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Journal Articles

Diamond-Blackfan anemia

Lydie Da Costa, Thierry Leblanc, Narla Mohandas

Blood (2020) 136 (11): 1262–1273.

https://doi.org/10.1182/blood.2019000947

Published: 2020

Journal Articles

Site-specific methylation of 18S ribosomal RNA by SNORD42A is required for acute myeloid leukemia cell proliferation

Cornelius Pauli, Yi Liu, Christian Rohde, Chunhong Cui, Daria Fijalkowska, Dennis Gerloff, Carolin Walter, Jeroen Krijgsveld, Martin Dugas, Bayram Edemir, Caroline Pabst, Lutz P. Müller, Fengbiao Zhou, Carsten Müller-Tidow

Blood (2020) 135 (23): 2059–2070.

https://doi.org/10.1182/blood.2019004121

Published: 2020

Includes: Supplemental data

Journal Articles

Disease Modeling and Phenotype Rescue Using Inducible Pluripotent Stem Cells from Patients with Diamond-Blackfan Anemia

Senthil Velan Bhoopalan, MD PhD, Min-Joon Han, PhD, Steven Ellis, PhD, Harry Lesmana, MD, Jeremie H. Estepp, MD, Yoonjeong Jang, DVM,PhD, Mitchell J. Weiss, MD PhD, Marcin W. Wlodarski, MD PhD

Blood (2019) 134 (Supplement_1): 2496.

https://doi.org/10.1182/blood-2019-131354

Published: 2019

Journal Articles

Hypoxia Dependent and Independent Dysregulation of the Transcriptome in Sickle Cell Anemia

Xu Zhang, PhD, Jihyun Song, PhD, Binal N. Shah, Taif Hassan, Galina Miasnikova, MD, Adelina Sergueeva, MD, Josef T. Prchal, MD, Victor R Gordeuk, MD

Blood (2019) 134 (Supplement_1): 2262.

https://doi.org/10.1182/blood-2019-132078

Published: 2019

Journal Articles

Transcriptome Analysis of Pediatric AML Reveals Non Protein-Coding RNAs Associated with Poor Survival Outcome and Treatment Resistance

Lisa Wei, BS, Rhonda E. Ries, MA, Patrick Plettner, Karen Mungall, PhD, Andrew J. Mungall, PhD, Soheil Meshinchi, MD PhD, Marco A. Marra, PhD

Blood (2019) 134 (Supplement_1): 2675.

https://doi.org/10.1182/blood-2019-132008

Published: 2019

Journal Articles

Loss of METTL3 Mediated m6A RNA Modification Results in Double-Stranded RNA Induced Innate Immune Response and Hematopoietic Failure

Blood (2019) 134 (Supplement_1): 450.

https://doi.org/10.1182/blood-2019-130442

Published: 2019

Journal Articles

The Inherited MDS Gene DDX41 Is Required for Ribosome Biogenesis and Cell Viability

Timothy M Chlon, PhD, Emily Stepanchick, Kwangmin Choi, PhD, Yi Zheng, PhD, Kathleen Hueneman, Ashley Davis, Daniel T. Starczynowski, PhD

Blood (2019) 134 (Supplement_1): 773.

https://doi.org/10.1182/blood-2019-127471

Published: 2019

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

The Non-Canonical, R-Loop Regulatory Function of PIWIL4 Maintains Genomic Integrity and Leukemic Potential of AML Cells

Shiva Bamezai, PhD, Naidu Vegi, PhD, Alex Pulikkottil Jose, Julia Müller, BSc., Ingrid Grummt, Chenlin Song, PhD, Konstanze Döhner, MD, Hartmut Döhner, MD, Michaela Feuring-Buske, MD, Vijay Pal Singh Rawat, PhD, Christian Buske, MD

Blood (2018) 132 (Supplement 1): 879.

https://doi.org/10.1182/blood-2018-99-113281

Published: 2018

Journal Articles

A Small Nucleolar RNA Linked to Diamond-Blackfan Anemia

Adeline Mayeux, Nathalie Montel-Lehry, Manon Saby, Aurore Anton, Narjesse Karboul, Julie Galimand, Helene Bourdeau, Jonathan Levy, Anne-claude Tabet, Mohandas Narla, DSc, Alyson W. MacInnes, Pascale Dufourcq, Patrick Blader, Thierry Leblanc, Marie-francoise O' Donohue, Pierre-Emmanuel Gleizes, Lydie Da Costa

Blood (2018) 132 (Supplement 1): 1299.

https://doi.org/10.1182/blood-2018-99-110663

Published: 2018

Journal Articles

Human Reticulocytes Express More RUVBL1 Than Mature Human Erythrocytes

Beverly W Baron, Joseph M. Baron, MD

Blood (2017) 130 (Supplement 1): 4745.

https://doi.org/10.1182/blood.V130.Suppl_1.4745.4745

Published: 2017

Journal Articles

Hypoxic Response-Dependent Genetic Regulation Revealed By Allele-Specific Expression in Reticulocytes of Chuvash Polycythemia

Xu Zhang, PhD, Jihyun Song, PhD, Binal N. Shah, PhD, Galina Miasnikova, MD, Adelina Sergueeva, MD, Josef T. Prchal, MD, Victor R. Gordeuk, MD

Blood (2017) 130 (Supplement 1): 926.

https://doi.org/10.1182/blood.V130.Suppl_1.926.926

Published: 2017

Journal Articles

New Bone Marrow Failure Genes: DNAJC21 and ERCC6L2

Inderjeet Dokal, MD

Blood (2017) 130 (Supplement 1): SCI-22.

https://doi.org/10.1182/blood.V130.Suppl_1.SCI-22.SCI-22

Published: 2017

Journal Articles

RNA Polymerase 1 Transcription Inhibitor CX-5461 in Patients with Advanced Hematologic Malignancies: Results of a Phase I First in Human Study

Amit Khot, MBBS, MD MRCP, FRCPath, FRACP, Natalie Brajanovski, BSc, Donald P Cameron, BSc, Gretchen Poortinga, PhD, Elaine Sanij, PhD, John Lim, PharmD, John Soong, MD FCAP, Nadine Hein, PhD, Emma Link, DPhil, Richard B Pearson, PhD, Ross Hannan, Grant A. McArthur, MBBS, PhD BSc, FRACP, Simon J. Harrison, MBBS,MRCP,FRCPath,FRACP,PhD

Blood (2017) 130 (Supplement 1): 3835.

https://doi.org/10.1182/blood.V130.Suppl_1.3835.3835

Published: 2017

Journal Articles

APTO-253 Interaction with G-Quadruplex DNA Is Linked to Inhibition of c-Myc Expression, Induction of DNA Damage, and Generation of Synthetic Lethality in Cells with BRCA1/2 Impairment

Andrea Local, PhD, Hongying Zhang, MD, Khalid Benbatoul, BS, Peter Folger, BS, Susan Sheng, PhD, Cheng-Yu Tsai, PhD, Stephen Howell, MD, William Rice, PhD

Blood (2017) 130 (Supplement 1): 5094.

https://doi.org/10.1182/blood.V130.Suppl_1.5094.5094

Published: 2017

Journal Articles

Fetal Erythropoiesis Is Defective in Rpl11 Heterozygous Mice and Increases in Severity in Young Animals

Dolly Thomas, PhD, Cailin Joyce, PhD, Robert A. Redd, MS, Bertil Glader, MD, Steven Ellis, PhD, Donna S. Neuberg, ScD, Meaghan McGuinness, BS, Colin A. Sieff, MB, BCh, Carl D. Novina, MD PhD

Blood (2017) 130 (Supplement 1): 872.

https://doi.org/10.1182/blood.V130.Suppl_1.872.872

Published: 2017

Journal Articles

Diamond-Blackfan Anemia Phenotype Caused By Deficiency of Adenosine Deaminase 2

Blood (2017) 130 (Supplement 1): 874.

https://doi.org/10.1182/blood.V130.Suppl_1.874.874

Published: 2017

Journal Articles

Mutations in Ribosomal Protein Genes L9 and L15 Link to DBA with Specific Clinical Phenotypes

Marcin W. Wlodarski, MD PhD, Lydie M. Da Costa, MD PhD, Marie-Francoise O'-Donohue, Marc Gastou, Ina Hainmann, Enikoe Amina Szvetnik, Thierry Leblanc, MD, Marc Bierings, MD PhD, Nathalie Montel-Lehry, Hannah Tamary, MD, Charlotte M. Niemeyer, MD, Pierre-Emmanuel Gleizes, Alyson W. MacInnes

Blood (2017) 130 (Supplement 1): 1172.

https://doi.org/10.1182/blood.V130.Suppl_1.1172.1172

Published: 2017

Journal Articles

Niche Regulation of Residual Hematopoietic Stem Cell Protein Synthesis By Extracellular Vesicle (EV) Trafficking in the Acute Myeloid Leukemia (AML) Microenvironment

Sherif Abdelhamed, PhD, John T Butler, MLS(ASCP), Ben Doron, BS, Mu-Shui Dai, MDPhD, Peter Kurre, MD

Blood (2017) 130 (Supplement 1): 2442.

https://doi.org/10.1182/blood.V130.Suppl_1.2442.2442

Published: 2017

Journal Articles

Preferential In Vitro and In Vivo Induction of Endogenous Retrovirus Transcription from a Monoallelic Chromosome 7q in Decitabine (DAC) Treated AML Blasts

Gabriele Greve, Dietmar Pfeifer, Sina Bengel, Michael Lübbert

Blood (2017) 130 (Supplement 1): 2612.

https://doi.org/10.1182/blood.V130.Suppl_1.2612.2612

Published: 2017

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Diamond-Blackfan anemia

Site-specific methylation of 18S ribosomal RNA by SNORD42A is required for acute myeloid leukemia cell proliferation

Disease Modeling and Phenotype Rescue Using Inducible Pluripotent Stem Cells from Patients with Diamond-Blackfan Anemia

Hypoxia Dependent and Independent Dysregulation of the Transcriptome in Sickle Cell Anemia

Transcriptome Analysis of Pediatric AML Reveals Non Protein-Coding RNAs Associated with Poor Survival Outcome and Treatment Resistance

Loss of METTL3 Mediated m6A RNA Modification Results in Double-Stranded RNA Induced Innate Immune Response and Hematopoietic Failure

The Inherited MDS Gene DDX41 Is Required for Ribosome Biogenesis and Cell Viability

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

The Non-Canonical, R-Loop Regulatory Function of PIWIL4 Maintains Genomic Integrity and Leukemic Potential of AML Cells

A Small Nucleolar RNA Linked to Diamond-Blackfan Anemia

Human Reticulocytes Express More RUVBL1 Than Mature Human Erythrocytes

Hypoxic Response-Dependent Genetic Regulation Revealed By Allele-Specific Expression in Reticulocytes of Chuvash Polycythemia

New Bone Marrow Failure Genes: DNAJC21 and ERCC6L2

RNA Polymerase 1 Transcription Inhibitor CX-5461 in Patients with Advanced Hematologic Malignancies: Results of a Phase I First in Human Study

APTO-253 Interaction with G-Quadruplex DNA Is Linked to Inhibition of c-Myc Expression, Induction of DNA Damage, and Generation of Synthetic Lethality in Cells with BRCA1/2 Impairment

Fetal Erythropoiesis Is Defective in Rpl11 Heterozygous Mice and Increases in Severity in Young Animals

Diamond-Blackfan Anemia Phenotype Caused By Deficiency of Adenosine Deaminase 2

Mutations in Ribosomal Protein Genes L9 and L15 Link to DBA with Specific Clinical Phenotypes

Niche Regulation of Residual Hematopoietic Stem Cell Protein Synthesis By Extracellular Vesicle (EV) Trafficking in the Acute Myeloid Leukemia (AML) Microenvironment

Preferential In Vitro and In Vivo Induction of Endogenous Retrovirus Transcription from a Monoallelic Chromosome 7q in Decitabine (DAC) Treated AML Blasts

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