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Journal Articles

Molecular Characterization and Novel Therapeutic Strategy for X-Linked Sideroblastic Anemia Associated with ALAS2 Missense Variants

Koya Ono, MD, Tohru Fujiwara, MD PhD, Kei Saito, MD PhD, Chie Suzuki, Noriyuki Takahashi, Koichi Onodera, MD PhD, Satoshi Ichikawa, MD PhD, Noriko Fukuhara, MD PhD, Yasushi Onishi, MD PhD, Hisayuki Yokoyama, MD PhD, Yukio Nakamura, MD PhD, Hideo Harigae, MD PhD

Blood (2019) 134 (Supplement_1): 3530.

https://doi.org/10.1182/blood-2019-124810

Published: 2019

Journal Articles

Characterization of Congenital Sideroblastic Anemia Model Due to ABCB7 Defects: How Do Defects in Iron-Sulfur Cluster Metabolism Lead to Ring Sideroblast Formation?

Tohru Fujiwara, MD PhD, Chie Suzuki, Tetsuro Ochi, Koya Ono, MD, Kei Saito, Noriko Fukuhara, MD PhD, Yasushi Onishi, MD PhD, Hisayuki Yokoyama, MD PhD, Shinichi Fujimaki, Yukio Nakamura, MD PhD, Hideo Harigae, MD PhD

Blood (2019) 134 (Supplement_1): 2232.

https://doi.org/10.1182/blood-2019-123918

Published: 2019

Journal Articles

Generation and Molecular Characterization of Human Ring Sideroblasts

Kei Saito, Tohru Fujiwara, MD PhD, Shunsuke Hatta, Chie Suzuki, Noriko Fukuhara, MD PhD, Yasushi Onishi, MD PhD, Yukio Nakamura, MD PhD, Hideo Harigae, MD

Blood (2018) 132 (Supplement 1): 3613.

https://doi.org/10.1182/blood-2018-99-111066

Published: 2018

Journal Articles

Clinical Characterization of a Novel Mutation in SLC25A38 Resulting in Congenital Sideroblastic Anemia in a Canadian First Nations Population

Kelsey Uminski, MD BSc, Donald S. Houston, MD PhD, Jessica Hartley, MS, CGC, Geoffrey Cuvelier, MD, Sara J. Israels, MD

Blood (2018) 132 (Supplement 1): 1035.

https://doi.org/10.1182/blood-2018-99-110343

Published: 2018

Journal Articles

"in the Patients' Hands"- a Structured Survey of Patient Voices to Prioritise Research Questions in Rare Inherited Anaemias: The James Lind Alliance Priority Setting Partnership

Jenny Welch, Nick Meade, Dominic Messenger, Amy Hunter, Anupama Rao, MD, Subarna Chakravorty, Rachel Wearmouth, Anju Chalin, Kristina Staley, Sheela Upadhyaya, Irene Roberts, MD, Noemi Roy, MBBCH, MD

Blood (2018) 132 (Supplement 1): 5876.

https://doi.org/10.1182/blood-2018-99-115404

Published: 2018

Journal Articles

Striking Difference in Iron Utilization between Oral and Intravenous Iron in Various Anemias and Hemochromatosis

Annelies J. Van Vuren, MD, Joannes J.M. Marx, Emeritus Professor, Richard van Wijk, PhD, Eduard J. van Beers, MD PhD

Blood (2018) 132 (Supplement 1): 2338.

https://doi.org/10.1182/blood-2018-99-113030

Published: 2018

Journal Articles

Generation of Patient-Derived Human Induced Pluripotent Stem Cells in X-Linked Sideroblastic Anemia and Novel Therapeutic Strategies

Yuki Morimoto, MD, Kazuhisa Chonabayashi, MD PhD, Masayuki Umeda, MD, Hiroshi Kawabata, MD PhD, Akifumi Takaori-Kondo, MD PhD, Yoshinori Yoshida, MD PhD

Blood (2017) 130 (Supplement 1): 938.

https://doi.org/10.1182/blood.V130.Suppl_1.938.938

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

Journal Articles

Establishment and Characterization of in Vitro Model of X-Linked Sideroblastic Anemia

Kei Saito, Tohru Fujiwara, MD PhD, Shunsuke Hatta, MD PhD, Yoko Okitsu, MD PhD, Noriko Fukuhara, MD PhD, Yasushi Onishi, MD PhD, Yukio Nakamura, MD PhD, Hideo Harigae, MD

Blood (2017) 130 (Supplement 1): 171.

https://doi.org/10.1182/blood.V130.Suppl_1.171.171

Published: 2017

Journal Articles

Use of Next Generation Sequencing Panel to Clarify Undiagnosed Cases of Hereditary Hemolytic Anemias

Elisa Fermo, PhD, Cristina Vercellati, PhD, Anna Paola Marcello, PhD, Ebru Yilmaz Keskin, MD, Aurora Feliu Torres, MD, Silverio Perrotta, Tekin Aksu, MD, Anna Zaninoni, BS, Valentina Brancaleoni, MSc, Richard van Wijk, PhD, Sultan Aydin Koker, MD, Alberto Zanella, MD, Agostino Cortelezzi, Prof, Wilma Barcellini, MD, Paola Bianchi, BSc, PhD

Blood (2017) 130 (Supplement 1): 3480.

https://doi.org/10.1182/blood.V130.Suppl_1.3480.3480

Published: 2017

Journal Articles

An infant with Pearson syndrome: a rare cause of congenital sideroblastic anemia and bone marrow failure

Corey P. Falcon, Thomas H. Howard

Blood (2017) 129 (19): 2710.

https://doi.org/10.1182/blood-2017-02-766881

Published: 2017

Journal Articles

A Novel Dual Monoclonal Sandwich ELISA for Human Erythroferrone

Huiling Han, MD, Keith Westerman, BS, Vaughn Ostland, PhD, Patrick Gutschow, MS, Gordana Olbina, PhD, Jacqueline da Silva Guimarães, PhD, Juçara Gastaldi Cominal, M.Sc, Ana Maria de Souza, PhD, Ana Cristina Silva Pinto, MD, Stefano Rivella, PhD, Yelena Ginzburg, MD, Mark D. Fleming, MD DPhil, Mark Westerman, PhD

Blood (2016) 128 (22): 1272.

https://doi.org/10.1182/blood.V128.22.1272.1272

Published: 2016

Journal Articles

Mutation of a GATA1 Binding Site in ALAS2 Intron 1 Arrests Murine Erythroid Development In Vivo

Yingchi Zhang, Jingliao Zhang, Wenbin An, Yang Wan, MD, Jie Gao, Lihong Shi, Tao Cheng, MD, Xiaofan Zhu, MD

Blood (2016) 128 (22): 2425.

https://doi.org/10.1182/blood.V128.22.2425.2425

Published: 2016

Journal Articles

Generation of Induced Pluripotent Stem Cell-Derived Erythroblasts from a Patient with X-Linked Sideroblastic Anemia

Shunsuke Hatta, MD, PhD, Tohru Fujiwara, MD, PhD, Takako Yamamoto, Mayumi Kamata, MD, Yoshiko Tamai, Yukio Nakamura, MD, PhD, Shin Kawamata, Hideo Harigae, MD PhD

Blood (2016) 128 (22): 76.

https://doi.org/10.1182/blood.V128.22.76.76

Published: 2016

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

Heterozygous Hotspot SF3B1 Mutations Found in Myelodysplastic Syndromes Downregulate Genes Involved in Differentiation of Erythroid Cells

Blood (2015) 126 (23): 1643.

https://doi.org/10.1182/blood.V126.23.1643.1643

Published: 2015

Journal Articles

Different Mutant Splicing Factors Cause Distinct Missplicing Events and Give Rise to Different Clinical Phenotypes in Myelodysplastic Syndromes

Yusuke Shiozawa, MD, Luca Malcovati, MD, Aiko Sato-Otsubo, Anna Gallì, Kenichi Yoshida, MD PhD, Tetsuichi Yoshizato, MD, Yusuke Sato, MD PhD, Keisuke Kataoka, MD PhD, Masashi Sanada, MD PhD, Hideki Makishima, MD PhD, Yuichi Shiraishi, MD PhD, Kenichi Chiba, BA, Satoru Miyano, MD PhD, Eva Hellström Lindberg, MD PhD, Seishi Ogawa, MD PhD, Mario Cazzola, MD

Blood (2015) 126 (23): 139.

https://doi.org/10.1182/blood.V126.23.139.139

Published: 2015

Journal Articles

Exploring the Potential Usefulness of 5-Aminolevulinic Acid for X-Linked Sideroblastic Anemia

Tohru Fujiwara, MD PhD, Ryoyu Niikuni, Koji Okamoto, Yoko Okitsu, MD PhD, Noriko Fukuhara, MD PhD, Yasushi Onishi, MD PhD, Kenichi Ishizawa, MD PhD, Ryo Ichinohasama, MD PhD, Yukio Nakamura, MD, PhD, Tohru Tanaka, PhD, Hideo Harigae, MD PhD

Blood (2014) 124 (21): 215.

https://doi.org/10.1182/blood.V124.21.215.215

Published: 2014

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

NARROW

Molecular Characterization and Novel Therapeutic Strategy for X-Linked Sideroblastic Anemia Associated with ALAS2 Missense Variants

Characterization of Congenital Sideroblastic Anemia Model Due to ABCB7 Defects: How Do Defects in Iron-Sulfur Cluster Metabolism Lead to Ring Sideroblast Formation?

Generation and Molecular Characterization of Human Ring Sideroblasts

Clinical Characterization of a Novel Mutation in SLC25A38 Resulting in Congenital Sideroblastic Anemia in a Canadian First Nations Population

"in the Patients' Hands"- a Structured Survey of Patient Voices to Prioritise Research Questions in Rare Inherited Anaemias: The James Lind Alliance Priority Setting Partnership

Striking Difference in Iron Utilization between Oral and Intravenous Iron in Various Anemias and Hemochromatosis

Generation of Patient-Derived Human Induced Pluripotent Stem Cells in X-Linked Sideroblastic Anemia and Novel Therapeutic Strategies

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

Establishment and Characterization of in Vitro Model of X-Linked Sideroblastic Anemia

Use of Next Generation Sequencing Panel to Clarify Undiagnosed Cases of Hereditary Hemolytic Anemias

An infant with Pearson syndrome: a rare cause of congenital sideroblastic anemia and bone marrow failure

A Novel Dual Monoclonal Sandwich ELISA for Human Erythroferrone

Mutation of a GATA1 Binding Site in ALAS2 Intron 1 Arrests Murine Erythroid Development In Vivo

Generation of Induced Pluripotent Stem Cell-Derived Erythroblasts from a Patient with X-Linked Sideroblastic Anemia

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

Heterozygous Hotspot SF3B1 Mutations Found in Myelodysplastic Syndromes Downregulate Genes Involved in Differentiation of Erythroid Cells

Different Mutant Splicing Factors Cause Distinct Missplicing Events and Give Rise to Different Clinical Phenotypes in Myelodysplastic Syndromes

Exploring the Potential Usefulness of 5-Aminolevulinic Acid for X-Linked Sideroblastic Anemia

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

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American Society of Hematology

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ASH Publications

American Society of Hematology

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