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Journal Articles

X-linked sideroblastic anemia in females

Sarah Ducamp, Dean R. Campagna, Anoop K. Sendamarai, Paul J. Schmidt, Harrison K. Tsai, Matthew M. Heeney, Sylvia S. Bottomley, Mark D. Fleming

Blood (2025) 145 (14): 1583–1587.

https://doi.org/10.1182/blood.2024024475

Published: 2025

Includes: Supplemental data

Journal Articles

Uncoupling Alas2 from Iron-Regulatory Proteins Demonstrates the Protective Role of Alas2 Iron-Responsive Element in Protoporphyrias

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

Blood (2024) 144 (Supplement 1): 2467.

https://doi.org/10.1182/blood-2024-210487

Published: 2024

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

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

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

A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia

Daniel A. Lichtenstein, Andrew W. Crispin, Anoop K. Sendamarai, Dean R. Campagna, Klaus Schmitz-Abe, Cristovao M. Sousa, Martin D. Kafina, Paul J. Schmidt, Charlotte M. Niemeyer, John Porter, Alison May, Mrinal M. Patnaik, Matthew M. Heeney, Alec Kimmelman, Sylvia S. Bottomley, Barry H. Paw, Kyriacos Markianos, Mark D. Fleming

Blood (2016) 128 (15): 1913–1917.

https://doi.org/10.1182/blood-2016-05-719062

Published: 2016

Includes: Supplemental data

Journal Articles

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9

Blood (2015) 126 (25): 2734–2738.

https://doi.org/10.1182/blood-2015-09-659854

Published: 2015

Includes: Supplemental data

Journal Articles

A Novel Conditional Knockout of the Diamond Blackfan Anemia Gene Rpl11 Shows Failure of Erythropoiesis, a Marked Increase in BFU-E Progenitors By Phenotype That Proliferate Poorly in Culture, and Activation of p53 Target Genes

Cailin E Joyce, PhD, Meaghan McGuinness, BS, Rebekka K Schneider, MD, Mark D. Fleming, MD DPhil, Dean R Campagna, BS, Paul J Schmidt, PhD, Benjamin L Ebert, MD PhD, Carl D. Novina, MDPhD, Colin A. Sieff, MB.BCh

Blood (2015) 126 (23): 1205.

https://doi.org/10.1182/blood.V126.23.1205.1205

Published: 2015

Journal Articles

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

Blood (2014) 124 (18): 2867–2871.

https://doi.org/10.1182/blood-2014-08-591370

Published: 2014

Includes: Supplemental data

Journal Articles

Analysis of novel sph ( spherocytosis ) alleles in mice reveals allele-specific loss of band 3 and adducin in α-spectrin–deficient red cells

Raymond F. Robledo, Amy J. Lambert, Connie S. Birkenmeier, Marius V. Cirlan, Andreea Flavia M. Cirlan, Dean R. Campagna, Samuel E. Lux, Luanne L. Peters

Blood (2010) 115 (9): 1804–1814.

https://doi.org/10.1182/blood-2009-07-232199

Published: 2010

Journal Articles

The Clinical and Genetic Spectrum of TMPRSS6 Mutations Leading to Inappropriate Hepcidin Expression and Iron Refractory Iron Deficiency Anemia (IRIDA).

Matthew M Heeney, MD, Dean R. Campagna, Mark Westerman, PhD, Mark D. Fleming, MD, DPhil

Blood (2009) 114 (22): 629.

https://doi.org/10.1182/blood.V114.22.629.629

Published: 2009

Journal Articles

Identification of a Steap3 endosomal targeting motif essential for normal iron metabolism

Teresa Lambe, Robert J. Simpson, Sara Dawson, Tiphaine Bouriez-Jones, Tanya L. Crockford, Michelle Lepherd, Gladys O. Latunde-Dada, Hannah Robinson, Kishor B. Raja, Dean R. Campagna, Guadalupe Villarreal, Jr, J. Clive Ellory, Christopher C. Goodnow, Mark D. Fleming, Andrew T. McKie, Richard J. Cornall

Blood (2009) 113 (8): 1805–1808.

https://doi.org/10.1182/blood-2007-11-120402

Published: 2009

Includes: Supplemental data

Journal Articles

Rsp1 Is Indispensable for mRNA Stability during Erythroid Terminal Differentiation

Meng Tian, BS, Dean R. Campagna, Nathaniel Langer, Seong-Kyu Choe, Ph.D., Barry H. Paw, M.D., Ph.D., Monica J. Justice, Ph.D., Mark D. Fleming

Blood (2008) 112 (11): 532.

https://doi.org/10.1182/blood.V112.11.532.532

Published: 2008

Journal Articles

Systematic Analysis of Known Candidate Genes in 58 Probands with Previously Uncharacterized Congenital Sideroblastic Anemia: Evidence for Genetic Heterogeneity and Identification of Novel Mutations in ALAS2 and PUS1

Anke K. Neuwirth, Dean R. Campagna, Mark D. Fleming, Sylvia S. Bottomley, Ellis J. Neufeld

Blood (2008) 112 (11): 484.

https://doi.org/10.1182/blood.V112.11.484.484

Published: 2008

Journal Articles

hem6 : an ENU-induced recessive hypochromic microcytic anemia mutation in the mouse

Meng Tian, Dean R. Campagna, Lanette S. Woodward, Monica J. Justice, Mark D. Fleming

Blood (2008) 112 (10): 4308–4313.

https://doi.org/10.1182/blood-2007-09-111500

Published: 2008

Includes: Supplemental data

Journal Articles

Response: What's in a name?

Ellis J. Neufeld, Venee N. Tubman, Jason E. Levine, Dean R. Campagna, Rita Monahan-Earley, Ann M. Dvorak, Mark D. Fleming

Blood (2007) 110 (7): 2771.

https://doi.org/10.1182/blood-2007-04-087387

Published: 2007

Journal Articles

X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation

Venée N. Tubman, Jason E. Levine, Dean R. Campagna, Rita Monahan-Earley, Ann M. Dvorak, Ellis J. Neufeld, Mark D. Fleming

Blood (2007) 109 (8): 3297–3299.

https://doi.org/10.1182/blood-2006-02-004101

Published: 2007

Includes: Supplemental data

Journal Articles

Abcb7 , the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis

Corinne Pondarre, Dean R. Campagna, Brendan Antiochos, Lindsay Sikorski, Howard Mulhern, Mark D. Fleming

Blood (2006) 109 (8): 3567–3569.

https://doi.org/10.1182/blood-2006-04-015768

Published: 2006

Includes: Supplemental data

Journal Articles

The Steap proteins are metalloreductases

Robert S. Ohgami, Dean R. Campagna, Alice McDonald, Mark D. Fleming

Blood (2006) 108 (4): 1388–1394.

https://doi.org/10.1182/blood-2006-02-003681

Published: 2006

Includes: Supplemental data

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X-linked sideroblastic anemia in females

Uncoupling Alas2 from Iron-Regulatory Proteins Demonstrates the Protective Role of Alas2 Iron-Responsive Element in Protoporphyrias

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

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

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

A recurring mutation in the respiratory complex 1 protein NDUFB11 is responsible for a novel form of X-linked sideroblastic anemia

Congenital sideroblastic anemia due to mutations in the mitochondrial HSP70 homologue HSPA9

A Novel Conditional Knockout of the Diamond Blackfan Anemia Gene Rpl11 Shows Failure of Erythropoiesis, a Marked Increase in BFU-E Progenitors By Phenotype That Proliferate Poorly in Culture, and Activation of p53 Target Genes

Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)

Analysis of novel sph ( spherocytosis ) alleles in mice reveals allele-specific loss of band 3 and adducin in α-spectrin–deficient red cells

The Clinical and Genetic Spectrum of TMPRSS6 Mutations Leading to Inappropriate Hepcidin Expression and Iron Refractory Iron Deficiency Anemia (IRIDA).

Identification of a Steap3 endosomal targeting motif essential for normal iron metabolism

Rsp1 Is Indispensable for mRNA Stability during Erythroid Terminal Differentiation

Systematic Analysis of Known Candidate Genes in 58 Probands with Previously Uncharacterized Congenital Sideroblastic Anemia: Evidence for Genetic Heterogeneity and Identification of Novel Mutations in ALAS2 and PUS1

hem6 : an ENU-induced recessive hypochromic microcytic anemia mutation in the mouse

Response: What's in a name?

X-linked gray platelet syndrome due to a GATA1 Arg216Gln mutation

Abcb7 , the gene responsible for X-linked sideroblastic anemia with ataxia, is essential for hematopoiesis

The Steap proteins are metalloreductases

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American Society of Hematology

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