Terms: = Leukemia AND SBDS, SWDS, 51119, ENSG00000126524, FLJ10917, CGI-97, Q9Y3A5
41 results:
1. Germ line variants in patients with acute myeloid leukemia without a suspicion of hereditary hematologic malignancy syndrome.
Guijarro F; López-Guerra M; Morata J; Bataller A; Paz S; Cornet-Masana JM; Banús-Mulet A; Cuesta-Casanovas L; Carbó JM; Castaño-Díez S; Jiménez-Vicente C; Cortés-Bullich A; Triguero A; Martínez-Roca A; Esteban D; Gómez-Hernando M; Álamo Moreno JR; López-Oreja I; Garrote M; Risueño RM; Tonda R; Gut I; Colomer D; Díaz-Beya M; Esteve J
Blood Adv; 2023 Oct; 7(19):5799-5811. PubMed ID: 37450374
[TBL] [Abstract] [Full Text] [Related]
2. Phenotypic Variation in Two Siblings Affected with Shwachman-Diamond Syndrome: The Use of Expert Variant Interpreter (eVai) Suggests Clinical Relevance of a Variant in the KMT2A Gene.
Taha I; De Paoli F; Foroni S; Zucca S; Limongelli I; Cipolli M; Danesino C; Ramenghi U; Minelli A
Genes (Basel); 2022 Jul; 13(8):. PubMed ID: 35893049
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3. [Haploidentical stem cell transplantation for acute myeloid leukemia associated with adult-onset Shwachman-Diamond syndrome].
Uemura Y; Hirakawa T; Matsunawa M; Kozuki K; Saiki Y; Takimoto M; Sano F; Watanabe K; Inoue Y; Arai A
Rinsho Ketsueki; 2022; 63(2):94-98. PubMed ID: 35264508
[TBL] [Abstract] [Full Text] [Related]
4. Hematologic complications with age in Shwachman-Diamond syndrome.
Furutani E; Liu S; Galvin A; Steltz S; Malsch MM; Loveless SK; Mount L; Larson JH; Queenan K; Bertuch AA; Fleming MD; Gansner JM; Geddis AE; Hanna R; Keel SB; Lau BW; Lipton JM; Lorsbach R; Nakano TA; Vlachos A; Wang WC; Davies SM; Weller E; Myers KC; Shimamura A
Blood Adv; 2022 Jan; 6(1):297-306. PubMed ID: 34758064
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5. Identification of an asymptomatic Shwachman-Bodian-Diamond syndrome mutation in a patient with acute myeloid leukemia.
Shibata S; Inano S; Watanabe M; Fujiwara K; Ueno H; Nannya Y; Kanda J; Kawasaki N; Okamoto Y; Takiuchi Y; Fukunaga A; Tabata S; Ogawa S; Takaori-Kondo A; Kitano T
Int J Hematol; 2022 Mar; 115(3):428-434. PubMed ID: 34704233
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6. Inducible sbds deletion impairs bone marrow niche capacity to engraft donor bone marrow after transplantation.
Zha J; Kunselman LK; Xie HM; Ennis B; Shah YB; Qin X; Fan JM; Babushok DV; Olson TS
Blood Adv; 2022 Jan; 6(1):108-120. PubMed ID: 34625796
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7. Somatic genetic rescue of a germline ribosome assembly defect.
Tan S; Kermasson L; Hilcenko C; Kargas V; Traynor D; Boukerrou AZ; Escudero-Urquijo N; Faille A; Bertrand A; Rossmann M; Goyenechea B; Jin L; Moreil J; Alibeu O; Beaupain B; Bôle-Feysot C; Fumagalli S; Kaltenbach S; Martignoles JA; Masson C; Nitschké P; Parisot M; Pouliet A; Radford-Weiss I; Tores F; de Villartay JP; Zarhrate M; Koh AL; Phua KB; Reversade B; Bond PJ; Bellanné-Chantelot C; Callebaut I; Delhommeau F; Donadieu J; Warren AJ; Revy P
Nat Commun; 2021 Aug; 12(1):5044. PubMed ID: 34413298
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8. [Predisposition and progression of myelodysplastic syndromes].
Makishima H
Rinsho Ketsueki; 2021; 62(4):278-288. PubMed ID: 33967153
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9. Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome.
Kennedy AL; Myers KC; Bowman J; Gibson CJ; Camarda ND; Furutani E; Muscato GM; Klein RH; Ballotti K; Liu S; Harris CE; Galvin A; Malsch M; Dale D; Gansner JM; Nakano TA; Bertuch A; Vlachos A; Lipton JM; Castillo P; Connelly J; Churpek J; Edwards JR; Hijiya N; Ho RH; Hofmann I; Huang JN; Keel S; Lamble A; Lau BW; Norkin M; Stieglitz E; Stock W; Walkovich K; Boettcher S; Brendel C; Fleming MD; Davies SM; Weller EA; Bahl C; Carter SL; Shimamura A; Lindsley RC
Nat Commun; 2021 Feb; 12(1):1334. PubMed ID: 33637765
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10. Prevalence and clinical implications of germline predisposition gene mutations in patients with acute myeloid leukemia.
Kim B; Yun W; Lee ST; Choi JR; Yoo KH; Koo HH; Jung CW; Kim SH
Sci Rep; 2020 Aug; 10(1):14297. PubMed ID: 32868804
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11. [Clinical features and gene mutations of children with Shwachman-Diamond syndrome and malignant myeloid transformation].
An WB; Liu C; Wan Y; Chang LX; Chen XY; Zhu XF
Zhongguo Dang Dai Er Ke Za Zhi; 2020 May; 22(5):460-465. PubMed ID: 32434641
[TBL] [Abstract] [Full Text] [Related]
12. Inflammatory manifestations in patients with Shwachman-Diamond syndrome: A novel phenotype.
Furutani E; Shah AS; Zhao Y; Andorsky D; Dedeoglu F; Geddis A; Zhou Y; Libermann TA; Myers KC; Shimamura A
Am J Med Genet A; 2020 Jul; 182(7):1754-1760. PubMed ID: 32293785
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13. A Prospective Study of Hematologic Complications and Long-Term Survival of Italian Patients Affected by Shwachman-Diamond Syndrome.
Cesaro S; Pegoraro A; Sainati L; Lucidi V; Montemitro E; Corti P; Ramenghi U; Nasi C; Menna G; Zecca M; Danesino C; Nicolis E; Pasquali F; Perobelli S; Tridello G; Farruggia P; Cipolli M
J Pediatr; 2020 Apr; 219():196-201.e1. PubMed ID: 32037152
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14. Clinical features and outcomes of patients with Shwachman-Diamond syndrome and myelodysplastic syndrome or acute myeloid leukaemia: a multicentre, retrospective, cohort study.
Myers KC; Furutani E; Weller E; Siegele B; Galvin A; Arsenault V; Alter BP; Boulad F; Bueso-Ramos C; Burroughs L; Castillo P; Connelly J; Davies SM; DiNardo CD; Hanif I; Ho RH; Karras N; Manalang M; McReynolds LJ; Nakano TA; Nalepa G; Norkin M; Oberley MJ; Orgel E; Pastore YD; Rosenthal J; Walkovich K; Larson J; Malsch M; Elghetany MT; Fleming MD; Shimamura A
Lancet Haematol; 2020 Mar; 7(3):e238-e246. PubMed ID: 31879230
[TBL] [Abstract] [Full Text] [Related]
15. Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives.
Bezzerri V; Cipolli M
Mol Diagn Ther; 2019 Apr; 23(2):281-290. PubMed ID: 30413969
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16. Ataluren-driven restoration of Shwachman-Bodian-Diamond syndrome protein function in Shwachman-Diamond syndrome bone marrow cells.
Bezzerri V; Bardelli D; Morini J; Vella A; Cesaro S; Sorio C; Biondi A; Danesino C; Farruggia P; Assael BM; D'amico G; Cipolli M
Am J Hematol; 2018 Aug; 93(4):527-536. PubMed ID: 29285795
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17. Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome.
Warren AJ
Adv Biol Regul; 2018 Jan; 67():109-127. PubMed ID: 28942353
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18. Mechanism of eIF6 release from the nascent 60S ribosomal subunit.
Weis F; Giudice E; Churcher M; Jin L; Hilcenko C; Wong CC; Traynor D; Kay RR; Warren AJ
Nat Struct Mol Biol; 2015 Nov; 22(11):914-9. PubMed ID: 26479198
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19. Radiosensitivity in lymphoblastoid cell lines derived from Shwachman-Diamond syndrome patients.
Morini J; Babini G; Mariotti L; Baiocco G; Nacci L; Maccario C; Rößler U; Minelli A; Savio M; Gomolka M; Kulka U; Ottolenghi A; Danesino C
Radiat Prot Dosimetry; 2015 Sep; 166(1-4):95-100. PubMed ID: 25870433
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20. Immunophenotypic analysis of hematopoiesis in patients suffering from Shwachman-Bodian-Diamond Syndrome.
Mercuri A; Cannata E; Perbellini O; Cugno C; Balter R; Zaccaron A; Tridello G; Pizzolo G; De Bortoli M; Krampera M; Cipolli M; Cesaro S
Eur J Haematol; 2015 Oct; 95(4):308-15. PubMed ID: 25402872
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