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Select item 93204531.

A Comparative Molecular Dynamics Study of Selected Point Mutations in the Shwachman–Bodian–Diamond Syndrome Protein SBDS

Elena Spinetti, Pietro Delre, Michele Saviano, Dritan Siliqi, Gianluca Lattanzi, Giuseppe Felice Mangiatordi

Int J Mol Sci. 2022 Jul; 23(14): 7938. Published online 2022 Jul 19. doi: 10.3390/ijms23147938

PMCID:: PMC9320453

Abstract Article PDF–4.8M

Select item 76859702.

Shwachman–Bodian–Diamond syndrome (SBDS) protein is a direct inhibitor of protein phosphatase 2A (PP2A) activity and overexpressed in acute myeloid leukaemia

Matthew D. Dun, Abdul Mannan, Callum J. Rigby, Stephen Butler, Hamish D. Toop, Dominik Beck, Patrick Connerty, Jonathan Sillar, Richard G. S. Kahl, Ryan J. Duchatel, Zacary Germon, Sam Faulkner, Mengna Chi, David Skerrett-Byrne, Heather C. Murray, Hayley Flanagan, Juhura G. Almazi, Hubert Hondermarck, Brett Nixon, Geoff De Iuliis, Janis Chamberlain, Frank Alvaro, Charles E. de Bock, Jonathan C. Morris, Anoop K. Enjeti, Nicole M. Verrills

Leukemia. 2020; 34(12): 3393–3397. Published online 2020 Apr 8. doi: 10.1038/s41375-020-0814-0

PMCID:: PMC7685970

Article PDF–2.3M

Select item 35944513.

Absence of SBDS mutations in sporadic paediatric acute myeloid leukaemia

Anna M. Aalbers, Rodrigo T. Calado, Neal S. Young, C. Michel Zwaan, Sachiko Kajigaya, Andre Baruchel, Karin Geleijns, Valerie de Haas, Gertjan J.L. Kaspers, Dirk Reinhardt, Jan Trka, Taco W. Kuijpers, Rob Pieters, Vincent H.J. van der Velden, Marry M. van den Heuvel-Eibrink

Br J Haematol. Author manuscript; available in PMC 2014 Feb 1.

Published in final edited form as: Br J Haematol. 2013 Feb; 160(4): 559–561. Published online 2012 Nov 28. doi: 10.1111/bjh.12134

PMCID:: PMC3594451

Article PDF–136K

Select item 31138504.

Altered Intracellular Localization and Mobility of SBDS Protein upon Mutation in Shwachman-Diamond Syndrome

Claudia Orelio, Renée M. van der Sluis, Paul Verkuijlen, Micha Nethe, Peter L. Hordijk, Timo K. van den Berg, Taco W. Kuijpers

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

PMCID:: PMC3113850

Abstract Article PDF–984K

Select item 28572065.

Mutations of the Shwachman-Bodian-Diamond syndrome gene in patients presenting with refractory cytopenia – do we have to screen?

Axel Karow, Christian Flotho, Michaela Schneider, Manfred Fliegauf, Charlotte M. Niemeyer

Haematologica. 2010 Apr; 95(4): 689–690. Published online 2009 Nov 30. doi: 10.3324/haematol.2009.015008

PMCID:: PMC2857206

Article PDF–361K

Select item 25980346.

The Shwachman–Bodian–Diamond syndrome gene mutations cause a neonatal form of spondylometaphysial dysplasia (SMD) resembling SMD Sedaghatian type

Gen Nishimura, Eiji Nakashima, Yuichiro Hirose, Trevor Cole, Phillip Cox, Daniel H Cohn, David L Rimoin, Ralph S Lachman, Yoshinari Miyamoto, Bronwyn Kerr, Sheila Unger, Hirofumi Ohashi, Andrea Superti‐Furga, Shiro Ikegawa

J Med Genet. 2007 Apr; 44(4): e73. doi: 10.1136/jmg.2006.043869

PMCID:: PMC2598034

Abstract Article PDF–704K

Select item 22769647.

Some cases of common variable immunodeficiency may be due to a mutation in the SBDS gene of Shwachman–Diamond syndrome

S Khan, J Hinks, J Shorto, M J Schwarz, W A C Sewell

Clin Exp Immunol. 2008 Mar; 151(3): 448–454. doi: 10.1111/j.1365-2249.2007.03556.x

PMCID:: PMC2276964

Abstract Article PDF–204K

Select item 19398978.

Mutations in the SBDS gene in acquired aplastic anemia

Rodrigo T. Calado, Solomon A. Graf, Keisha L. Wilkerson, Sachiko Kajigaya, Philip J. Ancliff, Yigal Dror, Stephen J. Chanock, Peter M. Lansdorp, Neal S. Young

Blood. 2007 Aug 15; 110(4): 1141–1146. Prepublished online 2007 May 3. doi: 10.1182/blood-2007-03-080044

PMCID:: PMC1939897

Abstract Article

Select item 58442879.

Shwachman-Diamond Syndrome Protein SBDS Maintains Human Telomeres by Regulating Telomerase Recruitment

Yi Liu, Feng Liu, Yizhao Cao, Huimin Xu, Yangxiu Wu, Su Wu, Dan Liu, Yong Zhao, Zhou Songyang, Wenbin Ma

Cell Rep. Author manuscript; available in PMC 2018 Mar 9.

Published in final edited form as: Cell Rep. 2018 Feb 13; 22(7): 1849–1860. doi: 10.1016/j.celrep.2018.01.057

PMCID:: PMC5844287

Abstract Article PDF–883K

Select item 450501710.

Defective Guanine Nucleotide Exchange in the Elongation Factor-like 1 (EFL1) GTPase by Mutations in the Shwachman-Diamond Syndrome Protein

Adrián García-Márquez, Abril Gijsbers, Eugenio de la Mora, Nuria Sánchez-Puig

J Biol Chem. 2015 Jul 17; 290(29): 17669–17678. Published online 2015 May 19. doi: 10.1074/jbc.M114.626275

PMCID:: PMC4505017

Abstract Article PDF–1.5M

Select item 353730911.

Impaired ribosomal subunit association in Shwachman-Diamond syndrome

Nicholas Burwick, Scott A. Coats, Tomoka Nakamura, Akiko Shimamura

Blood. 2012 Dec 20; 120(26): 5143–5152. Prepublished online 2012 Oct 31. doi: 10.1182/blood-2012-04-420166

PMCID:: PMC3537309

Abstract Article

Select item 273896512.

SBDS Expression and Localization at the Mitotic Spindle in Human Myeloid Progenitors

Claudia Orelio, Paul Verkuijlen, Judy Geissler, Timo K. van den Berg, Taco W. Kuijpers

PLoS One. 2009; 4(9): e7084. Published online 2009 Sep 17. doi: 10.1371/journal.pone.0007084

PMCID:: PMC2738965

Abstract Article PDF–965K

Select item 226314513.

Mitotic spindle destabilization and genomic instability in Shwachman-Diamond syndrome

Karyn M. Austin, Mohan L. Gupta, Jr., Scott A. Coats, Asmin Tulpule, Gustavo Mostoslavsky, Alejandro B. Balazs, Richard C. Mulligan, George Daley, David Pellman, Akiko Shimamura

J Clin Invest. 2008 Apr 1; 118(4): 1511–1518. Published online 2008 Mar 6. doi: 10.1172/JCI33764

PMCID:: PMC2263145

Abstract Article PDF–993K

Select item 189520314.

The Shwachman-Diamond SBDS protein localizes to the nucleolus

Karyn M. Austin, Rebecca J. Leary, Akiko Shimamura

Blood. 2005 Aug 15; 106(4): 1253–1258. Prepublished online 2005 Apr 28. doi: 10.1182/blood-2005-02-0807

PMCID:: PMC1895203

Abstract Article

Select item 487207515.

Shwachman–Bodian–Diamond syndrome (SBDS) protein deficiency impairs translation re-initiation from C/EBPα and C/EBPβ mRNAs

Kyungmin In, Mohamad A. Zaini, Christine Müller, Alan J. Warren, Marieke von Lindern, Cornelis F. Calkhoven

Nucleic Acids Res. 2016 May 19; 44(9): 4134–4146. Published online 2016 Jan 13. doi: 10.1093/nar/gkw005

PMCID:: PMC4872075

Abstract Article PDF–2.4M

Select item 487123816.

Mechanism of eIF6 release from the nascent 60S ribosomal subunit

Félix Weis, Emmanuel Giudice, Mark Churcher, Li Jin, Christine Hilcenko, Chi C Wong, David Traynor, Robert R Kay, Alan J Warren

Nat Struct Mol Biol. Author manuscript; available in PMC 2016 May 18.

Published in final edited form as: Nat Struct Mol Biol. 2015 Nov; 22(11): 914–919. Published online 2015 Oct 19. doi: 10.1038/nsmb.3112

PMCID:: PMC4871238

Abstract Article PDF–2.4M

Select item 340982017.

Impaired expression of DICER, DROSHA, SBDS and some microRNAs in mesenchymal stromal cells from myelodysplastic syndrome patients

Carlos Santamaría, Sandra Muntión, Beatriz Rosón, Belén Blanco, Olga López-Villar, Soraya Carrancio, Fermín M. Sánchez-Guijo, María Díez-Campelo, Stela Alvarez-Fernández, María E. Sarasquete, Javier de las Rivas, Marcos González, Jesús F. San Miguel, María Consuelo del Cañizo

Haematologica. 2012 Aug; 97(8): 1218–1224. doi: 10.3324/haematol.2011.054437

PMCID:: PMC3409820

Abstract Article PDF–1.5M

Select item 632101018.

Interaction of the GTPase Elongation Factor Like-1 with the Shwachman-Diamond Syndrome Protein and Its Missense Mutations

Abril Gijsbers, Diana Carolina Montagut, Alfonso Méndez-Godoy, Davide Altamura, Michele Saviano, Dritan Siliqi, Nuria Sánchez-Puig

Int J Mol Sci. 2018 Dec; 19(12): 4012. Published online 2018 Dec 12. doi: 10.3390/ijms19124012

PMCID:: PMC6321010

Abstract Article PDF–7.7M

Select item 197583519.

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

Karthik A. Ganapathi, Karyn M. Austin, Chung-Sheng Lee, Anusha Dias, Maggie M. Malsch, Robin Reed, Akiko Shimamura

Blood. 2007 Sep 1; 110(5): 1458–1465. Prepublished online 2007 May 2. doi: 10.1182/blood-2007-02-075184

PMCID:: PMC1975835

Abstract Article

Select item 708387720.

Dual regulation of p53 by the ribosome maturation factor SBDS

Qian Hao, Jieqiong Wang, Yajie Chen, Shanshan Wang, Mingming Cao, Hua Lu, Xiang Zhou

Cell Death Dis. 2020 Mar; 11(3): 197. Published online 2020 Mar 20. doi: 10.1038/s41419-020-2393-4

PMCID:: PMC7083877

Abstract Article PDF–2.8M

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