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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

The Role of TCA Cycle Compounds in Erythroid Heme Synthesis and Its Regulation During an Inflammatory Response

Jason R. Marcero, BS, Joseph S. Burch, PhD, John D. Phillips, PhD, James E. Cox, PhD, Laurie K. Jackson, PhD, Harry A. Dailey, PhD

Blood (2017) 130 (Supplement 1): 3473.

https://doi.org/10.1182/blood.V130.Suppl_1.3473.3473

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

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

Inducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria

Daniel N. Egan, Zhantao Yang, John Phillips, Janis L. Abkowitz

Blood (2015) 126 (2): 257–261.

https://doi.org/10.1182/blood-2014-07-584664

Published: 2015

Includes: Supplemental data

Journal Articles

Impact of TET2 Deficiency on Iron Metabolism in Erythroblasts: A Potential Link to Ring Sideroblast Formation

Kyoko Inokura, MD, Tohru Fujiwara, MD PhD, Yoko Okitsu, MD PhD, Noriko Fukuhara, MD PhD, Yasushi Onishi, MD PhD, Kenichi Ishizawa, MD PhD, Kazuya Shimoda, MD PhD, Hideo Harigae, MD PhD

Blood (2014) 124 (21): 750.

https://doi.org/10.1182/blood.V124.21.750.750

Published: 2014

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

Inducing Iron Deficiency Dramatically Improves Erythropoiesis and Photosensitivity In Congenital Erythropoietic Porphyria (CEP)

Daniel N. Egan, MD, Zhantao Yang, MD, John Phillips, PhD, Janis L. Abkowitz, MD

Blood (2013) 122 (21): 3442.

https://doi.org/10.1182/blood.V122.21.3442.3442

Published: 2013

Journal Articles

A New ALAS2 Mutation Inducing a Male Lethal X-Linked Sideroblastic Anemia

Christian Rose, MD, Claire Oudin, Martine Fournier, Alexandre Bouquet, Luca Inchiappa, Bernard Grandchamp, Laurent Gouya, Caroline Kannengiesser

Blood (2013) 122 (21): 2199.

https://doi.org/10.1182/blood.V122.21.2199.2199

Published: 2013

Journal Articles

A New Mutation Of The ALAS2 Gene In a Chinese Family With X-linked

Rui Cui, MD, Guoqing Zhu, Zefeng Xu, Yue Zhang, MD, Gang Huang, PhD, Zhijian Xiao, MD

Blood (2013) 122 (21): 4674.

https://doi.org/10.1182/blood.V122.21.4674.4674

Published: 2013

Journal Articles

Identification of the Novel Erythroid-Specific Enhancer in the First Intron of Human ALAS2 Gene; Tthe Mutation Disrupting GATA Transcription Factor-Binding Site in the Enhancer Causes X-Linked Sideroblastic Anemia

Kazumichi Furuyama, MD, PhD, Kiriko Kaneko, Ph.D., Tohru Fujiwara, MD, PhD, Hideo Harigae, MD, PhD, Shigeki Shibahara, M.D., Ph.D.

Blood (2012) 120 (21): 3185.

https://doi.org/10.1182/blood.V120.21.3185.3185

Published: 2012

Journal Articles

Trafficking Kinesin Binding Protein Is Essential for Human Erythropoiesis

Seung-Jae Noh, PhD, Y.Terry Lee, Colleen Byrnes, Antoinette Rabel, Jeffery L. Miller

Blood (2011) 118 (21): 683.

https://doi.org/10.1182/blood.V118.21.683.683

Published: 2011

Journal Articles

ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria

Jordi To-Figueras, Sarah Ducamp, Jerome Clayton, Celia Badenas, Constance Delaby, Cecile Ged, Said Lyoumi, Laurent Gouya, Hubert de Verneuil, Carole Beaumont, Gloria C. Ferreira, Jean-Charles Deybach, Carmen Herrero, Herve Puy

Blood (2011) 118 (6): 1443–1451.

https://doi.org/10.1182/blood-2011-03-342873

Published: 2011

Includes: Supplemental data

Journal Articles

Dual Mode of Involvement of Transcriptional Mediator Subunit MED1 In GATA1-Mediated Erythroid Differentiation of K562 Erythroleukemia Cells

Shumpei Mizuta, Tomoya Minami, Chihiro Kaminaga, Kasumi Oda, Keiji Matsui, Akiko Sumitomo, Ruri Ishino, Mitsuhiro Ito, MD, PhD

Blood (2010) 116 (21): 3865.

https://doi.org/10.1182/blood.V116.21.3865.3865

Published: 2010

Journal Articles

New Mutation in ALAS2 as the Cause of X-Linked Sideroblastic Anemia Responsive to Pyridoxine: Comparison of ALAS2-Defective and DMT1-Defective BFU-E Growth.

Jana Kucerova, MSc, Monika Horvathova, MSc, PhD, Petra Belohlavkova, MD, Jaroslav Cermak, M.D., Ph.D., Vladimir Divoky, PhD

Blood (2009) 114 (22): 4051.

https://doi.org/10.1182/blood.V114.22.4051.4051

Published: 2009

Journal Articles

A NOVEL Mutation of the Erythroid-Specific Aminolevulinate Synthase 2 Gene IN A Patient with Pyridoxine Responsive Sideroblastic Anemia and Deferasirox Responsive Hemochromatosis.

Umran Caliskan, Huseyin Tokgoz, Hasan Yuksekkaya

Blood (2009) 114 (22): 5105.

https://doi.org/10.1182/blood.V114.22.5105.5105

Published: 2009

Journal Articles

Deficiency of MnSOD in Hematopoietic Stem Cells Causes a Sideroblastic Anemia-Like Phenotype.

Adam John Case, BS, Brett A. Wagner, Garry R. Buettner, Ph.D., Frederick E. Domann, Ph.D.

Blood (2009) 114 (22): 1991.

https://doi.org/10.1182/blood.V114.22.1991.1991

Published: 2009

Journal Articles

Molecular Phenotype of Sickle Chronic Lung Disease Revealed by Global Gene Expression Profiling

Fang Tan, Tianwei Yu, Yuhua Li, Samit Ghosh, Mario Mosunjac, Solomon F Ofori-Acquah

Blood (2008) 112 (11): 2480.

https://doi.org/10.1182/blood.V112.11.2480.2480

Published: 2008

Journal Articles

GATA-1-Specific Coactivator MED1/TRAP220, Transcriptional Mediator Subunit, Mediates Erythroid Differentiation in K562 Erythroleukemia Cells.

Tomoya Minami, Osamu Horie, Ph.D., Kana Inoue, Sawako Toji, Norinaga Urahama, M.D., Ph.D., Mitsuhiro Ito, M.D., Ph.D.

Blood (2008) 112 (11): 2259.

https://doi.org/10.1182/blood.V112.11.2259.2259

Published: 2008

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?

The Role of TCA Cycle Compounds in Erythroid Heme Synthesis and Its Regulation During an Inflammatory Response

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

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

Inducing iron deficiency improves erythropoiesis and photosensitivity in congenital erythropoietic porphyria

Impact of TET2 Deficiency on Iron Metabolism in Erythroblasts: A Potential Link to Ring Sideroblast Formation

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

Inducing Iron Deficiency Dramatically Improves Erythropoiesis and Photosensitivity In Congenital Erythropoietic Porphyria (CEP)

A New ALAS2 Mutation Inducing a Male Lethal X-Linked Sideroblastic Anemia

A New Mutation Of The ALAS2 Gene In a Chinese Family With X-linked

Identification of the Novel Erythroid-Specific Enhancer in the First Intron of Human ALAS2 Gene; Tthe Mutation Disrupting GATA Transcription Factor-Binding Site in the Enhancer Causes X-Linked Sideroblastic Anemia

Trafficking Kinesin Binding Protein Is Essential for Human Erythropoiesis

ALAS2 acts as a modifier gene in patients with congenital erythropoietic porphyria

Dual Mode of Involvement of Transcriptional Mediator Subunit MED1 In GATA1-Mediated Erythroid Differentiation of K562 Erythroleukemia Cells

New Mutation in ALAS2 as the Cause of X-Linked Sideroblastic Anemia Responsive to Pyridoxine: Comparison of ALAS2-Defective and DMT1-Defective BFU-E Growth.

A NOVEL Mutation of the Erythroid-Specific Aminolevulinate Synthase 2 Gene IN A Patient with Pyridoxine Responsive Sideroblastic Anemia and Deferasirox Responsive Hemochromatosis.

Deficiency of MnSOD in Hematopoietic Stem Cells Causes a Sideroblastic Anemia-Like Phenotype.

Molecular Phenotype of Sickle Chronic Lung Disease Revealed by Global Gene Expression Profiling

GATA-1-Specific Coactivator MED1/TRAP220, Transcriptional Mediator Subunit, Mediates Erythroid Differentiation in K562 Erythroleukemia Cells.

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American Society of Hematology

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ASH Publications

American Society of Hematology

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