248 related articles for article (PubMed ID: 27146429)
1. Evaluation of energy metabolism and calcium homeostasis in cells affected by Shwachman-Diamond syndrome.
Ravera S; Dufour C; Cesaro S; Bottega R; Faleschini M; Cuccarolo P; Corsolini F; Usai C; Columbaro M; Cipolli M; Savoia A; Degan P; Cappelli E
Sci Rep; 2016 May; 6():25441. PubMed ID: 27146429
[TBL] [Abstract][Full Text] [Related]
2. 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
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. Mitochondrial function is impaired in yeast and human cellular models of Shwachman Diamond syndrome.
Henson AL; Moore JB; Alard P; Wattenberg MM; Liu JM; Ellis SR
Biochem Biophys Res Commun; 2013 Jul; 437(1):29-34. PubMed ID: 23792098
[TBL] [Abstract][Full Text] [Related]
6. Deletion of Mitochondrial Porin Alleviates Stress Sensitivity in the Yeast Model of Shwachman-Diamond Syndrome.
Kanprasoet W; Jensen LT; Sriprach S; Thitiananpakorn K; Rattanapornsompong K; Jensen AN
J Genet Genomics; 2015 Dec; 42(12):671-84. PubMed ID: 26743985
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. 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]
9. 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]
10. Translational medicine: ribosomopathies.
Narla A; Ebert BL
Blood; 2011 Oct; 118(16):4300-1. PubMed ID: 22021450
[No Abstract] [Full Text] [Related]
11. Shwachman-Bodian-Diamond syndrome (SBDS) protein deficiency impairs translation re-initiation from C/EBPα and C/EBPβ mRNAs.
In K; Zaini MA; Müller C; Warren AJ; von Lindern M; Calkhoven CF
Nucleic Acids Res; 2016 May; 44(9):4134-46. PubMed ID: 26762974
[TBL] [Abstract][Full Text] [Related]
12. Sixth International Congress on Shwachman-Diamond syndrome: from patients to genes and back.
Liu JM; Lipton JM; Mani S
Ann N Y Acad Sci; 2011 Dec; 1242():26-39. PubMed ID: 22191554
[TBL] [Abstract][Full Text] [Related]
13. The ribosome-related protein, SBDS, is critical for normal erythropoiesis.
Sen S; Wang H; Nghiem CL; Zhou K; Yau J; Tailor CS; Irwin MS; Dror Y
Blood; 2011 Dec; 118(24):6407-17. PubMed ID: 21963601
[TBL] [Abstract][Full Text] [Related]
14. The Greek Registry of Shwachman Diamond-Syndrome: Molecular and clinical data.
Delaporta P; Sofocleous C; Economou M; Makis A; Kostaridou S; Kattamis A
Pediatr Blood Cancer; 2017 Nov; 64(11):. PubMed ID: 28509441
[TBL] [Abstract][Full Text] [Related]
15. eIF6 anti-association activity is required for ribosome biogenesis, translational control and tumor progression.
Brina D; Miluzio A; Ricciardi S; Biffo S
Biochim Biophys Acta; 2015 Jul; 1849(7):830-5. PubMed ID: 25252159
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. Shwachman-Diamond syndromes: clinical, genetic, and biochemical insights from the rare variants.
Kawashima N; Oyarbide U; Cipolli M; Bezzerri V; Corey SJ
Haematologica; 2023 Oct; 108(10):2594-2605. PubMed ID: 37226705
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. Mesenchymal stromal cells from Shwachman-Diamond syndrome patients fail to recreate a bone marrow niche in vivo and exhibit impaired angiogenesis.
Bardelli D; Dander E; Bugarin C; Cappuzzello C; Pievani A; Fazio G; Pierani P; Corti P; Farruggia P; Dufour C; Cesaro S; Cipolli M; Biondi A; D'Amico G
Br J Haematol; 2018 Jul; 182(1):114-124. PubMed ID: 29767474
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
