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Somatic SETBP1 mutations in myeloid neoplasms.
Makishima H. Makishima H. Int J Hematol. 2017 Jun;105(6):732-742. doi: 10.1007/s12185-017-2241-1. Epub 2017 Apr 26. Int J Hematol. 2017. PMID: 28447248 Review.
In general, somatic SETBP1 mutations have a significant clinical impact on the outcome as poor prognostic factor, due to downstream HOXA-pathway as well as associated aggressive types of chromosomal defects (-7/del(7q) and i(17q)), which is consistent with wild-type SETBP1 …
In general, somatic SETBP1 mutations have a significant clinical impact on the outcome as poor prognostic factor, due to downstream H …
The impact of SETBP1 mutations in neurological diseases and cancer.
Kohyanagi N, Ohama T. Kohyanagi N, et al. Genes Cells. 2023 Sep;28(9):629-641. doi: 10.1111/gtc.13057. Epub 2023 Jul 25. Genes Cells. 2023. PMID: 37489294 Free article. Review.
High SET expression positively correlates with a poor cancer prognosis. SETBP1 (SET-binding protein 1/SEB/MRD29), identified as SET-binding protein, is the causative gene of Schinzel-Giedion syndrome, which is characterized by severe intellectual disability and a distorted …
High SET expression positively correlates with a poor cancer prognosis. SETBP1 (SET-binding protein 1/SEB/MRD29), identified as SET-b …
Schinzel-Giedion syndrome with sacrococcygeal teratoma.
Sandri A, Manazza AD, Bertin D, Silengo M, Basso ME, Forni M, Madon E. Sandri A, et al. J Pediatr Hematol Oncol. 2003 Jul;25(7):558-61. doi: 10.1097/00043426-200307000-00012. J Pediatr Hematol Oncol. 2003. PMID: 12847324
Recurrent SETBP1 mutations in atypical chronic myeloid leukemia.
Piazza R, Valletta S, Winkelmann N, Redaelli S, Spinelli R, Pirola A, Antolini L, Mologni L, Donadoni C, Papaemmanuil E, Schnittger S, Kim DW, Boultwood J, Rossi F, Gaipa G, De Martini GP, di Celle PF, Jang HG, Fantin V, Bignell GR, Magistroni V, Haferlach T, Pogliani EM, Campbell PJ, Chase AJ, Tapper WJ, Cross NC, Gambacorti-Passerini C. Piazza R, et al. Nat Genet. 2013 Jan;45(1):18-24. doi: 10.1038/ng.2495. Epub 2012 Dec 9. Nat Genet. 2013. PMID: 23222956 Free PMC article.
Individuals with mutations had higher white blood cell counts (P = 0.008) and worse prognosis (P = 0.01). The p.Gly870Ser alteration abrogated a site for ubiquitination, and cells exogenously expressing this mutant exhibited higher amounts of SETBP1 and SET protein, lower …
Individuals with mutations had higher white blood cell counts (P = 0.008) and worse prognosis (P = 0.01). The p.Gly870Ser alteration …
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. Sullivan JA, et al. Am J Med Genet A. 2020 Aug;182(8):1947-1951. doi: 10.1002/ajmg.a.61630. Epub 2020 May 22. Am J Med Genet A. 2020. PMID: 32445275
Schinzel-Giedion syndrome (SGS; OMIM 269150) is an ultra-rare genetic disorder associated with a distinctive facial gestalt, congenital malformations, severe intellectual disability, and a progressive neurological course. The prognosis for SGS is poor, with survival …
Schinzel-Giedion syndrome (SGS; OMIM 269150) is an ultra-rare genetic disorder associated with a distinctive facial gestalt, congenital malf …
Somatic SETBP1 mutations in myeloid malignancies.
Makishima H, Yoshida K, Nguyen N, Przychodzen B, Sanada M, Okuno Y, Ng KP, Gudmundsson KO, Vishwakarma BA, Jerez A, Gomez-Segui I, Takahashi M, Shiraishi Y, Nagata Y, Guinta K, Mori H, Sekeres MA, Chiba K, Tanaka H, Muramatsu H, Sakaguchi H, Paquette RL, McDevitt MA, Kojima S, Saunthararajah Y, Miyano S, Shih LY, Du Y, Ogawa S, Maciejewski JP. Makishima H, et al. Nat Genet. 2013 Aug;45(8):942-6. doi: 10.1038/ng.2696. Epub 2013 Jul 7. Nat Genet. 2013. PMID: 23832012 Free PMC article.
Mutant cases were associated with advanced age and monosomy 7/deletion 7q (-7/del(7q)) constituting poor prognostic factors. Analysis of serially collected samples indicated that SETBP1 mutations were acquired during leukemic evolution. ...Somatic mutations of SETBP1 seem …
Mutant cases were associated with advanced age and monosomy 7/deletion 7q (-7/del(7q)) constituting poor prognostic factors. Analysis …
Long term follow up of two independent patients with Schinzel-Giedion carrying SETBP1 mutations.
Herenger Y, Stoetzel C, Schaefer E, Scheidecker S, Manière MC, Pelletier V, Alembik Y, Christmann D, Clavert JM, Terzic J, Fischbach M, De Saint Martin A, Dollfus H. Herenger Y, et al. Eur J Med Genet. 2015 Sep;58(9):479-87. doi: 10.1016/j.ejmg.2015.07.004. Epub 2015 Jul 15. Eur J Med Genet. 2015. PMID: 26188272
Schinzel-Giedion syndrome (SGS, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, hypertrichosis and multiple congenital malformations including skeletal, genitourinary, renal and cardiac abnormalities. The prognosis o …
Schinzel-Giedion syndrome (SGS, MIM #269150) is a rare syndrome characterized by severe intellectual disability, typical facial gestalt, hyp …
14 results