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Items: 20

1.

Impaired ribosomal subunit association in Shwachman-Diamond syndrome.

Burwick N, Coats SA, Nakamura T, Shimamura A.

Blood. 2012 Dec 20;120(26):5143-52. doi: 10.1182/blood-2012-04-420166. Epub 2012 Oct 31.

2.

Draft consensus guidelines for diagnosis and treatment of Shwachman-Diamond syndrome.

Dror Y, Donadieu J, Koglmeier J, Dodge J, Toiviainen-Salo S, Makitie O, Kerr E, Zeidler C, Shimamura A, Shah N, Cipolli M, Kuijpers T, Durie P, Rommens J, Siderius L, Liu JM.

Ann N Y Acad Sci. 2011 Dec;1242:40-55. doi: 10.1111/j.1749-6632.2011.06349.x.

PMID:
22191555
3.

Defective ribosome assembly in Shwachman-Diamond syndrome.

Wong CC, Traynor D, Basse N, Kay RR, Warren AJ.

Blood. 2011 Oct 20;118(16):4305-12. doi: 10.1182/blood-2011-06-353938. Epub 2011 Jul 29.

4.

Pluripotent stem cell models of Shwachman-Diamond syndrome reveal a common mechanism for pancreatic and hematopoietic dysfunction.

Tulpule A, Kelley JM, Lensch MW, McPherson J, Park IH, Hartung O, Nakamura T, Schlaeger TM, Shimamura A, Daley GQ.

Cell Stem Cell. 2013 Jun 6;12(6):727-36. doi: 10.1016/j.stem.2013.04.002. Epub 2013 Apr 18.

5.

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 1;25(9):917-29. doi: 10.1101/gad.623011.

6.

Shwachman-Diamond syndrome: a review of the clinical presentation, molecular pathogenesis, diagnosis, and treatment.

Burroughs L, Woolfrey A, Shimamura A.

Hematol Oncol Clin North Am. 2009 Apr;23(2):233-48. doi: 10.1016/j.hoc.2009.01.007. Review.

7.

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. doi: 10.1053/j.seminhematol.2011.01.002. Review.

8.

Clinical and molecular pathophysiology of Shwachman-Diamond syndrome: an update.

Myers KC, Davies SM, Shimamura A.

Hematol Oncol Clin North Am. 2013 Feb;27(1):117-28, ix. doi: 10.1016/j.hoc.2012.10.003. Epub 2012 Nov 3. Review.

9.

Impaired growth, hematopoietic colony formation, and ribosome maturation in human cells depleted of Shwachman-Diamond syndrome protein SBDS.

Sezgin G, Henson AL, Nihrane A, Singh S, Wattenberg M, Alard P, Ellis SR, Liu JM.

Pediatr Blood Cancer. 2013 Feb;60(2):281-6. doi: 10.1002/pbc.24300. Epub 2012 Sep 19.

PMID:
22997148
10.

Shwachman-Diamond syndrome.

Dall'oca C, Bondi M, Merlini M, Cipolli M, Lavini F, Bartolozzi P.

Musculoskelet Surg. 2012 Aug;96(2):81-8. doi: 10.1007/s12306-011-0174-z. Epub 2011 Dec 27. Review.

PMID:
22201042
11.

Classification of and risk factors for hematologic complications in a French national cohort of 102 patients with Shwachman-Diamond syndrome.

Donadieu J, Fenneteau O, Beaupain B, Beaufils S, Bellanger F, Mahlaoui N, Lambilliotte A, Aladjidi N, Bertrand Y, Mialou V, Perot C, Michel G, Fouyssac F, Paillard C, Gandemer V, Boutard P, Schmitz J, Morali A, Leblanc T, Bellanné-Chantelot C; Associated investigators of the French Severe Chronic Neutropenia Registry*.

Haematologica. 2012 Sep;97(9):1312-9. Epub 2012 Apr 4.

12.
13.

Mutations in SBDS are associated with Shwachman-Diamond syndrome.

Boocock GR, Morrison JA, Popovic M, Richards N, Ellis L, Durie PR, Rommens JM.

Nat Genet. 2003 Jan;33(1):97-101. Epub 2002 Dec 23.

PMID:
12496757
14.

Mesenchymal stem cells from Shwachman-Diamond syndrome patients display normal functions and do not contribute to hematological defects.

André V, Longoni D, Bresolin S, Cappuzzello C, Dander E, Galbiati M, Bugarin C, Di Meglio A, Nicolis E, Maserati E, Serafini M, Warren AJ, Te Kronnie G, Cazzaniga G, Sainati L, Cipolli M, Biondi A, D'Amico G.

Blood Cancer J. 2012 Oct 12;2:e94. doi: 10.1038/bcj.2012.40.

15.

Shwachman-Diamond Syndrome: are we missing many?

Kathuria R, Poddar U, Yachha SK.

Indian Pediatr. 2012 Sep;49(9):748-9.

16.

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. doi: 10.1053/j.gastro.2012.04.012. Epub 2012 Apr 14.

PMID:
22510201
17.

Molecular characteristics of a pancreatic adenocarcinoma associated with Shwachman-Diamond syndrome.

Dhanraj S, Manji A, Pinto D, Scherer SW, Favre H, Loh ML, Chetty R, Wei AC, Dror Y.

Pediatr Blood Cancer. 2013 May;60(5):754-60. doi: 10.1002/pbc.24453. Epub 2013 Jan 9.

PMID:
23303473
18.

Shwachman-Diamond syndrome: diarrhea, no longer required?

Andolina JR, Morrison CB, Thompson AA, Chaudhury S, Mack AK, Proytcheva M, Corey SJ.

J Pediatr Hematol Oncol. 2013 Aug;35(6):486-9. doi: 10.1097/MPH.0b013e3182667c13.

19.

Incidence of Shwachman-Diamond syndrome.

Minelli A, Nicolis E, Cannioto Z, Longoni D, Perobelli S, Pasquali F, Sainati L, Poli F, Cipolli M, Danesino C.

Pediatr Blood Cancer. 2012 Dec 15;59(7):1334-5. doi: 10.1002/pbc.24260. Epub 2012 Aug 8. No abstract available.

PMID:
22887728
20.

Shwachman-Diamond Syndrome.

Myers K.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Mefford HC, Stephens K, Amemiya A, Ledbetter N, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017.
2008 Jul 17 [updated 2014 Sep 11].

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