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Results: 1 to 20 of 114

1.

Altered intracellular localization and mobility of SBDS protein upon mutation in Shwachman-Diamond syndrome.

Orelio C, van der Sluis RM, Verkuijlen P, Nethe M, Hordijk PL, van den Berg TK, Kuijpers TW.

PLoS One. 2011;6(6):e20727. doi: 10.1371/journal.pone.0020727. Epub 2011 Jun 13.

PMID:
21695142
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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. doi: 10.1007/s12185-011-0880-1. Epub 2011 Jun 10.

PMID:
21660439
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

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.

PMID:
15284109
[PubMed - indexed for MEDLINE]
Free Article
5.

Genetic analysis of Shwachman-Diamond syndrome: phenotypic heterogeneity in patients carrying identical SBDS mutations.

Kawakami T, Mitsui T, Kanai M, Shirahata E, Sendo D, Kanno M, Noro M, Endoh M, Hama A, Tono C, Ito E, Tsuchiya S, Igarashi Y, Abukawa D, Hayasaka K.

Tohoku J Exp Med. 2005 Jul;206(3):253-9.

PMID:
15942154
[PubMed - indexed for MEDLINE]
Free Article
6.

The Shwachman-Diamond SBDS protein localizes to the nucleolus.

Austin KM, Leary RJ, Shimamura A.

Blood. 2005 Aug 15;106(4):1253-8. Epub 2005 Apr 28.

PMID:
15860664
[PubMed - indexed for MEDLINE]
Free PMC Article
7.

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
[PubMed - indexed for MEDLINE]
8.

Hematologically important mutations: Shwachman-Diamond syndrome.

Costa E, Santos R.

Blood Cells Mol Dis. 2008 Mar-Apr;40(2):183-4. Epub 2007 Oct 4.

PMID:
17916435
[PubMed - indexed for MEDLINE]
9.

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.

PMID:
23115272
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

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.

PMID:
21803848
[PubMed - indexed for MEDLINE]
Free Article
11.

Breast cancer in a case of Shwachman Diamond syndrome.

Singh SA, Vlachos A, Morgenstern NJ, Ouansafi I, Ip W, Rommens JM, Durie P, Shimamura A, Lipton JM.

Pediatr Blood Cancer. 2012 Nov;59(5):945-6. doi: 10.1002/pbc.24052. Epub 2011 Dec 27.

PMID:
22213587
[PubMed - indexed for MEDLINE]
12.

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. doi: 10.3324/haematol.2011.048462. Epub 2012 Jan 22.

PMID:
22271888
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

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.

PMID:
17475909
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Shwachman-Diamond syndrome.

Shimamura A.

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

PMID:
16822460
[PubMed - indexed for MEDLINE]
15.

Clinical and genetic analyses of presumed Shwachman-Diamond syndrome in Japan.

Taneichi H, Kanegane H, Futatani T, Otsubo K, Nomura K, Sato Y, Hama A, Kojima S, Kohdera U, Nakano T, Hori H, Kawashima H, Inoh Y, Kamizono J, Adachi N, Osugi Y, Mizuno H, Hotta N, Yoneyama H, Nakashima E, Ikegawa S, Miyawaki T.

Int J Hematol. 2006 Jul;84(1):60-2.

PMID:
16867904
[PubMed - indexed for MEDLINE]
16.

Novel SBDS mutations caused by gene conversion in Japanese patients with Shwachman-Diamond syndrome.

Nakashima E, Mabuchi A, Makita Y, Masuno M, Ohashi H, Nishimura G, Ikegawa S.

Hum Genet. 2004 Mar;114(4):345-8. Epub 2004 Jan 29.

PMID:
14749921
[PubMed - indexed for MEDLINE]
17.

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
[PubMed - indexed for MEDLINE]
18.

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.

PMID:
20658628
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

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.

PMID:
19759903
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

Severe Shwachman-Diamond syndrome phenotype caused by compound heterozygous missense mutations in the SBDS gene.

Erdos M, Alapi K, Balogh I, Oroszlán G, Rákóczi E, Sümegi J, Maródi L.

Exp Hematol. 2006 Nov;34(11):1517-21.

PMID:
17046571
[PubMed - indexed for MEDLINE]

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