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Items: 1 to 20 of 105

1.

Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome.

Austin KM, Gupta ML Jr, Coats SA, Tulpule A, Mostoslavsky G, Balazs AB, Mulligan RC, Daley G, Pellman D, Shimamura A.

J Clin Invest. 2008 Apr;118(4):1511-8. doi: 10.1172/JCI33764.

2.

The human Shwachman-Diamond syndrome protein, SBDS, associates with ribosomal RNA.

Ganapathi KA, Austin KM, Lee CS, Dias A, Malsch MM, Reed R, Shimamura A.

Blood. 2007 Sep 1;110(5):1458-65. Epub 2007 May 2.

3.

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 17;4(9):e7084. doi: 10.1371/journal.pone.0007084.

4.

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.

5.

Spindle microtubule dysfunction and cancer predisposition.

Stumpff J, Ghule PN, Shimamura A, Stein JL, Greenblatt M.

J Cell Physiol. 2014 Dec;229(12):1881-3. doi: 10.1002/jcp.24691.

6.

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.

7.

Mitochondrial function is impaired in yeast and human cellular models of Shwachman Diamond syndrome.

Henson AL, Moore JB 4th, Alard P, Wattenberg MM, Liu JM, Ellis SR.

Biochem Biophys Res Commun. 2013 Jul 19;437(1):29-34. doi: 10.1016/j.bbrc.2013.06.028. Epub 2013 Jun 19.

PMID:
23792098
8.

SBDS protein expression patterns in the bone marrow.

Wong TE, Calicchio ML, Fleming MD, Shimamura A, Harris MH.

Pediatr Blood Cancer. 2010 Sep;55(3):546-9. doi: 10.1002/pbc.22573.

9.

Clinical spectrum and molecular pathophysiology of Shwachman-Diamond syndrome.

Huang JN, Shimamura A.

Curr Opin Hematol. 2011 Jan;18(1):30-5. doi: 10.1097/MOH.0b013e32834114a5. Review.

10.
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. doi: 10.1053/j.gastro.2012.04.012. Epub 2012 Apr 14.

PMID:
22510201
12.

SBDS-deficient cells undergo accelerated apoptosis through the Fas-pathway.

Rujkijyanont P, Watanabe K, Ambekar C, Wang H, Schimmer A, Beyene J, Dror Y.

Haematologica. 2008 Mar;93(3):363-71. doi: 10.3324/haematol.11579. Epub 2008 Feb 11.

13.

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 9;11(6):e1005288. doi: 10.1371/journal.pgen.1005288. eCollection 2015 Jun.

14.

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 20;42(12):671-84. doi: 10.1016/j.jgg.2015.09.004. Epub 2015 Sep 25.

PMID:
26743985
15.

Shwachman-Diamond syndrome.

Shimamura A.

Semin Hematol. 2006 Jul;43(3):178-88. Review.

PMID:
16822460
16.

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.

17.

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. doi: 10.1016/j.jpeds.2012.11.062. Epub 2013 Jan 8.

PMID:
23305959
18.

Involvement of the telomeric protein Pin2/TRF1 in the regulation of the mitotic spindle.

Nakamura M, Zhou XZ, Kishi S, Lu KP.

FEBS Lett. 2002 Mar 13;514(2-3):193-8.

19.

Shwachman-Bodian Diamond syndrome is a multi-functional protein implicated in cellular stress responses.

Ball HL, Zhang B, Riches JJ, Gandhi R, Li J, Rommens JM, Myers JS.

Hum Mol Genet. 2009 Oct 1;18(19):3684-95. doi: 10.1093/hmg/ddp316. Epub 2009 Jul 14.

20.

Mutations of the SBDS gene are present in most patients with Shwachman-Diamond syndrome.

Woloszynek JR, Rothbaum RJ, Rawls AS, Minx PJ, Wilson RK, Mason PJ, Bessler M, Link DC.

Blood. 2004 Dec 1;104(12):3588-90. Epub 2004 Jul 29.

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