BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

454 related articles for article (PubMed ID: 28942353)

  • 1. Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome.
    Warren AJ
    Adv Biol Regul; 2018 Jan; 67():109-127. PubMed ID: 28942353
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. 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]  

  • 4. 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]  

  • 5. Defective Guanine Nucleotide Exchange in the Elongation Factor-like 1 (EFL1) GTPase by Mutations in the Shwachman-Diamond Syndrome Protein.
    García-Márquez A; Gijsbers A; de la Mora E; Sánchez-Puig N
    J Biol Chem; 2015 Jul; 290(29):17669-17678. PubMed ID: 25991726
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. Mutations in
    Stepensky P; Chacón-Flores M; Kim KH; Abuzaitoun O; Bautista-Santos A; Simanovsky N; Siliqi D; Altamura D; Méndez-Godoy A; Gijsbers A; Naser Eddin A; Dor T; Charrow J; Sánchez-Puig N; Elpeleg O
    J Med Genet; 2017 Aug; 54(8):558-566. PubMed ID: 28331068
    [TBL] [Abstract][Full Text] [Related]  

  • 8. 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]  

  • 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. Of blood, bones, and ribosomes: is Swachman-Diamond syndrome a ribosomopathy?
    Johnson AW; Ellis SR
    Genes Dev; 2011 May; 25(9):898-900. PubMed ID: 21536731
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. Guanine nucleotide exchange in the ribosomal GTPase EFL1 is modulated by the protein mutated in the Shwachman-Diamond syndrome.
    Gijsbers A; García-Márquez A; Luviano A; Sánchez-Puig N
    Biochem Biophys Res Commun; 2013 Aug; 437(3):349-54. PubMed ID: 23831625
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 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]  

  • 16. eIF6 rebinding dynamically couples ribosome maturation and translation.
    Jaako P; Faille A; Tan S; Wong CC; Escudero-Urquijo N; Castro-Hartmann P; Wright P; Hilcenko C; Adams DJ; Warren AJ
    Nat Commun; 2022 Mar; 13(1):1562. PubMed ID: 35322020
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Eukaryotic translation initiation factor 6 is a novel regulator of reactive oxygen species-dependent megakaryocyte maturation.
    Ricciardi S; Miluzio A; Brina D; Clarke K; Bonomo M; Aiolfi R; Guidotti LG; Falciani F; Biffo S
    J Thromb Haemost; 2015 Nov; 13(11):2108-18. PubMed ID: 26391622
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Ubiquitin-proteasome-rich cytoplasmic structures in neutrophils of patients with Shwachman-Diamond syndrome.
    Necchi V; Minelli A; Sommi P; Vitali A; Caruso R; Longoni D; Frau MR; Nasi C; De Gregorio F; Zecca M; Ricci V; Danesino C; Solcia E
    Haematologica; 2012 Jul; 97(7):1057-63. PubMed ID: 22271888
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 23.