| First-hit SETBP1 mutations cause a myeloproliferative disorder with bone marrow fibrosis. | First-hit SETBP1 mutations cause a myeloproliferative disorder with bone marrow fibrosis.
Crespiatico I, Zaghi M, Mastini C, D'Aliberti D, Mauri M, Mercado CM, Fontana D, Spinelli S, Crippa V, Inzoli E, Manghisi B, Civettini I, Ramazzotti D, Sangiorgio V, Gengotti M, Brambilla V, Aroldi A, Banfi F, Barone C, Orsenigo R, Riera L, Riminucci M, Corsi A, Breccia M, Morotti A, Cilloni D, Roccaro A, Sacco A, Stagno F, Serafini M, Mottadelli F, Cazzaniga G, Pagni F, Chiarle R, Azzoni E, Sessa A, Gambacorti-Passerini C, Elli EM, Mologni L, Piazza R. | 04/10/2024 |
| Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency. | Structural rearrangements as a recurrent pathogenic mechanism for SETBP1 haploinsufficiency.
Alesi V, Genovese S, Roberti MC, Sallicandro E, Di Tommaso S, Loddo S, Orlando V, Pompili D, Calacci C, Mei V, Pisaneschi E, Faggiano MV, Morgia A, Mammì C, Astrea G, Battini R, Priolo M, Dentici ML, Milone R, Novelli A., Free PMC Article | 03/28/2024 |
| The landscape of SETBP1 gene expression and transcription factor activity across human tissues. | The landscape of SETBP1 gene expression and transcription factor activity across human tissues.
Whitlock JH, Wilk EJ, Howton TC, Clark AD, Lasseigne BN., Free PMC Article | 01/4/2024 |
| Novel SETBP1 mutation in a chinese family with intellectual disability. | Novel SETBP1 mutation in a chinese family with intellectual disability.
Wang L, Wang XD, Yang B, Wang XM, Peng YQ, Tan HJ, Xiao HM., Free PMC Article | 12/6/2023 |
| The impact of SETBP1 mutations in neurological diseases and cancer. | The impact of SETBP1 mutations in neurological diseases and cancer.
Kohyanagi N, Ohama T. | 09/8/2023 |
| SETBP1 mutation determines sensitivity to immune checkpoint inhibitors in melanoma and NSCLC. | SETBP1 mutation determines sensitivity to immune checkpoint inhibitors in melanoma and NSCLC.
An F, Zhang W, Guo Y, Shi F, Kong Y, Tang L, Han C, Wang Q., Free PMC Article | 08/25/2023 |
| Co-occurring mutations in ASXL1, SRSF2, and SETBP1 define a subset of myelodysplastic/ myeloproliferative neoplasm with neutrophilia. | Co-occurring mutations in ASXL1, SRSF2, and SETBP1 define a subset of myelodysplastic/ myeloproliferative neoplasm with neutrophilia.
Jain T, Ware AD, Dalton WB, Pasca S, Tsai HL, Gocke CD, Gondek LP, Xian RR, Borowitz MJ, Levis MJ. | 08/2/2023 |
| Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis. | Identification of a novel de novo mutation of SETBP1 and new findings of SETBP1 in tumorgenesis.
Wang H, Gao Y, Qin L, Zhang M, Shi W, Feng Z, Guo L, Zhu B, Liao S., Free PMC Article | 05/15/2023 |
| Impaired neurogenesis and neural progenitor fate choice in a human stem cell model of SETBP1 disorder. | Impaired neurogenesis and neural progenitor fate choice in a human stem cell model of SETBP1 disorder.
Cardo LF, de la Fuente DC, Li M., Free PMC Article | 02/23/2023 |
| Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of 18q12.3 encompassing SETBP1. | Prenatal diagnosis and molecular cytogenetic characterization of an inherited microdeletion of 18q12.3 encompassing SETBP1.
Zhou Y, Quan Y, Wu Y, Zhang Y., Free PMC Article | 10/22/2022 |
| Speech and language deficits are central to SETBP1 haploinsufficiency disorder. | Speech and language deficits are central to SETBP1 haploinsufficiency disorder.
Morgan A, Braden R, Wong MMK, Colin E, Amor D, Liégeois F, Srivastava S, Vogel A, Bizaoui V, Ranguin K, Fisher SE, van Bon BW., Free PMC Article | 03/19/2022 |
| Clinical delineation of SETBP1 haploinsufficiency disorder. | Clinical delineation of SETBP1 haploinsufficiency disorder.
Jansen NA, Braden RO, Srivastava S, Otness EF, Lesca G, Rossi M, Nizon M, Bernier RA, Quelin C, van Haeringen A, Kleefstra T, Wong MMK, Whalen S, Fisher SE, Morgan AT, van Bon BW., Free PMC Article | 03/19/2022 |
| Mutant SETBP1 enhances NRAS-driven MAPK pathway activation to promote aggressive leukemia. | Mutant SETBP1 enhances NRAS-driven MAPK pathway activation to promote aggressive leukemia.
Carratt SA, Braun TP, Coblentz C, Schonrock Z, Callahan R, Curtiss BM, Maloney L, Foley AC, Maxson JE., Free PMC Article | 01/29/2022 |
| SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome. | SETBP1 accumulation induces P53 inhibition and genotoxic stress in neural progenitors underlying neurodegeneration in Schinzel-Giedion syndrome.
Banfi F, Rubio A, Zaghi M, Massimino L, Fagnocchi G, Bellini E, Luoni M, Cancellieri C, Bagliani A, Di Resta C, Maffezzini C, Ianielli A, Ferrari M, Piazza R, Mologni L, Broccoli V, Sessa A., Free PMC Article | 08/7/2021 |
| A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome. | A pathogenic variant in the SETBP1 hotspot results in a forme-fruste Schinzel-Giedion syndrome.
Sullivan JA, Stong N, Baugh EH, McDonald MT, Takeuchi A, Shashi V. | 06/5/2021 |
| an exploratory analysis was conducted to examine the relationship between SETBP1 and brain activation using functional magnetic resonance imaging in reading | Common variation within the SETBP1 gene is associated with reading-related skills and patterns of functional neural activation.
Perdue MV, Mascheretti S, Kornilov SA, Jasińska KK, Ryherd K, Einar Mencl W, Frost SJ, Grigorenko EL, Pugh KR, Landi N., Free PMC Article | 07/4/2020 |
| myeloid transformation requires the interaction of XPO1 with SETBP1 | Interaction with XPO1 is essential for SETBP1 to induce myeloid transformation.
Nguyen N, Oakley K, Han Y, Kwok M, Crouch G, Du Y. | 06/6/2020 |
| CIP2A- and SETBP1-mediated PP2A inhibition reveals AKT S473 phosphorylation to be a new biomarker in AML. | CIP2A- and SETBP1-mediated PP2A inhibition reveals AKT S473 phosphorylation to be a new biomarker in AML.
Lucas CM, Scott LJ, Carmell N, Holcroft AK, Hills RK, Burnett AK, Clark RE., Free PMC Article | 02/23/2019 |
| Data indicate a SET binding protein 1 (SETBP1) function that directly affects gene transcription. | SETBP1 induces transcription of a network of development genes by acting as an epigenetic hub.
Piazza R, Magistroni V, Redaelli S, Mauri M, Massimino L, Sessa A, Peronaci M, Lalowski M, Soliymani R, Mezzatesta C, Pirola A, Banfi F, Rubio A, Rea D, Stagno F, Usala E, Martino B, Campiotti L, Merli M, Passamonti F, Onida F, Morotti A, Pavesi F, Bregni M, Broccoli V, Baumann M, Gambacorti-Passerini C., Free PMC Article | 12/22/2018 |
| SETBP1 mutations were a rare molecular event in acute myeloid leukemia and myelodysplastic syndrome patients | SETBP1 mutations in Chinese patients with acute myeloid leukemia and myelodysplastic syndrome.
Yao XY, Zhou JD, Yang J, Zhang W, Ma JC, Wen XM, Yao DM, Xu ZJ, Wu DH, He PF, Qian J, Lin J. | 09/29/2018 |
| we report here for the first time changes in the allele frequencies of CSF3R-T618I and SETBP1-G870S with response to ruxolitnib as well as insights into the clonal evolution of CNL under selective pressure from ruxolitinib. | Changes in allele frequencies of CSF3R and SETBP1 mutations and evidence of clonal evolution in a chronic neutrophilic leukemia patient treated with ruxolitinib.
Nooruddin Z, Miltgen N, Wei Q, Schowinsky J, Pan Z, Tobin J, Purev E, Gutman JA, Robinson W, Pollyea DA., Free PMC Article | 09/15/2018 |
| we report the results of a screening for mutations in SETBP1 and JAK3 of a cohort of seventy Italian patients with juvenile myelomonocytic leukemia, identifying 11.4% of them harboring secondary mutations in these two genes and discovering two new mutations in the SKI domain of SETBP1 | Mutations of SETBP1 and JAK3 in juvenile myelomonocytic leukemia: a report from the Italian AIEOP study group.
Bresolin S, De Filippi P, Vendemini F, D'Alia M, Zecca M, Meyer LH, Danesino C, Locatelli F, Masetti R, Basso G, Te Kronnie G., Free PMC Article | 01/13/2018 |
| Patients with SETBP1 hotspot mutations suffered from aggressive disease with rapid evolution and inferior overall survival. Patients with SETBP1 non-hotspot mutations had less aggressive disease and a more favorable prognosis. | Only SETBP1 hotspot mutations are associated with refractory disease in myeloid malignancies.
Winkelmann N, Schäfer V, Rinke J, Kaiser A, Ernst P, Scholl S, Hochhaus A, Ernst T. | 12/2/2017 |
| SETBP1 mutation is associated with chronic myelomonocytic leukemia. | Clinical significance of CSF3R, SRSF2 and SETBP1 mutations in chronic neutrophilic leukemia and chronic myelomonocytic leukemia.
Ouyang Y, Qiao C, Chen Y, Zhang SJ., Free PMC Article | 10/14/2017 |
| Somatic c.2608G > A (p.Gly870Ser) in the SETBP1 gene identified in a patient with Fnaconi anemia. | Novel homozygous FANCL mutation and somatic heterozygous SETBP1 mutation in a Chinese girl with Fanconi Anemia.
Wu W, Liu Y, Zhou Q, Wang Q, Luo F, Xu Z, Geng Q, Li P, Zhang HZ, Xie J. | 09/30/2017 |