Terms: = Bone cancer AND RPL5, 6125, P46777, MSTP030, MGC117339, ENSG00000122406
16 results:
1. A De Novo Frameshift Mutation in rpl5 with Classical Phenotype Abnormalities and Worsening Anemia Diagnosed in a Young Adult-A Case Report and Review of the Literature.
Dorenkamp M; Porret N; Diepold M; Rovó A
Medicina (Kaunas); 2023 Nov; 59(11):. PubMed ID: 38004002
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2. Genomic and immune signatures predict clinical outcome in newly diagnosed multiple myeloma treated with immunotherapy regimens.
Maura F; Boyle EM; Coffey D; Maclachlan K; Gagler D; Diamond B; Ghamlouch H; Blaney P; Ziccheddu B; Cirrincione A; Chojnacka M; Wang Y; Siegel A; Hoffman JE; Kazandjian D; Hassoun H; Guzman E; Mailankody S; Shah UA; Tan C; Hultcrantz M; Scordo M; Shah GL; Landau H; Chung DJ; Giralt S; Zhang Y; Arbini A; Gao Q; Roshal M; Dogan A; Lesokhin AM; Davies FE; Usmani SZ; Korde N; Morgan GJ; Landgren O
Nat Cancer; 2023 Dec; 4(12):1660-1674. PubMed ID: 37945755
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3. Identification of novel mutations in patients with Diamond-Blackfan anemia and literature review of RPS10 and RPS26 mutations.
Li J; Su Y; Chen L; Lin Y; Ru K
Int J Lab Hematol; 2023 Oct; 45(5):766-773. PubMed ID: 37376976
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4. HEATR3 variants impair nuclear import of uL18 (rpl5) and drive Diamond-Blackfan anemia.
O'Donohue MF; Da Costa L; Lezzerini M; Unal S; Joret C; Bartels M; Brilstra E; Scheijde-Vermeulen M; Wacheul L; De Keersmaecker K; Vereecke S; Labarque V; Saby M; Lefevre SD; Platon J; Montel-Lehry N; Laugero N; Lacazette E; van Gassen K; Houtkooper RH; Simsek-Kiper PO; Leblanc T; Yarali N; Cetinkaya A; Akarsu NA; Gleizes PE; Lafontaine DLJ; MacInnes AW
Blood; 2022 May; 139(21):3111-3126. PubMed ID: 35213692
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5. Deep Learning on MRI Images for Diagnosis of Lung cancer Spinal bone Metastasis.
Fan X; Zhang X; Zhang Z; Jiang Y
Contrast Media Mol Imaging; 2021; 2021():5294379. PubMed ID: 34354553
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6. Indications of amputation after limb-salvage surgery of patients with extremity-located bone and soft-tissue sarcomas: A retrospective clinical study.
Baysal Ö; Sağlam F; Sofulu Ö; Yiğit O; Şirin E; Erol B
Acta Orthop Traumatol Turc; 2021 Mar; 55(2):154-158. PubMed ID: 33847578
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7. Atypical erythroblastosis in a patient with Diamond-Blackfan anemia who developed del(20q) myelodysplasia.
Sonoda M; Ishimura M; Ichimiya Y; Terashi E; Eguchi K; Sakai Y; Takada H; Hama A; Kanno H; Toki T; Ito E; Ohga S
Int J Hematol; 2018 Aug; 108(2):228-231. PubMed ID: 29476317
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8. Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel rpl5 and mosaic RPS19 mutations.
Errichiello E; Vetro A; Mina T; Wischmeijer A; Berrino E; Carella M; Romagnoli M; Sacchini P; Venesio T; Zecca M; Zuffardi O
Blood Cells Mol Dis; 2017 May; 64():38-44. PubMed ID: 28376382
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9. Diamond Blackfan Anemia: A Nonclassical Patient With Diagnosis Assisted by Genomic Analysis.
Steinberg-Shemer O; Keel S; Dgany O; Walsh T; Noy-Lotan S; Krasnov T; Yacobovich J; Quarello P; Ramenghi U; King MC; Shimamura A; Tamary H
J Pediatr Hematol Oncol; 2016 Oct; 38(7):e260-2. PubMed ID: 27258031
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10. Role of ribosomal protein mutations in tumor development (Review).
Goudarzi KM; Lindström MS
Int J Oncol; 2016 Apr; 48(4):1313-24. PubMed ID: 26892688
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11. Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation.
Smetanina NS; Mersiyanova IV; Kurnikova MA; Ovsyannikova GS; Hachatryan LA; Bobrynina VO; Maschan MA; Novichkova GA; Lipton JM; Maschan AA
Pediatr Blood Cancer; 2015 Sep; 62(9):1597-600. PubMed ID: 25946618
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12. MRI findings of new uptake in the femoral head detected on follow-up bone scans.
Kim SH; Yoo HJ; Kang Y; Choi JY; Hong SH
AJR Am J Roentgenol; 2015 Mar; 204(3):608-14. PubMed ID: 25714292
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13. Clinical phenotype and genetic analysis of RPS19, rpl5, and RPL11 genes in Greek patients with Diamond Blackfan Anemia.
Delaporta P; Sofocleous C; Stiakaki E; Polychronopoulou S; Economou M; Kossiva L; Kostaridou S; Kattamis A
Pediatr Blood Cancer; 2014 Dec; 61(12):2249-55. PubMed ID: 25132370
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14. Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia.
Chae H; Park J; Lee S; Kim M; Kim Y; Lee JW; Chung NG; Cho B; Jeong DC; Kim J; Kim JR; Park G
Exp Mol Med; 2014 Mar; 46(3):e88. PubMed ID: 24675553
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15. Untangling the phenotypic heterogeneity of Diamond Blackfan anemia.
Farrar JE; Dahl N
Semin Hematol; 2011 Apr; 48(2):124-35. PubMed ID: 21435509
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16. Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.
Doherty L; Sheen MR; Vlachos A; Choesmel V; O'Donohue MF; Clinton C; Schneider HE; Sieff CA; Newburger PE; Ball SE; Niewiadomska E; Matysiak M; Glader B; Arceci RJ; Farrar JE; Atsidaftos E; Lipton JM; Gleizes PE; Gazda HT
Am J Hum Genet; 2010 Feb; 86(2):222-8. PubMed ID: 20116044
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