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Journal Articles

Diamond-Blackfan anemia

Lydie Da Costa, Thierry Leblanc, Narla Mohandas
Journal: Blood
Blood (2020) 136 (11): 1262–1273.
https://doi.org/10.1182/blood.2019000947
Published: 2020
Journal Articles

Congenital dyserythropoietic anemias

Achille Iolascon, Immacolata Andolfo, Roberta Russo
Journal: Blood
Blood (2020) 136 (11): 1274–1283.
https://doi.org/10.1182/blood.2019000948
Published: 2020
Journal Articles

Mutation of Murine Rpl5 reveals a New Model for Diamond Blackfan Anemia Characterized By Defective Erythropoiesis

Philippe Lemay, PhD, Morgan A Jones, MD PhD BS, MS, Fatma Mohamed, Marie-Claude Guyot, Alexander Ludlow, Qing Li, MD, James Douglas Engel, PhD, Renny Franceschi, PhD, Thomas L. Rothstein, MD PhD, Vesa Kaartinen, PhD, Zoha Kibar, PhD, Sharon A Singh, MD
Journal: Blood
Blood (2019) 134 (Supplement_1): 2495.
https://doi.org/10.1182/blood-2019-131526
Published: 2019
Journal Articles

Development of a Severity Score System for Thalassemia Syndromes

Angela Vitrano, PhD, Antonella Meloni, PhD, Walter Addario Pollina, Mehran Karimi, MD, Amal El-Beshlawy, MD, Mahmoud Hajipour, Vito Di Marco, Saqib Hussain Ansari, PhD, Aldo Filosa, Paolo Ricchi, MD PhD, Adriana Ceci, MD, Shahina Daar, MD, Sylvia Titi Titi Singer, MD, J F Borgio, MD, Alessia Pepe, MD, Salvatore Scondotto, Gabriella Dardanoni, Rosario Di Maggio, MD, Massimiliano Sacco, DR, Elliott P. Vichinsky, MD, Aurelio Maggio, MD
Journal: Blood
Blood (2019) 134 (Supplement_1): 2225.
https://doi.org/10.1182/blood-2019-124675
Published: 2019
Journal Articles

A Longitudinal Study in Elderly Patients with Non-Transfusion Dependent Thalassemia (NTDT) Emphasizes the Size of Splenomegaly Predicts Transfusion Requirement Later in Life

Supachai Ekwattanakit, PhDMD, Vip Viprakasit, MD DPhil
Journal: Blood
Blood (2019) 134 (Supplement_1): 2250.
https://doi.org/10.1182/blood-2019-122296
Published: 2019
Journal Articles

Functional Overlap between the SEC23 Paralogs Suggests a Novel Treatment Paradigm for Congenital Dyserythropoietic Anemia Type II

Richard King, MD, Ann Friedman, BS, Zesen Lin, BS, Rami Khoriaty, MD
Journal: Blood
Blood (2019) 134 (Supplement_1): 2221.
https://doi.org/10.1182/blood-2019-129669
Published: 2019
Journal Articles

Mitapivat (AG-348), an Oral PK-R Activator, in Adults with Non-Transfusion Dependent Thalassemia: A Phase 2, Open-Label, Multicenter Study in Progress

Kevin H. M. Kuo, MDMSc,FRCPC, D. Mark Layton, MB BS, Katrin Uhlig, MD MS, Megan Lynch, MSN, NP, Li Liu, PhD, Elliott P. Vichinsky, MD
Journal: Blood
Blood (2019) 134 (Supplement_1): 2249.
https://doi.org/10.1182/blood-2019-123113
Published: 2019
Journal Articles

The CDK6 Inhibitor Palbociclib in Combination with Ruxolitinib Remarkably Improves Myelofibrosis in Murine Models

Golam Mohi, PhD, Avik Dutta, PhD, Dipmoy Nath, PhD, Yue Yang, PhD
Journal: Blood
Blood (2019) 134 (Supplement_1): 4200.
https://doi.org/10.1182/blood-2019-132038
Published: 2019
Journal Articles

Manifestations of Reduced Kidney Function Occur at a Higher Estimated Glomerular Filtration Rate in Sickle Cell Anemia

Santosh L. Saraf, MD, Vimal K. Derebail, MD, Xu Zhang, PhD, Mark T Gladwin, MD, Victor R Gordeuk, MD, Jane A. Little, MD
Journal: Blood
Blood (2019) 134 (Supplement_1): 2268.
https://doi.org/10.1182/blood-2019-124737
Published: 2019
Journal Articles

A Novel Sandwich ELISA to Quantify Erythroferrone in Mouse Serum

Patrick Gutschow, MS, Huiling Han, MD, Gordana Olbina, PhD, Keith Westerman, BS, Eileen Westerman, BS, Marc Ruiz Martinez, PhD, Yelena Ginzburg, MD, Elizabeta Nemeth, PhD, Tomas Ganz, MD PhD, Vaughn Ostland, PhD
Journal: Blood
Blood (2019) 134 (Supplement_1): 2237.
https://doi.org/10.1182/blood-2019-130947
Published: 2019
Journal Articles

An Open-Label, Phase 2 Study of KRT-232, a First-in-Class, Oral Small Molecule Inhibitor of MDM2, for the Treatment of Patients with Myelofibrosis (MF) Who Have Previously Received Treatment with a JAK Inhibitor

Regina Garcia-Delgado, MD, Donal P. McLornan, MB, BCh (Hons), MRCP, PhD FRCPath, László Rejtő, Eric Jourdan, MD, Haifa Kathrin Al-Ali, MD, Andrzej Pluta, MD, Marek Hus, MD PhD, Joanne Ewing, PhDBMBS BSc FRPATH, Irum Khan, MD, Holger Hebart, Philipp J. Jost, MD, Sebastian Grosicki, MD PhD, Wayne M. Rothbaum, Jesse McGreivy, Srdan Verstovsek, MD PhD
Journal: Blood
Blood (2019) 134 (Supplement_1): 2945.
https://doi.org/10.1182/blood-2019-123836
Published: 2019
Journal Articles

Cell-Intrinsic Inflammation Drives Progression from Myelodysplastic Syndromes to Leukemia

Laura Barreyro, PhD, Avery Sampson, BSc, Kathleen Hueneman, Kwangmin Choi, PhD, Susanne Christie, BSc, Dehua Wang, MD, Gang Huang, PhD, Daniel T. Starczynowski, PhD
Journal: Blood
Blood (2019) 134 (Supplement_1): 2983.
https://doi.org/10.1182/blood-2019-127307
Published: 2019
Journal Articles

Untargeted Metabolomics on Dried Blood Spots for the Diagnosis and Clinical Follow up of Rare Hereditary Anemias

Birgit van Dooijeweert, MD, Melissa Broeks, Msc, Judith Jans, PhD, Eduard J. van Beers, MD PhD, Nanda Verhoeven, PhD, Richard van Wijk, PhD, Marije Bartels, MD PhD
Journal: Blood
Blood (2019) 134 (Supplement_1): 3376.
https://doi.org/10.1182/blood-2019-131693
Published: 2019
Journal Articles

Interest of a New Method for Free Plasma Heme Related Species Dosages in Sickle Cell Disease and Beta Thalassemia

Laurent Kiger, Sandia Adypagavane, Laura Bencheikh, PhD, Nicolas Hebert, Stephane Moutereau, MD, Frédéric Galactéros, MD PhD, Michael Marden, PhD, Yves Beuzard, MD, France Pirenne, MD PhD, Pablo Bartolucci, MD PhD
Journal: Blood
Blood (2019) 134 (Supplement_1): 3381.
https://doi.org/10.1182/blood-2019-130600
Published: 2019
Journal Articles

Therapeutic Base Editing of Human Hematopoietic Stem Cells

Jing Zeng, MD, Yuxuan Wu, PhD, Chunyan Ren, PhD, Jasmine Bonanno, Anne H. Shen, Devlin Shea, Jason M Gehrke, PhD, John P Manis, MD, J. Keith Gehrke, Daniel E. Bauer, MD PhD
Journal: Blood
Blood (2019) 134 (Supplement_1): 612.
https://doi.org/10.1182/blood-2019-129173
Published: 2019
Journal Articles

Eltrombopag Improves Erythroid Differentiation in a Human iPSC Model of Diamond Blackfan Anemia

Husam Qanash, MSc, Kaari Linask, Jeanette Beers, Keyvan Keyvanfar, Sara Young-Baird, Waleed Hakami, Richard H. Smith, Jizhong Zou, Andre Larochelle, MD PhD
Journal: Blood
Blood (2019) 134 (Supplement_1): 1214.
https://doi.org/10.1182/blood-2019-121822
Published: 2019
Journal Articles

Pyruvate Kinase Deficiency Cases Mimicking Congenital Dyserythropoietic Anemia

Sule Unal, MD, Tekin Aksu, MD, Cagrı Coskun, MD, Fatma Gumruk, MD
Journal: Blood
Blood (2019) 134 (Supplement_1): 4794.
https://doi.org/10.1182/blood-2019-124272
Published: 2019
Journal Articles

The Novel Role That Nrf2 Plays in Erythropoiesis during Aging

Serge Cedrick Toya Mbiandjeu, Alessandro Mattè, BSc,PhD, Enrica Federti, PhD, Massimiliano Perduca, Immacolata Andolfo, Achille Iolascon, MD PhD, Maria Teresa Valenti, PhD, Arianna Pisani, Luca Dalle Carbonare, MD, Pietro Pucci, Angela Amoresano, Mohandas Narla, DSc, Lucia De Franceschi, MD
Journal: Blood
Blood (2019) 134 (Supplement_1): 3502.
https://doi.org/10.1182/blood-2019-125920
Published: 2019
Journal Articles

Generation and Characterisation of KY1066, a Fully Human Antibody Targeting the Enzymatic Activity of Matriptase-2 for the Treatment of Iron Overload in Beta Thalassemia

Matthew Wake, PhD, Jonathan Papworth, BSc, Luke Bayliss, BSc, Benjamin Grimshaw, PhD, Natalie Rynkiewicz, PhD, Jemima Paterson, BSc, Alicia Poindron, MSc, Erin Spearing, Emily Carter, Robyne Hudson, BSc, Verena Petzer, MD, Amelie Largounez, BSc, Audrey Belot, BSc, Anais Palin, BSc, Igor Theurl, MD PhD, Volker Germaschewski, Delphine Meynard, PhD
Journal: Blood
Blood (2019) 134 (Supplement_1): 3532.
https://doi.org/10.1182/blood-2019-124075
Published: 2019
Journal Articles

Evaluating Luspatercept Responders in the Phase 3, Randomized, Double-Blind, Placebo-Controlled BELIEVE Trial of Luspatercept in Adult Beta-Thalassemia Patients (Pts) Who Require Regular Red Blood Cell (RBC) Transfusions

Vip Viprakasit, Ali Taher, Olivier Hermine, John Porter, Antonio Piga, Kevin H. M. Kuo, MDMSc,FRCPC, Thomas Coates, MD, Ersi Voskaridou, Hong Keng Liew, Silverio Perrotta, Abderrahim Khelif, Antonis Kattamis, Abderrahmane Laadem, Jeevan K. Shetty, Wen-Ling Kuo, Dimana Miteva, Tatiana Zinger, Daniel Sinsimer, Peter G. Linde, Maria Domenica Cappellini, MD
Journal: Blood
Blood (2019) 134 (Supplement_1): 3545.
https://doi.org/10.1182/blood-2019-122685
Published: 2019