This section contains all of the research publications generated by projects supported by BRAIN UK. The publications have been split into tumour and non-tumour. Please see below for the most recent 2022 and 2021 publications.
Download the full list of publications from the previous years here.
miR-497 and 219 in blood aid meningioma classification. Abdelrahman A, Negroni C, Sahm F, Adams CL, Urbanic-Purkart T, Khalil M, Vergura R, Morelli C, Hanemann CO. J Neurooncol. 2022 Sep 8. doi: 10.1007/s11060-022-04126-0. Epub ahead of print. PMID: 36076132.
Amplification of the PLAG-family genes-PLAGL1 and PLAGL2-is a key feature of the novel tumor type CNS embryonal tumor with PLAGL amplification. Keck MK, Sill M, Wittmann A, Joshi P, Stichel D, Beck P, Okonechnikow K, Sievers P, Wefers AK, Roncaroli F, Avula S, McCabe MG, Hayden JT, Wesseling P, Øra I, Nistér M, Kranendonk MEG, Tops BBJ, Zapotocky M, Zamecnik J, Vasiljevic A, Fenouil T, Meyronet D, von Hoff K, Schüller U, Loiseau H, Figarella-Branger D, Kramm CM, Sturm D, Scheie D, Rauramaa T, Pesola J, Gojo J, Haberler C, Brandner S, Jacques T, Sexton Oates A, Saffery R, Koscielniak E, Baker SJ, Yip S, Snuderl M, Ud Din N, Samuel D, Schramm K, Blattner-Johnson M, Selt F, Ecker J, Milde T, von Deimling A, Korshunov A, Perry A, Pfister SM, Sahm F, Solomon DA, Jones DTW. Acta Neuropathol. 2022 Nov 27. doi: 10.1007/s00401-022-02516-2. Epub ahead of print. PMID: 36437415.
Integrated Molecular-Morphologic Meningioma Classification: A Multicenter Retrospective Analysis, Retrospectively and Prospectively Validated. Maas SLN, Stichel D, Hielscher T, Sievers P, Berghoff AS, Schrimpf D, Sill M, Euskirchen P, Blume C, Patel A, Dogan H, Reuss D, Dohmen H, Stein M, Reinhardt A, Suwala AK, Wefers AK, Baumgarten P, Ricklefs F, Rushing EJ, Bewerunge-Hudler M, Ketter R, Schittenhelm J, Jaunmuktane Z, Leu S, Greenway FEA, Bridges LR, Jones T, Grady C, Serrano J, Golfinos J, Sen C, Mawrin C, Jungk C, Hänggi D, Westphal M, Lamszus K, Etminan N, Jungwirth G, Herold-Mende C, Unterberg A, Harter PN, Wirsching HG, Neidert MC, Ratliff M, Platten M, Snuderl M, Aldape KD, Brandner S, Hench J, Frank S, Pfister SM, Jones DTW, Reifenberger G, Acker T, Wick W, Weller M, Preusser M, von Deimling A, Sahm F; German Consortium on Aggressive Meningiomas (KAM).J Clin Oncol. 2021 Dec 1;39(34):3839-3852. doi: 10.1200/JCO.21.00784. Epub 2021 Oct 7. PMID: 34618539; PMCID: PMC8713596.
Clinical implementation of integrated molecular-morphologic risk prediction for meningioma. Hielscher T, Sill M, Sievers P, Stichel D, Brandner S, Jones DTW, von Deimling A, Sahm F, Maas SLN. Brain Pathol. 2022 Nov 14:e13132. doi: 10.1111/bpa.13132. Epub ahead of print. PMID: 36377252.
Duchenne muscular dystrophy gene expression is an independent prognostic marker for IDH mutant low-grade glioma. Naidoo M, Jones L, Conboy B, Hamarneh W, D'Souza D, Anthony K, Machado LR. Sci Rep. 2022 Feb 25;12(1):3200. doi: 10.1038/s41598-022-07223-2. PMID: 35217778; PMCID: PMC8881458.
Are We Looking Into an Iron Age for Subarachnoid Hemorrhage? Plesnila N. Stroke. 2022 May;53(5):1643-1644. doi: 10.1161/STROKEAHA.121.037670. Epub 2022 Feb 24. PMID: 35196872.
Innate Immune Anti-Inflammatory Response in Human Spontaneous Intracerebral Hemorrhage. Shtaya A, Bridges LR, Williams R, Trippier S, Zhang L, Pereira AC, Nicoll JAR, Boche D, Hainsworth AH. Stroke. 2021 Nov;52(11):3613-3623. doi: 10.1161/STROKEAHA.121.034673. Epub 2021 Jul 20. Erratum in: Stroke. 2022 Apr;53(4):e188. PMID: 34281379; PMCID: PMC7611898.
Vascular Collagen Type-IV in Hypertension and Cerebral Small Vessel Disease. Kumar AA, Yeo N, Whittaker M, Attra P, Barrick TR, Bridges LR, Dickson DW, Esiri MM, Farris CW, Graham D, Lin WL, Meijles DN, Pereira AC, Perry G, Rosene DL, Shtaya AB, Van Agtmael T, Zamboni G, Hainsworth AH. Stroke. 2022 Oct 7:101161STROKEAHA122037761. doi: 10.1161/STROKEAHA.122.037761. Epub ahead of print. PMID: 36205142.
Concussion leads to widespread axonal sodium channel loss and disruption of the node of Ranvier. Song H, McEwan PP, Ameen-Ali KE, Tomasevich A, Kennedy-Dietrich C, Palma A, Arroyo EJ, Dolle JP, Johnson VE, Stewart W, Smith DH. Acta Neuropathol. 2022 Nov;144(5):967-985. doi: 10.1007/s00401-022-02498-1. Epub 2022 Sep 15. PMID: 36107227; PMCID: PMC9547928.
SMN-deficient cells exhibit increased ribosomal DNA damage. Karyka E, Berrueta Ramirez N, Webster CP, Marchi PM, Graves EJ, Godena VK, Marrone L, Bhargava A, Ray S, Ning K, Crane H, Hautbergue GM, El-Khamisy SF, Azzouz M. Life Sci Alliance. 2022 Apr 19;5(8):e202101145. doi: 10.26508/lsa.202101145. PMID: 35440492; PMCID: PMC9018017.
Expression of human-specific ARHGAP11B in mice leads to neocortex expansion and increased memory flexibility. Xing L, Kubik-Zahorodna A, Namba T, Pinson A, Florio M, Prochazka J, Sarov M, Sedlacek R, Huttner WB. EMBO J. 2021 Jul 1;40(13):e107093. doi: 10.15252/embj.2020107093. Epub 2021 May 3. PMID: 33938018; PMCID: PMC8246068.
Human TKTL1 implies greater neurogenesis in frontal neocortex of modern humans than Neanderthals. Pinson A, Xing L, Namba T, Kalebic N, Peters J, Oegema CE, Traikov S, Reppe K, Riesenberg S, Maricic T, Derihaci R, Wimberger P, Pääbo S, Huttner WB. Science. 2022 Sep 9;377(6611):eabl6422. doi: 10.1126/science.abl6422. Epub 2022 Sep 9. PMID: 36074851.
The spatiotemporal dynamics of microglia across the human lifespan. Menassa DA, Muntslag TAO, Martin-Estebané M, Barry-Carroll L, Chapman MA, Adorjan I, Tyler T, Turnbull B, Rose-Zerilli MJJ, Nicoll JAR, Krsnik Z, Kostovic I, Gomez-Nicola D. Dev Cell. 2022 Aug 9:S1534-5807(22)00546-9. doi: 10.1016/j.devcel.2022.07.015. Epub ahead of print. PMID: 35977545.
Multisystem screening reveals SARS-CoV-2 in neurons of the myenteric plexus and in megakaryocytes. Gray-Rodriguez S, Jensen MP, Otero-Jimenez M, Hanley B, Swann OC, Ward PA, Salguero FJ, Querido N, Farkas I, Velentza-Almpani E, Weir J, Barclay WS, Carroll MW, Jaunmuktane Z, Brandner S, Pohl U, Allinson K, Thom M, Troakes C, Al-Sarraj S, Sastre M, Gveric D, Gentleman S, Roufosse C, Osborn M, Alegre-Abarrategui J. J Pathol. 2022 Jun;257(2):198-217. doi: 10.1002/path.5878. Epub 2022 Mar 31. PMID: 35107828; PMCID: PMC9325073.
Histopathological correlates of haemorrhagic lesions on ex vivo magnetic resonance imaging in immunized Alzheimer's disease cases. Scherlek AA, Kozberg MG, Nicoll JAR, Perosa V, Freeze WM, van der Weerd L, Bacskai BJ, Greenberg SM, Frosch MP, Boche D, van Veluw SJ. Brain Commun. 2022 Feb 3;4(1):fcac021. doi: 10.1093/braincomms/fcac021. PMID: 35224489; PMCID: PMC8870423.
Human Endogenous Retrovirus Type K Promotes Proliferation and Confers Sensitivity to Antiretroviral Drugs in Merlin-Negative Schwannoma and Meningioma. Maze EA, Agit B, Reeves S, Hilton DA, Parkinson DB, Laraba L, Ercolano E, Kurian KM, Hanemann CO, Belshaw RD, Ammoun S. Cancer Res. 2022 Jan 15;82(2):235-247. doi: 10.1158/0008-5472.CAN-20-3857. Epub 2021 Dec 1. PMID: 34853069.
Advanced Molecular Characterization Using Digital Spatial Profiling Technology on Immunooncology Targets in Methylated Compared with Unmethylated IDH-Wildtype Glioblastoma. Barber H, Tofias A, Lander B, Daniels A, Gong J, Ren Y, Ren X, Liang Y, White P, Kurian KM.J Oncol. 2021 Feb 24;2021:8819702. doi: 10.1155/2021/8819702. PMID: 33995529; PMCID: PMC8096575.
Biomarkers for differentiating grade II meningiomas from grade I: a systematic review. Sofela AA, McGavin L, Whitfield PC, Hanemann CO. Br J Neurosurg. 2021 Jun 21:1-7. doi: 10.1080/02688697.2021.1940853. Epub ahead of print. PMID: 34148477.
Fibulin-2: A Novel Biomarker for Differentiating Grade II from Grade I Meningiomas. Sofela AA, Hilton DA, Ammoun S, Baiz D, Adams CL, Ercolano E, Jenkinson MD, Kurian KM, Teo M, Whitfield PC, Sahm F, Hanemann CO. Int J Mol Sci. 2021 Jan 8;22(2):560. doi: 10.3390/ijms22020560. PMID: 33429944; PMCID: PMC7827565.
Prevalence of BRAFV600 in glioma and use of BRAF Inhibitors in patients with BRAFV600 mutation-positive glioma: systematic review. Andrews LJ, Thornton ZA, Saincher SS, Yao IY, Dawson S, McGuinness LA, Jones HE, Jefferies S, Short SC, Cheng HY, McAleenan A, Higgins JPT, Kurian KM. Neuro Oncol. 2021 Oct 28:noab247. doi: 10.1093/neuonc/noab247. Epub ahead of print. PMID: 34718782.
Distinct DNA Methylation Patterns of Subependymal Giant Cell Astrocytomas in Tuberous Sclerosis Complex. Bongaarts A, Mijnsbergen C, Anink JJ, Jansen FE, Spliet WGM, den Dunnen WFA, Coras R, Blümcke I, Paulus W, Gruber VE, Scholl T, Hainfellner JA, Feucht M, Kotulska K, Jozwiak S, Grajkowska W, Buccoliero AM, Caporalini C, Giordano F, Genitori L, Söylemezoğlu F, Pimentel J, Jones DTW, Scicluna BP, Schouten-van Meeteren AYN, Mühlebner A, Mills JD, Aronica E. Cell Mol Neurobiol. 2021 Oct 28. doi: 10.1007/s10571-021-01157-5. Epub ahead of print. PMID: 34709498.
A rare case of paediatric astroblastoma with concomitant MN1-GTSE1 and EWSR1-PATZ1 gene fusions altering management. Chadda KR, Holland K, Scoffings D, Dean A, Pickles JC, Behjati S, Jacques TS, Trotman J, Tarpey P, Allinson K, Murray MJ; Genomics England Research Consortium. Neuropathol Appl Neurobiol. 2021 Feb 3. doi: 10.1111/nan.12701. Epub ahead of print. PMID: 33534137.
Emergence and maintenance of actionable genetic drivers at medulloblastoma relapse. Richardson S, Hill RM, Kui C, Lindsey JC, Grabovksa Y, Keeling C, Pease L, Bashton M, Crosier S, Vinci M, André N, Figarella-Branger D, Hansford JR, Lastowska M, Zakrzewski K, Jorgensen M, Pickles JC, Taylor MD, Pfister SM, Wharton SB, Pizer B, Michalski A, Joshi A, Jacques TS, Hicks D, Schwalbe EC, Williamson D, Ramaswamy V, Bailey S, Clifford SC. Neuro Oncol. 2021 Jul 17:noab178. doi: 10.1093/neuonc/noab178. Epub ahead of print. PMID: 34272868.
Therapeutic implications of improved molecular diagnostics for rare CNS embryonal tumor entities: results of an international, retrospective study. von Hoff K, Haberler C, Schmitt-Hoffner F, Schepke E, de Rojas T, Jacobs S, Zapotocky M, Sumerauer D, Perek-Polnik M, Dufour C, van Vuurden D, Slavc I, Gojo J, Pickles JC, Gerber NU, Massimino M, Gil-da-Costa MJ, Garami M, Kumirova E, Sehested A, Scheie D, Cruz O, Moreno L, Cho J, Zeller B, Bovenschen N, Grotzer M, Alderete D, Snuderl M, Zheludkova O, Golanov A, Okonechnikov K, Mynarek M, Juhnke BO, Rutkowski S, Schüller U, Pizer B, von Zezschwitz B, Kwiecien R, Wechsung M, Konietschke F, Hwang EI, Sturm D, Pfister SM, von Deimling A, Rushing EJ, Ryzhova M, Hauser P, Łastowska M, Wesseling P, Giangaspero F, Hawkins C, Figarella-Branger D, Eberhart C, Burger P, Gessi M, Korshunov A, Jacques TS, Capper D, Pietsch T, Kool M. Neuro Oncol. 2021 Sep 1;23(9):1597-1611. doi: 10.1093/neuonc/noab136. PMID: 34077956; PMCID: PMC8408859.
The white matter is a pro-differentiative niche for glioblastoma. Brooks LJ, Clements MP, Burden JJ, Kocher D, Richards L, Devesa SC, Zakka L, Woodberry M, Ellis M, Jaunmuktane Z, Brandner S, Morrison G, Pollard SM, Dirks PB, Marguerat S, Parrinello S. Nat Commun. 2021 Apr 12;12(1):2184. doi: 10.1038/s41467-021-22225-w. PMID: 33846316; PMCID: PMC8042097.
Recurrent fusions in PLAGL1 define a distinct subset of pediatric-type supratentorial neuroepithelial tumors. Sievers P, Henneken SC, Blume C, Sill M, Schrimpf D, Stichel D, Okonechnikov K, Reuss DE, Benzel J, Maaß KK, Kool M, Sturm D, Zheng T, Ghasemi DR, Kohlhof-Meinecke P, Cruz O, Suñol M, Lavarino C, Ruf V, Boldt HB, Pagès M, Pouget C, Schweizer L, Kranendonk MEG, Akhtar N, Bunkowski S, Stadelmann C, Schüller U, Mueller WC, Dohmen H, Acker T, Harter PN, Mawrin C, Beschorner R, Brandner S, Snuderl M, Abdullaev Z, Aldape K, Gilbert MR, Armstrong TS, Ellison DW, Capper D, Ichimura K, Reifenberger G, Grundy RG, Jabado N, Krskova L, Zapotocky M, Vicha A, Varlet P, Wesseling P, Rutkowski S, Korshunov A, Wick W, Pfister SM, Jones DTW, von Deimling A, Pajtler KW, Sahm F. Acta Neuropathol. 2021 Nov;142(5):827-839. doi: 10.1007/s00401-021-02356-6. Epub 2021 Aug 5. PMID: 34355256; PMCID: PMC8500895.
Cross-Species Genomics Reveals Oncogenic Dependencies in ZFTA/C11orf95 Fusion-Positive Supratentorial Ependymomas. Zheng T, Ghasemi DR, Okonechnikov K, Korshunov A, Sill M, Maass KK, Benites Goncalves da Silva P, Ryzhova M, Gojo J, Stichel D, Arabzade A, Kupp R, Benzel J, Taya S, Adachi T, Shiraishi R, Gerber NU, Sturm D, Ecker J, Sievers P, Selt F, Chapman R, Haberler C, Figarella-Branger D, Reifenberger G, Fleischhack G, Rutkowski S, Donson AM, Ramaswamy V, Capper D, Ellison DW, Herold-Mende CC, Schüller U, Brandner S, Driever PH, Kros JM, Snuderl M, Milde T, Grundy RG, Hoshino M, Mack SC, Gilbertson RJ, Jones DTW, Kool M, von Deimling A, Pfister SM, Sahm F, Kawauchi D, Pajtler KW. Cancer Discov. 2021 Sep;11(9):2230-2247. doi: 10.1158/2159-8290.CD-20-0963. Epub 2021 Apr 20. PMID: 33879448.
Glioblastomas with primitive neuronal component harbor a distinct methylation and copy-number profile with inactivation of TP53, PTEN, and RB1. Suwala AK, Stichel D, Schrimpf D, Maas SLN, Sill M, Dohmen H, Banan R, Reinhardt A, Sievers P, Hinz F, Blattner-Johnson M, Hartmann C, Schweizer L, Boldt HB, Kristensen BW, Schittenhelm J, Wood MD, Chotard G, Bjergvig R, Das A, Tabori U, Hasselblatt M, Korshunov A, Abdullaev Z, Quezado M, Aldape K, Harter PN, Snuderl M, Hench J, Frank S, Acker T, Brandner S, Winkler F, Wesseling P, Pfister SM, Reuss DE, Wick W, von Deimling A, Jones DTW, Sahm F. Acta Neuropathol. 2021 Jul;142(1):179-189. doi: 10.1007/s00401-021-02302-6. Epub 2021 Apr 19. PMID: 33876327; PMCID: PMC8217054.
Clear cell meningiomas are defined by a highly distinct DNA methylation profile and mutations in SMARCE1. Sievers P, Sill M, Blume C, Tauziede-Espariat A, Schrimpf D, Stichel D, Reuss DE, Dogan H, Hartmann C, Mawrin C, Hasselblatt M, Stummer W, Schick U, Hench J, Frank S, Ketter R, Schweizer L, Schittenhelm J, Puget S, Brandner S, Jaunmuktane Z, Küsters B, Abdullaev Z, Pekmezci M, Snuderl M, Ratliff M, Herold-Mende C, Unterberg A, Aldape K, Ellison DW, Wesseling P, Reifenberger G, Wick W, Perry A, Varlet P, Pfister SM, Jones DTW, von Deimling A, Sahm F; German Consortium “Aggressive Meningiomas”. Acta Neuropathol. 2021 Feb;141(2):281-290. doi: 10.1007/s00401-020-02247-2. Epub 2020 Dec 14. PMID: 33319313; PMCID: PMC7847462.
Inhibition of microglial EZH2 leads to anti-tumoral effects in pediatric diffuse midline gliomas. Keane L, Cheray M, Saidi D, Kirby C, Friess L, Gonzalez-Rodriguez P, Gerdes ME, Grabert K, McColl BW, Joseph B. Neurooncol Adv. 2021 Jul 5;3(1):vdab096. doi: 10.1093/noajnl/vdab096. PMID: 34485907; PMCID: PMC8409254.
Hypothesis: Entrapment of lipoprotein particles in the brain causes Alzheimer’s disease. Boche, D., & Nicoll, J. A. (2021).Free Neuropathology, 2, 30. https://doi.org/10.17879/freeneuropathology-2021-3459
Iron Deposition in the Brain After Aneurysmal Subarachnoid Hemorrhage. Galea I, Durnford A, Glazier J, Mitchell S, Kohli S, Foulkes L, Norman J, Darekar A, Love S, Bulters DO, Nicoll JAR, Boche D. Stroke. 2022 May;53(5):1633-1642. doi: 10.1161/STROKEAHA.121.036645. Epub 2022 Feb 24. PMID: 35196874.
Immune environment of the brain in schizophrenia and during the psychotic episode: A human post-mortem study. De Picker LJ, Victoriano GM, Richards R, Gorvett AJ, Lyons S, Buckland GR, Tofani T, Norman JL, Chatelet DS, Nicoll JAR, Boche D. Brain Behav Immun. 2021 Oct;97:319-327. doi: 10.1016/j.bbi.2021.07.017. Epub 2021 Jul 30. PMID: 34339805; PMCID: PMC8475749.
COllaborative Neuropathology NEtwork Characterizing ouTcomes of TBI (CONNECT-TBI). Smith DH, Dollé JP, Ameen-Ali KE, Bretzin A, Cortes E, Crary JF, Dams-O'Connor K, Diaz-Arrastia R, Edlow BL, Folkerth R, Hazrati LN, Hinds SR, Iacono D, Johnson VE, Keene CD, Kofler J, Kovacs GG, Lee EB, Manley G, Meaney D, Montine T, Okonkwo DO, Perl DP, Trojanowski JQ, Wiebe DJ, Yaffe K, McCabe T, Stewart W. Acta Neuropathol Commun. 2021 Mar 1;9(1):32. doi: 10.1186/s40478-021-01122-9. PMID: 33648593; PMCID: PMC7919306.
Alzheimer's disease neuropathological change three decades after iatrogenic amyloid-β transmission. Jaunmuktane Z, Banerjee G, Paine S, Parry-Jones A, Rudge P, Grieve J, Toma AK, Farmer SF, Mead S, Houlden H, Werring DJ, Brandner S. Acta Neuropathol. 2021 Jul;142(1):211-215. doi: 10.1007/s00401-021-02326-y. Epub 2021 May 28. PMID: 34047818; PMCID: PMC8217014.
Innate Immune Anti-Inflammatory Response in Human Spontaneous Intracerebral Hemorrhage. Shtaya A, Bridges LR, Williams R, Trippier S, Zhang L, Pereira AC, Nicoll JAR, Boche D, Hainsworth AH. Stroke. 2021 Nov;52(11):3613-3623. doi: 10.1161/STROKEAHA.121.034673. Epub 2021 Jul 20. PMID: 34281379; PMCID: PMC7611898.