List of works - Mark D Fleming

A competitive enzyme-linked immunosorbent assay specific for murine hepcidin-1: correlation with hepatic mRNA expression in established and novel models of dysregulated iron homeostasis

scientific article published on 25 November 2014

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency

scientific journal article

A mouse model of juvenile hemochromatosis

scientific article

A mutation in Sec15l1 causes anemia in hemoglobin deficit (hbd) mice

scientific article

A novel TERC CR4/CR5 domain mutation causes telomere disease via decreased TERT binding

scientific article published on September 2016

A polymorphism in the leptin gene promoter is associated with anemia in patients with HIV disease

scientific article published on 16 September 2011

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

scientific article published on 3 August 2016

A tincture of hepcidin cures all: the potential for hepcidin therapeutics.

scientific article published on 22 November 2010

AKT induces erythroid-cell maturation of JAK2-deficient fetal liver progenitor cells and is required for Epo regulation of erythroid-cell differentiation.

scientific article published on 27 October 2005

Aggressive Langerhans cell histiocytosis following T-ALL: clonally related neoplasms with persistent expression of constitutively active NOTCH1

scientific article published on 01 February 2008

An RNAi therapeutic targeting Tmprss6 decreases iron overload in Hfe(-/-) mice and ameliorates anemia and iron overload in murine β-thalassemia intermedia

scientific article published on 6 December 2012

Angiosarcoma

scientific article published on 01 April 1997

Applications of pathology-assisted image analysis of immunohistochemistry-based biomarkers in oncology

scientific article published on 14 November 2013

CD4+/CD56+ hematodermic neoplasm ("blastic natural killer cell lymphoma"): neoplastic cells express the immature dendritic cell marker BDCA-2 and produce interferon

scientific article published on 01 September 2007

Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors

scientific journal article

Characterization of mitochondrial ferritin-deficient mice.

scientific article published in December 2010

Coincident expression of the chemokine receptors CCR6 and CCR7 by pathologic Langerhans cells in Langerhans cell histiocytosis

scientific article published on 01 April 2003

Combination therapy with a Tmprss6 RNAi-therapeutic and the oral iron chelator deferiprone additively diminishes secondary iron overload in a mouse model of β-thalassemia intermedia.

scientific article

Commentary on

scientific article published on 01 September 1999

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways ⬇️

scientific article

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

scientific article published on 13 June 2018

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

scientific article

Congenital sideroblastic anemias: iron and heme lost in mitochondrial translation.

scientific article published on January 2011

Cybrd1 (duodenal cytochrome b) is not necessary for dietary iron absorption in mice

scientific article published on 16 June 2005

Defective apoptosis and B-cell lymphomas in mice with p53 point mutation at Ser 23.

scientific article published on 02 September 2004

Design and validation of a high-throughput matrix-assisted laser desorption ionization time-of-flight mass spectrometry method for quantification of hepcidin in human plasma

scientific article

Differing impact of the deletion of hemochromatosis-associated molecules HFE and transferrin receptor-2 on the iron phenotype of mice lacking bone morphogenetic protein 6 or hemojuvelin

scientific article published on 12 November 2015

Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome

scientific article published on 26 February 2021

Down-regulation of Bmp/Smad signaling by Tmprss6 is required for maintenance of systemic iron homeostasis

scientific article

Emi1 maintains genomic integrity during zebrafish embryogenesis and cooperates with p53 in tumor suppression.

scientific article published on 24 August 2009

Endogenous oncogenic Nras mutation promotes aberrant GM-CSF signaling in granulocytic/monocytic precursors in a murine model of chronic myelomonocytic leukemia

scientific article

Expression of the DMT1 (NRAMP2/DCT1) iron transporter in mice with genetic iron overload disorders.

scientific article

Failure to define window of time for autologous tumor vaccination in patients with newly diagnosed or relapsed acute lymphoblastic leukemia

scientific article published on 01 March 2005

Genetic variation in Mon1a affects protein trafficking and modifies macrophage iron loading in mice

scientific journal article

Genome-wide association study follow-up identifies cyclin A2 as a regulator of the transition through cytokinesis during terminal erythropoiesis

scientific article published on 5 February 2015

Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity

scientific article

HRG1 Is Essential for Heme Transport from the Phagolysosome of Macrophages during Erythrophagocytosis ⬇️

scientific article published on February 5, 2013

Haem homeostasis is regulated by the conserved and concerted functions of HRG-1 proteins

scientific journal article

Heme transport and erythropoiesis

scientific article published on 14 February 2013

Heme-regulated eIF2alpha kinase (HRI) is required for translational regulation and survival of erythroid precursors in iron deficiency

scientific article

Hemojuvelin is essential for transferrin-dependent and transferrin-independent hepcidin expression in mice

scientific journal article

Hepatic Iron Overload in the Age of Hereditary Hemochromatosis Mutation Analysis ⬇️

scientific article published on 01 May 1998

Hepcidin induction by transgenic overexpression of Hfe does not require the Hfe cytoplasmic tail, but does require hemojuvelin

scientific article

Hereditary xerocytosis revisited

scientific article published on 21 July 2014

High-throughput matrix-assisted laser desorption ionization-time-of-flight mass spectrometry method for quantification of hepcidin in human urine

scientific article

High-throughput tyrosine kinase activity profiling identifies FAK as a candidate therapeutic target in Ewing sarcoma

scientific article published on 27 March 2013

Highly penetrant, rapid tumorigenesis through conditional inversion of the tumor suppressor gene Snf5

scientific article published on 01 November 2002

Human breast cancer cells generated by oncogenic transformation of primary mammary epithelial cells.

scientific article

Identification and characterization of a novel murine allele of Tmprss6.

scientific article published on 8 January 2013

Identification of a ferrireductase required for efficient transferrin-dependent iron uptake in erythroid cells

scientific journal article

Identification of a novel mutation (C321X) in HJV.

scientific article

Immortalization and transformation of primary human airway epithelial cells by gene transfer.

scientific article published on July 2002

Immunosurveillance and survivin-specific T-cell immunity in children with high-risk neuroblastoma

scientific article published on 01 December 2006

Impact of hemochromatosis gene mutations on cardiac status in doxorubicin-treated survivors of childhood high-risk leukemia

scientific article published on 16 July 2013

Indolent T-lymphoblastic Proliferation With Disseminated Multinodal Involvement and Partial CD33 Expression

scientific article published on 01 September 2014

Induced pluripotent stem cells with a mitochondrial DNA deletion

scientific article published on July 2013

Ineffective erythropoiesis in Stat5a−/−5b−/− mice due to decreased survival of early erythroblasts ⬇️

scientific article published on December 1, 2001

Iron Deficiency Anemia Associated with an Error of Iron Metabolism in Two Siblings: A Thirty Year Follow Up.

scientific article

Iron overload in patients with acute leukemia or MDS undergoing myeloablative stem cell transplantation.

scientific article published on 18 September 2010

Iron-responsive degradation of iron-regulatory protein 1 does not require the Fe-S cluster

scientific journal article

Loss of SPEF2 function in mice results in spermatogenesis defects and primary ciliary dyskinesia

scientific article

Loss of the acyl-CoA binding protein (Acbp) results in fatty acid metabolism abnormalities in mouse hair and skin

scientific journal article

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

scientific article published on 01 October 2019

Lymphomas of the breast: primary and secondary involvement

scientific article published on 01 January 2002

Mammalian iron transport: an unexpected link between metal homeostasis and host defense

scientific article published on 01 December 1998

Mitochondrial Atpif1 regulates haem synthesis in developing erythroblasts

scientific article

Mitochondrial heme: an exit strategy at last ⬇️

scientific article published on November 26, 2012

Modulation of hepcidin as therapy for primary and secondary iron overload disorders: preclinical models and approaches

scientific article

Murine mutants in the study of systemic iron metabolism and its disorders: An update on recent advances ⬇️

scientific article published on January 28, 2012

Musashi-2 regulates normal hematopoiesis and promotes aggressive myeloid leukemia

scientific article

Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)

scientific article

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

scientific article

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia

scientific article

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features

scientific article published on 3 October 2017

Mutations in the serum/glucocorticoid regulated kinase 3 (Sgk3) are responsible for the mouse fuzzy (fz) hair phenotype

scientific article published on 04 October 2007

Myelopoiesis in the zebrafish, Danio rerio.

scientific article published in August 2001

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

scientific article published on 12 June 2018

Nramp2 is mutated in the anemic Belgrade (b) rat: evidence of a role for Nramp2 in endosomal iron transport.

scientific article published on February 1998

Pancreatic lipomatosis in Diamond-Blackfan anemia: The importance of genetic testing in bone marrow failure disorders

scientific article published on 06 September 2018

Pathogenesis of Langerhans cell histiocytosis.

scientific article published on 06 August 2012

Pathology of the liver in familial hemophagocytic lymphohistiocytosis

scientific article published on 01 June 2010

Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia.

scientific article

Pediatric aplastic anemia and refractory cytopenia: A retrospective analysis assessing outcomes and histomorphologic predictors.

scientific article

Perturbation of hepcidin expression by BMP type I receptor deletion induces iron overload in mice

scientific article

Physiologic Expression of Sf3b1(K700E) Causes Impaired Erythropoiesis, Aberrant Splicing, and Sensitivity to Therapeutic Spliceosome Modulation.

scientific article published on September 2016

Potential biomarkers of bortezomib activity in mantle cell lymphoma from the phase 2 PINNACLE trial.

scientific article published on July 2010

Primary ciliary dyskinesia in mice lacking the novel ciliary protein Pcdp1.

scientific article

Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations

scientific article published on 20 May 2016

QTLs for murine red blood cell parameters in LG/J and SM/J F2 and advanced intercross lines ⬇️

scientific article published on February 10, 2012

RNAi-mediated reduction of hepatic Tmprss6 diminishes anemia and secondary iron overload in a splenectomized mouse model of β-thalassemia intermedia

scientific article published on 2 March 2018

Recurrent BRAF mutations in Langerhans cell histiocytosis

scientific article

Ringed sideroblasts in β-thalassemia

scientific article published on 3 November 2016

SBDS protein expression patterns in the bone marrow.

scientific article

SIRT3 regulates cellular iron metabolism and cancer growth by repressing iron regulatory protein 1.

scientific article published on 09 June 2014

Screen for alterations of iron related parameters in N-ethyl-N-nitrosourea-treated mice identified mutant lines with increased plasma ferritin levels

scientific article published in 2015

Severe combined immunodeficiency (SCID) presenting with neonatal aplastic anemia.

scientific article published on 22 May 2015

Sideroblastic anemia: diagnosis and management.

scientific article

Splenic pathology in myelodysplasia: a report of 13 cases with clinical correlation

scientific article published on 01 October 1998

Structure of the membrane proximal oxidoreductase domain of human Steap3, the dominant ferrireductase of the erythroid transferrin cycle

scientific article

Systematic molecular genetic analysis of congenital sideroblastic anemia: evidence for genetic heterogeneity and identification of novel mutations

scientific article

T-lymphoblastic lymphoma cells express high levels of BCL2, S1P1, and ICAM1, leading to a blockade of tumor cell intravasation.

scientific article

Telomerase contributes to tumorigenesis by a telomere length-independent mechanism

scientific article

The Crystal Structure of Six-transmembrane Epithelial Antigen of the Prostate 4 (Steap4), a Ferri/Cuprireductase, Suggests a Novel Interdomain Flavin-binding Site

scientific article

The IRP1-HIF-2α axis coordinates iron and oxygen sensing with erythropoiesis and iron absorption

scientific article published on February 2013

The M2 splice isoform of pyruvate kinase is important for cancer metabolism and tumour growth

scientific article (publication date: 13 March 2008)

The Steap proteins are metalloreductases

scientific article

The genetics of inherited sideroblastic anemias.

scientific article

The ins and outs of erythroid heme transport.

scientific article published on June 2015

The mitochondrial ATP-binding cassette transporter Abcb7 is essential in mice and participates in cytosolic iron-sulfur cluster biogenesis.

scientific article published on 8 February 2006

The molecular genetics of sideroblastic anemia

article

The placenta: the forgotten essential organ of iron transport

scientific article published on 31 May 2016

The regulation of hepcidin and its effects on systemic and cellular iron metabolism.

scientific article published on January 2008

The spleen as a diagnostic specimen: a review of 10 years' experience at two tertiary care institutions.

scientific article published in June 2001

Transferrin is a major determinant of hepcidin expression in hypotransferrinemic mice

scientific article

Transgenic HFE‐dependent induction of hepcidin in mice does not require transferrin receptor‐2 ⬇️

scientific article published on March 28, 2012

UBE2O remodels the proteome during terminal erythroid differentiation.

scientific article

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

scientific article

X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations

scientific article

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

scientific article published on 09 September 2008

nm1054: a spontaneous, recessive, hypochromic, microcytic anemia mutation in the mouse

scientific journal article

List of works by Mark D Fleming

A competitive enzyme-linked immunosorbent assay specific for murine hepcidin-1: correlation with hepatic mRNA expression in established and novel models of dysregulated iron homeostasis

A missense mutation in TFRC, encoding transferrin receptor 1, causes combined immunodeficiency

A mouse model of juvenile hemochromatosis

A mutation in Sec15l1 causes anemia in hemoglobin deficit (hbd) mice

A novel TERC CR4/CR5 domain mutation causes telomere disease via decreased TERT binding

A polymorphism in the leptin gene promoter is associated with anemia in patients with HIV disease

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

A tincture of hepcidin cures all: the potential for hepcidin therapeutics.

AKT induces erythroid-cell maturation of JAK2-deficient fetal liver progenitor cells and is required for Epo regulation of erythroid-cell differentiation.

Aggressive Langerhans cell histiocytosis following T-ALL: clonally related neoplasms with persistent expression of constitutively active NOTCH1

An RNAi therapeutic targeting Tmprss6 decreases iron overload in Hfe(-/-) mice and ameliorates anemia and iron overload in murine β-thalassemia intermedia

Angiosarcoma

Applications of pathology-assisted image analysis of immunohistochemistry-based biomarkers in oncology

CD4+/CD56+ hematodermic neoplasm ("blastic natural killer cell lymphoma"): neoplastic cells express the immature dendritic cell marker BDCA-2 and produce interferon

Cdk5rap2 regulates centrosome function and chromosome segregation in neuronal progenitors

Characterization of mitochondrial ferritin-deficient mice.

Coincident expression of the chemokine receptors CCR6 and CCR7 by pathologic Langerhans cells in Langerhans cell histiocytosis

Combination therapy with a Tmprss6 RNAi-therapeutic and the oral iron chelator deferiprone additively diminishes secondary iron overload in a mouse model of β-thalassemia intermedia.

Commentary on

Common variants at 10 genomic loci influence hemoglobin A₁(C) levels via glycemic and nonglycemic pathways ⬇️

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

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

Congenital sideroblastic anemias: iron and heme lost in mitochondrial translation.

Cybrd1 (duodenal cytochrome b) is not necessary for dietary iron absorption in mice

Defective apoptosis and B-cell lymphomas in mice with p53 point mutation at Ser 23.

Design and validation of a high-throughput matrix-assisted laser desorption ionization time-of-flight mass spectrometry method for quantification of hepcidin in human plasma

Differing impact of the deletion of hemochromatosis-associated molecules HFE and transferrin receptor-2 on the iron phenotype of mice lacking bone morphogenetic protein 6 or hemojuvelin

Distinct genetic pathways define pre-malignant versus compensatory clonal hematopoiesis in Shwachman-Diamond syndrome

Down-regulation of Bmp/Smad signaling by Tmprss6 is required for maintenance of systemic iron homeostasis

Emi1 maintains genomic integrity during zebrafish embryogenesis and cooperates with p53 in tumor suppression.

Endogenous oncogenic Nras mutation promotes aberrant GM-CSF signaling in granulocytic/monocytic precursors in a murine model of chronic myelomonocytic leukemia

Expression of the DMT1 (NRAMP2/DCT1) iron transporter in mice with genetic iron overload disorders.

Failure to define window of time for autologous tumor vaccination in patients with newly diagnosed or relapsed acute lymphoblastic leukemia

Genetic variation in Mon1a affects protein trafficking and modifies macrophage iron loading in mice

Genome-wide association study follow-up identifies cyclin A2 as a regulator of the transition through cytokinesis during terminal erythropoiesis

Genomic analysis of bone marrow failure and myelodysplastic syndromes reveals phenotypic and diagnostic complexity

HRG1 Is Essential for Heme Transport from the Phagolysosome of Macrophages during Erythrophagocytosis ⬇️

Haem homeostasis is regulated by the conserved and concerted functions of HRG-1 proteins

Heme transport and erythropoiesis

Heme-regulated eIF2alpha kinase (HRI) is required for translational regulation and survival of erythroid precursors in iron deficiency

Hemojuvelin is essential for transferrin-dependent and transferrin-independent hepcidin expression in mice

Hepatic Iron Overload in the Age of Hereditary Hemochromatosis Mutation Analysis ⬇️

Hepcidin induction by transgenic overexpression of Hfe does not require the Hfe cytoplasmic tail, but does require hemojuvelin

Hereditary xerocytosis revisited

High-throughput matrix-assisted laser desorption ionization-time-of-flight mass spectrometry method for quantification of hepcidin in human urine

High-throughput tyrosine kinase activity profiling identifies FAK as a candidate therapeutic target in Ewing sarcoma

Highly penetrant, rapid tumorigenesis through conditional inversion of the tumor suppressor gene Snf5

Human breast cancer cells generated by oncogenic transformation of primary mammary epithelial cells.

Identification and characterization of a novel murine allele of Tmprss6.

Identification of a ferrireductase required for efficient transferrin-dependent iron uptake in erythroid cells

Identification of a novel mutation (C321X) in HJV.

Immortalization and transformation of primary human airway epithelial cells by gene transfer.

Immunosurveillance and survivin-specific T-cell immunity in children with high-risk neuroblastoma

Impact of hemochromatosis gene mutations on cardiac status in doxorubicin-treated survivors of childhood high-risk leukemia

Indolent T-lymphoblastic Proliferation With Disseminated Multinodal Involvement and Partial CD33 Expression

Induced pluripotent stem cells with a mitochondrial DNA deletion

Ineffective erythropoiesis in Stat5a−/−5b−/− mice due to decreased survival of early erythroblasts ⬇️

Iron Deficiency Anemia Associated with an Error of Iron Metabolism in Two Siblings: A Thirty Year Follow Up.

Iron overload in patients with acute leukemia or MDS undergoing myeloablative stem cell transplantation.

Iron-responsive degradation of iron-regulatory protein 1 does not require the Fe-S cluster

Loss of SPEF2 function in mice results in spermatogenesis defects and primary ciliary dyskinesia

Loss of the acyl-CoA binding protein (Acbp) results in fatty acid metabolism abnormalities in mouse hair and skin

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

Lymphomas of the breast: primary and secondary involvement

Mammalian iron transport: an unexpected link between metal homeostasis and host defense

Mitochondrial Atpif1 regulates haem synthesis in developing erythroblasts

Mitochondrial heme: an exit strategy at last ⬇️

Modulation of hepcidin as therapy for primary and secondary iron overload disorders: preclinical models and approaches

Murine mutants in the study of systemic iron metabolism and its disorders: An update on recent advances ⬇️

Musashi-2 regulates normal hematopoiesis and promotes aggressive myeloid leukemia

Mutations in TMPRSS6 cause iron-refractory iron deficiency anemia (IRIDA)

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

Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia

Mutations in signal recognition particle SRP54 cause syndromic neutropenia with Shwachman-Diamond-like features

Mutations in the serum/glucocorticoid regulated kinase 3 (Sgk3) are responsible for the mouse fuzzy (fz) hair phenotype

Myelopoiesis in the zebrafish, Danio rerio.

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

Nramp2 is mutated in the anemic Belgrade (b) rat: evidence of a role for Nramp2 in endosomal iron transport.

Pancreatic lipomatosis in Diamond-Blackfan anemia: The importance of genetic testing in bone marrow failure disorders