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Journal Articles

RUNX-1 haploinsufficiency causes a marked deficiency of megakaryocyte-biased hematopoietic progenitor cells

Brian Estevez, Sara Borst, Danuta Jarocha, Varun Sudunagunta, Michael Gonzalez, James Garifallou, Hakon Hakonarson, Peng Gao, Kai Tan, Paul Liu, Sumedha Bagga, Nicholas Holdreith, Wei Tong, Nancy Speck, Deborah L. French, Paul Gadue, Mortimer Poncz

Blood (2021) 137 (19): 2662–2675.

https://doi.org/10.1182/blood.2020006389

Published: 2021

Includes: Supplemental data

Journal Articles

Role of c-Myc haploinsufficiency in the maintenance of HSCs in mice

Yue Sheng, Rui Ma, Chunjie Yu, Qiong Wu, Steven Zhang, Kimberly Paulsen, Jiwang Zhang, Hongyu Ni, Yong Huang, Yi Zheng, Zhijian Qian

Blood (2021) 137 (5): 610–623.

https://doi.org/10.1182/blood.2019004688

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

Calreticulin haploinsufficiency augments stem cell activity and is required for onset of myeloproliferative neoplasms in mice

Kotaro Shide, Takuro Kameda, Ayako Kamiunten, Yoshinori Ozono, Yuki Tahira, Takako Yokomizo-Nakano, Sho Kubota, Masaya Ono, Kazuhiko Ikeda, Masaaki Sekine, Keiichi Akizuki, Kenichi Nakamura, Tomonori Hidaka, Yoko Kubuki, Hisayoshi Iwakiri, Satoru Hasuike, Kenji Nagata, Goro Sashida, Kazuya Shimoda

Blood (2020) 136 (1): 106–118.

https://doi.org/10.1182/blood.2019003358

Published: 2020

Includes: Supplemental data

Journal Articles

Combinatorial Genetics Uncovers Novel Targets for the Treatment of Npm1/Cohesin Mutated AML

Alison E Meyer, PhD, Cary Stelloh, Joseph B Fisher, PhD, Kirthi Pulakanti, George S. Vassiliou, FRCPath, MRCP, PhD, Aaron D Viny, MDMS, Ross L. Levine, MD, Sridhar Rao, MD PhD

Blood (2019) 134 (Supplement_1): 2515.

https://doi.org/10.1182/blood-2019-126042

Published: 2019

Journal Articles

Loss-of-Function and Gain-of-Function Consequences of GATA2 Disease Mutations

Koichi Ricardo Katsumura, MD PhD, Peng Liu, PhD, Charu Mehta, MS, Kyle J Hewitt, PhD, Alexandra Soukup, PhD, Isabela J Fraga de Andrade, Bachelors in Biological Science, Erik A. Ranheim, MD PhD, Kirby D Johnson, PhD, Emery H Bresnick, PhD

Blood (2019) 134 (Supplement_1): 2519.

https://doi.org/10.1182/blood-2019-129447

Published: 2019

Journal Articles

Deconstructing the Clonal Advantage and Clonal Stability of 5q- Candidate Genes in Del(5q) MDS on a Single Cell Level

Ursula S.A. Stalmann, MD, Fabio Ticconi, MSc, Ronghui Li, MSc, Aaron B. Wong, PhD, Glenn Cowley, PhD, David E. Root, PhD, Dirk Heckl, PhD, Inge Snoeren, MSc, Sergio Martinez, PhDMSc, Tim H Brümmendorf, MD, Andreas Schuppert, PhD, Ivan Costa, PhD, Benjamin L. Ebert, MD PhD, Rebekka K. Schneider, MD PhD

Blood (2019) 134 (Supplement_1): 559.

https://doi.org/10.1182/blood-2019-122588

Published: 2019

Journal Articles

Synthetic Lethality-Based Approach Identified EED and BRD4 As Critical Survival Factorsin Acte Myeloid Leukemia with Monosomy 7

Kensuke Matsuda, MD, Yuki Kagoya, MD PhD, Sho Yamazaki, MD PhD, Masashi Miyauchi, MD PhD, Mineo Kurokawa, MD PhD

Blood (2019) 134 (Supplement_1): 1233.

https://doi.org/10.1182/blood-2019-123595

Published: 2019

Journal Articles

FoxM1 Haploinsufficiency Drives Clonal Hematopoiesis

Chunjie Yu, PhD, Yue Sheng, PhD, Zhijian Qian, PhD

Blood (2019) 134 (Supplement_1): 726.

https://doi.org/10.1182/blood-2019-128429

Published: 2019

Journal Articles

The Inherited Platelet Disorder of RUNX1 Haploinsufficiency (Familial Platelet Disorder with Associated Myeloid Malignancy (FPDMM)) Has a Marked Deficiency of Megakaryocyte-Biased Hematopoietic Progenitor Cells: Mechanistic Studies and Drug Correction

Brian Estevez, PhD, Sara Borst, BS, Danuta Jadwiga Jarocha, PhD, Varun Sudunagunta, Michael Gonzalez, PhD, Peng Gao, Kai Tan, Deborah L French, PhD, Paul Gadue, PhD, Mortimer Poncz, MD

Blood (2019) 134 (Supplement_1): 220.

https://doi.org/10.1182/blood-2019-124851

Published: 2019

Journal Articles

Molecular Dissection of Del(5q): Distinction between Primary and Secondary Del(5q) and Pathogenetic Implications

Vera Adema, PhD, Laura Palomo, Cassandra M Kerr, MS, Wencke Walter, PhD, Bartlomiej Przychodzen, Stephan Hutter, PhD, Thomas Laframboise, PhD, María Díez-Campelo, MD PhD, Mar Mallo, PhD, Aziz Nazha, MD, Blanca Xicoy, MD MSc, Manja Meggendorfer, PhD, Hetty E. Carraway, MD MBA, Claudia Haferlach, MD, Mikkael A. Sekeres, MD MS, Valeria Visconte, PhD, Torsten Haferlach, MD, Francesc Sole, PhD, Jaroslaw P. Maciejewski, MD PhD

Blood (2019) 134 (Supplement_1): 4221.

https://doi.org/10.1182/blood-2019-129292

Published: 2019

Journal Articles

Chromatin occupancy and epigenetic analysis reveal new insights into the function of the GATA1 N terminus in erythropoiesis

Te Ling, Yehudit Birger, Monika J. Stankiewicz, Nissim Ben-Haim, Tomer Kalisky, Avigail Rein, Eitan Kugler, Wei Chen, Chunling Fu, Kevin Zhang, Hiral Patel, Jacek W. Sikora, Young Ah Goo, Neil Kelleher, Lihua Zou, Shai Izraeli, John D. Crispino

Blood (2019) 134 (19): 1619–1631.

https://doi.org/10.1182/blood.2019001234

Published: 2019

Includes: Supplemental data

Journal Articles

Phenotypes of Diamond Blackfan Anemia Patients with RPL35A Haploinsufficiency Due to 3q29 Deletion Compared with RPL35A Single Nucleotide Variants or Small Insertion/Deletions

Neelam Giri, MD, Matthew Gianferante, MD, Evangelia Atsidaftos, MA, MPH, Marcin W. Wlodarski, MD PhD, Paola Quarello, MD, Jana Volejnikova, MD, Polyxeni Delaporta, MD, Vijay G. Sankaran, MD PhD, Jason E. Farrar, MD, Maryam Hussain, MPH, Lisa J. McReynolds, MD PhD, Antonis Kattamis, Jeffrey M Lipton, MD PhD, Charlotte Niemeyer, MD, Dagmar Pospisilova, MD PhD, Ugo Ramenghi, MD, Sharon A. Savage, MD, Adrianna Vlachos, MD, Blanche P. Alter, MD MPH

Blood (2018) 132 (Supplement 1): 3854.

https://doi.org/10.1182/blood-2018-99-117171

Published: 2018

Journal Articles

Management of Cytopenias in CTLA4 Haploinsufficiency Using Abatacept and Sirolimus

Gulbu Uzel, MD, Djuro Karanovic, MD, Hua Su, PhD, Amy Rump, Anahita Agharahimi, Steven M. Holland, MD, V. Koneti Rao, MD FRCPA

Blood (2018) 132 (Supplement 1): 2409.

https://doi.org/10.1182/blood-2018-99-120185

Published: 2018

Journal Articles

Combinatorial Genetics Uncovers Novel Targets for the Treatment of Npm1/Cohesin Mutated AML

Alison E Meyer, PhD, Cary Stelloh, Joseph B Fisher, PhD, Kirthi Pulakanti, George S. Vassiliou, Aaron D Viny, MD MS, Ross L. Levine, MD, Sridhar Rao, MD PhD

Blood (2018) 132 (Supplement 1): 2598.

https://doi.org/10.1182/blood-2018-99-113011

Published: 2018

Journal Articles

Cell Intrinsic and Extrinsic Mechanisms Mediate the Role of c-Myc Haploinsufficiency in Controlling HSC Fate

Yue Sheng, PhD, Chunjie Yu, PhD, Rui Ma, Master, Zhijian Qian, PhD

Blood (2018) 132 (Supplement 1): 2561.

https://doi.org/10.1182/blood-2018-99-116975

Published: 2018

Journal Articles

Haploinsufficiency of CALR Confers Hematopoietic Stem Cells (HSCs) with a Clonal Advantage over Wild-Type Cells, and, in Setting of Myeloproliferative Neoplasms, Compensates for the Functions of HSCs Impaired By the Calr Mutation

Kotaro Shide, MD PhD, Takuro Kameda, MD, Ayako Kamiunten, MD, Masaaki Sekine, MD, Yoshinori Ozono, MD, Takako Yokomizo, PhD, Keiichi Akizuki, MD, Yuki Tahira, MD, Yoko Kubuki, MD PhD, Tomonori Hidaka, MD, Goro Sashida, MD PhD, Kazuya Shimoda, MD PhD

Blood (2018) 132 (Supplement 1): 97.

https://doi.org/10.1182/blood-2018-99-114304

Published: 2018

Journal Articles

Global Chromatin Occupancy and Epigenetic Signature Analysis Reveal New Insights into the Function of GATA1 N-Terminus in Erythropoiesis

Te Ling, PhD, Yehudit Birger, PhD, Monika Stankiewicz, PhD, Nissim Ben-Haim, Itamar Kanter, Tomer Kalisky, Avigail Rein Gil, MD, Neil L Kelleher, PhD, Lihua Zou, PhD, Shai Izraeli, MD, John D. Crispino, PhD MBA

Blood (2018) 132 (Supplement 1): 533.

https://doi.org/10.1182/blood-2018-99-115338

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

Haploinsufficiency for NR3C1 Drives Glucocorticoid Resistance By Inactivation the PI3K/AKT/GSK3β/Bim Pathway in Adult Acute Lymphoblastic Leukemia

Xiao Haowen, MD PhD, Yingying Ding, Yang Gao, Limengmeng Wang, PhD, Huafang Wang, Xiaohong Yu, He Huang, MD PhD

Blood (2018) 132 (Supplement 1): 1328.

https://doi.org/10.1182/blood-2018-99-120089

Published: 2018

NARROW

RUNX-1 haploinsufficiency causes a marked deficiency of megakaryocyte-biased hematopoietic progenitor cells

Role of c-Myc haploinsufficiency in the maintenance of HSCs in mice

Somatic genetic rescue in hematopoietic cells in GATA2 deficiency

Calreticulin haploinsufficiency augments stem cell activity and is required for onset of myeloproliferative neoplasms in mice

Combinatorial Genetics Uncovers Novel Targets for the Treatment of Npm1/Cohesin Mutated AML

Loss-of-Function and Gain-of-Function Consequences of GATA2 Disease Mutations

Deconstructing the Clonal Advantage and Clonal Stability of 5q- Candidate Genes in Del(5q) MDS on a Single Cell Level

Synthetic Lethality-Based Approach Identified EED and BRD4 As Critical Survival Factorsin Acte Myeloid Leukemia with Monosomy 7

FoxM1 Haploinsufficiency Drives Clonal Hematopoiesis

The Inherited Platelet Disorder of RUNX1 Haploinsufficiency (Familial Platelet Disorder with Associated Myeloid Malignancy (FPDMM)) Has a Marked Deficiency of Megakaryocyte-Biased Hematopoietic Progenitor Cells: Mechanistic Studies and Drug Correction

Molecular Dissection of Del(5q): Distinction between Primary and Secondary Del(5q) and Pathogenetic Implications

Chromatin occupancy and epigenetic analysis reveal new insights into the function of the GATA1 N terminus in erythropoiesis

Phenotypes of Diamond Blackfan Anemia Patients with RPL35A Haploinsufficiency Due to 3q29 Deletion Compared with RPL35A Single Nucleotide Variants or Small Insertion/Deletions

Management of Cytopenias in CTLA4 Haploinsufficiency Using Abatacept and Sirolimus

Combinatorial Genetics Uncovers Novel Targets for the Treatment of Npm1/Cohesin Mutated AML

Cell Intrinsic and Extrinsic Mechanisms Mediate the Role of c-Myc Haploinsufficiency in Controlling HSC Fate

Haploinsufficiency of CALR Confers Hematopoietic Stem Cells (HSCs) with a Clonal Advantage over Wild-Type Cells, and, in Setting of Myeloproliferative Neoplasms, Compensates for the Functions of HSCs Impaired By the Calr Mutation

Global Chromatin Occupancy and Epigenetic Signature Analysis Reveal New Insights into the Function of GATA1 N-Terminus in Erythropoiesis

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

Haploinsufficiency for NR3C1 Drives Glucocorticoid Resistance By Inactivation the PI3K/AKT/GSK3β/Bim Pathway in Adult Acute Lymphoblastic Leukemia

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American Society of Hematology

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American Society of Hematology

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