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Journal Articles

CD74 Signaling Regulates Inflammatory Stress to Drive Defective Hematopoiesis and Fitness Advantage of Progenitors in RUNX1-Familial Platelet Disorder

Blood (2024) 144 (Supplement 1): 198.

https://doi.org/10.1182/blood-2024-211542

Published: 2024

Journal Articles

SERF1 Is Required for G-CSF Resistance of Start-Codon Mutant ELANE Granulocytic Precursors

Ramesh C Nayak, Lisa Trump, Sana Emberesh, Yarim Lee, Abhishek K Singh, Ashley M Wellendorf, Marshall S. Horwitz, Theodosia A. Kalfa, Carolyn Lutzko, Jose A. Cancelas

Blood (2021) 138 (Supplement 1): 433.

https://doi.org/10.1182/blood-2021-150899

Published: 2021

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

GATA factor mutations in hematologic disease

John D. Crispino, Marshall S. Horwitz

Blood (2017) 129 (15): 2103–2110.

https://doi.org/10.1182/blood-2016-09-687889

Published: 2017

Journal Articles

Expanded Phenotypic and Genetic Heterogeneity in the Clinical Spectrum of FPD-AML: Lymphoid Malignancies and Skin Disorders Are Common Features in Carriers of Germline RUNX1 Mutations

Anna L Brown, PhD, Christopher N Hahn, PhD, Catherine Carmichael, Ella Wilkins, Milena Babic, BMPharBio (Hons), Chan-Eng Chong, PhD, Xiao-Chun Li, Joelle Michaud, Ping Cannon, Nicola Poplawski, MBChB, DipPaed, FRACP, MD, Meryl Altree, Kerry Phillips, Louise Jaensch, Miriam Fine, Andreas W Schreiber, PhD, Jinghua Feng, PhD, Lesley Rawlings, PhD, Cassandra Vakulin, Carolyn Butcher, Richard D'Andrea, PhD, Ian D Lewis, MBBS, PhD FRACP, FRCPA, Nigel Patton, Cecily Forsyth, MBBS, FRACP, FRCPA, Sally Mapp, PhD MD, Helen Mar Fan, Rachel Susman, Sue Morgan, FRACP, FRCPA, MBBS, Julian Cooney, MD, Mark S Currie, MD, Uday R. Popat, MD, Kenneth Bradstock, MBBS, PhD, April D. Sorrell, MD, Carolyn J. Owen, MD MDes(UK), FRCPC, Marshall S Horwitz, MD PhD, Devendra Hiwase, MBBS, FRACP, FRCPA, MD PhD, Alwin Krämer, MD, Stefan Fröhling, MD, Lucy A Godley, MD PhD, Jane E Churpek, MD, Hamish S Scott, BSc, PhD FFSc (RCPA), FAHMS

Blood (2016) 128 (22): 1212.

https://doi.org/10.1182/blood.V128.22.1212.1212

Published: 2016

Journal Articles

Co-Opting the Genetic Redundancy of the Pax Family to Treat PAX5 Mutated Pre-B ALL

Marshall S Horwitz, MD PhD, Matthew R Hart, PhD

Blood (2015) 126 (23): 2445.

https://doi.org/10.1182/blood.V126.23.2445.2445

Published: 2015

Journal Articles

Targeted correction of RUNX1 mutation in FPD patient-specific induced pluripotent stem cells rescues megakaryopoietic defects

Jon P. Connelly, Erika M. Kwon, Yongxing Gao, Niraj S. Trivedi, Abdel G. Elkahloun, Marshall S. Horwitz, Linzhao Cheng, P. Paul Liu

Blood (2014) 124 (12): 1926–1930.

https://doi.org/10.1182/blood-2014-01-550525

Published: 2014

Includes: Supplemental data

Journal Articles

GATA2 deficiency: flesh and blood

Marshall S. Horwitz

Blood (2014) 123 (6): 799–800.

https://doi.org/10.1182/blood-2013-12-539858

Published: 2014

Journal Articles

Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms

Timothy Tidwell, Jeremy Wechsler, Ramesh C. Nayak, Lisa Trump, Stephen J. Salipante, Jerry C. Cheng, Jean Donadieu, Taly Glaubach, Seth J. Corey, H. Leighton Grimes, Carolyn Lutzko, Jose A. Cancelas, Marshall S. Horwitz

Blood (2014) 123 (4): 562–569.

https://doi.org/10.1182/blood-2013-07-513242

Published: 2014

Includes: Supplemental data

Journal Articles

Towards Cell Therapy for FPD/AML with Patient-Specific IPS Cells

Jon P Connelly, Ph.D., Marshall S Horwitz, MD, PhD, Pu Paul Liu, MD, PhD

Blood (2012) 120 (21): 4677.

https://doi.org/10.1182/blood.V120.21.4677.4677

Published: 2012

Journal Articles

Novel Isoforms of Neutrophil Elastase Produced by Neutropenia-Associated Mutations of the Initiation Codon and an Internal Ribosomal Entry Site (IRES) of ELANE

Timothy Tidwell, BS, Jeremy Wechsler, BS, MS, Marshall S Horwitz, MD, PhD

Blood (2012) 120 (21): 9.

https://doi.org/10.1182/blood.V120.21.9.9

Published: 2012

Journal Articles

Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature

Blood (2012) 119 (5): 1283–1291.

https://doi.org/10.1182/blood-2011-08-374363

Published: 2012

Includes: Supplemental data

Journal Articles

GATA2 is a New Predisposition Gene for Familial Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia (AML)

Blood (2010) 116 (21): LBA-3.

https://doi.org/10.1182/blood.V116.21.LBA-3.LBA-3

Published: 2010

Journal Articles

KLHDC8B Is a Novel, Mitotically-Regulated Classical Hodgkin’s Lymphoma Candidate Susceptibility Gene.

Mathew E. Mealiffe, MD, Tomas Kirchhoff, PhD, Peter H. Wiernik, MD, Henry T. Lynch, MD, Masanori Daibata, MD,PhD, Anne-Marie Gerdes, MD, Kenneth Offit, MD, Lynn R. Goldin, PhD, Marshall S. Horwitz, MD,PhD

Blood (2006) 108 (11): 473.

https://doi.org/10.1182/blood.V108.11.473.473

Published: 2006

Journal Articles

A 17q25.3 Duplication Defines a New Dosage-Sensitive Congenital Neutropenia Locus and Implicates SOCS3 as a Candidate Gene for Cases Unexplained by ELA2 Mutation.

Matthew E. Mealiffe, MD, Doan Le, MD, Zhijun Duan, PhD, Helen Papadaki, MD, George Eliopoulos, MD, Raffaele Badolato, MD,PhD, Marshall S. Horwitz, MD,PhD

Blood (2006) 108 (11): 1277.

https://doi.org/10.1182/blood.V108.11.1277.1277

Published: 2006

Journal Articles

Neutropenia-Associated Mutations of PFAAP5, a Novel Protein Mediating Transcriptional Repressor Interaction between Gfi1 and Neutrophil Elastase.

Stephen J. Salipante, BS, Kathleen F. Benson, PhD, Richard E. Person, PhD, Raffaele Badolato, MD,PhD, Marshall S. Horwitz, MD, PhD

Blood (2006) 108 (11): 501.

https://doi.org/10.1182/blood.V108.11.501.501

Published: 2006

Journal Articles

Neutropenia-Associated Mutations in PRDM5, a Novel Epigenetic Regulator of Hematopoiesis.

Zhijun Duan, PhD, Shi Huang, PhD, Richard E. Person, PhD, Raffaele Badolato, MD,PhD, Jean Donadieu, MD,PhD, Marshall S. Horwitz, MD,PhD

Blood (2006) 108 (11): 503.

https://doi.org/10.1182/blood.V108.11.503.503

Published: 2006

Journal Articles

Neutrophil elastase in cyclic and severe congenital neutropenia

Marshall S. Horwitz, Zhijun Duan, Brice Korkmaz, Hu-Hui Lee, Matthew E. Mealiffe, Stephen J. Salipante

Blood (2006) 109 (5): 1817–1824.

https://doi.org/10.1182/blood-2006-08-019166

Published: 2006

NARROW

CD74 Signaling Regulates Inflammatory Stress to Drive Defective Hematopoiesis and Fitness Advantage of Progenitors in RUNX1-Familial Platelet Disorder

SERF1 Is Required for G-CSF Resistance of Start-Codon Mutant ELANE Granulocytic Precursors

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

GATA factor mutations in hematologic disease

Expanded Phenotypic and Genetic Heterogeneity in the Clinical Spectrum of FPD-AML: Lymphoid Malignancies and Skin Disorders Are Common Features in Carriers of Germline RUNX1 Mutations

Co-Opting the Genetic Redundancy of the Pax Family to Treat PAX5 Mutated Pre-B ALL

Targeted correction of RUNX1 mutation in FPD patient-specific induced pluripotent stem cells rescues megakaryopoietic defects

GATA2 deficiency: flesh and blood

Neutropenia-associated ELANE mutations disrupting translation initiation produce novel neutrophil elastase isoforms

Towards Cell Therapy for FPD/AML with Patient-Specific IPS Cells

Novel Isoforms of Neutrophil Elastase Produced by Neutropenia-Associated Mutations of the Initiation Codon and an Internal Ribosomal Entry Site (IRES) of ELANE

Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature

GATA2 is a New Predisposition Gene for Familial Myelodysplastic Syndrome (MDS) and Acute Myeloid Leukemia (AML)

KLHDC8B Is a Novel, Mitotically-Regulated Classical Hodgkin’s Lymphoma Candidate Susceptibility Gene.

A 17q25.3 Duplication Defines a New Dosage-Sensitive Congenital Neutropenia Locus and Implicates SOCS3 as a Candidate Gene for Cases Unexplained by ELA2 Mutation.

Neutropenia-Associated Mutations of PFAAP5, a Novel Protein Mediating Transcriptional Repressor Interaction between Gfi1 and Neutrophil Elastase.

Neutropenia-Associated Mutations in PRDM5, a Novel Epigenetic Regulator of Hematopoiesis.

Neutrophil elastase in cyclic and severe congenital neutropenia

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American Society of Hematology

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ASH Publications

American Society of Hematology

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