| Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis. | Loss-of-function variants in ERF are associated with a Noonan syndrome-like phenotype with or without craniosynostosis.
Dentici ML, Niceta M, Lepri FR, Mancini C, Priolo M, Bonnard AA, Cappelletti C, Leoni C, Ciolfi A, Pizzi S, Cordeddu V, Rossi C, Ferilli M, Mucciolo M, Colona VL, Fauth C, Bellini M, Biasucci G, Sinibaldi L, Briuglia S, Gazzin A, Carli D, Memo L, Trevisson E, Schiavariello C, Luca M, Novelli A, Michot C, Sweertvaegher A, Germanaud D, Scarano E, De Luca A, Zampino G, Zenker M, Mussa A, Dallapiccola B, Cavé H, Digilio MC, Tartaglia M., | 09/10/2024 |
| Activation of gamma-globin expression by LncRNA-mediated ERF promoter hypermethylation in beta-thalassemia. | Activation of γ-globin expression by LncRNA-mediated ERF promoter hypermethylation in β-thalassemia.
Bao X, Gao Y, Wang Z, Ye Y, Chen D, Zuo Y, Zhao C, Xu X., Free PMC Article | 01/17/2024 |
| The CIC-ERF co-deletion underlies fusion-independent activation of ETS family member, ETV1, to drive prostate cancer progression. | The CIC-ERF co-deletion underlies fusion-independent activation of ETS family member, ETV1, to drive prostate cancer progression.
Gupta N, Song H, Wu W, Ponce RK, Lin YK, Kim JW, Small EJ, Feng FY, Huang FW, Okimoto RA., Free PMC Article | 11/26/2022 |
| Cognitive, Behavioural, Speech, Language and Developmental Outcomes Associated with Pathogenic Variants in the ERF Gene. | Cognitive, Behavioural, Speech, Language and Developmental Outcomes Associated with Pathogenic Variants in the ERF Gene.
Care H, Luscombe C, Wall SA, Dalton L, Johnson D, Wilkie AOM. | 09/10/2022 |
| Dissection of contiguous gene effects for deletions around ERF on chromosome 19. | Dissection of contiguous gene effects for deletions around ERF on chromosome 19.
Calpena E, McGowan SJ, Blanco Kelly F, Boudry-Labis E, Dieux-Coeslier A, Harrison R, Johnson D, Lachlan K, Morton JEV, Stewart H, Vasudevan P, Genomics England Research Consortium, Twigg SRF, Wilkie AOM. | 04/9/2022 |
| Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay. | Deletion of ERF and CIC causes abnormal skull morphology and global developmental delay.
Singh R, Cohen ASA, Poulton C, Hjortshøj TD, Akahira-Azuma M, Mendiratta G, Khan WA, Azmanov DN, Woodward KJ, Kirchhoff M, Shi L, Edelmann L, Baynam G, Scott SA, Jabs EW., Free PMC Article | 12/18/2021 |
| Identification and analysis of micro-exons in AP2/ERF and MADS gene families. | Identification and analysis of micro-exons in AP2/ERF and MADS gene families.
Song Q, Bari A, Li H, Chen LL., Free PMC Article | 12/4/2021 |
| Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals. | Variable pulmonary manifestations in Chitayat syndrome: Six additional affected individuals.
Suter AA, Santos-Simarro F, Toerring PM, Abad Perez A, Ramos-Mejia R, Heath KE, Huckstadt V, Parrón-Pajares M, Mensah MA, Hülsemann W, Holtgrewe M, Mundlos S, Kornak U, Bartsch O, Ehmke N. | 06/12/2021 |
| Here we describe a boy and his mother with different craniosynostosis patterns, but both with verified intracranial hypertension and heterozygosity for a truncating variant of ERF c.1201_1202delAA (p.Lys401Glufs*10). | A progressive and complex clinical course in two family members with ERF-related craniosynostosis: a case report.
Körberg I, Nowinski D, Bondeson ML, Melin M, Kölby L, Stattin EL., Free PMC Article | 07/18/2020 |
| Mutation in the ERF gene is associated with craniosynostosis syndrome. | ERF-related craniosynostosis: The phenotypic and developmental profile of a new craniosynostosis syndrome.
Glass GE, O'Hara J, Canham N, Cilliers D, Dunaway D, Fenwick AL, Jeelani NO, Johnson D, Lester T, Lord H, Morton JEV, Nishikawa H, Noons P, Schwiebert K, Shipster C, Taylor-Beadling A, Twigg SRF, Vasudevan P, Wall SA, Wilkie AOM, Wilson LC., Free PMC Article | 04/25/2020 |
| Systematic genomic sequencing of prostate cancer in African-American men revealed new insights into prostate cancer, including the identification of ERF as a prostate cancer gene; somatic copy-number alteration differences; and uncommon PIK3CA and PTEN alterations. This study highlights the importance of inclusion of underrepresented minorities in cancer sequencing studies. | Exome Sequencing of African-American Prostate Cancer Reveals Loss-of-Function ERF Mutations.
Huang FW, Mosquera JM, Garofalo A, Oh C, Baco M, Amin-Mansour A, Rabasha B, Bahl S, Mullane SA, Robinson BD, Aldubayan S, Khani F, Karir B, Kim E, Chimene-Weiss J, Hofree M, Romanel A, Osborne JR, Kim JW, Azabdaftari G, Woloszynska-Read A, Sfanos K, De Marzo AM, Demichelis F, Gabriel S, Van Allen EM, Mesirov J, Tamayo P, Rubin MA, Powell IJ, Garraway LA., Free PMC Article | 06/30/2018 |
| Identification of novel prostate cancer drivers, ERF, CREB3L1, and POU2F2, using RegNetDriver, a framework for integration of genetic and epigenetic alterations with tissue-specific regulatory network. | Identification of novel prostate cancer drivers using RegNetDriver: a framework for integration of genetic and epigenetic alterations with tissue-specific regulatory network.
Dhingra P, Martinez-Fundichely A, Berger A, Huang FW, Forbes AN, Liu EM, Liu D, Sboner A, Tamayo P, Rickman DS, Rubin MA, Khurana E., Free PMC Article | 04/21/2018 |
| data provide evidence that the oncogenicity of ERG is mediated, in part, by competition with ERF and they raise the larger question of whether other gain-of-function oncogenic transcription factors might also inactivate endogenous tumour suppressors | ERF mutations reveal a balance of ETS factors controlling prostate oncogenesis.
Bose R, Karthaus WR, Armenia J, Abida W, Iaquinta PJ, Zhang Z, Wongvipat J, Wasmuth EV, Shah N, Sullivan PS, Doran MG, Wang P, Patruno A, Zhao Y, International SU2C/PCF Prostate Cancer Dream Team, Zheng D, Schultz N, Sawyers CL., Free PMC Article | 11/25/2017 |
| We report the molecular aetiology of Chitayat syndrome and discuss potential mechanisms for this distinctive phenotype associated with the p.Tyr89Cys substitution in ERF. | Chitayat syndrome: hyperphalangism, characteristic facies, hallux valgus and bronchomalacia results from a recurrent c.266A>G p.(Tyr89Cys) variant in the ERF gene.
Balasubramanian M, Lord H, Levesque S, Guturu H, Thuriot F, Sillon G, Wenger AM, Sureka DL, Lester T, Johnson DS, Bowen J, Calhoun AR, Viskochil DH, DDD Study, Bejerano G, Bernstein JA, Chitayat D. | 11/25/2017 |
| ERF-related craniosynostosis should be suspected in patients presenting with multiple suture or sagittal synostosis | Heterozygous mutations in ERF cause syndromic craniosynostosis with multiple suture involvement.
Chaudhry A, Sabatini P, Han L, Ray PN, Forrest C, Bowdin S. | 09/3/2016 |
| This work identifies ERF as a novel regulator of osteogenic stimulation by RAS-ERK signaling, potentially by competing with activating ETS factors in multifactor transcriptional complexes | Reduced dosage of ERF causes complex craniosynostosis in humans and mice and links ERK1/2 signaling to regulation of osteogenesis.
Twigg SR, Vorgia E, McGowan SJ, Peraki I, Fenwick AL, Sharma VP, Allegra M, Zaragkoulias A, Sadighi Akha E, Knight SJ, Lord H, Lester T, Izatt L, Lampe AK, Mohammed SN, Stewart FJ, Verloes A, Wilson LC, Healy C, Sharpe PT, Hammond P, Hughes J, Taylor S, Johnson D, Wall SA, Mavrothalassitis G, Wilkie AO., Free PMC Article | 06/1/2013 |
| Data demonstrate that induction of EGR1 involves ERK-mediated down-regulation of microRNA-191 and phosphorylation of the ETS2 repressor factor (ERF) repressor, which subsequently leaves the nucleus. | EGR1 and the ERK-ERF axis drive mammary cell migration in response to EGF.
Tarcic G, Avraham R, Pines G, Amit I, Shay T, Lu Y, Zwang Y, Katz M, Ben-Chetrit N, Jacob-Hirsch J, Virgilio L, Rechavi G, Mavrothalassitis G, Mills GB, Domany E, Yarden Y., Free PMC Article | 06/2/2012 |
| Erf provides a direct link between the RAS/ERK signaling and the transcriptional regulation of c-Myc and suggests that RAS/ERK attenuation actively regulates cell fate | The RAS-dependent ERF control of cell proliferation and differentiation is mediated by c-Myc repression.
Verykokakis M, Papadaki C, Vorgia E, Le Gallic L, Mavrothalassitis G. | 01/21/2010 |
| Differential repression of c-myc and cdc2 gene expression by ERF and PE-1/METS. | Differential repression of c-myc and cdc2 gene expression by ERF and PE-1/METS.
Hester KD, Verhelle D, Escoubet-Lozach L, Luna R, Rose DW, Glass CK. | 01/21/2010 |
| Ets-2 Repressor Factor (ERF) physically interacts with the cytomegalovirus major immediate-early promoter (MIEP) and represses MIEP activity in undifferentiated non-permissive T2 embryonal carcinoma cells | Ets-2 Repressor Factor (ERF) mediates repression of the human cytomegalovirus major immediate-early promoter in undifferentiated non-permissive cells.
Bain M, Mendelson M, Sinclair J. | 01/21/2010 |
| a complex interplay between Ets/Id family members and c-Myc that may be an important determinant of the diversity of telomerase activity in leukemia and other cancers | Role of Ets/Id proteins for telomerase regulation in human cancer cells.
Xiao X, Athanasiou M, Sidorov IA, Horikawa I, Cremona G, Blair D, Barret JC, Dimitrov DS. | 01/21/2010 |
| Chromosome 21 transcription factor Ets2, overexpressed in Down syndrome, is expressed in neurons. Overexpression causes increased apoptosis of neurons from Ets2 transgenic mice and also involves activation of caspase-3. | Overexpression of the chromosome 21 transcription factor Ets2 induces neuronal apoptosis.
Wolvetang EJ, Bradfield OM, Hatzistavrou T, Crack PJ, Busciglio J, Kola I, Hertzog PJ. | 01/21/2010 |