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Journal Articles

Murine models of erythroid 5ALA synthesis disorders and their conditional synthetic lethal dependency on pyridoxine

Sarah Ducamp, Anoop K. Sendamarai, Dean R. Campagna, Desmond Wai Loon Chin, Yuko Fujiwara, Paul J. Schmidt, Mark D. Fleming

Blood (2024) 144 (13): 1418–1432.

https://doi.org/10.1182/blood.2023023078

Published: 2024

Includes: Supplemental data

Journal Articles

The Relationship between Protoporphyrin IX and Platelet Count in the Protoporphyrias

Rebecca Karp Leaf, Paul Yanning Jiang, R. Jay Goddu, Benny Tran, Lina Rebeiz, Sarina Elmariah, Pamela G Hodges, Jennifer Mead, John Trinidad, Behnam Saberi, Mark D. Fleming, Sarah Ducamp, Karl Anderson, Amy Dickey

Blood (2023) 142 (Supplement 1): 5230.

https://doi.org/10.1182/blood-2023-180928

Published: 2023

Journal Articles

Conditional Synthetic Lethality between the Initial Steps of Heme Biosynthesis and Pyridoxine Metabolism during Erythropoiesis

Sarah Ducamp, Anoop Sendamarai, Mark D. Fleming

Blood (2022) 140 (Supplement 1): 5346–5347.

https://doi.org/10.1182/blood-2022-169421

Published: 2022

Journal Articles

Bitopertin, a Selective Glycine Transporter 1 Inhibitor, Reduced Protoporphyrin IX (PPIX) Level and Improved Liver Fibrosis in a Mouse Model of Erythropoietic Protoporphyria (EPP)

Min Wu, Sarah Ducamp, Yi Xiang, Juan Putra, Mark D. Fleming, Brian MacDonald, Paul J Schmidt

Blood (2022) 140 (Supplement 1): 8192–8193.

https://doi.org/10.1182/blood-2022-168924

Published: 2022

Journal Articles

Outcomes of Hematologic Complications in Shwachman Diamond Syndrome: High Risk Features and Implications for Surveillance

Ashley Galvin, Chris R. Reilly, Maggie Malsch, Sara Loveless, Joseph H. Antin, Stella M Davies, Courtney D. DiNardo, Adam Lane, Coleman Lindsley, Taizo A. Nakano, Richard Cooper, Katherine Coyne, Claire Dusa, Margret Joos, Mark D. Fleming, Kasiani C. Myers, Akiko Shimamura

Blood (2022) 140 (Supplement 1): 2949–2950.

https://doi.org/10.1182/blood-2022-164969

Published: 2022

Journal Articles

Association of unbalanced translocation der(1;7) with germline GATA2 mutations

Blood (2021) 138 (23): 2441–2445.

https://doi.org/10.1182/blood.2021012781

Published: 2021

Includes: Supplemental data

Journal Articles

Pyridoxine Response in Mouse Alas2 Knock-in Models of X-Linked Sideroblastic Anemia and X-Linked Protoporphyria

Sarah Ducamp, Paul J Schmidt, Dean R Campagna, Mark D. Fleming

Blood (2021) 138 (Supplement 1): 925.

https://doi.org/10.1182/blood-2021-150683

Published: 2021

Journal Articles

Distinct Genetic Pathways Define Leukemia Predisposition Versus Adaptive Clonal Hematopoiesis in Shwachman-Diamond Syndrome

Alyssa L. Kennedy, MDPhD, Kasiani C. Myers, MD, James Bowman, PhD, Christopher J. Gibson, MD, Gwen M. Muscato, Robert Klein, Kaitlyn Ballotti, Nicholas Camarda, Elissa M. Furutani, MD, Chad E. Harris, MS, Shanshan Liu, PhD, Ashley Galvin, Maggie Malsch, MSN, RN, David C. Dale, MD, John M Gansner, MD PhD, Taizo A. Nakano, MD, Alison A. Bertuch, MD, Adrianna Vlachos, MD, Jeff H. Lipton, MD PhD, Paul Castillo, MD, James Connelly, John Edwards, MD, Nobuko Hijiya, MD, Richard Ho, MD, Inga Hofmann, MD, James N Huang, MD, Sioban B. Keel, MD, Adam J. Lamble, MD, Bonnie W Lau, MD PhD, Kelly J. Walkovich, MD, Maxim Norkin, MD, Wendy Stock, MD, Steffen Boettcher, Christian Brendel, PhD, Elliot Stieglitz, MD, Mark D. Fleming, MD DPhil, Stella M. Davies, PhD MBBS, MRCP, Edie A. Weller, Chris Bahl, PhD, Scott L. Carter, PhD, Akiko Shimamura, MD PhD, R. Coleman Lindsley, MD PhD

Blood (2020) 136 (Supplement 1): 35–36.

https://doi.org/10.1182/blood-2020-137125

Published: 2020

Journal Articles

Low iron promotes megakaryocytic commitment of megakaryocytic-erythroid progenitors in humans and mice

Juliana Xavier-Ferrucio, Vanessa Scanlon, Xiuqi Li, Ping-Xia Zhang, Larisa Lozovatsky, Nadia Ayala-Lopez, Toma Tebaldi, Stephanie Halene, Chang Cao, Mark D. Fleming, Karin E. Finberg, Diane S. Krause

Blood (2019) 134 (18): 1547–1557.

https://doi.org/10.1182/blood.2019002039

Published: 2019

Includes: Supplemental data

Journal Articles

The molecular genetics of sideroblastic anemia

Sarah Ducamp, Mark D. Fleming

Blood (2019) 133 (1): 59–69.

https://doi.org/10.1182/blood-2018-08-815951

Published: 2019

Journal Articles

Lack of GDF11 Does Not Ameliorate Erythropoiesis in β-Thalassemia and Does Not Prevent the Activity of the Trap-Ligand RAP-536

Amaliris Guerra, PhD, Rea Oikonomidou, MD, Sinha Gonzalez, PhD, Jianbing Zhang, PhD, Vania Lo Presti, Callum R Hamilton, Laura Breda, PhD, Carla Casu, Mark D. Fleming, MD DPhil, Pedro Martinez, PhD, Rajasekhar Suragani, PhD, Ravi Kumar, PhD, Stefano Rivella

Blood (2018) 132 (Supplement 1): 165.

https://doi.org/10.1182/blood-2018-165

Published: 2018

Journal Articles

Congenital X-Linked Myelodysplasia with Tetraploidy Is Associated with De Novo Germline C-Terminal Mutation of SEPT6, a Septin Filament Protein

Raffaele Renella, MD PhD, Katelyn Gagne, BS, Ellen Beauchamp, BA, Thorsten Schlaeger, PhD, Inga Hofmann, MD, Akiko Shimamura, MD PhD, Jonathan Fogel, BSc, Suneet Agarwal, MDPhD, Benjamin L. Ebert, MDPhD, Kyriacos Markianos, Timothy A. Springer, PhD, Mark D. Fleming, MD DPhil, David A. Williams, MD

Blood (2018) 132 (Supplement 1): 644.

https://doi.org/10.1182/blood-2018-99-114682

Published: 2018

Journal Articles

Integrated Genomic and Proteomic Analysis of Murine CLL-like Cells Reveals SF3B1 Mutation to Impact DNA Damage Response and BCR Signaling

Lili Wang, MDPhD, Shanye Yin, PhD, Aina zurita Martinez, Fara Faye Regis, BS, Angela Brooks, PhD, Sarah E. M. Herman, PhD, Elisa Ten Hacken, PhD, Esther Obeng, MD PhD, Dean Campagna, BS, Mark D. Fleming, MD DPhil, Benjamin L. Ebert, MDPhD, Adrian Wiestner, MD, Ignaty Leshchiner, PhD, Gad Getz, PhD, Ruben D. Carrasco, MD PhD, Catherine J. Wu, MD

Blood (2018) 132 (Supplement 1): 947.

https://doi.org/10.1182/blood-2018-99-117691

Published: 2018

Journal Articles

Optimized Beta-Globin Expression and Enucleation from Induced Red Blood Cells for In Vitro Modeling of Sickle Cell Disease

Tolulope O Rosanwo, BA, Melissa Kinney, PhD, Martha A Clark, PhD, Linda T Vo, PhD, R. Grant Rowe, MD PhD, Natasha M. Archer, MD, Matthew M Heeney, MD, Thorsten Schlaeger, PhD, Daniel E. Bauer, MD PhD, Mark D. Fleming, MD DPhil, Manoj T Duraisingh, PhD, Stuart H. Orkin, MD, Carlo Brugnara, MD, Trista North, PhD, George Q. Daley, MD PhD

Blood (2018) 132 (Supplement 1): 2359.

https://doi.org/10.1182/blood-2018-99-114136

Published: 2018

Journal Articles

Myeloid Malignancy Variant Curation Expert Panel: An ASH-Sponsored Clingen Expert Panel to Optimize and Validate Acmg/AMP Variant Interpretation Guidelines for Genes Associated with Inherited Myeloid Neoplasms

Blood (2018) 132 (Supplement 1): 5849.

https://doi.org/10.1182/blood-2018-99-118979

Published: 2018

Journal Articles

Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice

Blood (2018) 132 (13): 1399–1412.

https://doi.org/10.1182/blood-2017-08-802769

Published: 2018

Includes: Supplemental data

Journal Articles

Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency

Matthew M. Heeney, Dongjing Guo, Luigia De Falco, Dean R. Campagna, Gordana Olbina, Paige P.-C. Kao, Klaus Schmitz-Abe, Fedik Rahimov, Patrick Gutschow, Keith Westerman, Vaughn Ostland, Tracy Jackson, Robert J. Klaassen, Kyriacos Markianos, Karin E. Finberg, Achille Iolascon, Mark Westerman, Wendy B. London, Mark D. Fleming

Blood (2018) 132 (4): 448–452.

https://doi.org/10.1182/blood-2017-03-773028

Published: 2018

Includes: Supplemental data

Journal Articles

MDS and AML in Shwachman-Diamond Syndrome: Clinical Features and Outcomes

Blood (2017) 130 (Supplement 1): 1177.

https://doi.org/10.1182/blood.V130.Suppl_1.1177.1177

Published: 2017

Journal Articles

Congenital Sideroblastic Anemias: Iron and Heme Lost in Mitochondrial Translation

Mark D. Fleming, MD DPhil

Blood (2017) 130 (Supplement 1): SCI-41.

https://doi.org/10.1182/blood.V130.Suppl_1.SCI-41.SCI-41

Published: 2017

Journal Articles

Hscb , a Mitochondrial Iron-Sulfur Cluster Assembly Co-Chaperone, Is a Novel Candidate Gene for Congenital Sideroblastic Anemia

Andrew Crispin, BS, Paul Schmidt, PhD, Dean Campagna, BS, Chang Cao, PhD, Daniel Lichtenstein, BS, Anoop Sendamarai, PhD, Chaoshe Guo, PhD, Caiyong Chen, PhD, Gordon J Hildick-Smith, MD, Nicolas C Huston, BA, Jeanne Boudreaux, MD, Sylvia S. Bottomley, MD, Matthew M Heeney, MD, Barry H. Paw, MD PhD, Mark D. Fleming, MD DPhil, Sarah Ducamp, PhD

Blood (2017) 130 (Supplement 1): 79.

https://doi.org/10.1182/blood.V130.Suppl_1.79.79

Published: 2017

NARROW

Murine models of erythroid 5ALA synthesis disorders and their conditional synthetic lethal dependency on pyridoxine

The Relationship between Protoporphyrin IX and Platelet Count in the Protoporphyrias

Conditional Synthetic Lethality between the Initial Steps of Heme Biosynthesis and Pyridoxine Metabolism during Erythropoiesis

Bitopertin, a Selective Glycine Transporter 1 Inhibitor, Reduced Protoporphyrin IX (PPIX) Level and Improved Liver Fibrosis in a Mouse Model of Erythropoietic Protoporphyria (EPP)

Outcomes of Hematologic Complications in Shwachman Diamond Syndrome: High Risk Features and Implications for Surveillance

Association of unbalanced translocation der(1;7) with germline GATA2 mutations

Pyridoxine Response in Mouse Alas2 Knock-in Models of X-Linked Sideroblastic Anemia and X-Linked Protoporphyria

Distinct Genetic Pathways Define Leukemia Predisposition Versus Adaptive Clonal Hematopoiesis in Shwachman-Diamond Syndrome

Low iron promotes megakaryocytic commitment of megakaryocytic-erythroid progenitors in humans and mice

The molecular genetics of sideroblastic anemia

Lack of GDF11 Does Not Ameliorate Erythropoiesis in β-Thalassemia and Does Not Prevent the Activity of the Trap-Ligand RAP-536

Congenital X-Linked Myelodysplasia with Tetraploidy Is Associated with De Novo Germline C-Terminal Mutation of SEPT6, a Septin Filament Protein

Integrated Genomic and Proteomic Analysis of Murine CLL-like Cells Reveals SF3B1 Mutation to Impact DNA Damage Response and BCR Signaling

Optimized Beta-Globin Expression and Enucleation from Induced Red Blood Cells for In Vitro Modeling of Sickle Cell Disease

Myeloid Malignancy Variant Curation Expert Panel: An ASH-Sponsored Clingen Expert Panel to Optimize and Validate Acmg/AMP Variant Interpretation Guidelines for Genes Associated with Inherited Myeloid Neoplasms

Congenital macrothrombocytopenia with focal myelofibrosis due to mutations in human G6b-B is rescued in humanized mice

Normalizing hepcidin predicts TMPRSS6 mutation status in patients with chronic iron deficiency

MDS and AML in Shwachman-Diamond Syndrome: Clinical Features and Outcomes

Congenital Sideroblastic Anemias: Iron and Heme Lost in Mitochondrial Translation

Hscb , a Mitochondrial Iron-Sulfur Cluster Assembly Co-Chaperone, Is a Novel Candidate Gene for Congenital Sideroblastic Anemia

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American Society of Hematology

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American Society of Hematology

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