BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

177 related articles for article (PubMed ID: 38165902)

  • 1. The landscape of SETBP1 gene expression and transcription factor activity across human tissues.
    Whitlock JH; Wilk EJ; Howton TC; Clark AD; Lasseigne BN
    PLoS One; 2024; 19(1):e0296328. PubMed ID: 38165902
    [TBL] [Abstract][Full Text] [Related]  

  • 2. The landscape of
    Whitlock JH; Wilk EJ; Howton TC; Clark AD; Lasseigne BN
    bioRxiv; 2023 Oct; ():. PubMed ID: 37873221
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
    Acuna-Hidalgo R; Deriziotis P; Steehouwer M; Gilissen C; Graham SA; van Dam S; Hoover-Fong J; Telegrafi AB; Destree A; Smigiel R; Lambie LA; Kayserili H; Altunoglu U; Lapi E; Uzielli ML; Aracena M; Nur BG; Mihci E; Moreira LM; Borges Ferreira V; Horovitz DD; da Rocha KM; Jezela-Stanek A; Brooks AS; Reutter H; Cohen JS; Fatemi A; Smitka M; Grebe TA; Di Donato N; Deshpande C; Vandersteen A; Marques Lourenço C; Dufke A; Rossier E; Andre G; Baumer A; Spencer C; McGaughran J; Franke L; Veltman JA; De Vries BB; Schinzel A; Fisher SE; Hoischen A; van Bon BW
    PLoS Genet; 2017 Mar; 13(3):e1006683. PubMed ID: 28346496
    [TBL] [Abstract][Full Text] [Related]  

  • 4. 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
    Am J Med Genet A; 2020 Aug; 182(8):1947-1951. PubMed ID: 32445275
    [TBL] [Abstract][Full Text] [Related]  

  • 5. The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate.
    Leone MP; Palumbo P; Palumbo O; Di Muro E; Chetta M; Laforgia N; Resta N; Stella A; Castellana S; Mazza T; Castori M; Carella M; Bukvic N
    Ital J Pediatr; 2020 May; 46(1):74. PubMed ID: 32460883
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Progressive brain atrophy in Schinzel-Giedion syndrome with a SETBP1 mutation.
    Takeuchi A; Okamoto N; Fujinaga S; Morita H; Shimizu J; Akiyama T; Ninomiya S; Takanashi J; Kubo T
    Eur J Med Genet; 2015 Aug; 58(8):369-71. PubMed ID: 26096993
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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
    Eur J Med Genet; 2015 Sep; 58(9):479-87. PubMed ID: 26188272
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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
    Nat Commun; 2018 Jun; 9(1):2192. PubMed ID: 29875417
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Cell-type-specific gene expression and regulation in the cerebral cortex and kidney of atypical Setbp1
    Whitlock JH; Soelter TM; Howton TC; Wilk EJ; Oza VH; Lasseigne BN
    J Cell Mol Med; 2023 Nov; 27(22):3565-3577. PubMed ID: 37872881
    [TBL] [Abstract][Full Text] [Related]  

  • 10. [Schinzel-Giedion syndrome: a new mutation in SETBP1].
    López-González V; Domingo-Jiménez MR; Burglen L; Ballesta-Martínez MJ; Whalen S; Piñero-Fernández JA; Guillén-Navarro E
    An Pediatr (Barc); 2015 Jan; 82(1):e12-6. PubMed ID: 25082129
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel SETBP1 D874V adjacent to the degron causes canonical schinzel-giedion syndrome: a case report and review of the literature.
    Zheng J; Gu M; Xiao S; Li C; Mi H; Xu X
    BMC Pediatr; 2024 May; 24(1):309. PubMed ID: 38711130
    [TBL] [Abstract][Full Text] [Related]  

  • 12. The impact of SETBP1 mutations in neurological diseases and cancer.
    Kohyanagi N; Ohama T
    Genes Cells; 2023 Sep; 28(9):629-641. PubMed ID: 37489294
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Schinzel-Giedion syndrome: a novel case, review and revised diagnostic criteria.
    Liu WL; He ZX; Li F; Ai R; Ma HW
    J Genet; 2018 Mar; 97(1):35-46. PubMed ID: 29666323
    [TBL] [Abstract][Full Text] [Related]  

  • 14. 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
    Nat Commun; 2021 Jun; 12(1):4050. PubMed ID: 34193871
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Distinct neurological features in a patient with Schinzel-Giedion syndrome caused by a recurrent SETBP1 mutation.
    Ko JM; Lim BC; Kim KJ; Hwang YS; Ryu HW; Lee JH; Kim JS; Chae JH
    Childs Nerv Syst; 2013 Apr; 29(4):525-9. PubMed ID: 23400866
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Reduced expression by SETBP1 haploinsufficiency causes developmental and expressive language delay indicating a phenotype distinct from Schinzel-Giedion syndrome.
    Filges I; Shimojima K; Okamoto N; Röthlisberger B; Weber P; Huber AR; Nishizawa T; Datta AN; Miny P; Yamamoto T
    J Med Genet; 2011 Feb; 48(2):117-22. PubMed ID: 21037274
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Schinzel-Giedion syndrome in two Brazilian patients: Report of a novel mutation in SETBP1 and literature review of the clinical features.
    Carvalho E; Honjo R; Magalhães M; Yamamoto G; Rocha K; Naslavsky M; Zatz M; Passos-Bueno MR; Kim C; Bertola D
    Am J Med Genet A; 2015 May; 167A(5):1039-46. PubMed ID: 25663181
    [TBL] [Abstract][Full Text] [Related]  

  • 18. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome.
    Hoischen A; van Bon BW; Gilissen C; Arts P; van Lier B; Steehouwer M; de Vries P; de Reuver R; Wieskamp N; Mortier G; Devriendt K; Amorim MZ; Revencu N; Kidd A; Barbosa M; Turner A; Smith J; Oley C; Henderson A; Hayes IM; Thompson EM; Brunner HG; de Vries BB; Veltman JA
    Nat Genet; 2010 Jun; 42(6):483-5. PubMed ID: 20436468
    [TBL] [Abstract][Full Text] [Related]  

  • 19. West syndrome in a patient with Schinzel-Giedion syndrome.
    Miyake F; Kuroda Y; Naruto T; Ohashi I; Takano K; Kurosawa K
    J Child Neurol; 2015 Jun; 30(7):932-6. PubMed ID: 25028416
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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
    Orphanet J Rare Dis; 2023 May; 18(1):107. PubMed ID: 37150818
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.