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Journal Articles

A novel mouse model of hemoglobin SC disease reveals mechanisms underlying beneficial effects of hydroxyurea

Open Access
Tahereh Setayesh, Mengna Chi, Zachery Oestreicher, Masahide Sakabe, Katie Seu, Zhenqi Zhu, Harsimran Kaur, Anifat Tijani, Mei Xin, Amy Shova, Kenneth D. Greis, Tim M. Townes, József Balla, Katherine VandenHeuvel, Yueh-Chiang Hu, Punam Malik
Journal: Blood
Blood (2025) 146 (1): 13–28.
https://doi.org/10.1182/blood.2024028136
Published: 2025
Includes: Supplemental data
Journal Articles

Heterogeneity of the Erythromyeloblastic Island (EMBI) Niche during Baseline and Stress Erythropoiesis

Free
Katie Seu, Laurel Romano, Athina Ntoumaziou, Maria Stewart, Jason C Gardner, Robert Paulson, Yi Zheng, Matthew Kofron, Lionel Blanc, Nathan Salomonis, Theodosia A. Kalfa
Journal: Blood
Blood (2024) 144 (Supplement 1): 163.
https://doi.org/10.1182/blood-2024-212042
Published: 2024
Journal Articles

Inducible, Erythroid-Specific Knockout of Codanin-1 in Adult Mice Replicates Congenital Dyserythropoietic Anemia Type-Ia

Free
Corbin R Azucenas, Aikaterini Voulgaridou, Maria Stewart, Athina Ntoumaziou, Yasmin Elgammal, Katie Seu, Theodosia A. Kalfa
Journal: Blood
Blood (2024) 144 (Supplement 1): 1071.
https://doi.org/10.1182/blood-2024-208959
Published: 2024
Journal Articles

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

Free
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
Journal: Blood
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

Free
Courtney Gatterdam, Sana Emberesh, Yasmin Elgammal, Carolyn Lutzko, Lionel Blanc, Jose Cancelas, Theodosia A. Kalfa, Katie Seu
Journal: Blood
Blood (2024) 144 (Supplement 1): 2458.
https://doi.org/10.1182/blood-2024-211628
Published: 2024
Journal Articles

Inducible Knockout of Codanin-1: An Adult Mouse Model of Congenital Dyserythropoietic Anemia Type-I

Free
Corbin R Azucenas, Maria Stewart, Aikaterini Voulgaridou, Katie Seu, Theodosia A. Kalfa
Journal: Blood
Blood (2023) 142 (Supplement 1): 2450.
https://doi.org/10.1182/blood-2023-187075
Published: 2023
Journal Articles

Leveraging Transcriptomic Data to Study Erythromyeloblastic Island (EMBI) Macrophages: Using Spic-GFP As a Marker for Embi Macrophages

Free
Laurel Romano, Athina Ntoumaziou, Jason C Gardner, Maria Stewart, Robert Paulson, Nathan Salomonis, Lionel Blanc, Katie Seu, Theodosia A. Kalfa
Journal: Blood
Blood (2023) 142 (Supplement 1): 3832.
https://doi.org/10.1182/blood-2023-187162
Published: 2023
Journal Articles

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

Free
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
Journal: Blood
Blood (2023) 142 (Supplement 1): 2459.
https://doi.org/10.1182/blood-2023-189140
Published: 2023
Journal Articles

Dominant-Negative VPS4A Mutations Causing Congenital Dyserythropoietic Anemia Disrupt Iron Trafficking of Terminal Erythropoiesis

Free
Katie Seu, Aikaterini Voulgaridou, Maria Stewart, Jessica Meznarich, Clarissa Johnson, Harald Junge, Bryan Mackenzie, Lionel Blanc, Jose A. Cancelas, Theodosia A. Kalfa
Journal: Blood
Blood (2022) 140 (Supplement 1): 8190–8191.
https://doi.org/10.1182/blood-2022-170843
Published: 2022
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

Free
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
Journal: Blood
Blood (2022) 140 (Supplement 1): 1234–1235.
https://doi.org/10.1182/blood-2022-166509
Published: 2022
Journal Articles

Congenital Dyserythropoietic Anemia Type I Due to Biallelic CDAN1 mutations: Report from the Congenital Dyserythropoietic Anemia Registry (CDAR)

Free
Omar Niss, MD, Robert B. Lorsbach, MD PhD, David K. Buchbinder, MD MSHS, Satheesh Chonat, MD, Morgan L. McLemore, MD, Timothy McCavit, MD, Jeffrey H Schwartz, MD, Jessica Meznarich, MD, Katie Seu, Wenying Zhang, MD PhD, Theodosia A. Kalfa, MD PhD
Journal: Blood
Blood (2019) 134 (Supplement_1): 3521.
https://doi.org/10.1182/blood-2019-128975
Published: 2019