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Journal Articles

Breakthroughs in Preclinical Development of Ataluren (PTC124) As Therapeutic Option for Patients Affected By Shwachman-Diamond Syndrome: Towards the First Clinical Trial

Valentino Bezzerri, PhD, Antonio Vella, PhD, Elisabetta D'Aversa, PhD, Martina Api, PhD, Marisole Allegri, MSc, Elena Marinelli Busilacchi, PhD, Giovanna D'Amico, BSc, PhD MSc, Roberto Gambari, PhD, Claudio Sorio, MD PhD, Benedetta Fabrizzi, MD, Vincenzo Bronte, MD, Antonella Poloni, PhD MD, Monica Borgatti, PhD, Marco Cipolli, MD

Blood (2019) 134 (Supplement_1): 451.

https://doi.org/10.1182/blood-2019-127866

Published: 2019

Journal Articles

Quantitative Changes in Serum Proteins Including CXCL13 Are Early Indicators of Response to Anti-IL6 Therapy in Idiopathic Multicentric Castleman Disease

Sheila K Pierson, MS, Laura Katz, MA, Christopher Sheild Nabel, MD PhD, Jason R Ruth, PhD, Sheila Diamond, MS, CGC, Hrishikesh Karvir, PhD, Fanyi Zhang, MS, Manjula P Reddy, MS, MSc, Mary Guilfoyle, MS, Craig Tendler, MD, Frits van Rhee, MD PhD, Philip Beineke, MS, Ana B Oromendia, PhD, David C Fajgenbaum, MDMBA,MSc

Blood (2019) 134 (Supplement_1): 3599.

https://doi.org/10.1182/blood-2019-128284

Published: 2019

Journal Articles

Germinal Predisposition in Myelodysplastic Syndromes in Young Adults without a Preexisting Disorder or Organ Dysfunction: Identification of Deleterious Variants in Microsatellite Instability Genes

Blood (2019) 134 (Supplement_1): 4226.

https://doi.org/10.1182/blood-2019-127204

Published: 2019

Journal Articles

The Role of microRNAs in the Pathogenesis of Erdheim-Chester Disease and Their Potential Use As Biomarkers for Diagnosis and Prognosis of the Disease

Ran Weissman, MSc, Nir Pilar, MD, Benjamin H Durham, MD BS, Michelle Ki, BSc, Roei D Mazor, MD, Omar I Abdel-Wahab, MD, Noam Shomron, PhD, Ofer Shpilberg, MD MPH, Eli L Diamond, MD, Oshrat Rokah, PhD

Blood (2018) 132 (Supplement 1): 2397.

https://doi.org/10.1182/blood-2018-99-112388

Published: 2018

Journal Articles

Epidemiological Study of Aplastic Anemia in Algeria for 844 Cases over 10 Years (2007-2016)

Blood (2018) 132 (Supplement 1): 5109.

https://doi.org/10.1182/blood-2018-99-114094

Published: 2018

Journal Articles

Jak-2 and Nfkbia G ene Expression Play a Strategic Role in Chronic Myeloid Leukemia (CML) Molecular Response during Early Nilotinib Treatment: The PhilosoPhi34 Data

Blood (2018) 132 (Supplement 1): 5118.

https://doi.org/10.1182/blood-2018-99-113273

Published: 2018

Journal Articles

HMGB1 As a Novel Platelet Agonist That Acts Synergistically with ADP to Activate Platelets in Sickle Cell Disease

Deirdre Nolfi-Donegan, MD, Sruti Shiva, PhD, Cheryl A Hillery, MD

Blood (2018) 132 (Supplement 1): 1073.

https://doi.org/10.1182/blood-2018-99-110269

Published: 2018

Journal Articles

Haploidentical Transplantation Using High Dose Post-Transplant Cyclophosphamide for Patients with Aplastic Anemia : The European Group for Blood and Marrow Transplantation Experience

Blood (2018) 132 (Supplement 1): 486.

https://doi.org/10.1182/blood-2018-99-114033

Published: 2018

Journal Articles

Mutation-Specific Dose Reduction in Functional SRP54 Protein Causes Isolated or Syndromic Neutropenia with Shwachman-Diamond-like Features

Martina Konantz, PhD, Christoph Schürch, MSc, Joelle S. Müller, MSc, Jonas Schärer, BSc, Raphael Carapito, PhD, Seiamak Bahram, MD, Claudia Lengerke, MD

Blood (2018) 132 (Supplement 1): 1300.

https://doi.org/10.1182/blood-2018-99-118927

Published: 2018

Journal Articles

Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome

Blood (2018) 132 (12): 1318–1331.

https://doi.org/10.1182/blood-2017-12-820308

Published: 2018

Includes: Supplemental data

Journal Articles

Frequency and Evolution of TP53 Mutant Clones in Shwachman Diamond Syndrome. a Cohort Study from the French Severe Chronic Neutropenia (SCN) Registry

Blood (2017) 130 (Supplement 1): 780.

https://doi.org/10.1182/blood.V130.Suppl_1.780.780

Published: 2017

Journal Articles

Ribosome Biogenesis Controls Erythroid Differentiation Via a p53-Dependent Transcriptional Checkpoint and Its Limitation By RPS14 Haploinsufficiency Results in Selective Defects in Translation

Ismael Boussaid, PharmD, Salome Le Goff, PhDstudent, Celia Floquet, Post-doc, Anna Raimbault, PharmD, PhD, Charlotte Andrieu-Soler, Emilie-fleur Gautier, PhD, Olivier Kosmider, Isabelle Hatin, PhD, Mohandas Narla, DSc, Eric Soler, PhD, Patrick Mayeux, PhD, Michaela Fontenay, MD PhD

Blood (2017) 130 (Supplement 1): 83.

https://doi.org/10.1182/blood.V130.Suppl_1.83.83

Published: 2017

Journal Articles

Mutations in SRP54 Gene Cause Severe Primary Neutropenia As Well As Shwachman-Diamond-like Syndrome

Blood (2017) 130 (Supplement 1): LBA-3.

https://doi.org/10.1182/blood.V130.Suppl_1.LBA-3.LBA-3

Published: 2017

Journal Articles

Starvation Stress in the Sbds -Null Zebrafish: Implications for Human Shwachman-Diamond Syndrome

Usua Oyarbide, PhD, Wilmer Amaya-Mejia, BS, Michael Waters, BS, Jacek Topczewski, PhD, Seth Corey, MD

Blood (2017) 130 (Supplement 1): 2459.

https://doi.org/10.1182/blood.V130.Suppl_1.2459.2459

Published: 2017

Journal Articles

LDL and HDL Have Opposing Effects on VWF Self-Association

Forrest D Nussdorfer, BS, Nikita Taparia, BS, Shirin Feghhi, Alexander E St. John, MD, José A. López, MD, Dominic W. Chung, PhD

Blood (2017) 130 (Supplement 1): 3601.

https://doi.org/10.1182/blood.V130.Suppl_1.3601.3601

Published: 2017

Journal Articles

Inherited bone marrow failure syndromes: considerations pre- and posttransplant

Blanche P. Alter

Blood (2017) 130 (21): 2257–2264.

https://doi.org/10.1182/blood-2017-05-781799

Published: 2017

Journal Articles

Modeling Bone Marrow Failure and MDS in Shwachman Diamond Syndrome Using Induced Pluripotent Stem Cells

Melisa Ruiz-Gutierrez, MD PhD, Ozge Vargel Bolukbasi, PhD, Linda Vo, Ryohichi Sugimura, MD PhD, Marilyn Sanchez Bonilla, MS, Andriana Kotini, PhD, Carl D. Novina, MD PhD, George Q. Daley, MD PhD, Eirini P. Papapetrou, MD PhD, Akiko Shimamura, MD PhD

Blood (2016) 128 (22): 1496.

https://doi.org/10.1182/blood.V128.22.1496.1496

Published: 2016

Journal Articles

Higher Myocardial and Skeletal Muscle Microvascular Flow in Sickle Cell Disease Patients on Hydroxyurea

Caterina P. Minniti, MD, Vandana Sachdev, MD, Hannoush Hwaida, MD, Stanislav Sidenko, MD, Myron A Waclawiw, MD, Brenneman Cyndy, MD, Andrew E Arai, MD, Gregory J. Kato, MD, Jonathan R. Lindner, MD

Blood (2016) 128 (22): 1020.

https://doi.org/10.1182/blood.V128.22.1020.1020

Published: 2016

Journal Articles

Gene Disruption of Zebrafish Sbds Phenocopies Human Shwachman-Diamond Syndrome but Suggests More Global and Lineage Defects

Usua Oyarbide, PhD, Margaret J Kell, Javier Farinas, BS, Jacek Topczewski, PhD, Seth Corey, MD MPH

Blood (2016) 128 (22): 336.

https://doi.org/10.1182/blood.V128.22.336.336

Published: 2016

Journal Articles

LSD1 Inhibition Induces Fetal Hemoglobin Expression and Provides a Novel Therapeutic Approach to Sickle Cell Disease

Blood (2016) 128 (22): 2472.

https://doi.org/10.1182/blood.V128.22.2472.2472

Published: 2016

NARROW

Breakthroughs in Preclinical Development of Ataluren (PTC124) As Therapeutic Option for Patients Affected By Shwachman-Diamond Syndrome: Towards the First Clinical Trial

Quantitative Changes in Serum Proteins Including CXCL13 Are Early Indicators of Response to Anti-IL6 Therapy in Idiopathic Multicentric Castleman Disease

Germinal Predisposition in Myelodysplastic Syndromes in Young Adults without a Preexisting Disorder or Organ Dysfunction: Identification of Deleterious Variants in Microsatellite Instability Genes

The Role of microRNAs in the Pathogenesis of Erdheim-Chester Disease and Their Potential Use As Biomarkers for Diagnosis and Prognosis of the Disease

Epidemiological Study of Aplastic Anemia in Algeria for 844 Cases over 10 Years (2007-2016)

Jak-2 and Nfkbia G ene Expression Play a Strategic Role in Chronic Myeloid Leukemia (CML) Molecular Response during Early Nilotinib Treatment: The PhilosoPhi34 Data

HMGB1 As a Novel Platelet Agonist That Acts Synergistically with ADP to Activate Platelets in Sickle Cell Disease

Haploidentical Transplantation Using High Dose Post-Transplant Cyclophosphamide for Patients with Aplastic Anemia : The European Group for Blood and Marrow Transplantation Experience

Mutation-Specific Dose Reduction in Functional SRP54 Protein Causes Isolated or Syndromic Neutropenia with Shwachman-Diamond-like Features

Mutations in the SRP54 gene cause severe congenital neutropenia as well as Shwachman-Diamond–like syndrome

Frequency and Evolution of TP53 Mutant Clones in Shwachman Diamond Syndrome. a Cohort Study from the French Severe Chronic Neutropenia (SCN) Registry

Ribosome Biogenesis Controls Erythroid Differentiation Via a p53-Dependent Transcriptional Checkpoint and Its Limitation By RPS14 Haploinsufficiency Results in Selective Defects in Translation

Mutations in SRP54 Gene Cause Severe Primary Neutropenia As Well As Shwachman-Diamond-like Syndrome

Starvation Stress in the Sbds -Null Zebrafish: Implications for Human Shwachman-Diamond Syndrome

LDL and HDL Have Opposing Effects on VWF Self-Association

Inherited bone marrow failure syndromes: considerations pre- and posttransplant

Modeling Bone Marrow Failure and MDS in Shwachman Diamond Syndrome Using Induced Pluripotent Stem Cells

Higher Myocardial and Skeletal Muscle Microvascular Flow in Sickle Cell Disease Patients on Hydroxyurea

Gene Disruption of Zebrafish Sbds Phenocopies Human Shwachman-Diamond Syndrome but Suggests More Global and Lineage Defects

LSD1 Inhibition Induces Fetal Hemoglobin Expression and Provides a Novel Therapeutic Approach to Sickle Cell Disease

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American Society of Hematology

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