PMC Articles for MedGen (Select 863078) - PMC

Select item 103362631.

Gata1s mutant mice display persistent defects in the erythroid lineage

Te Ling, Kevin Zhang, Jiayue Yang, Sandeep Gurbuxani, John D. Crispino

Blood Adv. 2023 Jul 11; 7(13): 3253–3264. Published online 2022 Nov 11. doi: 10.1182/bloodadvances.2022008124

PMCID:: PMC10336263

Select item 89498722.

GATA-1 Defects in Diamond–Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease

Birgit van Dooijeweert, Sima Kheradmand Kia, Niklas Dahl, Odile Fenneteau, Roos Leguit, Edward Nieuwenhuis, Wouter van Solinge, Richard van Wijk, Lydie Da Costa, Marije Bartels

Genes (Basel) 2022 Mar; 13(3): 447. Published online 2022 Feb 28. doi: 10.3390/genes13030447

PMCID:: PMC8949872

Article PDF–1.7M

Select item 87743893.

Early Onset Colorectal Cancer: An Emerging Cancer Risk in Patients with Diamond Blackfan Anemia

Jeffrey M. Lipton, Christine L. S. Molmenti, Pooja Desai, Alexander Lipton, Steven R. Ellis, Adrianna Vlachos

Genes (Basel) 2022 Jan; 13(1): 56. Published online 2021 Dec 26. doi: 10.3390/genes13010056

PMCID:: PMC8774389

Article PDF–510K

Select item 73697804.

Nonsense Suppression Therapy: New Hypothesis for the Treatment of Inherited Bone Marrow Failure Syndromes

Valentino Bezzerri, Martina Api, Marisole Allegri, Benedetta Fabrizzi, Seth J. Corey, Marco Cipolli

Int J Mol Sci. 2020 Jul; 21(13): 4672. Published online 2020 Jun 30. doi: 10.3390/ijms21134672

PMCID:: PMC7369780

Article PDF–793K

Select item 65805905.

Diamond–Blackfan anemia RPL35A: a case report

Colin Byron Noel

J Med Case Rep. 2019; 13: 185. Published online 2019 Jun 18. doi: 10.1186/s13256-019-2127-3

PMCID:: PMC6580590

Article PDF–907K

Select item 63120126.

Peering through zebrafish to understand inherited bone marrow failure syndromes

Usua Oyarbide, Jacek Topczewski, Seth J. Corey

Haematologica. 2019 Jan; 104(1): 13–24. Prepublished online 2018 Dec 20. doi: 10.3324/haematol.2018.196105

PMCID:: PMC6312012

Article PDF–689K

Select item 58738467.

Ribonuclease inhibitor 1 regulates erythropoiesis by controlling GATA1 translation

Vijaykumar Chennupati, Diogo F.T. Veiga, Kendle M. Maslowski, Nicola Andina, Aubry Tardivel, Eric Chi-Wang Yu, Martina Stilinovic, Cedric Simillion, Michel A. Duchosal, Manfredo Quadroni, Irene Roberts, Vijay G. Sankaran, H. Robson MacDonald, Nicolas Fasel, Anne Angelillo-Scherrer, Pascal Schneider, Trang Hoang, Ramanjaneyulu Allam

J Clin Invest. 2018 Apr 2; 128(4): 1597–1614. Published online 2018 Mar 19. doi: 10.1172/JCI94956

PMCID:: PMC5873846

Article PDF–17M

Select item 50819708.

Expression of ribosomopathy genes during Xenopus tropicalis embryogenesis

Andrew Robson, Nick D. L. Owens, Susan J. Baserga, Mustafa K. Khokha, John N. Griffin

BMC Dev Biol. 2016; 16: 38. Published online 2016 Oct 26. doi: 10.1186/s12861-016-0138-5

PMCID:: PMC5081970

Article PDF–4.0M

Select item 45789409.

Immunophenotypic Profiling of Erythroid Progenitor-Derived Extracellular Vesicles in Diamond-Blackfan Anaemia: A New Diagnostic Strategy

Serena Macrì, Elisa Pavesi, Rossella Crescitelli, Anna Aspesi, Claudia Vizziello, Carlotta Botto, Paola Corti, Paola Quarello, Patrizia Notari, Ugo Ramenghi, Steven Robert Ellis, Irma Dianzani

PLoS One. 2015; 10(9): e0138200. Published online 2015 Sep 22. doi: 10.1371/journal.pone.0138200

PMCID:: PMC4578940

Article PDF–2.2M

Select item 439021710.

Identification and Fine Mapping of Nuclear and Nucleolar Localization Signals within the Human Ribosomal Protein S17

Scott P. Kenney, Xiang-Jin Meng

PLoS One. 2015; 10(4): e0124396. Published online 2015 Apr 8. doi: 10.1371/journal.pone.0124396

PMCID:: PMC4390217

Article PDF–1.6M

Select item 414921511.

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

Article PDF–1.1M

Select item 412535112.

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

Article

Select item 383537013.

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

Article PDF–885K

Select item 318633614.

Reduced ribosomal protein gene dosage and p53 activation in low-risk myelodysplastic syndrome

Kelly A. McGowan, Wendy W. Pang, Rashmi Bhardwaj, Marcelina G. Perez, John V. Pluvinage, Bertil E. Glader, Reem Malek, Susan M. Mendrysa, Irving L. Weissman, Christopher Y. Park, Gregory S. Barsh

Blood. 2011 Sep 29; 118(13): 3622–3633. Prepublished online 2011 Jul 25. doi: 10.1182/blood-2010-11-318584

PMCID:: PMC3186336

Article

Select item 282017715.

Ribosomal Protein Genes RPS10 and RPS26 Are Commonly Mutated in Diamond-Blackfan Anemia

Leana Doherty, Mee Rie Sheen, Adrianna Vlachos, Valerie Choesmel, Marie-Françoise O'Donohue, Catherine Clinton, Hal E. Schneider, Colin A. Sieff, Peter E. Newburger, Sarah E. Ball, Edyta Niewiadomska, Michal Matysiak, Bertil Glader, Robert J. Arceci, Jason E. Farrar, Eva Atsidaftos, Jeffrey M. Lipton, Pierre-Emmanuel Gleizes, Hanna T. Gazda

Am J Hum Genet. 2010 Feb 12; 86(2): 222–228. doi: 10.1016/j.ajhg.2009.12.015

Correction in:: Am J Hum Genet. 2010 Apr 9; 86(4): 655–656.

PMCID:: PMC2820177

Article PDF–326K

Select item 478573916.

Transcriptome analysis reveals a ribosome constituents disorder involved in the RPL5 downregulated zebrafish model of Diamond-Blackfan anemia

Yang Wan, Qian Zhang, Zhaojun Zhang, Binfeng Song, Xiaomin Wang, Yingchi Zhang, Qiong Jia, Tao Cheng, Xiaofan Zhu, Anskar Yu-Hung Leung, Weiping Yuan, Haibo Jia, Xiangdong Fang

BMC Med Genomics. 2016; 9: 13. Published online 2016 Mar 9. doi: 10.1186/s12920-016-0174-9

PMCID:: PMC4785739

Article PDF–1.8M

Select item 331038517.

Hematopoietic defects in rps29 mutant zebrafish depend upon p53 activation

Alison M. Taylor, Jessica M. Humphries, Richard M. White, Ryan D. Murphey, Caroline E. Burns, Leonard I. Zon

Exp Hematol. Author manuscript; available in PMC 2012 Sep 1.

Published in final edited form as: Exp Hematol. 2012 Mar; 40(3): 228–237.e5. Published online 2011 Nov 25. doi: 10.1016/j.exphem.2011.11.007

PMCID:: PMC3310385

Article PDF–2.7M

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 17

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity