186 related articles for article (PubMed ID: 37876306)
21. 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]
22. Shwachman Diamond syndrome: narrow genotypic spectrum and variable clinical features.
Thompson AS; Giri N; Gianferante DM; Jones K; Savage SA; Alter BP; McReynolds LJ
Pediatr Res; 2022 Dec; 92(6):1671-1680. PubMed ID: 35322185
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. Mislocalization or low expression of mutated Shwachman-Bodian-Diamond syndrome protein.
Yamaguchi M; Fujimura K; Kanegane H; Toga-Yamaguchi H; Chopra R; Okamura N
Int J Hematol; 2011 Jul; 94(1):54-62. PubMed ID: 21660439
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. 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]
27. 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]
28. Novel myopathy in a newborn with Shwachman-Diamond syndrome and review of neonatal presentation.
Topa A; Tulinius M; Oldfors A; Hedberg-Oldfors C
Am J Med Genet A; 2016 May; 170A(5):1155-64. PubMed ID: 26866830
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. Structural variation and missense mutation in SBDS associated with Shwachman-Diamond syndrome.
Carvalho CM; Zuccherato LW; Williams CL; Neill NJ; Murdock DR; Bainbridge M; Jhangiani SN; Muzny DM; Gibbs RA; Ip W; Guillerman RP; Lupski JR; Bertuch AA
BMC Med Genet; 2014 Jun; 15():64. PubMed ID: 24898207
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. [Shwachman-Diamond syndrome].
Vinokurova LV; Dubtsova EA; Yashina NI; Shulyatyev IS; Osipenko YV
Ter Arkh; 2014; 86(2):72-5. PubMed ID: 24772512
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Hematologically important mutations: Shwachman-Diamond syndrome.
Costa E; Santos R
Blood Cells Mol Dis; 2008; 40(2):183-4. PubMed ID: 17916435
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. 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]
37. 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]
38. 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]
39. Pregnancy in Shwachman-Diamond syndrome: a novel genetic mutation with minimal consequence.
Horne GA; Chevassut T
BMJ Case Rep; 2012 Nov; 2012():. PubMed ID: 23125299
[TBL] [Abstract][Full Text] [Related]
40. SBDS expression and localization at the mitotic spindle in human myeloid progenitors.
Orelio C; Verkuijlen P; Geissler J; van den Berg TK; Kuijpers TW
PLoS One; 2009 Sep; 4(9):e7084. PubMed ID: 19759903
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
