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Journal Articles

A natural DNMT1 mutation elevates the fetal hemoglobin level via epigenetic derepression of the γ-globin gene in β-thalassemia

Yi Gong, Xinhua Zhang, Qianqian Zhang, Yanxia Zhang, Yuhua Ye, Wenxia Yu, Congwen Shao, Tizhen Yan, Jin Huang, Jianmei Zhong, Li Wang, Yaoyun Li, Liren Wang, Xiangmin Xu

Blood (2021) 137 (12): 1652–1657.

https://doi.org/10.1182/blood.2020006425

Published: 2021

Includes: Supplemental data

Journal Articles

Somatic genetic rescue in hematopoietic cells in GATA2 deficiency

Luiz Fernando B. Catto, Gustavo Borges, André L. Pinto, Diego V. Clé, Fernando Chahud, Barbara A. Santana, Flavia S. Donaires, Rodrigo T. Calado

Blood (2020) 136 (8): 1002–1005.

https://doi.org/10.1182/blood.2020005538

Published: 2020

Includes: Supplemental data

Journal Articles

Machine Learning Unveils Proteotypic Mimicry in Genetically Defined SCN Variants

Sebastian Hesse, MD, Christoph Klein, MD PhD, Rappsilber Juri, Prof., Yoko Mizoguchi, Monika Linder, PhD, Piotr Grabowski, PhD, Zahra Alizadeh, PhD, Zahra Pourpak, MD PhD, Nima Rezaei, MD PhD, Sorin Iurian, MD PhD, Ekrem Unal, MD, Fabian Hauck, MD PhD, Ralf Zimmer, Prof., Gergely Csaba, PhD

Blood (2019) 134 (Supplement_1): 3580.

https://doi.org/10.1182/blood-2019-131136

Published: 2019

Journal Articles

RASA3 Is Essential for Early Mammalian Hematopoiesis and Modulates ERK Signaling in Terminal Erythropoiesis

Elena C. Brindley, BS, Raymond F. Robledo, PhD, Steven L. Ciciotte, MS, Joel H. Graber, PhD, Yue Zhao, Emily Hartman, BS, Julien Papoin, MS, Lionel Blanc, PhD, Luanne L. Peters, PhD

Blood (2019) 134 (Supplement_1): 3505.

https://doi.org/10.1182/blood-2019-130328

Published: 2019

Journal Articles

DIS3 Mutation in RUNX1-Mutated AML1 Confers a Highly Dismal Prognosis in AML By Repressing Sister Chromatid Cohesion

Christophe Desterke, PhD, Annelise Bennaceur-Griscelli, MD PhD, Ali G Turhan, MD PhD

Blood (2019) 134 (Supplement_1): 1454.

https://doi.org/10.1182/blood-2019-123352

Published: 2019

Journal Articles

Mutational Type and Configuration of an Individual Gene May Differentially Impact the Clinical and Phenotypic Features

Yasunobu Nagata, MD PhD, Hideki Makishima, MD PhD, Cassandra M Kerr, MS, Bhumika J. Patel, MD, Hassan Awada, Vera Adema, PhD, Valeria Visconte, PhD, Sudipto Mukherjee, MD PhD MPH, Thomas Laframboise, PhD, Aziz Nazha, MD, Tomas Radivoyevitch, PhD, Mikkael A. Sekeres, MD MS, Seishi Ogawa, MD PhD, Jaroslaw P. Maciejewski, MD PhD

Blood (2019) 134 (Supplement_1): 2992.

https://doi.org/10.1182/blood-2019-128893

Published: 2019

Journal Articles

High Burden of Clonal Hematopoiesis in First Responders Exposed to the World Trade Center Disaster

Blood (2019) 134 (Supplement_1): 3720.

https://doi.org/10.1182/blood-2019-129276

Published: 2019

Journal Articles

Novel Pathogenic Genes and Rare Mutations of Congenital Factor V Deficiency: A Case Report

Haixia Guo, MD PhD

Blood (2019) 134 (Supplement_1): 4920.

https://doi.org/10.1182/blood-2019-126350

Published: 2019

Journal Articles

Synthetic Lethal Interaction between Apto-253 and IDH1/2 Mutations

Cheng-Yu Tsai, PhD, Hongying Zhang, MD PhD, William G Rice, PhD, Stephen B Howell, MD

Blood (2019) 134 (Supplement_1): 5755.

https://doi.org/10.1182/blood-2019-123571

Published: 2019

Journal Articles

Effects of Actr2 gene Variants on Mouse Viability, Gene Expression, and Cytoskeletal Dynamics

Linzi M Hobbs, BS, Amy E Siebert, PhD, Alexander J Johnston, BS, Marisa A Brake, BSc, Vakharia Paras, PharmD, MD, Cleuren Audrey, PhD, Guojing Zhu, MD, Randal J Westrick, PhD

Blood (2019) 134 (Supplement_1): 2340.

https://doi.org/10.1182/blood-2019-131004

Published: 2019

Journal Articles

A Novel Cycs Missense Mutation in the α-Helix of the Cycs C-Terminal Domain Causes Non-Syndromic Thrombocytopenia

Yuri Uchiyama, MD PhD, Kunio Yanagisawa, MD PhD, Shinji Kunishima, PhD, Masaaki Shiina, MD PhD, Yoshiyuki Ogawa, MD PhD, Mitsuko Nakashima, MD PhD, Satoko Miyatake, MD PhD, Satomi Mitsuhashi, MD PhD, Atsushi Takata, MD PhD, Noriko Miyake, MD PhD, Kazuhiro Ogata, MD PhD, Hiroshi Handa, MD PhD, Naomichi Matsumoto, MD PhD, Takeshi Mizuguchi, MD PhD

Blood (2018) 132 (Supplement 1): 3758.

https://doi.org/10.1182/blood-2018-99-114729

Published: 2018

Journal Articles

Pathogenic Germline Variants in Acquired Aplastic Anemia (AA) and Paroxysmal Nocturnal Hemoglobinuria (PNH)

Wenyi Shen, MD, Cassandra M. Hirsch, Bartlomiej P. Przychodzen, Hideki Makishima, MD PhD, Louis Williams, MD MBA, Sudipto Mukherjee, MD PhD MPH, Hetty E. Carraway, MD MBA, Mikkael A. Sekeres, MD MS, Jaroslaw P. Maciejewski

Blood (2018) 132 (Supplement 1): 2583.

https://doi.org/10.1182/blood-2018-99-115228

Published: 2018

Journal Articles

Conversion of T-Effector Cells to Immunosuppressive T-Regulatory-like Cells By CRISPR/Cas9-Mediated Integration of a FOXP3 Transgene

Yuchi Honaker, PhD, Yufei Xiang, MD, PhD, Logan Fisher, B.S., Karen Sommer, PhD, Troy R. Torgerson, MD PhD, Andrew M. Scharenberg, MD, David J. Rawlings, MD

Blood (2018) 132 (Supplement 1): 3490.

https://doi.org/10.1182/blood-2018-99-117456

Published: 2018

Journal Articles

SAMD9 and SAMD9L Germline Disorders in Patients Enrolled in Studies of the European Working Group of MDS in Childhood (EWOG-MDS): Prevalence, Outcome, Phenotype and Functional Characterisation

Blood (2018) 132 (Supplement 1): 643.

https://doi.org/10.1182/blood-2018-99-118389

Published: 2018

Journal Articles

Nearly a Third of Clonal Hematopoiesis-Associated DNMT3A Mutations Reduce Protein Stability and May be Associated with Poorer Prognosis

Yung-Hsin Huang, Ayala Tovy, PhD, Venkatasubramaniam Sundaramurthy, Jianzhong Su, Joanne Hsu, BS, Lian He, Anna Guzman, Yubin Zhou, Alexander Meissner, PhD, Wei Li, Margaret A. Goodell, PhD

Blood (2018) 132 (Supplement 1): 1315.

https://doi.org/10.1182/blood-2018-99-115275

Published: 2018

Journal Articles

Understanding the Role of CSF3R and Runx1 Runt Homology Domain Missense Mutations in Leukemic Transformation of Hematopoietic Stem Cells

Malte U Ritter, Olga Klimenkova, Maksim Klimiankou, Amy E Schmidt, MDPhD, Carol Stocking, PhD, Lothar Kanz, Cornelia Zeidler, Daniel C. Link, MD, Karl Welte, Julia Skokowa, MDPhD

Blood (2018) 132 (Supplement 1): 1101.

https://doi.org/10.1182/blood-2018-99-118644

Published: 2018

Journal Articles

Two Novel Compound Heterozygous Pathogenic Variants in P2YR12 gene

Arnaud Dupuis, PhD, Doris Böckelmann, PhD, Patricia Laeuffer, Katharina Neubauer, PhD, Christian Gachet, MD PhD, Barbara Zieger

Blood (2018) 132 (Supplement 1): 1154.

https://doi.org/10.1182/blood-2018-99-112833

Published: 2018

Journal Articles

Splicing Control in Normal and Aberrant Erythropoiesis

Esther Obeng, MD PhD

Blood (2018) 132 (Supplement 1): SCI-47.

https://doi.org/10.1182/blood-2018-99-109414

Published: 2018

Journal Articles

CIC-Mutation As a Potential Molecular Mechanism of Acquired Resistance to Combined BRAF/MEK Inhibition in CNS Multiple Myeloma

Matteo Claudio Da Via', MD, Antonio Giovanni Solimando, MD, Andoni Garitano-Trojaola, PhD, Santiago Barrio, PhD, Nadine Rodhes, Susanne Strifler, MD, Eva Teufel, Constantin Lapa, MD, Hermann Einsele, MD, Andreas Beilhack, MD, K. Martin Kortüm, MD

Blood (2018) 132 (Supplement 1): 3181.

https://doi.org/10.1182/blood-2018-99-117203

Published: 2018

Journal Articles

Human CTL-based functional analysis shows the reliability of a munc13-4 protein expression assay for FHL3 diagnosis

Hirofumi Shibata, Takahiro Yasumi, Saeko Shimodera, Eitaro Hiejima, Kazushi Izawa, Tomoki Kawai, Ryutaro Shirakawa, Taizo Wada, Ryuta Nishikomori, Hisanori Horiuchi, Osamu Ohara, Eiichi Ishii, Toshio Heike

Blood (2018) 131 (18): 2016–2025.

https://doi.org/10.1182/blood-2017-10-812503

Published: 2018

Includes: Supplemental data

NARROW

A natural DNMT1 mutation elevates the fetal hemoglobin level via epigenetic derepression of the γ-globin gene in β-thalassemia

Somatic genetic rescue in hematopoietic cells in GATA2 deficiency

Machine Learning Unveils Proteotypic Mimicry in Genetically Defined SCN Variants

RASA3 Is Essential for Early Mammalian Hematopoiesis and Modulates ERK Signaling in Terminal Erythropoiesis

DIS3 Mutation in RUNX1-Mutated AML1 Confers a Highly Dismal Prognosis in AML By Repressing Sister Chromatid Cohesion

Mutational Type and Configuration of an Individual Gene May Differentially Impact the Clinical and Phenotypic Features

High Burden of Clonal Hematopoiesis in First Responders Exposed to the World Trade Center Disaster

Novel Pathogenic Genes and Rare Mutations of Congenital Factor V Deficiency: A Case Report

Synthetic Lethal Interaction between Apto-253 and IDH1/2 Mutations

Effects of Actr2 gene Variants on Mouse Viability, Gene Expression, and Cytoskeletal Dynamics

A Novel Cycs Missense Mutation in the α-Helix of the Cycs C-Terminal Domain Causes Non-Syndromic Thrombocytopenia

Pathogenic Germline Variants in Acquired Aplastic Anemia (AA) and Paroxysmal Nocturnal Hemoglobinuria (PNH)

Conversion of T-Effector Cells to Immunosuppressive T-Regulatory-like Cells By CRISPR/Cas9-Mediated Integration of a FOXP3 Transgene

SAMD9 and SAMD9L Germline Disorders in Patients Enrolled in Studies of the European Working Group of MDS in Childhood (EWOG-MDS): Prevalence, Outcome, Phenotype and Functional Characterisation

Nearly a Third of Clonal Hematopoiesis-Associated DNMT3A Mutations Reduce Protein Stability and May be Associated with Poorer Prognosis

Understanding the Role of CSF3R and Runx1 Runt Homology Domain Missense Mutations in Leukemic Transformation of Hematopoietic Stem Cells

Two Novel Compound Heterozygous Pathogenic Variants in P2YR12 gene

Splicing Control in Normal and Aberrant Erythropoiesis

CIC-Mutation As a Potential Molecular Mechanism of Acquired Resistance to Combined BRAF/MEK Inhibition in CNS Multiple Myeloma

Human CTL-based functional analysis shows the reliability of a munc13-4 protein expression assay for FHL3 diagnosis

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American Society of Hematology

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American Society of Hematology

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