Page 1 | Search Results | Blood | American Society of Hematology

1-17 of 17

Sort by

Sort Order Select

Journal Articles

Loss of ATG5 in Humans Causes Syndromic Congenital Dyserythropoietic Anemia with Impaired Mitophagy in Late Stages of Terminal Erythropoiesis

Athina Ntoumaziou, Duc Nguyen, Yasmin Elgammal, Ammar Husami, Wenying Zhang, Kaitlin D Weaver, Jennifer L. Kasten, David D. Grier, Yi Zheng, Carolyn Lutzko, Mary Risinger, Jan Frayne, Katie Seu, Theodosia A. Kalfa

Blood (2024) 144 (Supplement 1): 1084.

https://doi.org/10.1182/blood-2024-210280

Published: 2024

Journal Articles

The Dominant Negative Acting VPS4A E228Q Mutation Causes Dyserythropoiesis in Human iPSC-Derived Erythroblast Cultures That Phenocopies Cimdag Syndrome-Associated Anemia

Courtney Gatterdam, Sana Emberesh, Yasmin Elgammal, Carolyn Lutzko, Lionel Blanc, Jose Cancelas, Theodosia A. Kalfa, Katie Seu

Blood (2024) 144 (Supplement 1): 2458.

https://doi.org/10.1182/blood-2024-211628

Published: 2024

Journal Articles

Erythrocyte Disorders Mimicking Congenital Dyserythropoietic Anemia Based on Bone Marrow Pathology Exposed By Genetic Evaluation

Jacopo Ceolan, Katie Seu, Athina Ntoumaziou, Yasmin Elgammal, Sana Emberesh, Lisa Bilston, Donald Richards, Kathryn E. Dickerson, Satheesh Chonat, Natalia Rydz, Carolyn Lutzko, Ammar Husami, Wenying Zhang, Theodosia A. Kalfa

Blood (2023) 142 (Supplement 1): 2459.

https://doi.org/10.1182/blood-2023-189140

Published: 2023

Journal Articles

De Novo Germline DHX38 Variant Associated with Alternative Splicing of Multiple Transcripts in Iron-Related Pathways in a Patient with Atypical Congenital Dyserythropoietic Anemia with Ring Sideroblasts

Aikaterini Voulgaridou, Yasmin Elgammal, Ammar Husami, Sana Emberesh, Katie Seu, Mahesh Ramamoorthy, Lisa Trump, Nathaniel Barasa, Adam S. Nelson, Robert B. Lorsbach, Laurel Romano, Nathan A. Salomonis, Wenying Zhang, Carolyn Lutzko, Theodosia A. Kalfa

Blood (2022) 140 (Supplement 1): 1234–1235.

https://doi.org/10.1182/blood-2022-166509

Published: 2022

Journal Articles

Successful Ex Vivo Telomere Elongation with Exg-001 in a Patient with a Dyskeratosis Congenita

Kasiani C. Myers, Stella M Davies, Carolyn Lutzko, Robin Wahle, Geraldine Aubert, Tomokazu Amano, Misa Amano, Hong Yu, Minoru S.H. Ko

Blood (2022) 140 (Supplement 1): 1895–1896.

https://doi.org/10.1182/blood-2022-164978

Published: 2022

Journal Articles

Safety and Efficacy of Aru-1801 in Patients with Sickle Cell Disease: Early Results from the Phase 1/2 Momentum Study of a Modified Gamma Globin Gene Therapy and Reduced Intensity Conditioning

Michael Grimley, Monika Asnani, Archana Shrestha, Sydney Felker, Carolyn Lutzko, Paritha I. Arumugam, Scott Witting, Jennifer Knight-Madden, Omar Niss, Charles T. Quinn, Chris Lo, Courtney R. Little, Alisa Dong, Punam Malik

Blood (2021) 138 (Supplement 1): 3970.

https://doi.org/10.1182/blood-2021-147469

Published: 2021

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

Early Results from a Phase 1/2 Study of Aru-1801 Gene Therapy for Sickle Cell Disease (SCD): Manufacturing Process Enhancements Improve Efficacy of a Modified Gamma Globin Lentivirus Vector and Reduced Intensity Conditioning Transplant

Michael Grimley, MD, Monika Asnani, PhD, Archana Shrestha, Sydney Felker, Carolyn Lutzko, PhD, Paritha I. Arumugam, PhD, Scott Witting, PhD, Jennifer Knight-Madden, MBBS, PhD, Omar Niss, MD, Charles T. Quinn, MD, Chris Lo, BS, Courtney R Little, BSN, Joseph W. McIntosh, MD, Punam Malik, MD

Blood (2020) 136 (Supplement 1): 20–21.

https://doi.org/10.1182/blood-2020-140963

Published: 2020

Journal Articles

VPS4A mutations Cause a Syndrome with Dyserythropoiesis, Hemolytic Anemia, and Neurodevelopmental Delay

Katie Giger Seu, PhD, Lisa Trump, PhD, Sana Emberesh, MBBS, Robert B. Lorsbach, MD PhD, Clarissa E. Johnson, MD, Jessica Meznarich, MD, Hunter Underhill, MD PhD, Haripriya Sakthivel, Omar Niss, MD, Shannon Nortman, Lionel Blanc, PhD, Wenying Zhang, MD PhD, Carolyn Lutzko, PhD, Theodosia A. Kalfa, MD PhD

Blood (2019) 134 (Supplement_1): 339.

https://doi.org/10.1182/blood-2019-128230

Published: 2019

Journal Articles

Peroxiredoxin II ( PRDX2 ) Is a Novel Candidate Gene for Congenital Dyserythropoietic Anemia

Myesa Emberesh, MBBS, Katie Giger Seu, PhD, Sana Emberesh, MBBS, Lisa Trump, Mary Risinger, PhD, Wenying Zhang, MD PhD, Ammar Husami, Carolyn Lutzko, PhD, Vinod Gidvani-Diaz, Robert B. Lorsbach, MD PhD, Theodosia A. Kalfa, MD PhD

Blood (2018) 132 (Supplement 1): 3605.

https://doi.org/10.1182/blood-2018-99-120056

Published: 2018

Journal Articles

Gene Therapy for Sickle Cell Anemia Using a Modified Gamma Globin Lentivirus Vector and Reduced Intensity Conditioning Transplant Shows Promising Correction of the Disease Phenotype

Blood (2018) 132 (Supplement 1): 1021.

https://doi.org/10.1182/blood-2018-99-119591

Published: 2018

Journal Articles

The First Registry for Patients with Congenital Dyserythropoietic Anemia in North America: Design and Preliminary Results

Blood (2017) 130 (Supplement 1): 2210.

https://doi.org/10.1182/blood.V130.Suppl_1.2210.2210

Published: 2017

Journal Articles

VPS4A : A Novel Candidate Gene for Congenital Dyserythropoietic Anemia

Katie Giger, PhD, Georgios E Christakopoulos, MD, Lisa Trump, Clarissa E. Johnson, MD, Haripriya Sakthivel, Mary Risinger, Omar Niss, MD, Kejian Zhang, MD MBA, Lionel Blanc, PhD, Robert B. Lorsbach, MD PhD, Paritha I. Arumugam, PhD, Carolyn Lutzko, PhD, Theodosia A. Kalfa, MD PhD

Blood (2017) 130 (Supplement 1): 923.

https://doi.org/10.1182/blood.V130.Suppl_1.923.923

Published: 2017

Journal Articles

Innovative Hematopoietic Gene-Therapy Concepts for Hereditary Pulmonary Alveolar Proteinosis Utilizing Hematopoietic Stem Cell Derived Macrophages

Nico Lachmann, PhD, Christine Happle, MD, Takuji Suzuki, MD, Miriam Hetzel, Kevin A. Link, PhD, Adele Mucci, Paritha Arumugam, PhD, Jens Bankstahl, PhD, Dagmar Dilloo, MD, Punam Malik, MD, Carolyn Lutzko, PhD, Axel Schambach, MD PhD, Bruce Colston Trapnell, MD, Gesine Hansen, MD, Thomas Moritz, MD

Blood (2015) 126 (23): 4417.

https://doi.org/10.1182/blood.V126.23.4417.4417

Published: 2015

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

Myelopoiesis From Induced Pluripotent Stem Cells Reveals The Role Of Elastase Activity In The Pathogenesis Of Severe Congenital Neutropenia

Ramesh C Nayak, PH.D., Lisa Trump, PhD, H. Leighton Grimes, PhD, Carolyn Lutzko, PhD, Jose A. Cancelas, M.D. PhD.

Blood (2013) 122 (21): 442.

https://doi.org/10.1182/blood.V122.21.442.442

Published: 2013

Journal Articles

Genetically Corrected Autologous Stem Cells Engraft, But Host Immune Responses Limit Their Utility in Canine -L-iduronidase Deficiency

Carolyn Lutzko, Stephen Kruth, Anthony C.G. Abrams-Ogg, Kathy Lau, Liheng Li, Brian R. Clark, Christine Ruedy, Shaherose Nanji, Robert Foster, Donald Kohn, Robert Shull, Ian D. Dubé

Blood (1999) 93 (6): 1895–1905.

https://doi.org/10.1182/blood.V93.6.1895.406k02_1895_1905

Published: 1999

NARROW

Loss of ATG5 in Humans Causes Syndromic Congenital Dyserythropoietic Anemia with Impaired Mitophagy in Late Stages of Terminal Erythropoiesis

The Dominant Negative Acting VPS4A E228Q Mutation Causes Dyserythropoiesis in Human iPSC-Derived Erythroblast Cultures That Phenocopies Cimdag Syndrome-Associated Anemia

Erythrocyte Disorders Mimicking Congenital Dyserythropoietic Anemia Based on Bone Marrow Pathology Exposed By Genetic Evaluation

De Novo Germline DHX38 Variant Associated with Alternative Splicing of Multiple Transcripts in Iron-Related Pathways in a Patient with Atypical Congenital Dyserythropoietic Anemia with Ring Sideroblasts

Successful Ex Vivo Telomere Elongation with Exg-001 in a Patient with a Dyskeratosis Congenita

Safety and Efficacy of Aru-1801 in Patients with Sickle Cell Disease: Early Results from the Phase 1/2 Momentum Study of a Modified Gamma Globin Gene Therapy and Reduced Intensity Conditioning

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

Early Results from a Phase 1/2 Study of Aru-1801 Gene Therapy for Sickle Cell Disease (SCD): Manufacturing Process Enhancements Improve Efficacy of a Modified Gamma Globin Lentivirus Vector and Reduced Intensity Conditioning Transplant

VPS4A mutations Cause a Syndrome with Dyserythropoiesis, Hemolytic Anemia, and Neurodevelopmental Delay

Peroxiredoxin II ( PRDX2 ) Is a Novel Candidate Gene for Congenital Dyserythropoietic Anemia

Gene Therapy for Sickle Cell Anemia Using a Modified Gamma Globin Lentivirus Vector and Reduced Intensity Conditioning Transplant Shows Promising Correction of the Disease Phenotype

The First Registry for Patients with Congenital Dyserythropoietic Anemia in North America: Design and Preliminary Results

VPS4A : A Novel Candidate Gene for Congenital Dyserythropoietic Anemia

Innovative Hematopoietic Gene-Therapy Concepts for Hereditary Pulmonary Alveolar Proteinosis Utilizing Hematopoietic Stem Cell Derived Macrophages

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

Myelopoiesis From Induced Pluripotent Stem Cells Reveals The Role Of Elastase Activity In The Pathogenesis Of Severe Congenital Neutropenia

Genetically Corrected Autologous Stem Cells Engraft, But Host Immune Responses Limit Their Utility in Canine -L-iduronidase Deficiency

Email alerts

ASH Publications

American Society of Hematology

Email alerts

ASH Publications

American Society of Hematology

This Feature Is Available To Subscribers Only