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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

Whole Genome Sequencing Identifies Small Deletions in Ribosomal Genes Causing Diamond Blackfan Anemia

David M. Bodine, PhD, Jens Lichtenberg, Nancy Seidel, NISC Comparative SequencingProgram, G. Jayashree Jagadeesh, John G Conboy, PhD, Jason E. Farrar, MD, Jessica Kang, BS, Lionel Blanc, PhD, Evangelia Atsidaftos, MA, MPH, Steven Ellis, PhD, Jeffrey Michael M Lipton, MD PhD, Adrianna Vlachos, MD

Blood (2019) 134 (Supplement_1): 2502.

https://doi.org/10.1182/blood-2019-121710

Published: 2019

Journal Articles

Whole Genome Sequencing to Detect Small Deletions in Ribosomal Protein Genes in Diamond Blackfan Anemia Patients

Jens Lichtenberg, Jason E. Farrar, MD, David Chelimo, Frederick Horne, NISC Comparative Sequencing Program, Steven Ellis, PhD, Adrianna Vlachos, MD, Jeffrey H. Lipton, PhD MD FRCPC, David M. Bodine, PhD

Blood (2017) 130 (Supplement 1): 1174.

https://doi.org/10.1182/blood.V130.Suppl_1.1174.1174

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

Mice with ribosomal protein S19 deficiency develop bone marrow failure and symptoms like patients with Diamond-Blackfan anemia

Pekka Jaako, Johan Flygare, Karin Olsson, Ronan Quere, Mats Ehinger, Adrianna Henson, Steven Ellis, Axel Schambach, Christopher Baum, Johan Richter, Jonas Larsson, David Bryder, Stefan Karlsson

Blood (2011) 118 (23): 6087–6096.

https://doi.org/10.1182/blood-2011-08-371963

Published: 2011

Includes: Supplemental data

Journal Articles

Mitochondrial Dysfunction As a Potential Source of Reactive Oxygen Species in Cellular Models of Shwachman-Diamond Syndrome

Adrianna Henson, Joseph B Moore, IV, PhD, Johnson M. Liu, MD, Steven Ellis, PhD

Blood (2011) 118 (21): 1343.

https://doi.org/10.1182/blood.V118.21.1343.1343

Published: 2011

Journal Articles

Impaired Ribosome Maturation In Human Cells Depleted of Shwachman-Diamond Syndrome Protein SBDS

Gulay Sezgin, MD, Abdallah Nihrane, PhD, Adrianna Henson, Max Wattenberg, Steven Ellis, PhD, Johnson M. Liu, MD

Blood (2010) 116 (21): 2242.

https://doi.org/10.1182/blood.V116.21.2242.2242

Published: 2010

Journal Articles

Diamond Blackfan Anemia Defects In Rps19-Mutant Embryonic Stem Cells: Rescue by Gene Replacement but Not Glucocorticoid Treatment

Sharon Singh, MD, Katelyn Melgar, Tracie A. Goldberg, MD, Abdallah Nihrane, PhD, Jeffrey Michael Lipton, MD, PhD, Steven Ellis, PhD, Johnson M. Liu, MD

Blood (2010) 116 (21): 2237.

https://doi.org/10.1182/blood.V116.21.2237.2237

Published: 2010

Journal Articles

5q- Myelodysplastic Syndrome, In One of 23 Children Lacking a Known Ribosomal Gene Mutation, Masquerading as Diamond Blackfan Anemia (DBA) and Responding to Lenalidomide

Adrianna Vlachos, MD, Jason Farrar, MD, Eva Atsidaftos, MS, Ellen Muir, RN, CNS, Thomas C. Markello, MD, PhD, Sharon Singh, MD, Johnson M. Liu, MD, Steven Ellis, PhD, Robert J. Arceci, MD, PhD, David M. Bodine, PhD, Jeffrey Michael Lipton, MD, PhD

Blood (2010) 116 (21): LBA-2.

https://doi.org/10.1182/blood.V116.21.LBA-2.LBA-2

Published: 2010

Journal Articles

Unique Primitive Erythropoiesis Defect In Rpl5-Deficient Murine Embryonic Stem Cell Model of Diamond Blackfan Anemia

Tracie A. Goldberg, MD, Sharon Singh, MD, Adrianna Henson, Abdallah Nihrane, PhD, Jeffrey Michael Lipton, MD, PhD, Steven Ellis, PhD, Johnson M. Liu, MD

Blood (2010) 116 (21): 877.

https://doi.org/10.1182/blood.V116.21.877.877

Published: 2010

Journal Articles

5q- Syndrome In a Child: Is This Acquired Diamond Blackfan Anemia (DBA)?

Adrianna Vlachos, MD, Jason Farrar, MD, Eva Atsidaftos, MS, Ellen Muir, MSN, CNS, Thomas C. Markello, MD, PhD, Sharon Singh, MD, Johnson M. Liu, MD, Steven Ellis, PhD, Robert J. Arceci, MD, PhD, David M. Bodine, PhD, Jeffrey Michael Lipton, MD, PhD

Blood (2010) 116 (21): 4430.

https://doi.org/10.1182/blood.V116.21.4430.4430

Published: 2010

Journal Articles

Specific Hematopoietic and Erythroid Differentiation Defects in Mouse Embryonic Stem (ES) Cells with Abortive Ribosome Assembly.

Tracie A. Goldberg, MD, Adrianna Henson, Sharon Singh, MD, Abdallah Nihrane, PhD, Jeffrey Michael Lipton, MD, PhD, Steven Ellis, PhD, Johnson M. Liu, MD

Blood (2009) 114 (22): 1088.

https://doi.org/10.1182/blood.V114.22.1088.1088

Published: 2009

Journal Articles

Embryoid Body Defect in Mouse Rps19-Haploinsufficient Embryonic Stem Cell Model of Diamond Blackfan Anemia

Sharon Singh, MD, Sehba Dsilva, MD, Jeffrey Michael Lipton, MD, PhD, Steven Ellis, PhD, Johnson M. Liu, MD

Blood (2008) 112 (11): 3093.

https://doi.org/10.1182/blood.V112.11.3093.3093

Published: 2008

Journal Articles

Combined Disruptions of the Ribosomal Protein s19 and Pim1 Kinase Genes Are Associated with Increased Myeloid/Erythroid Cellularity and Reduced Apoptosis

Anne-Sophie Fröjmark, Jitendra Badhai, Jens Schuster, Joakim Klar, Maria Thuvesson, Steven Ellis, PhD, Niklas Dahl

Blood (2008) 112 (11): 3097.

https://doi.org/10.1182/blood.V112.11.3097.3097

Published: 2008

Journal Articles

Depletion of the Shwachman-Diamond Syndrome Gene Product, SBDS, Leads to Growth Inhibition and Increased Expression of OPG and VEGFA.

Abdallah Nihrane, PhD, Gulay Sezgin, MD, Sehba Dsilva, MD, Steven Ellis, PhD, Johnson M. Liu, MD

Blood (2008) 112 (11): 2045.

https://doi.org/10.1182/blood.V112.11.2045.2045

Published: 2008

Journal Articles

Depletion of the Shwachman-Diamond Syndrome Protein in Hematopoietic Progenitor Cells Impairs Growth, Colony Formation, and Ribosome Function.

Gulay Sezgin, MD, Abdallah Nihrane, PhD, Steven Ellis, PhD, Johnson M. Liu, MD

Blood (2008) 112 (11): 2046.

https://doi.org/10.1182/blood.V112.11.2046.2046

Published: 2008

Journal Articles

A Large Ribosomal Subunit Protein Abnormality in Diamond-Blackfan Anemia (DBA).

Blood (2007) 110 (11): 422.

https://doi.org/10.1182/blood.V110.11.422.422

Published: 2007

NARROW

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

Whole Genome Sequencing Identifies Small Deletions in Ribosomal Genes Causing Diamond Blackfan Anemia

Whole Genome Sequencing to Detect Small Deletions in Ribosomal Protein Genes in Diamond Blackfan Anemia Patients

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

Mice with ribosomal protein S19 deficiency develop bone marrow failure and symptoms like patients with Diamond-Blackfan anemia

Mitochondrial Dysfunction As a Potential Source of Reactive Oxygen Species in Cellular Models of Shwachman-Diamond Syndrome

Impaired Ribosome Maturation In Human Cells Depleted of Shwachman-Diamond Syndrome Protein SBDS

Diamond Blackfan Anemia Defects In Rps19-Mutant Embryonic Stem Cells: Rescue by Gene Replacement but Not Glucocorticoid Treatment

5q- Myelodysplastic Syndrome, In One of 23 Children Lacking a Known Ribosomal Gene Mutation, Masquerading as Diamond Blackfan Anemia (DBA) and Responding to Lenalidomide

Unique Primitive Erythropoiesis Defect In Rpl5-Deficient Murine Embryonic Stem Cell Model of Diamond Blackfan Anemia

5q- Syndrome In a Child: Is This Acquired Diamond Blackfan Anemia (DBA)?

Specific Hematopoietic and Erythroid Differentiation Defects in Mouse Embryonic Stem (ES) Cells with Abortive Ribosome Assembly.

Embryoid Body Defect in Mouse Rps19-Haploinsufficient Embryonic Stem Cell Model of Diamond Blackfan Anemia

Combined Disruptions of the Ribosomal Protein s19 and Pim1 Kinase Genes Are Associated with Increased Myeloid/Erythroid Cellularity and Reduced Apoptosis

Depletion of the Shwachman-Diamond Syndrome Gene Product, SBDS, Leads to Growth Inhibition and Increased Expression of OPG and VEGFA.

Depletion of the Shwachman-Diamond Syndrome Protein in Hematopoietic Progenitor Cells Impairs Growth, Colony Formation, and Ribosome Function.

A Large Ribosomal Subunit Protein Abnormality in Diamond-Blackfan Anemia (DBA).

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American Society of Hematology

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American Society of Hematology

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