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Journal Articles

Eif6 Dosage Alleviates Activation of the Tp53 Pathway in Sbds-Deficient Cells: A Mechanism for Somatic Genetic Rescue in Shwachman-Diamond Syndrome

Usua Oyarbide, Valentino Bezzerri, Morgan Staton, Christian Boni, Arish Shah, Marco Cipolli, Eliezer Calo, Seth J Corey

Blood (2024) 144 (Supplement 1): 4090.

https://doi.org/10.1182/blood-2024-209812

Published: 2024

Journal Articles

Loss of EFL1 Which Causes a Shwachman-Diamond Syndrome Reduces Cell Proliferation and Alters Transcriptional Profiling during Neutrophil Differentiation

Nozomu Kawashima, Usua Oyarbide, Seth J Corey

Blood (2023) 142 (Supplement 1): 2729.

https://doi.org/10.1182/blood-2023-187549

Published: 2023

Journal Articles

Stag2a or Stag2b Knockout Zebrafish Are Viable, Yet Loss of Stag2a Is Associated with Abnormal Expression of Early and Late Myeloid and Lymphoid Markers

Rebecca A Anderson, Usua Oyarbide, Seth J Corey

Blood (2023) 142 (Supplement 1): 5708.

https://doi.org/10.1182/blood-2023-191014

Published: 2023

Journal Articles

Small-Molecule U2 Auxiliary Factor Homology Motif (UHM) Domain Inhibitors Cause Splicing Pattern Changes in U2AF1 Mutant Leukemia Cells and Induce Sub-G1 Cell Cycle Arrest

Chao-Yie Yang, Xinrui Yuan, Mona Kazemi Sabzvar, Arda Durmaz, Krishnapriya Chinnaswamy, Jeanne Stuckey, Seth J Corey, Jaroslaw P. Maciejewski, Valeria Visconte

Blood (2023) 142 (Supplement 1): 115.

https://doi.org/10.1182/blood-2023-190365

Published: 2023

Journal Articles

Somatic Genetic Rescue Involving CSF3R and Other Novel Phosphothyrosine Kinase Receptor Mutations Occurring in Myeloid Malignancies

Serhan Unlu, Christopher Haddad, Danai Dima, Tariq Kewan, Olisaemeka Ogbue, Waled Bahaj, Carlos Bravo-Perez, Luca Guarnera, Yasuo Kubota, Hetty E. Carraway, Carmelo Gurnari, Seth J Corey, Hrishikesh Mukesh Mehta, Valeria Visconte, Jaroslaw P. Maciejewski

Blood (2023) 142 (Supplement 1): 3219.

https://doi.org/10.1182/blood-2023-187151

Published: 2023

Journal Articles

Deletion of efl1 in Zebrafish Recapitulates the Spectrum of Shwachman-Diamond Syndrome

Nozomu Kawashima, Rebecca Anderson, Seth J. Corey, Usua Oyarbide Cuervas-Mons

Blood (2022) 140 (Supplement 1): 2597–2598.

https://doi.org/10.1182/blood-2022-163748

Published: 2022

Journal Articles

Deletion of eif6 Partially Rescues Survival, but Not Neutropenia, of Zebrafish Model of Shwachman-Diamond Syndrome: The Roles of Sbds and Eif6 in Perturbing Lipid Metabolism

Usua Oyarbide Cuervas-Mons, Valentino Bezzerri, Rebecca Anderson, Christian Boni, Marco Cipolli, Matthew Snyderman, Seth J. Corey

Blood (2022) 140 (Supplement 1): 1407.

https://doi.org/10.1182/blood-2022-163462

Published: 2022

Journal Articles

ANKRD26 Coding Variants in Myeloid Neoplasia

Teodora Kuzmanovic, Metis Hasipek, Samuel Li, Thomas Laframboise, Valeria Visconte, Sunisa Kongkiatkamon, Seth J. Corey, Sudipto Mukherjee, Anjali Advani, Aaron T. Gerds, Yogenthiran Saunthararajah, Sophia R. Balderman, Abhay Singh Singh, Hetty E. Carraway, Niroshan Nadarajah, Manja Meggendorfer, Jaroslaw P. Maciejewski, Bhumika J. Patel

Blood (2022) 140 (Supplement 1): 4013–4015.

https://doi.org/10.1182/blood-2022-170645

Published: 2022

Journal Articles

No Cardiomyopathy or Skeletal Muscle Weakness in an Organismal Model of Barth Syndrome - Is Metabolism the Basis for Its Neutropenia?

Usua Oyarbide Cuervas-Mons, Jillian Kodger, Sofia del Rio, Yana Sandlers, Seth J. Corey

Blood (2022) 140 (Supplement 1): 5472.

https://doi.org/10.1182/blood-2022-162648

Published: 2022

Journal Articles

Lymphocyte Cytosolic Protein 1 I232F Mutation Impairs Granulocytic Proliferation with a G2/M Block in Severe Neutropenia

Upendra Mahat, Bhavuk Garg, Hrishikesh M Mehta, Heesun J. Rogers, Andrei Ivanov, Chao-Yie Yang, Aron Flagg, Seth J. Corey

Blood (2021) 138 (Supplement 1): 434.

https://doi.org/10.1182/blood-2021-152781

Published: 2021

Journal Articles

Dynamin-2 Deficiency Causes Neutropenia and Dysplastic Bone Marrow Changes in an Age and Sex Dependent Manner in Mice

Alexander Willis, Seth J. Corey, Carlos A. Murga-Zamalloa, Saman Karimi, Karam Khaddour, Elizabeth A. Eklund, Yolande Chen

Blood (2021) 138 (Supplement 1): 992.

https://doi.org/10.1182/blood-2021-154010

Published: 2021

Journal Articles

MDS-Associated Splicing Factor Mutations Promote Alternative Splicing of a Differentiation-Impaired CSF3R Isoform

Borwyn Wang, Hrishikesh M Mehta, Seth J. Corey

Blood (2021) 138 (Supplement 1): 3128.

https://doi.org/10.1182/blood-2021-153285

Published: 2021

Journal Articles

Germline and Somatic Variants of CSF3R Define Distinct Myeloid Neoplasia Syndromes

Tariq Kewan, Hrishikesh M Mehta, Carmelo Gurnari, Waled Bahaj, Simona Pagliuca, Suresh Kumar Balasubramanian, Bhumika J. Patel, Anjali Advani, Valeria Visconte, Hetty E. Carraway, Seth J. Corey, Jaroslaw P. Maciejewski

Blood (2021) 138 (Supplement 1): 3667.

https://doi.org/10.1182/blood-2021-152546

Published: 2021

Journal Articles

Impact of Pathogenic Germ Line Variants in Adults with Acquired Bone Marrow Failure Syndromes Vs . Myeloid Neoplasia

Misam Zawit, MBBS, Jibran Durrani, MD, Wenyi Shen, MD, Vera Adema, PhD, Cassandra M Kerr, MS, Hassan Awada, MD, Sunisa Kongkiatkamon, MD, Carmelo Gurnari, MD, Simona Pagliuca, MD, Laila Terkawi, Bhumika J. Patel, MD, Valeria Visconte, PhD, Hetty E. Carraway, MD MBA, Thomas LaFramboise, PhD, Seth J. Corey, MD, Torsten Haferlach, MD, Jaroslaw P. Maciejewski, MD PhD

Blood (2020) 136 (Supplement 1): 1.

https://doi.org/10.1182/blood-2020-142586

Published: 2020

Journal Articles

The Genomic Landscape of Myeloid Neoplasms Evolved from AA/PNH

Carmelo Gurnari, MD, Simona Pagliuca, MD, Bhumika J. Patel, MD, Hassan Awada, MD, Cassandra M Kerr, MS, Wenyi Shen, MD, Sunisa Kongkiatkamon, MD, Laila Terkawi, Misam Zawit, MBBS, Jibran Durrani, MD, Valeria Visconte, PhD, Seth J. Corey, MD, Maria Teresa Voso, MD, Hetty E. Carraway, MD MBA, Jaroslaw P. Maciejewski, MD PhD

Blood (2020) 136 (Supplement 1): 2.

https://doi.org/10.1182/blood-2020-140045

Published: 2020

Journal Articles

FA Gene Carrier Status Predisposes to Myeloid Neoplasms and Bone Marrow Failure in Adults

Jibran Durrani, Hassan Awada, MD, Wenyi Shen, MD, Cassandra M Kerr, MS, Vera Adema, PhD, Sunisa Kongkiatkamon, Ashwin Kishtagari, MBBS, Samuel Li, Yasunobu Nagata, MD PhD, Sanghee Hong, MD, Aziz Nazha, MD, Bhumika J. Patel, MD, Yogenthiran Saunthararajah, MD, Hetty E. Carraway, MD MBA, Valeria Visconte, PhD, Seth J. Corey, MD, Mikkael A. Sekeres, MD MS, Thomas Laframboise, PhD, Jaroslaw P. Maciejewski, MD PhD

Blood (2019) 134 (Supplement_1): 452.

https://doi.org/10.1182/blood-2019-130142

Published: 2019

Journal Articles

Inducible Expression of Mutant ELANE Correlates with Disruption of Differentiation Program, but Not the Unfolded Protein Response

Bhavuk Garg, PhD, Hrishikesh M Mehta, PhD, Ralph Kamel, Marshall S. Horwitz, MD PhD, Seth J. Corey, MD

Blood (2019) 134 (Supplement_1): 103.

https://doi.org/10.1182/blood-2019-127409

Published: 2019

Journal Articles

Expression of Human SBDS R126T in S bds Null Background Shows Eif6 Dysregulation: An Adult Zebrafish Model for Shwachman-Diamond Syndrome

Usua Oyarbide Cuervas-Mons, PhD MSc, BSc, Matthew Snyderman, MSc, Jacek Topczewski, PhD, Seth J. Corey, MD

Blood (2019) 134 (Supplement_1): 3737.

https://doi.org/10.1182/blood-2019-129014

Published: 2019

Journal Articles

Effect of the Unfolded Protein Response and Oxidative Stress on Mutagenesis of CSF3R a Model of Evolution of Severe Congenital Neutropenia to Myelodysplastic Syndrome/Acute Myeloid Leukemia

Adya Sapra, MS, Roman Jaksik, PhD, Sara Biesiadny, Hrishikesh M Mehta, PhD, Marek Kimmel, PhD DSc, Seth J. Corey, MD

Blood (2019) 134 (Supplement_1): 3752.

https://doi.org/10.1182/blood-2019-127401

Published: 2019

Journal Articles

Predicting Minimal Residual Disease in Acute Myeloid Leukemia through Stochastic Modeling of Clonality

Khanh Dinh, Roman Jaksik, PhD, Marek Kimmel, PhD DSc, Seth J. Corey, MD

Blood (2019) 134 (Supplement_1): 1448.

https://doi.org/10.1182/blood-2019-127457

Published: 2019

NARROW

Eif6 Dosage Alleviates Activation of the Tp53 Pathway in Sbds-Deficient Cells: A Mechanism for Somatic Genetic Rescue in Shwachman-Diamond Syndrome

Loss of EFL1 Which Causes a Shwachman-Diamond Syndrome Reduces Cell Proliferation and Alters Transcriptional Profiling during Neutrophil Differentiation

Stag2a or Stag2b Knockout Zebrafish Are Viable, Yet Loss of Stag2a Is Associated with Abnormal Expression of Early and Late Myeloid and Lymphoid Markers

Small-Molecule U2 Auxiliary Factor Homology Motif (UHM) Domain Inhibitors Cause Splicing Pattern Changes in U2AF1 Mutant Leukemia Cells and Induce Sub-G1 Cell Cycle Arrest

Somatic Genetic Rescue Involving CSF3R and Other Novel Phosphothyrosine Kinase Receptor Mutations Occurring in Myeloid Malignancies

Deletion of efl1 in Zebrafish Recapitulates the Spectrum of Shwachman-Diamond Syndrome

Deletion of eif6 Partially Rescues Survival, but Not Neutropenia, of Zebrafish Model of Shwachman-Diamond Syndrome: The Roles of Sbds and Eif6 in Perturbing Lipid Metabolism

ANKRD26 Coding Variants in Myeloid Neoplasia

No Cardiomyopathy or Skeletal Muscle Weakness in an Organismal Model of Barth Syndrome - Is Metabolism the Basis for Its Neutropenia?

Lymphocyte Cytosolic Protein 1 I232F Mutation Impairs Granulocytic Proliferation with a G2/M Block in Severe Neutropenia

Dynamin-2 Deficiency Causes Neutropenia and Dysplastic Bone Marrow Changes in an Age and Sex Dependent Manner in Mice

MDS-Associated Splicing Factor Mutations Promote Alternative Splicing of a Differentiation-Impaired CSF3R Isoform

Germline and Somatic Variants of CSF3R Define Distinct Myeloid Neoplasia Syndromes

Impact of Pathogenic Germ Line Variants in Adults with Acquired Bone Marrow Failure Syndromes Vs . Myeloid Neoplasia

The Genomic Landscape of Myeloid Neoplasms Evolved from AA/PNH

FA Gene Carrier Status Predisposes to Myeloid Neoplasms and Bone Marrow Failure in Adults

Inducible Expression of Mutant ELANE Correlates with Disruption of Differentiation Program, but Not the Unfolded Protein Response

Expression of Human SBDS R126T in S bds Null Background Shows Eif6 Dysregulation: An Adult Zebrafish Model for Shwachman-Diamond Syndrome

Effect of the Unfolded Protein Response and Oxidative Stress on Mutagenesis of CSF3R a Model of Evolution of Severe Congenital Neutropenia to Myelodysplastic Syndrome/Acute Myeloid Leukemia

Predicting Minimal Residual Disease in Acute Myeloid Leukemia through Stochastic Modeling of Clonality

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American Society of Hematology

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American Society of Hematology

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