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Select item 39727851.

Ribosomal protein mutations in Korean patients with Diamond-Blackfan anemia

Hyojin Chae, Joonhong Park, Seungok Lee, Myungshin Kim, Yonggoo Kim, Jae-Wook Lee, Nack-Gyun Chung, Bin Cho, Dae Chul Jeong, Jiyeon Kim, Jung Rok Kim, Geon Park

Exp Mol Med. 2014 Mar; 46(3): e88. Published online 2014 Mar 28. doi: 10.1038/emm.2013.159

PMCID:: PMC3972785

Abstract Article PDF–752K

Select item 42153102.

Marrow failure: a window into ribosome biology

Davide Ruggero, Akiko Shimamura

Blood. 2014 Oct 30; 124(18): 2784–2792. Prepublished online 2014 Sep 18. doi: 10.1182/blood-2014-04-526301

PMCID:: PMC4215310

Abstract Article

Select item 41619733.

A RanGTP-independent mechanism allows ribosomal protein nuclear import for ribosome assembly

Sabina Schütz, Ute Fischer, Martin Altvater, Purnima Nerurkar, Cohue Peña, Michaela Gerber, Yiming Chang, Stefanie Caesar, Olga T Schubert, Gabriel Schlenstedt, Vikram G Panse

eLife. 2014; 3: e03473. Published online 2014 Aug 21. doi: 10.7554/eLife.03473

PMCID:: PMC4161973

Abstract Article PDF–3.5M

Select item 41492204.

Diamond-Blackfan Anemia with Mandibulofacial Dystostosis is Heterogeneous, Including the Novel DBA Genes TSR2 and RPS28

Karen W. Gripp, Cynthia Curry, Ann Haskins Olney, Claudio Sandoval, Jamie Fisher, Jessica Xiao-Ling Chong, UW Center for Mendelian Genomics, Lisa Pilchman, Rebecca Sahraoui, Deborah L. Stabley, Katia Sol-Church

Am J Med Genet A. Author manuscript; available in PMC 2015 Sep 1.

Published in final edited form as: Am J Med Genet A. 2014 Sep; 164(9): 2240–2249. Published online 2014 Jun 18. doi: 10.1002/ajmg.a.36633

PMCID:: PMC4149220

Abstract Article PDF–308K

Select item 41492155.

High-Throughput Transcriptome Sequencing Identifies Candidate Genetic Modifiers of Vulnerability to Fetal Alcohol Spectrum Disorders

Ana Garic, Mark E. Berres, Susan M. Smith

Alcohol Clin Exp Res. Author manuscript; available in PMC 2015 Jul 1.

Published in final edited form as: Alcohol Clin Exp Res. 2014 Jul; 38(7): 1874–1882. Published online 2014 Jun 24. doi: 10.1111/acer.12457

PMCID:: PMC4149215

Abstract Article PDF–1.1M

Select item 41253516.

Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families

Lisa Mirabello, Elizabeth R. Macari, Lea Jessop, Steven R. Ellis, Timothy Myers, Neelam Giri, Alison M. Taylor, Katherine E. McGrath, Jessica M. Humphries, Bari J. Ballew, Meredith Yeager, Joseph F. Boland, Ji He, Belynda D. Hicks, Laurie Burdett, Blanche P. Alter, Leonard Zon, Sharon A. Savage

Blood. 2014 Jul 3; 124(1): 24–32. Prepublished online 2014 May 14. doi: 10.1182/blood-2013-11-540278

PMCID:: PMC4125351

Abstract Article

Select item 41067077.

The central core region of yeast ribosomal protein L11 is important for subunit joining and translational fidelity

Michael H. J. Rhodin, Rasa Rakauskaitė, Jonathan D. Dinman

Mol Genet Genomics. Author manuscript; available in PMC 2014 Jul 22.

Published in final edited form as: Mol Genet Genomics. 2011 Jun; 285(6): 505–516. Published online 2011 Apr 26. doi: 10.1007/s00438-011-0623-2

PMCID:: PMC4106707

Abstract Article PDF–1.3M

Select item 41027148.

Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia

Katelyn E. Gagne, Roxanne Ghazvinian, Daniel Yuan, Rebecca L. Zon, Kelsie Storm, Magdalena Mazur-Popinska, Laura Andolina, Halina Bubala, Sydonia Golebiowska, Meghan A. Higman, Krzysztof Kalwak, Peter Kurre, Michal Matysiak, Edyta Niewiadomska, Salley Pels, Mary Jane Petruzzi, Aneta Pobudejska-Pieniazek, Tomasz Szczepanski, Mark D. Fleming, Hanna T. Gazda, Suneet Agarwal

Blood. 2014 Jul 17; 124(3): 437–440. Prepublished online 2014 Apr 15. doi: 10.1182/blood-2014-01-545830

PMCID:: PMC4102714

Abstract Article

Select item 41027059.

Pearson syndrome in a Diamond-Blackfan anemia cohort

Blanche P. Alter

Blood. 2014 Jul 17; 124(3): 312–313. doi: 10.1182/blood-2014-04-571687

PMCID:: PMC4102705

Abstract Article

Select item 408704610.

Altered translation of GATA1 in Diamond-Blackfan anemia

Leif S. Ludwig, Hanna T. Gazda, Jennifer C. Eng, Stephen W. Eichhorn, Prathapan Thiru, Roxanne Ghazvinian, Tracy I. George, Jason R. Gotlib, Alan H. Beggs, Colin A. Sieff, Harvey F. Lodish, Eric S. Lander, Vijay G. Sankaran

Nat Med. Author manuscript; available in PMC 2015 Jan 1.

Published in final edited form as: Nat Med. 2014 Jul; 20(7): 748–753. Published online 2014 Jun 22. doi: 10.1038/nm.3557

PMCID:: PMC4087046

Abstract Article PDF–1.1M

Select item 407269311.

Nom1 Mediates Pancreas Development by Regulating Ribosome Biogenesis in Zebrafish

Wei Qin, Zelin Chen, Yihan Zhang, Ruibin Yan, Guanrong Yan, Song Li, Hanbing Zhong, Shuo Lin

PLoS One. 2014; 9(6): e100796. Published online 2014 Jun 26. doi: 10.1371/journal.pone.0100796

PMCID:: PMC4072693

Abstract Article PDF–885K

Select item 405875112.

Dissecting the transcriptional phenotype of ribosomal protein deficiency: implications for Diamond-Blackfan Anemia

Anna Aspesi, Elisa Pavesi, Elisa Robotti, Rossella Crescitelli, Ilenia Boria, Federica Avondo, Hélène Moniz, Lydie Da Costa, Narla Mohandas, Paola Roncaglia, Ugo Ramenghi, Antonella Ronchi, Stefano Gustincich, Simone Merlin, Emilio Marengo, Steven R. Ellis, Antonia Follenzi, Claudio Santoro, Irma Dianzani

Gene. 2014 Jul 25; 545(2): 282–289. doi: 10.1016/j.gene.2014.04.077

PMCID:: PMC4058751

Abstract Article

Select item 403848513.

Ribosomal Protein Mutations Induce Autophagy through S6 Kinase Inhibition of the Insulin Pathway

Harry F. Heijnen, Richard van Wijk, Tamara C. Pereboom, Yvonne J. Goos, Cor W. Seinen, Brigitte A. van Oirschot, Rowie van Dooren, Marc Gastou, Rachel H. Giles, Wouter van Solinge, Taco W. Kuijpers, Hanna T. Gazda, Marc B. Bierings, Lydie Da Costa, Alyson W. MacInnes

PLoS Genet. 2014 May; 10(5): e1004371. Published online 2014 May 29. doi: 10.1371/journal.pgen.1004371

PMCID:: PMC4038485

Abstract Article PDF–9.0M

Select item 402071214.

Ribosome Biogenesis in Skeletal Development and the Pathogenesis of Skeletal Disorders

Paul A Trainor, Amy E Merrill

Biochim Biophys Acta. Author manuscript; available in PMC 2015 Jun 1.

Published in final edited form as: Biochim Biophys Acta. 2014 Jun; 1842(6): 769–778. Published online 2013 Nov 16. doi: 10.1016/j.bbadis.2013.11.010

PMCID:: PMC4020712

Abstract Article PDF–936K

Select item 422779815.

Ribosomal stress activates eEF2K–eEF2 pathway causing translation elongation inhibition and recruitment of Terminal Oligopyrimidine (TOP) mRNAs on polysomes

Angelo Gismondi, Sara Caldarola, Gaia Lisi, Giada Juli, Lidia Chellini, Valentina Iadevaia, Christopher G. Proud, Fabrizio Loreni

Nucleic Acids Res. 2014 Nov 10; 42(20): 12668–12680. Published online 2014 Oct 20. doi: 10.1093/nar/gku996

PMCID:: PMC4227798

Abstract Article PDF–2.7M

Select item 389305716.

Mysterious Ribosomopathies

Kathleen L. McCann, Susan J. Baserga

Science. Author manuscript; available in PMC 2014 Jan 15.

Published in final edited form as: Science. 2013 Aug 23; 341(6148): 849–850. doi: 10.1126/science.1244156

PMCID:: PMC3893057

Abstract Article PDF–247K

Select item 387514217.

The Inherited Bone Marrow Failure Syndromes

S. Deborah Chirnomas, Gary M Kupfer

Pediatr Clin North Am. Author manuscript; available in PMC 2014 Dec 1.

Published in final edited form as: Pediatr Clin North Am. 2013 Dec; 60(6): 10.1016/j.pcl.2013.09.007. doi: 10.1016/j.pcl.2013.09.007

PMCID:: PMC3875142

Abstract Article PDF–74K

Select item 384974918.

VarRanker: rapid prioritization of sequence variations associated with human disease

Brendan D O'Fallon, Whitney Wooderchak-Donahue, Pinar Bayrak-Toydemir, David Crockett

BMC Bioinformatics. 2013; 14(Suppl 13): S1. Published online 2013 Oct 1. doi: 10.1186/1471-2105-14-S13-S1

PMCID:: PMC3849749

Abstract Article PDF–716K

Select item 383537019.

Genomic Characterization of the Inherited Bone Marrow Failure Syndromes

Payal P. Khincha, Sharon A. Savage

Semin Hematol. Author manuscript; available in PMC 2014 Oct 1.

Published in final edited form as: Semin Hematol. 2013 Oct; 50(4): 10.1053/j.seminhematol.2013.09.002. doi: 10.1053/j.seminhematol.2013.09.002

PMCID:: PMC3835370

Abstract Article PDF–885K

Select item 379787420.

Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond-Blackfan anemia

Michael Landowski, Marie-Françoise O’Donohue, Christopher Buros, Roxanne Ghazvinian, Nathalie Montel-Lehry, Adrianna Vlachos, Colin A. Sieff, Peter E. Newburger, Edyta Niewiadomska, Michal Matysiak, Bertil Glader, Eva Atsidaftos, Jeffrey M. Lipton, Alan H. Beggs, Pierre-Emmanuel Gleizes, Hanna T. Gazda

Hum Genet. Author manuscript; available in PMC 2014 Nov 1.

Published in final edited form as: Hum Genet. 2013 Nov; 132(11): 1265–1274. Published online 2013 Jun 30. doi: 10.1007/s00439-013-1326-z

PMCID:: PMC3797874

Abstract Article PDF–1.1M

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