299 related articles for article (PubMed ID: 33637765)
1. 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
[TBL] [Abstract][Full Text] [Related]
2. 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
[TBL] [Abstract][Full Text] [Related]
3. Predisposition to myeloid malignancies in Shwachman-Diamond syndrome: biological insights and clinical advances.
Reilly CR; Shimamura A
Blood; 2023 Mar; 141(13):1513-1523. PubMed ID: 36542827
[TBL] [Abstract][Full Text] [Related]
4. Uncoupling of GTP hydrolysis from eIF6 release on the ribosome causes Shwachman-Diamond syndrome.
Finch AJ; Hilcenko C; Basse N; Drynan LF; Goyenechea B; Menne TF; González Fernández A; Simpson P; D'Santos CS; Arends MJ; Donadieu J; Bellanné-Chantelot C; Costanzo M; Boone C; McKenzie AN; Freund SM; Warren AJ
Genes Dev; 2011 May; 25(9):917-29. PubMed ID: 21536732
[TBL] [Abstract][Full Text] [Related]
5. Clonal hematopoiesis in the inherited bone marrow failure syndromes.
Tsai FD; Lindsley RC
Blood; 2020 Oct; 136(14):1615-1622. PubMed ID: 32736377
[TBL] [Abstract][Full Text] [Related]
6. Impaired ribosomal subunit association in Shwachman-Diamond syndrome.
Burwick N; Coats SA; Nakamura T; Shimamura A
Blood; 2012 Dec; 120(26):5143-52. PubMed ID: 23115272
[TBL] [Abstract][Full Text] [Related]
7. EFL1 mutations impair eIF6 release to cause Shwachman-Diamond syndrome.
Tan S; Kermasson L; Hoslin A; Jaako P; Faille A; Acevedo-Arozena A; Lengline E; Ranta D; Poirée M; Fenneteau O; Ducou le Pointe H; Fumagalli S; Beaupain B; Nitschké P; Bôle-Feysot C; de Villartay JP; Bellanné-Chantelot C; Donadieu J; Kannengiesser C; Warren AJ; Revy P
Blood; 2019 Jul; 134(3):277-290. PubMed ID: 31151987
[TBL] [Abstract][Full Text] [Related]
8. Defective ribosome assembly in Shwachman-Diamond syndrome.
Wong CC; Traynor D; Basse N; Kay RR; Warren AJ
Blood; 2011 Oct; 118(16):4305-12. PubMed ID: 21803848
[TBL] [Abstract][Full Text] [Related]
9. Shwachman-Diamond Syndrome: Molecular Mechanisms and Current Perspectives.
Bezzerri V; Cipolli M
Mol Diagn Ther; 2019 Apr; 23(2):281-290. PubMed ID: 30413969
[TBL] [Abstract][Full Text] [Related]
10. 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
[TBL] [Abstract][Full Text] [Related]
11. Molecular alterations governing predisposition to myelodysplastic syndromes: Insights from Shwachman-Diamond syndrome.
Shimamura A
Best Pract Res Clin Haematol; 2021 Mar; 34(1):101252. PubMed ID: 33762106
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. In Vivo Senescence in the Sbds-Deficient Murine Pancreas: Cell-Type Specific Consequences of Translation Insufficiency.
Tourlakis ME; Zhang S; Ball HL; Gandhi R; Liu H; Zhong J; Yuan JS; Guidos CJ; Durie PR; Rommens JM
PLoS Genet; 2015 Jun; 11(6):e1005288. PubMed ID: 26057580
[TBL] [Abstract][Full Text] [Related]
14. Heterozygous missense variant in EIF6 gene: A novel form of Shwachman-Diamond syndrome?
Koh AL; Bonnard C; Lim JY; Liew WK; Thoon KC; Thomas T; Ali NAB; Ng AYJ; Tohari S; Phua KB; Venkatesh B; Reversade B; Jamuar SS
Am J Med Genet A; 2020 Sep; 182(9):2010-2020. PubMed ID: 32657013
[TBL] [Abstract][Full Text] [Related]
15. Endocrine evaluation of children with and without Shwachman-Bodian-Diamond syndrome gene mutations and Shwachman-Diamond syndrome.
Myers KC; Rose SR; Rutter MM; Mehta PA; Khoury JC; Cole T; Harris RE
J Pediatr; 2013 Jun; 162(6):1235-40, 1240.e1. PubMed ID: 23305959
[TBL] [Abstract][Full Text] [Related]
16. Mechanisms of leukemic transformation in congenital neutropenia.
Link DC
Curr Opin Hematol; 2019 Jan; 26(1):34-40. PubMed ID: 30431463
[TBL] [Abstract][Full Text] [Related]
17. Ataluren improves myelopoiesis and neutrophil chemotaxis by restoring ribosome biogenesis and reducing p53 levels in Shwachman-Diamond syndrome cells.
Cipolli M; Boni C; Penzo M; Villa I; Bolamperti S; Baldisseri E; Frattini A; Porta G; Api M; Selicato N; Roccia P; Pollutri D; Marinelli Busilacchi E; Poloni A; Caporelli N; D'Amico G; Pegoraro A; Cesaro S; Oyarbide U; Vella A; Lippi G; Corey SJ; Valli R; Polini A; Bezzerri V
Br J Haematol; 2024 Jan; 204(1):292-305. PubMed ID: 37876306
[TBL] [Abstract][Full Text] [Related]
18. 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
[TBL] [Abstract][Full Text] [Related]
19. Non-Diamond Blackfan anemia disorders of ribosome function: Shwachman Diamond syndrome and 5q- syndrome.
Burwick N; Shimamura A; Liu JM
Semin Hematol; 2011 Apr; 48(2):136-43. PubMed ID: 21435510
[TBL] [Abstract][Full Text] [Related]
20. Enhanced p53 Levels Are Involved in the Reduced Mineralization Capacity of Osteoblasts Derived from Shwachman-Diamond Syndrome Subjects.
Frattini A; Bolamperti S; Valli R; Cipolli M; Pinto RM; Bergami E; Frau MR; Cesaro S; Signo M; Bezzerri V; Porta G; Khan AW; Rubinacci A; Villa I
Int J Mol Sci; 2021 Dec; 22(24):. PubMed ID: 34948128
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
