Terms: = Germ cell tumor AND SMARCE1, ENSG00000073584, 6605, BAF57, Q969G3
20 results:
1. Lumbar clear cell meningioma mimicking schwannoma 7 years after resection of the same type of intracranial tumor: a case report.
Horikawa T; Nozawa S; Suzui N; Yamada K; Iwai C; Akiyama H
J Med Case Rep; 2024 Feb; 18(1):82. PubMed ID: 38321548
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2. smarce1 promotes neuroblastoma tumorigenesis through assisting MYCN-mediated transcriptional activation.
Hu X; Liu R; Hou J; Peng W; Wan S; Xu M; Li Y; Zhang G; Zhai X; Liang P; Cui H
Oncogene; 2022 Sep; 41(37):4295-4306. PubMed ID: 35978151
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3. Multiple Meningiomas as a Criterion for the Diagnosis of Neurofibromatosis Type 2 and Other tumor Predisposition Syndromes.
Hannan CJ; Hammerbeck-Ward C; Pathmanaban ON; Smith MJ; Rutherford SA; Lloyd SK; Mackenzie Freeman SR; Wallace AJ; King AT; Richard Evans DG
Neurosurgery; 2022 Jun; 90(6):793-799. PubMed ID: 35343466
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4. Identification of a glioma functional network from gene fitness data using machine learning.
Xiang CX; Liu XG; Zhou DQ; Zhou Y; Wang X; Chen F
J Cell Mol Med; 2022 Feb; 26(4):1253-1263. PubMed ID: 35044082
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5. Mutational landscape in Uveal Melanoma.
Mastronikolis S; Adamopoulou M; Papouliakos S; Manoli A; Katsinis S; Makri O; Monastirioti AE; Tsiambas E; Georgakopoulos C
J BUON; 2021; 26(4):1194-1197. PubMed ID: 34564968
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6. The importance of genetic counseling and screening for people with pathogenic smarce1 variants: A family study.
Shoakazemi A; Hewitt A; Smith MJ; du Plessis D; Thomas O; Stivaros SM; Deniz K; Hammerbeck-Ward C; Rutherford SA; King AT; Evans DG
Am J Med Genet A; 2021 Feb; 185(2):561-565. PubMed ID: 33185983
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7. A narrative review of targeted therapy in meningioma, pituitary adenoma, and craniopharyngioma of the skull base.
Martinez NL; Khanna O; Farrell CJ
Chin Clin Oncol; 2020 Dec; 9(6):75. PubMed ID: 32819111
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8. Whole Exome Sequencing Identifies Candidate Genes Associated with Hereditary Predisposition to Uveal Melanoma.
Abdel-Rahman MH; Sample KM; Pilarski R; Walsh T; Grosel T; Kinnamon D; Boru G; Massengill JB; Schoenfield L; Kelly B; Gordon D; Johansson P; DeBenedictis MJ; Singh A; Casadei S; Davidorf FH; White P; Stacey AW; Scarth J; Fewings E; Tischkowitz M; King MC; Hayward NK; Cebulla CM
Ophthalmology; 2020 May; 127(5):668-678. PubMed ID: 32081490
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9. An update on the CNS manifestations of neurofibromatosis type 2.
Coy S; Rashid R; Stemmer-Rachamimov A; Santagata S
Acta Neuropathol; 2020 Apr; 139(4):643-665. PubMed ID: 31161239
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10. Anaplastic Astrocytoma in a Child With Coffin-Siris Syndrome and a germline smarce1 Mutation: A Case Report.
Lin B; Kesserwan C; Quinn EA; Einhaus SL; Wright KD; Azzato EM; Orr BA; Upadhyaya SA
J Pediatr Hematol Oncol; 2020 Apr; 42(3):e177-e180. PubMed ID: 30499906
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11. Targeted next-generation sequencing for differential diagnosis of neurofibromatosis type 2, schwannomatosis, and meningiomatosis.
Louvrier C; Pasmant E; Briand-Suleau A; Cohen J; Nitschké P; Nectoux J; Orhant L; Zordan C; Goizet C; Goutagny S; Lallemand D; Vidaud M; Vidaud D; Kalamarides M; Parfait B
Neuro Oncol; 2018 Jun; 20(7):917-929. PubMed ID: 29409008
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12. Association of Genetic Predisposition With Solitary Schwannoma or Meningioma in Children and Young Adults.
Pathmanaban ON; Sadler KV; Kamaly-Asl ID; King AT; Rutherford SA; Hammerbeck-Ward C; McCabe MG; Kilday JP; Beetz C; Poplawski NK; Evans DG; Smith MJ
JAMA Neurol; 2017 Sep; 74(9):1123-1129. PubMed ID: 28759666
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13. Cancer and Central Nervous System tumor Surveillance in Pediatric Neurofibromatosis 2 and Related Disorders.
Evans DGR; Salvador H; Chang VY; Erez A; Voss SD; Druker H; Scott HS; Tabori U
Clin Cancer Res; 2017 Jun; 23(12):e54-e61. PubMed ID: 28620005
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14. A heritable form of smarce1-related meningiomas with important implications for follow-up and family screening.
Gerkes EH; Fock JM; den Dunnen WF; van Belzen MJ; van der Lans CA; Hoving EW; Fakkert IE; Smith MJ; Evans DG; Olderode-Berends MJ
Neurogenetics; 2016 Apr; 17(2):83-9. PubMed ID: 26803492
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15. Report of a patient with a constitutional missense mutation in SMARCB1, Coffin-Siris phenotype, and schwannomatosis.
Gossai N; Biegel JA; Messiaen L; Berry SA; Moertel CL
Am J Med Genet A; 2015 Dec; 167A(12):3186-91. PubMed ID: 26364901
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16. The genetic basis of intradural spinal tumors and its impact on clinical treatment.
Karsy M; Guan J; Sivakumar W; Neil JA; Schmidt MH; Mahan MA
Neurosurg Focus; 2015 Aug; 39(2):E3. PubMed ID: 26235020
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17. Pediatric intracranial clear cell meningioma associated with a germline mutation of smarce1: a novel case.
Raffalli-Ebezant H; Rutherford SA; Stivaros S; Kelsey A; Smith M; Evans DG; Kilday JP
Childs Nerv Syst; 2015 Mar; 31(3):441-7. PubMed ID: 25249420
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18. SWI/SNF chromatin remodeling complexes and cancer.
Biegel JA; Busse TM; Weissman BE
Am J Med Genet C Semin Med Genet; 2014 Sep; 166C(3):350-66. PubMed ID: 25169151
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19. Loss-of-function mutations in smarce1 cause an inherited disorder of multiple spinal meningiomas.
Smith MJ; O'Sullivan J; Bhaskar SS; Hadfield KD; Poke G; Caird J; Sharif S; Eccles D; Fitzpatrick D; Rawluk D; du Plessis D; Newman WG; Evans DG
Nat Genet; 2013 Mar; 45(3):295-8. PubMed ID: 23377182
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20. N-terminally truncated baf57 isoforms contribute to the diversity of SWI/SNF complexes in neurons.
Kazantseva A; Sepp M; Kazantseva J; Sadam H; Pruunsild P; Timmusk T; Neuman T; Palm K
J Neurochem; 2009 May; 109(3):807-18. PubMed ID: 19245665
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