguen K, Audebert-Bellanger S, Le Marechal C, Férec C, Efthymiou S, Rahman F, Maqbool S, Maroofian R, Houlden H, Musunuri R, Narzisi G, Abhyankar A, Hunter RD, Akiyama J, Fries LE, Ng JK, Mehinovic E, Stong N, Allen AS, Dickel DE, Bernier RA, Gorkin DU, Pennacchio LA, Zody MC, Turner TN., Free PMC Article | 02/5/2022 |
| Clinical spectrum of individuals with de novo EBF3 variants or deletions. | Clinical spectrum of individuals with de novo EBF3 variants or deletions.
Nishi E, Uehara T, Yanagi K, Hasegawa Y, Ueda K, Kaname T, Yamamoto T, Kosaki K, Okamoto N. | 01/22/2022 |
| Findings suggest characteristic DNA methylation changes in EBF3 is relatively common tumor-associated epigenetic events in multiple tumor types, which is consistent with a potential role as more general drivers of tumor progression. | Characterisation of DNA methylation changes in EBF3 and TBC1D16 associated with tumour progression and metastasis in multiple cancer types.
Rodger EJ, Chatterjee A, Stockwell PA, Eccles MR., Free PMC Article | 06/27/2020 |
| Loss of EBF3 expression is associated with Hereditary Melanoma. | Rare Variant, Gene-Based Association Study of Hereditary Melanoma Using Whole-Exome Sequencing.
Artomov M, Stratigos AJ, Kim I, Kumar R, Lauss M, Reddy BY, Miao B, Daniela Robles-Espinoza C, Sankar A, Njauw CN, Shannon K, Gragoudas ES, Marie Lane A, Iyer V, Newton-Bishop JA, Timothy Bishop D, Holland EA, Mann GJ, Singh T, Daly MJ, Tsao H., Free PMC Article | 02/16/2019 |
| Data show that early B-cell factor 3 (EBF3) was identified as the direct downstream target gene of miR-23b-3p. | MiR-23b-3p induces the proliferation and metastasis of esophageal squamous cell carcinomas cells through the inhibition of EBF3.
Zhang J, Zhang Y, Tan X, Zhang Q, Liu C, Zhang Y. | 10/13/2018 |
| Associations of Pulmonary Fibrosis with Peripheral Blood Th1/Th2 Cell Imbalance and EBF3 Gene Methylation in Uygur Pigeon Breeder's Lung Patients. | Associations of Pulmonary Fibrosis with Peripheral Blood Th1/Th2 Cell Imbalance and EBF3 Gene Methylation in Uygur Pigeon Breeder's Lung Patients.
Wu C, Luo Z, Pang B, Wang W, Deng M, Jin R, Muhataer X, Li Y, Li Q, Yang X. | 08/18/2018 |
| Results found that hypermethylation of the EBF3 promoter was associated with increased EBF3 mRNA levels in metastatic melanomas and subsequent inhibition of DNA methylation reduced EBF3 expression, suggesting that EBF3 promoter hypermethylation may be a candidate epigenetic driver of metastasis. | Genome-wide methylation sequencing of paired primary and metastatic cell lines identifies common DNA methylation changes and a role for EBF3 as a candidate epigenetic driver of melanoma metastasis.
Chatterjee A, Stockwell PA, Ahn A, Rodger EJ, Leichter AL, Eccles MR., Free PMC Article | 02/24/2018 |
| In 11 affected individuals from 11 unrelated families, we identified de novo variants in EBF3 as potentially causative for the neurodevelopmental phenotype. The variants include one nonsense, two frameshift deletions, one splice, and three missense variants. There are three de novo missense variants, (p.(Lys64Thr), p.(His157Gln), and p.(Arg209Gln), which are all in the COE1 DNA-binding domain. | De novo variants in EBF3 are associated with hypotonia, developmental delay, intellectual disability, and autism.
Tanaka AJ, Cho MT, Willaert R, Retterer K, Zarate YA, Bosanko K, Stefans V, Oishi K, Williamson A, Wilson GN, Basinger A, Barbaro-Dieber T, Ortega L, Sorrentino S, Gabriel MK, Anderson IJ, Sacoto MJG, Schnur RE, Chung WK., Free PMC Article | 01/6/2018 |
| findings demonstrate that variants disrupting EBF3-mediated transcriptional regulation cause intellectual disability and developmental delay and are present in approximately 0.1% of individuals with unexplained neurodevelopmental disorders | Mutations in EBF3 Disturb Transcriptional Profiles and Cause Intellectual Disability, Ataxia, and Facial Dysmorphism.
Harms FL, Girisha KM, Hardigan AA, Kortüm F, Shukla A, Alawi M, Dalal A, Brady L, Tarnopolsky M, Bird LM, Ceulemans S, Bebin M, Bowling KM, Hiatt SM, Lose EJ, Primiano M, Chung WK, Juusola J, Akdemir ZC, Bainbridge M, Charng WL, Drummond-Borg M, Eldomery MK, El-Hattab AW, Saleh MAM, Bézieau S, Cogné B, Isidor B, Küry S, Lupski JR, Myers RM, Cooper GM, Kutsche K., Free PMC Article | 05/27/2017 |
| findings indicate that mutations in EBF3 cause a genetic neurodevelopmental syndrome and suggest that loss of EBF3 function might mediate a subset of neurologic phenotypes shared by ARX-related disorders, including intellectual disability, abnormal genitalia, and structural CNS malformations | A Syndromic Neurodevelopmental Disorder Caused by De Novo Variants in EBF3.
Chao HT, Davids M, Burke E, Pappas JG, Rosenfeld JA, McCarty AJ, Davis T, Wolfe L, Toro C, Tifft C, Xia F, Stong N, Johnson TK, Warr CG, Undiagnosed Diseases Network, Yamamoto S, Adams DR, Markello TC, Gahl WA, Bellen HJ, Wangler MF, Malicdan MCV., Free PMC Article | 05/27/2017 |
| EBF3, a transcription factor previously unknown to be associated with human disease, is important for brain and other organ development and warrants further investigation | De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome.
Sleven H, Welsh SJ, Yu J, Churchill MEA, Wright CF, Henderson A, Horvath R, Rankin J, Vogt J, Magee A, McConnell V, Green A, King MD, Cox H, Armstrong L, Lehman A, Nelson TN, Deciphering Developmental Disorders study, CAUSES study, Williams J, Clouston P, Hagman J, Németh AH., Free PMC Article | 05/27/2017 |
| Early B-cell factor 3 (EBF3) is a novel tumor suppressor gene with promoter hypermethylation in pediatric acute myeloid leukemia | Early B-cell factor 3 (EBF3) is a novel tumor suppressor gene with promoter hypermethylation in pediatric acute myeloid leukemia.
Tao YF, Xu LX, Lu J, Hu SY, Fang F, Cao L, Xiao PF, Du XJ, Sun LC, Li ZH, Wang NN, Su GH, Li YH, Li G, Zhao H, Li YP, Xu YY, Zhou HT, Wu Y, Jin MF, Liu L, Zhu XM, Ni J, Wang J, Xing F, Zhao WL, Pan J., Free PMC Article | 03/12/2016 |
| EBF3 tumor suppressor is epigenetically silenced and that it serves as an independent prognostic marker in gastric carcinoma. | Aberrant DNA methylation and tumor suppressive activity of the EBF3 gene in gastric carcinoma.
Kim J, Min SY, Lee HE, Kim WH. | 03/3/2012 |
| Results verify IRX1, EBF3, SLC5A8, SEPT9, and FUSSEL18 as valid methylation markers in two separate sets of HNSCC specimens; also preliminarily show a trend between HPV16 positivity and target gene hypermethylation of IRX1, EBF3, SLC5A8, and SEPT9. | HPV status-independent association of alcohol and tobacco exposure or prior radiation therapy with promoter methylation of FUSSEL18, EBF3, IRX1, and SEPT9, but not SLC5A8, in head and neck squamous cell carcinomas.
Bennett KL, Lee W, Lamarre E, Zhang X, Seth R, Scharpf J, Hunt J, Eng C. | 05/31/2010 |
| Findings suggested that the transfection of EBF3 gene into HepG2 induced the cell proliferation from G1 phase to G2 phase by increasing the number of cells. | [Construction of eukaryotic expression vector for EBF3 and EGFP fusion protein and its expression in HepG2 cells].
Mao LP, Wang HM, Wang YG, Wang XY. | 04/12/2010 |
| Frequent methylation of EBF3 gene is associated with head and neck squamous cell carcinoma | Frequently methylated tumor suppressor genes in head and neck squamous cell carcinoma.
Bennett KL, Karpenko M, Lin MT, Claus R, Arab K, Dyckhoff G, Plinkert P, Herpel E, Smiraglia D, Plass C. | 01/21/2010 |
| Expression of EBF3 resulted in cell cycle arrest and apoptosis. EBF3 regulates a transcriptional program underlying a putative tumor suppression pathway. | An EBF3-mediated transcriptional program that induces cell cycle arrest and apoptosis.
Zhao LY, Niu Y, Santiago A, Liu J, Albert SH, Robertson KD, Liao D. | 01/21/2010 |