242 related articles for article (PubMed ID: 21062271)
1. Do ribosomopathies explain some cases of common variable immunodeficiency?
Khan S; Pereira J; Darbyshire PJ; Holding S; Doré PC; Sewell WA; Huissoon A
Clin Exp Immunol; 2011 Jan; 163(1):96-103. PubMed ID: 21062271
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. Ribosomal protein mutations induce autophagy through S6 kinase inhibition of the insulin pathway.
Heijnen HF; van Wijk R; Pereboom TC; Goos YJ; Seinen CW; van Oirschot BA; van Dooren R; Gastou M; Giles RH; van Solinge W; Kuijpers TW; Gazda HT; Bierings MB; Da Costa L; MacInnes AW
PLoS Genet; 2014; 10(5):e1004371. PubMed ID: 24875531
[TBL] [Abstract][Full Text] [Related]
4. Genetic analysis of inherited bone marrow failure syndromes from one prospective, comprehensive and population-based cohort and identification of novel mutations.
Tsangaris E; Klaassen R; Fernandez CV; Yanofsky R; Shereck E; Champagne J; Silva M; Lipton JH; Brossard J; Michon B; Abish S; Steele M; Ali K; Dower N; Athale U; Jardine L; Hand JP; Odame I; Canning P; Allen C; Carcao M; Beyene J; Roifman CM; Dror Y
J Med Genet; 2011 Sep; 48(9):618-28. PubMed ID: 21659346
[TBL] [Abstract][Full Text] [Related]
5. The genomics of inherited bone marrow failure: from mechanism to the clinic.
Wegman-Ostrosky T; Savage SA
Br J Haematol; 2017 May; 177(4):526-542. PubMed ID: 28211564
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. [Anemia in children].
Muramatsu H; Kojima S
Nihon Rinsho; 2008 Mar; 66(3):544-7. PubMed ID: 18326324
[TBL] [Abstract][Full Text] [Related]
8. Ribosomal biogenesis genes play an essential and p53-independent role in zebrafish pancreas development.
Provost E; Wehner KA; Zhong X; Ashar F; Nguyen E; Green R; Parsons MJ; Leach SD
Development; 2012 Sep; 139(17):3232-41. PubMed ID: 22872088
[TBL] [Abstract][Full Text] [Related]
9. Inherited bone marrow failure syndromes in adolescents and young adults.
Wilson DB; Link DC; Mason PJ; Bessler M
Ann Med; 2014 Sep; 46(6):353-63. PubMed ID: 24888387
[TBL] [Abstract][Full Text] [Related]
10. Some cases of common variable immunodeficiency may be due to a mutation in the SBDS gene of Shwachman-Diamond syndrome.
Khan S; Hinks J; Shorto J; Schwarz MJ; Sewell WA
Clin Exp Immunol; 2008 Mar; 151(3):448-54. PubMed ID: 18190602
[TBL] [Abstract][Full Text] [Related]
11. Comparative analysis of Shwachman-Diamond syndrome to other inherited bone marrow failure syndromes and genotype-phenotype correlation.
Hashmi SK; Allen C; Klaassen R; Fernandez CV; Yanofsky R; Shereck E; Champagne J; Silva M; Lipton JH; Brossard J; Samson Y; Abish S; Steele M; Ali K; Dower N; Athale U; Jardine L; Hand JP; Beyene J; Dror Y
Clin Genet; 2011 May; 79(5):448-58. PubMed ID: 20569259
[TBL] [Abstract][Full Text] [Related]
12. [Two cases of Shwachman-Diamond syndrome with genetic confirmation and literature review].
Shen J; Lin K; An Y; Wu YM; Qiao ZW; Yu H; Zhu QR; Zhang T
Zhonghua Er Ke Za Zhi; 2013 Sep; 51(9):679-83. PubMed ID: 24330988
[TBL] [Abstract][Full Text] [Related]
13. Diagnosis, Treatment, and Molecular Pathology of Shwachman-Diamond Syndrome.
Nelson AS; Myers KC
Hematol Oncol Clin North Am; 2018 Aug; 32(4):687-700. PubMed ID: 30047420
[TBL] [Abstract][Full Text] [Related]
14. 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]
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
[TBL] [Abstract][Full Text] [Related]
16. Immune status of patients with inherited bone marrow failure syndromes.
Giri N; Alter BP; Penrose K; Falk RT; Pan Y; Savage SA; Williams M; Kemp TJ; Pinto LA
Am J Hematol; 2015 Aug; 90(8):702-8. PubMed ID: 25963299
[TBL] [Abstract][Full Text] [Related]
17. Ribosome biogenesis in skeletal development and the pathogenesis of skeletal disorders.
Trainor PA; Merrill AE
Biochim Biophys Acta; 2014 Jun; 1842(6):769-78. PubMed ID: 24252615
[TBL] [Abstract][Full Text] [Related]
18. Deficiency of Sbds in the mouse pancreas leads to features of Shwachman-Diamond syndrome, with loss of zymogen granules.
Tourlakis ME; Zhong J; Gandhi R; Zhang S; Chen L; Durie PR; Rommens JM
Gastroenterology; 2012 Aug; 143(2):481-92. PubMed ID: 22510201
[TBL] [Abstract][Full Text] [Related]
19. Clinical spectrum and molecular pathophysiology of Shwachman-Diamond syndrome.
Huang JN; Shimamura A
Curr Opin Hematol; 2011 Jan; 18(1):30-5. PubMed ID: 21124213
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]