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Select item 41492201.

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 66121112.

Identification of a novel RPS26 nonsense mutation in a Chinese Diamond-Blackfan Anemia patient

Xiaodong Shi, Xiaolan Huang, Yu Zhang, Xiaodai Cui

BMC Med Genet. 2019; 20: 120. Published online 2019 Jul 5. doi: 10.1186/s12881-019-0848-1

PMCID:: PMC6612111

Abstract Article PDF–747K

Select item 111520803.

A naturally occurring canine model of syndromic congenital microphthalmia

Leonardo Murgiano, Esha Banjeree, Cynthia O'Connor, Keiko Miyadera, Petra Werner, Jessica K Niggel, Gustavo D Aguirre, Margret L Casal

G3 (Bethesda) 2024 Jun; 14(6): jkae067. Published online 2024 Apr 29. doi: 10.1093/g3journal/jkae067

PMCID:: PMC11152080

Abstract Article PDF–1.0M

Select item 111477724.

Integrated proteogenomic analysis for inherited bone marrow failure syndrome

Manabu Wakamatsu, Hideki Muramatsu, Hironori Sato, Masaki Ishikawa, Ryo Konno, Daisuke Nakajima, Motoharu Hamada, Yusuke Okuno, Yusuke Kawashima, Asahito Hama, Masafumi Ito, Hideto Iwafuchi, Yoshiyuki Takahashi, Osamu Ohara

Leukemia. 2024; 38(6): 1256–1265. Published online 2024 May 13. doi: 10.1038/s41375-024-02263-1

PMCID:: PMC11147772

Abstract Article PDF–1.4M

Select item 111419225.

Lentivirus-mediated gene therapy corrects ribosomal biogenesis and shows promise for Diamond Blackfan anemia

Yari Giménez, Manuel Palacios, Rebeca Sánchez-Domínguez, Christiane Zorbas, Jorge Peral, Alexander Puzik, Laura Ugalde, Omaira Alberquilla, Mariela Villanueva, Paula Río, Eva Gálvez, Lydie Da Costa, Marion Strullu, Albert Catala, Anna Ruiz-Llobet, Jose Carlos Segovia, Julián Sevilla, Brigitte Strahm, Charlotte M. Niemeyer, Cristina Beléndez, Thierry Leblanc, Denis L.J. Lafontaine, Juan Bueren, Susana Navarro

JCI Insight. 2024 May 22; 9(10): e171650. Published online 2024 May 22. doi: 10.1172/jci.insight.171650

PMCID:: PMC11141922

Abstract Article PDF–6.2M

Select item 107764016.

Perspectives of current understanding and therapeutics of Diamond-Blackfan anemia

Yang Liu, Stefan Karlsson

Leukemia. 2024; 38(1): 1–9. Published online 2023 Nov 16. doi: 10.1038/s41375-023-02082-w

Correction in:: Leukemia. 2024; 38(1): 228.

PMCID:: PMC10776401

Abstract Article PDF–1.3M

Select item 106917527.

Ribosomal protein mutations and cell competition: autonomous and nonautonomous effects on a stress response

Marianthi Kiparaki, Nicholas E Baker

Genetics. 2023 Jul; 224(3): iyad080. Published online 2023 Jun 2. doi: 10.1093/genetics/iyad080

PMCID:: PMC10691752

Abstract Article PDF–594K

Select item 106734318.

A De Novo Frameshift Mutation in RPL5 with Classical Phenotype Abnormalities and Worsening Anemia Diagnosed in a Young Adult—A Case Report and Review of the Literature

Moritz Dorenkamp, Naomi Porret, Miriam Diepold, Alicia Rovó

Medicina (Kaunas) 2023 Nov; 59(11): 1953. Published online 2023 Nov 5. doi: 10.3390/medicina59111953

PMCID:: PMC10673431

Abstract Article PDF–1.6M

Select item 106440679.

Prevalence and clinical expression of germ line predisposition to myeloid neoplasms in adults with marrow hypocellularity

Elisabetta Molteni, Elisa Bono, Anna Gallì, Chiara Elena, Jacqueline Ferrari, Nicolas Fiorelli, Sara Pozzi, Virginia Valeria Ferretti, Martina Sarchi, Ettore Rizzo, Virginia Camilotto, Emanuela Boveri, Mario Cazzola, Luca Malcovati

Blood. 2023 Aug 17; 142(7): 643–657. Published online 2023 May 24. doi: 10.1182/blood.2022019304

PMCID:: PMC10644067

Abstract Article

Select item 1062166510.

Reducing the aneuploid cell burden – cell competition and the ribosome connection

Nicholas E. Baker, Cristina Montagna

Dis Model Mech. 2022 Nov 1; 15(11): dmm049673. Published online 2022 Nov 29. doi: 10.1242/dmm.049673

PMCID:: PMC10621665

Abstract Article

Select item 1062057811.

Engineered human Diamond-Blackfan anemia disease model confirms therapeutic effects of clinically applicable lentiviral vector at single-cell resolution

Yang Liu, Ludwig Schmiderer, Martin Hjort, Stefan Lang, Tyra Bremborg, Anna Rydström, Axel Schambach, Jonas Larsson, Stefan Karlsson

Haematologica. 2023 Nov 1; 108(11): 3095–3109. Published online 2023 May 18. doi: 10.3324/haematol.2022.282068

PMCID:: PMC10620578

Abstract Article PDF–3.5M

Select item 1058138512.

A systematic approach identifies p53-DREAM pathway target genes associated with blood or brain abnormalities

Jeanne Rakotopare, Vincent Lejour, Carla Duval, Eliana Eldawra, Hugues Escoffier, Franck Toledo

Dis Model Mech. 2023 Oct 1; 16(10): dmm050376. Published online 2023 Oct 11. doi: 10.1242/dmm.050376

PMCID:: PMC10581385

Abstract Article

Select item 1057310813.

p53 in the Molecular Circuitry of Bone Marrow Failure Syndromes

Jeanne Rakotopare, Franck Toledo

Int J Mol Sci. 2023 Oct; 24(19): 14940. Published online 2023 Oct 6. doi: 10.3390/ijms241914940

PMCID:: PMC10573108

Abstract Article PDF–1.5M

Select item 1046908014.

The transcriptomic landscape of normal and ineffective erythropoiesis at single-cell resolution

Raymond T. Doty, Christopher G. Lausted, Adam D. Munday, Zhantao Yang, Xiaowei Yan, Changting Meng, Qiang Tian, Janis L. Abkowitz

Blood Adv. 2023 Sep 12; 7(17): 4848–4868. Published online 2023 Jun 27. doi: 10.1182/bloodadvances.2023010382

PMCID:: PMC10469080

Abstract Article PDF–6.9M

Select item 1045208215.

The Molecular and Genetic Mechanisms of Inherited Bone Marrow Failure Syndromes: The Role of Inflammatory Cytokines in Their Pathogenesis

Nozomu Kawashima, Valentino Bezzerri, Seth J. Corey

Biomolecules. 2023 Aug; 13(8): 1249. Published online 2023 Aug 16. doi: 10.3390/biom13081249

PMCID:: PMC10452082

Abstract Article PDF–1.7M

Select item 1033626316.

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

Abstract Article PDF–3.4M

Select item 1028715817.

Haploinsufficiency of the essential gene Rps12 causes defects in erythropoiesis and hematopoietic stem cell maintenance

Virginia Folgado-Marco, Kristina Ames, Jacky Chuen, Kira Gritsman, Nicholas E Baker

eLife. 2023; 12: e69322. Published online 2023 Jun 5. doi: 10.7554/eLife.69322

PMCID:: PMC10287158

Abstract Article PDF–2.3M

Select item 1027317218.

Arginine metabolism regulates human erythroid differentiation through hypusination of eIF5A

Pedro Gonzalez-Menendez, Ira Phadke, Meagan E. Olive, Axel Joly, Julien Papoin, Hongxia Yan, Jérémy Galtier, Jessica Platon, Sun Woo Sophie Kang, Kathy L. McGraw, Marie Daumur, Marie Pouzolles, Taisuke Kondo, Stéphanie Boireau, Franciane Paul, David J. Young, Sylvain Lamure, Raghavendra G. Mirmira, Anupama Narla, Guillaume Cartron, Cynthia E. Dunbar, Myriam Boyer-Clavel, Natalie Porat-Shliom, Valérie Dardalhon, Valérie S. Zimmermann, Marc Sitbon, Thomas E. Dever, Narla Mohandas, Lydie Da Costa, Namrata D. Udeshi, Lionel Blanc, Sandrina Kinet, Naomi Taylor

Blood. 2023 May 18; 141(20): 2520–2536. Published online 2023 Feb 8. doi: 10.1182/blood.2022017584

PMCID:: PMC10273172

Abstract Article

Select item 1026768719.

SATB1 Chromatin Loops Regulate Megakaryocyte/Erythroid Progenitor Expansion by Facilitating HSP70 and GATA1 Induction

Mark C Wilkes, Hee-Don Chae, Vanessa Scanlon, Alma-Martina Cepika, Ethan P Wentworth, Mallika Saxena, Ascia Eskin, Zugen Chen, Bert Glader, Maria Grazia Roncarolo, Stanley F Nelson, Kathleen M Sakamoto

Stem Cells. 2023 Jun; 41(6): 560–569. Published online 2023 Mar 29. doi: 10.1093/stmcls/sxad025

PMCID:: PMC10267687

Abstract Article PDF–3.5M

Select item 1024693420.

Hereditary Myeloid Malignancies

Hind Rafei, Courtney D. DiNardo

Best Pract Res Clin Haematol. Author manuscript; available in PMC 2023 Jun 7.

Published in final edited form as: Best Pract Res Clin Haematol. 2019 Jun; 32(2): 163–176. Published online 2019 May 3. doi: 10.1016/j.beha.2019.05.001

PMCID:: PMC10246934

Abstract Article PDF–153K

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