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Journal Articles

An Autosomal Dominant SCID Form Due to a Gain of Function Mutation in the RAC2 Gene

Chantal Lagresle-Peyrou, PhD, Aurélien Olichon, Hanem Sadek, Philippe Roche, Claudine Tardy, Cindy Da Silva, Alexandrine Garrigue, Alain Fischer, MD PhD, Despina Moshous, MD PhD, Yves Collette, Capucine Picard, MD PhD, Jean-Laurent Casanova, PhD MD, Isabelle André, PhD, Marina Cavazzana, MD PhD

Blood (2019) 134 (Supplement_1): 3742.

https://doi.org/10.1182/blood-2019-126855

Published: 2019

Journal Articles

A Gain of Function Mutation in the NSD2 Histone Methyltransferase Drives Glucocorticoid Resistance Via Blocking Receptor Auto-Induction and BIM/Bmf Expression in ALL

Blood (2019) 134 (Supplement_1): 3758.

https://doi.org/10.1182/blood-2019-126910

Published: 2019

Journal Articles

A Gain of Function Mutation in the NSD2 Histone Methyltransferase Drives Glucocorticoid Resistance of Acute Lymphoblastic Leukemia

Jianping Li, MD, Catalina Troche, PhD, Alok Swaroop, PhD, Marta Kulis, PhD, Jon Oyer, PhD, Christine Will, MS, Daphne Dupere-Richer, PhD, Alberto Riva, PhD, Crissandra Pipe, LATG, Sharon Norton, MS, Richard Lynn Bennett, PhD, Jonathan D. Licht, MD

Blood (2018) 132 (Supplement 1): 653.

https://doi.org/10.1182/blood-2018-99-116309

Published: 2018

Journal Articles

A Novel Role for PIEZO1 in Calcium Homeostasis during Erythropoiesis

Francesca Aglialoro, MSc, Nurcan Yagci, Marieke von Lindern, PhD, Richard van Wijk, PhD, Emile van den Akker, PhD

Blood (2018) 132 (Supplement 1): 2321.

https://doi.org/10.1182/blood-2018-99-110454

Published: 2018

Journal Articles

Clonal Evolution in the Setting of Germline Predisposition

Anna L Brown, PhD, Jane Churpek, MD, Christopher N Hahn, PhD, Hamish S Scott, BSc, PhD FFSc (RCPA), FAHMS

Blood (2017) 130 (Supplement 1): SCI-39.

https://doi.org/10.1182/blood.V130.Suppl_1.SCI-39.SCI-39

Published: 2017

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

Allele-Specific Crispr Targeting Reveals Epigenetic and Phenotypic Effects of a MMSET Gain of Function Mutation Found in Relapsed Acute Lymphoblastic Leukemia

Jon Oyer, PhD, Christine Will, M.S., Xiaoxiao Huang, Teresa Ezponda, PhD, Relja Popovic, PhD, Yupeng Zheng, PhD, Neil L Kelleher, PhD, Jonathan D. Licht, MD

Blood (2015) 126 (23): 437.

https://doi.org/10.1182/blood.V126.23.437.437

Published: 2015

Journal Articles

The JAK Inhibitor Ruxolitinib Is Effective in Treating T Cell Acute Lymphoblastic Leukemia with Gain of Function Mutations in IL-7R Alpha

Emilee Senkevitch, PhD BS, Julie Hixon, Caroline Andrews, Joao T Barata, PhD, Wenqing Li, Scott Durum

Blood (2015) 126 (23): 1330.

https://doi.org/10.1182/blood.V126.23.1330.1330

Published: 2015

Journal Articles

Successful Therapy of a Patient with a Novel STAT1 Gain of Function Mutation and Life-Threatening Cytopenias with Janus Kinase Inhibitor Ruxolitinib

Katja G. Weinacht, MD PhD, Louis m Charbonnier, PhD, Ashley Plant, MD, Troy Torgerson, MD PhD, Sergei Rosenzweig, MD PhD, Thomas Fleisher, MD PhD, Luigi Daniele Notarangelo, MD

Blood (2015) 126 (23): 3434.

https://doi.org/10.1182/blood.V126.23.3434.3434

Published: 2015

Journal Articles

Thymocyte Reprogramming by the Scl, Lmo1 and Notch1 Oncogenes

Bastien Gerby, PhD, Cedric Stevens Tremblay, Ph.D, Mathieu Tremblay, Ph.D, Shanti Rojas-Sutterlin, MSc, Trang Hoang, PhD

Blood (2012) 120 (21): 207.

https://doi.org/10.1182/blood.V120.21.207.207

Published: 2012

Journal Articles

Differential Expression and Functions of NOTCH Family Members and Involvement of NR4A1 in the Regulation of Apoptosis in CLL

Rainer Hubmann, Martin Hilgarth, Susanne Schnabl, Elena Ponath, Dita Demirtas, Marlies Reiter, Ulrich Jäger, Medhat Shehata

Blood (2012) 120 (21): 3919.

https://doi.org/10.1182/blood.V120.21.3919.3919

Published: 2012

Journal Articles

Whole Genome Sequencing Identifies Recurring Somatic Mutations in the C-Terminal Domain of CXCR4, Including a Gain of Function Mutation in Waldenstrom's Macroglobinemia.

Yang Cao, MD, Lian Xu, Xia Liu, MD, Yangsheng Zhou, MD, Guang Yang, MD, Christopher J Patterson, Steven Peter Treon, MD, MA, PhD, Zachary Hunter

Blood (2012) 120 (21): 2715.

https://doi.org/10.1182/blood.V120.21.2715.2715

Published: 2012

Journal Articles

New Insights on Assessing Intra-Family Selectivity for Jak2 Inhibitors

Liqin Liu, Violeta Yu, Jeanne Pistillo, Josie Lee, Laurie B Schenkel, Stephanie Geuns-Meyer, Ivonne Archibeque, Angus Sinclair, Renee Emkey, Graham Molineux

Blood (2011) 118 (21): 5150.

https://doi.org/10.1182/blood.V118.21.5150.5150

Published: 2011

Journal Articles

A Novel PHD2 Mutation Associated with Tibetan Genetic Adaptation to High Altitude Hypoxia.

Felipe R Lorenzo V, M.D., PhD., Tatum S Simonson, Yingzhong Yang, Rili Ge, Josef T. Prchal, MD

Blood (2010) 116 (21): 2602.

https://doi.org/10.1182/blood.V116.21.2602.2602

Published: 2010

Journal Articles

Integrative Analysis of Genomic Aberration and Gene Expression Suggests That MPD with Loss of Heterozygosity or Gain of Chromosome 9 Represents a Distinct Entity

Weijia Zhang, PhD, Benjamin L. Ebert, MD, DPhil, Windy Berkofsky-Fessler, PhD, Monica Buzzai, PhD, Yezhou Sun, MSc, Caixia Xi, MSc, Ross L Levine, MD, D. Gary Gilliland, MD, PhD, Jonathan D. Licht, MD

Blood (2008) 112 (11): 3735.

https://doi.org/10.1182/blood.V112.11.3735.3735

Published: 2008

Journal Articles

Analysis of Mutant cMPL in Philadelphia Chromosome-Negative Myeloproliferative Disorders (Ph − MPDs) Using a Novel High-Sensitivity Assay.

Scott J. Samuelson, MD, Sabina Swierczek, Ph.D., Charles J. Parker, M.D., Kenneth Boucher, Ph.D., Jaroslav Jelinek, M.D., Josef Prchal, M.D.

Blood (2007) 110 (11): 2544.

https://doi.org/10.1182/blood.V110.11.2544.2544

Published: 2007

Journal Articles

Notch1 Provides a Proliferative Signal in Mouse T Cell Leukemia by Directly Targeting c-Myc.

Kyle M. Draheim, BS, Vishva M. Sharma, PhD, Jennifer A. Calvo, PhD, Leslie A. Cunningham, BS, Nicole Hermance, BA, Veena Krishnamoorthy, BS, Levi Beverly, Manoj Bhasin, PhD, Anthony Capobianco, PhD, Michelle A. Kelliher, PhD

Blood (2006) 108 (11): 1434.

https://doi.org/10.1182/blood.V108.11.1434.1434

Published: 2006

Journal Articles

A Gain of Function Mutation in JAK2 Is Frequently Found in Patients with AML-M2 and Normal Karyotype.

Nerea Marcotegui, BSc, Idoya Lahortiga, PhD, Iria Vazquez, BSc, Jose L. Vizmanos, PhD, Ion Cristobal, BSc, Cristina Ormazabal, BSc, Eva Bandres, PhD, Maria J. Larrayoz, BSc, Carmen Vicente, BSc, Maria J. Calasanz, PhD, María D. Odero, MD, PhD

Blood (2005) 106 (11): 2366.

https://doi.org/10.1182/blood.V106.11.2366.2366

Published: 2005

Journal Articles

Functional Analysis of Leukemia-Associated Mutations Involving the Heterodimerization Domain of NOTCH1.

Cheryll Sanchez-Irizarry, Michael Malecki, Woojoong Lee, Mina Xu, Stephen C. Blacklow, MD, PhD, Jon C. Aster, MD, PhD

Blood (2005) 106 (11): 843.

https://doi.org/10.1182/blood.V106.11.843.843

Published: 2005

Journal Articles

Activation mutations of human c-KIT resistant to imatinib mesylate are sensitive to the tyrosine kinase inhibitor PKC412

Joseph D. Growney, Jennifer J. Clark, Jennifer Adelsperger, Richard Stone, Doriano Fabbro, James D. Griffin, D. Gary Gilliland

Blood (2005) 106 (2): 721–724.

https://doi.org/10.1182/blood-2004-12-4617

Published: 2005

NARROW

An Autosomal Dominant SCID Form Due to a Gain of Function Mutation in the RAC2 Gene

A Gain of Function Mutation in the NSD2 Histone Methyltransferase Drives Glucocorticoid Resistance Via Blocking Receptor Auto-Induction and BIM/Bmf Expression in ALL

A Gain of Function Mutation in the NSD2 Histone Methyltransferase Drives Glucocorticoid Resistance of Acute Lymphoblastic Leukemia

A Novel Role for PIEZO1 in Calcium Homeostasis during Erythropoiesis

Clonal Evolution in the Setting of Germline Predisposition

A Dominant Mutation in Mitochondrial Unfoldase CLPX Results in Erythropoietic Protoporphyria

Allele-Specific Crispr Targeting Reveals Epigenetic and Phenotypic Effects of a MMSET Gain of Function Mutation Found in Relapsed Acute Lymphoblastic Leukemia

The JAK Inhibitor Ruxolitinib Is Effective in Treating T Cell Acute Lymphoblastic Leukemia with Gain of Function Mutations in IL-7R Alpha

Successful Therapy of a Patient with a Novel STAT1 Gain of Function Mutation and Life-Threatening Cytopenias with Janus Kinase Inhibitor Ruxolitinib

Thymocyte Reprogramming by the Scl, Lmo1 and Notch1 Oncogenes

Differential Expression and Functions of NOTCH Family Members and Involvement of NR4A1 in the Regulation of Apoptosis in CLL

Whole Genome Sequencing Identifies Recurring Somatic Mutations in the C-Terminal Domain of CXCR4, Including a Gain of Function Mutation in Waldenstrom's Macroglobinemia.

New Insights on Assessing Intra-Family Selectivity for Jak2 Inhibitors

A Novel PHD2 Mutation Associated with Tibetan Genetic Adaptation to High Altitude Hypoxia.

Integrative Analysis of Genomic Aberration and Gene Expression Suggests That MPD with Loss of Heterozygosity or Gain of Chromosome 9 Represents a Distinct Entity

Analysis of Mutant cMPL in Philadelphia Chromosome-Negative Myeloproliferative Disorders (Ph − MPDs) Using a Novel High-Sensitivity Assay.

Notch1 Provides a Proliferative Signal in Mouse T Cell Leukemia by Directly Targeting c-Myc.

A Gain of Function Mutation in JAK2 Is Frequently Found in Patients with AML-M2 and Normal Karyotype.

Functional Analysis of Leukemia-Associated Mutations Involving the Heterodimerization Domain of NOTCH1.

Activation mutations of human c-KIT resistant to imatinib mesylate are sensitive to the tyrosine kinase inhibitor PKC412

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American Society of Hematology

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ASH Publications

American Society of Hematology

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