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Journal Articles

Digital PCR Assay to Assess the Alternative Splicing and Absolute Ferrochelatase Expression

Valentina Brancaleoni, MSc, Francesca Granata, MSc, Silvia Fustinoni, PhD, Giovanna Graziadei, MD, Maria Domenica Cappellini, MD, Elena Di Pierro, PhD

Blood (2017) 130 (Supplement 1): 3474.

https://doi.org/10.1182/blood.V130.Suppl_1.3474.3474

Published: 2017

Journal Articles

Erythropoietin Signaling Regulates Heme Biosynthesis

Jacky Chung, PhD, Johannes G. Wittig, Alireza Ghamari, Manami Maeda, MD, PhD, Harvey Lodish, PhD, Daniel E. Bauer, MD, PhD, Stuart H. Orkin, MD, Alan B. Cantor, MD, PhD, Takahiro Maeda, MD PhD, Harry A. Dailey, PhD, Barry H. Paw, MD, PhD

Blood (2016) 128 (22): 543.

https://doi.org/10.1182/blood.V128.22.543.543

Published: 2016

Journal Articles

A Dominant Mutation in Mitochondrial Unfoldase CLPX Results in Erythropoietic Protoporphyria

Yvette Y Yien, PhD, Gael Nicolas, PhD, Lisa van der Vorm, Laurent Gouya, MD PhD, Hector Begonia, Martin Kafina, Jean-Charles Deybach, MD PhD, Tania Baker, PhD, Julia Kardon, PhD, John D. Phillips, PhD, Hervé Puy, MD PhD, Barry H. Paw, MD, PhD

Blood (2016) 128 (22): 77.

https://doi.org/10.1182/blood.V128.22.77.77

Published: 2016

Journal Articles

Mitochondrial Protein Kinase A Regulates Heme Biosynthesis

Jacky Chung, PhD, Johannes G. Wittig, Daniel E. Bauer, MD, PhD, Joshua J. Coon, PhD, Dave J. Pagliarini, PhD, Harry A. Dailey, PhD, Harvey F. Lodish, PhD, Barry H. Paw, MD, PhD

Blood (2015) 126 (23): 271.

https://doi.org/10.1182/blood.V126.23.271.271

Published: 2015

Journal Articles

Red cells from ferrochelatase-deficient erythropoietic protoporphyria patients are resistant to growth of malarial parasites

Clare M. Smith, Ante Jerkovic, Hervé Puy, Ingrid Winship, Jean-Charles Deybach, Laurent Gouya, Giel van Dooren, Christopher Dean Goodman, Angelika Sturm, Hana Manceau, Geoffrey Ian McFadden, Peter David, Odile Mercereau-Puijalon, Gaétan Burgio, Brendan J. McMorran, Simon J. Foote

Blood (2015) 125 (3): 534–541.

https://doi.org/10.1182/blood-2014-04-567149

Published: 2015

Includes: Supplemental data

Journal Articles

Erythropoietic Protoporphyric Red Blood Cells Are Resistant to the Growth of Malarial Parasites

Brendan John McMorran, BSc (Hons), PhD, Clare M Smith, BSc (Hons), PhD, Ante Jerkovic, Hervé Puy, MD PhD, Ingrid Winship, Jean-Charles Deybach, Laurent Gouya, Giel van Dooren, Christopher Dean Goodman, Angelika Sturm, Hana Manceau, Geoffrey Ian McFadden, Peter David, Odile Mercereau-Puijalon, Gaetan Burgio, Simon J Foote, MBBS, PhD

Blood (2014) 124 (21): 2670.

https://doi.org/10.1182/blood.V124.21.2670.2670

Published: 2014

Journal Articles

Heme-Related Blood Disorders

Hervé Puy, Sr., MD, PhD, Karim Zoubida, PhD, Lyoumi Said, PhD, Lydie M. Da Costa, MD, PhD, Gouya Laurent, MD, PhD

Blood (2013) 122 (21): SCI-18.

https://doi.org/10.1182/blood.V122.21.SCI-18.SCI-18

Published: 2013

Journal Articles

Splicing Factor 3b Subunit 1 ( SF3B1) mediates Mitochondrial Iron Overload In Myelodysplastic Syndromes With Ring Sideroblasts By Alternative Splicing Of Mitoferrin-1 ( SLC25A37 )

Blood (2013) 122 (21): 1555.

https://doi.org/10.1182/blood.V122.21.1555.1555

Published: 2013

Journal Articles

Heme-Regulated eIF2α Kinase in Erythropoiesis and Oxidative Stress

Jane-Jane Chen, PhD

Blood (2011) 118 (21): SCI-23.

https://doi.org/10.1182/blood.V118.21.SCI-23.SCI-23

Published: 2011

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

Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria

S. Alexander Holme, Mark Worwood, Alexander V. Anstey, George H. Elder, Michael N. Badminton

Blood (2007) 110 (12): 4108–4110.

https://doi.org/10.1182/blood-2007-04-088120

Published: 2007

Includes: Supplemental data

Journal Articles

Four Novel Mutations in the Ferrochelatase (FECH) Gene in Patients with Erythropoietic Protoporphyria (EPP).

Elena Di Pierro, PhD, Valentina Brancaleoni, PhD, Valeria Besana, PhD, Sabrina Ausenda, PhD, Melanie Care, MSc, Maria Domenica Cappellini, MD

Blood (2007) 110 (11): 3688.

https://doi.org/10.1182/blood.V110.11.3688.3688

Published: 2007

Journal Articles

Abnormal Expression of Human Mitoferrin (SLC25A37) Is Associated with a Variant of Erythropoietic Protoporphyria.

George C. Shaw, BA, Nathaniel B. Langer, B.A., Yongming Wang, M.S., Liangtao Li, M.D., Jerry Kaplan, Ph.D., Joseph R. Bloomer, M.D., Barry H. Paw, M.D., Ph.D.

Blood (2006) 108 (11): 3.

https://doi.org/10.1182/blood.V108.11.3.3

Published: 2006

Journal Articles

Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient mice

Saïd Lyoumi, Marie Abitbol, Valérie Andrieu, Dominique Henin, Elodie Robert, Caroline Schmitt, Laurent Gouya, Hubert de Verneuil, Jean-Charles Deybach, Xavier Montagutelli, Carole Beaumont, Hervé Puy

Blood (2006) 109 (2): 811–818.

https://doi.org/10.1182/blood-2006-04-014142

Published: 2006

Journal Articles

Photosensitivity and acute liver injury in myeloproliferative disorder secondary to late-onset protoporphyria caused by deletion of a ferrochelatase gene in hematopoietic cells

Richard G. Goodwin, W. Jonathan Kell, Peter Laidler, C. Colin Long, Sharon D. Whatley, Mark McKinley, Michael N. Badminton, Alan K. Burnett, Geraint T. Williams, George H. Elder

Blood (2006) 107 (1): 60–62.

https://doi.org/10.1182/blood-2004-12-4939

Published: 2006

Journal Articles

Ferrochelatase Mutation Screening by Denaturing High Performance Liquid Chomatography in Idiopathic Acquired Sideroblastic Anemia (Refractory Anemia with Ringed Sideroblasts) and Erythrocytic Protoporphyria.

Kathleen A. Hecksel, BS, Gordon W. Dewald, PhD, David P. Steensma, MD

Blood (2005) 106 (11): 3735.

https://doi.org/10.1182/blood.V106.11.3735.3735

Published: 2005

Journal Articles

Two Functional Mutations in cis of the Ferrochelatase Gene (FECH) Cause Erythropoietic Protoporphyria (EPP).

Elena Di Pierro, PhD, Valentina Brancaleoni, BD, Valeria Moriondo, BtD, Maria D. Cappellini, MD

Blood (2005) 106 (11): 3544.

https://doi.org/10.1182/blood.V106.11.3544.3544

Published: 2005

Journal Articles

Microcytic anemia, erythropoietic protoporphyria, and neurodegeneration in mice with targeted deletion of iron-regulatory protein 2

Sharon S. Cooperman, Esther G. Meyron-Holtz, Hayden Olivierre-Wilson, Manik C. Ghosh, Joseph P. McConnell, Tracey A. Rouault

Blood (2005) 106 (3): 1084–1091.

https://doi.org/10.1182/blood-2004-12-4703

Published: 2005

Journal Articles

Increased expression of the Abcg2 transporter during erythroid maturation plays a role in decreasing cellular protoporphyrin IX levels

Sheng Zhou, Yang Zong, Paul A. Ney, Geeta Nair, Clinton F. Stewart, Brian P. Sorrentino

Blood (2005) 105 (6): 2571–2576.

https://doi.org/10.1182/blood-2004-04-1566

Published: 2005

Journal Articles

Intravenous Hemin as Prophylaxis of Allograft Function Following Second Liver Transplant for Erythropoietic Protoporphyria.

Gary J. Schiller, M.D., Leonard Goldstein, M.D., Richard Finn, M.D., Ronald Busuttil, M.D.

Blood (2004) 104 (11): 3677.

https://doi.org/10.1182/blood.V104.11.3677.3677

Published: 2004

NARROW

Digital PCR Assay to Assess the Alternative Splicing and Absolute Ferrochelatase Expression

Erythropoietin Signaling Regulates Heme Biosynthesis

A Dominant Mutation in Mitochondrial Unfoldase CLPX Results in Erythropoietic Protoporphyria

Mitochondrial Protein Kinase A Regulates Heme Biosynthesis

Red cells from ferrochelatase-deficient erythropoietic protoporphyria patients are resistant to growth of malarial parasites

Erythropoietic Protoporphyric Red Blood Cells Are Resistant to the Growth of Malarial Parasites

Heme-Related Blood Disorders

Splicing Factor 3b Subunit 1 ( SF3B1) mediates Mitochondrial Iron Overload In Myelodysplastic Syndromes With Ring Sideroblasts By Alternative Splicing Of Mitoferrin-1 ( SLC25A37 )

Heme-Regulated eIF2α Kinase in Erythropoiesis and Oxidative Stress

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

Erythropoiesis and iron metabolism in dominant erythropoietic protoporphyria

Four Novel Mutations in the Ferrochelatase (FECH) Gene in Patients with Erythropoietic Protoporphyria (EPP).

Abnormal Expression of Human Mitoferrin (SLC25A37) Is Associated with a Variant of Erythropoietic Protoporphyria.

Increased plasma transferrin, altered body iron distribution, and microcytic hypochromic anemia in ferrochelatase-deficient mice

Photosensitivity and acute liver injury in myeloproliferative disorder secondary to late-onset protoporphyria caused by deletion of a ferrochelatase gene in hematopoietic cells

Ferrochelatase Mutation Screening by Denaturing High Performance Liquid Chomatography in Idiopathic Acquired Sideroblastic Anemia (Refractory Anemia with Ringed Sideroblasts) and Erythrocytic Protoporphyria.

Two Functional Mutations in cis of the Ferrochelatase Gene (FECH) Cause Erythropoietic Protoporphyria (EPP).

Microcytic anemia, erythropoietic protoporphyria, and neurodegeneration in mice with targeted deletion of iron-regulatory protein 2

Increased expression of the Abcg2 transporter during erythroid maturation plays a role in decreasing cellular protoporphyrin IX levels

Intravenous Hemin as Prophylaxis of Allograft Function Following Second Liver Transplant for Erythropoietic Protoporphyria.

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American Society of Hematology

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American Society of Hematology

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