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Journal Articles

Mutation of Murine Rpl5 reveals a New Model for Diamond Blackfan Anemia Characterized By Defective Erythropoiesis

Philippe Lemay, PhD, Morgan A Jones, MD PhD BS, MS, Fatma Mohamed, Marie-Claude Guyot, Alexander Ludlow, Qing Li, MD, James Douglas Engel, PhD, Renny Franceschi, PhD, Thomas L. Rothstein, MD PhD, Vesa Kaartinen, PhD, Zoha Kibar, PhD, Sharon A Singh, MD

Blood (2019) 134 (Supplement_1): 2495.

https://doi.org/10.1182/blood-2019-131526

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

Inherited Disorders of the Ras-MAPK Pathway

Christian P. Kratz, MD, Martin Zenker, MD

Blood (2018) 132 (Supplement 1): SCI-41.

https://doi.org/10.1182/blood-2018-99-109379

Published: 2018

Journal Articles

A Clinical, Genomic and Proteomic Approach for the Characterization of Fanconi Anemia in Adolescent and Young Adult (AYA) Patients : A Single Center Study of 55 Patients from a National Bone Marrow Failure Referral Center

Blood (2018) 132 (Supplement 1): 2594.

https://doi.org/10.1182/blood-2018-99-114639

Published: 2018

Journal Articles

Calmodulin Inhibition Rescues DBA Models with Ribosomal Protein Deficiency through Reduction of RSK Signaling

Elizabeth R Macari, PhD, Alison M Taylor, PhD, David Raiser, PhD, Kavitha Siva, PhD, Katherine McGrath, Jessica M Humphries, Johan Flygare, MDPhD, Benjamin L. Ebert, MDPhD, Leonard I. Zon, MD

Blood (2016) 128 (22): 332.

https://doi.org/10.1182/blood.V128.22.332.332

Published: 2016

Journal Articles

Calmodulin Inhibition Rescues the Effects of Ribosomal Protein Deficiency in in Vitro and In Vivo Diamond Blackfan Anemia Models

Elizabeth R Macari, PhD, Alison Taylor, PhD, David Raiser, PhD, Kavitha Siva, PhD, Katherine McGrath, Jessica M Humphries, Johan Flygare, MD PhD, Benjamin L Ebert, MD PhD, Leonard I. Zon, MD

Blood (2015) 126 (23): 672.

https://doi.org/10.1182/blood.V126.23.672.672

Published: 2015

Journal Articles

Familial Myeloid Neoplasms: Clinical Spectrum and Associated Abnormalities

Samith T. Kochuparambil, MBBS, Amie E Jackson, MD, Naseema Gangat, MD, Mark R. Litzow, MD, Shakila Khan, MD, Vilmarie Rodriguez, MD, William J. Hogan, MD, David Dingli, M.D., Ph.D., Mrinal M Patnaik, MBBS

Blood (2013) 122 (21): 2794.

https://doi.org/10.1182/blood.V122.21.2794.2794

Published: 2013

Journal Articles

Conditional Deletion of Asxl1 Results in Myelodysplasia

Omar Abdel-Wahab, M.D., Jie Gao, PhD, Mazhar Adli, PhD, Young Rock Chung, MSc, Richard Koche, PhD, Alan H. Shih, MD, PhD, Suveg Pandey, BSc, Lindsay M. La-Fave, PhD, Delphine Ndiaye-Lobry, Yu Sup Shin, BSc, Parva K. Bhatt, BSc, Jay P. Patel, Xinyang Zhao, PhD, Christopher Y. Park, MD, PhD, Jacob D. Jaffe, PhD, Bradley E. Bernstein, MD, PhD, Iannis Aifantis, PhD, Ross L. Levine

Blood (2012) 120 (21): 308.

https://doi.org/10.1182/blood.V120.21.308.308

Published: 2012

Journal Articles

Calmodulin Inhibition Rescues the Effects of Ribosomal Protein Deficiency by Modulating p53 Activity in Models of Diamond Blackfan Anemia

Alison M. Taylor, PhD, David M. Raiser, Jessica M. Humphries, Benjamin L. Ebert, MD, PhD, Leonard I. Zon, MD

Blood (2012) 120 (21): 512.

https://doi.org/10.1182/blood.V120.21.512.512

Published: 2012

Journal Articles

p53 Dependent and Dose Dependent Effects of Rps29 Mutation In the Zebrafish Embryo.

Alison M. Taylor, Jessica M. Humphries, Richard M. White, MD, PhD, Ryan D. Murphey, PhD, Caroline E. Burns, PhD, Leonard I. Zon, MD

Blood (2010) 116 (21): 1170.

https://doi.org/10.1182/blood.V116.21.1170.1170

Published: 2010

Journal Articles

Ribosome Dysfunction and Ineffective Hematopoiesis.

Benjamin L. Ebert, MD, DPhil

Blood (2009) 114 (22): SCI-11.

https://doi.org/10.1182/blood.V114.22.SCI-11.SCI-11

Published: 2009

Journal Articles

Identification of New Rare Sequence Changes in RP Genes in Diamond-Blackfan Anemia and Association of the RPL5 and RPL11 Mutations with Craniofacial and Thumb Malformations

Blood (2008) 112 (11): 39.

https://doi.org/10.1182/blood.V112.11.39.39

Published: 2008

Journal Articles

The Role of Gja1 Gap Junctions in the Bone Marrow Niche.

Nicole M. Anderson, BSc, Ralph Zirngibi, PhD, Frieda Chen, PhD, Celeste Owen, BSc, Lia Zitano, BSc, Esther Lau, Jane Aubin, PhD, William Stanford, PhD

Blood (2006) 108 (11): 1392.

https://doi.org/10.1182/blood.V108.11.1392.1392

Published: 2006

Journal Articles

A Heme Export Protein Is Required for Red Cell Differentiation and May Facilitate Iron Homeostasis.

Sioban B. Keel, MD, Raymond T. Doty, Ph.D., Zhantao Yang, M.D., James Palis, M.D., Janis L. Abkowitz, M.D.

Blood (2006) 108 (11): 1540.

https://doi.org/10.1182/blood.V108.11.1540.1540

Published: 2006

Journal Articles

Creation of a Ribosomal Protein Sa/ LAMR1 Heterozygous Mouse.

Steven R. Ellis, PhD, Paula M. Logsdon, BS, Junying Han, PhD

Blood (2005) 106 (11): 3551.

https://doi.org/10.1182/blood.V106.11.3551.3551

Published: 2005

Journal Articles

Complex Regulation of the Homeobox Transcription Factor TGIF : Differential Expression of Multiple 5′ Isoforms.

Rizwan Hamid, MD, PhD, Johnequia Patterson, MS, Danko Martincic, MD, Stephen J. Brandt, MD

Blood (2005) 106 (11): 4254.

https://doi.org/10.1182/blood.V106.11.4254.4254

Published: 2005

Journal Articles

Myeloproliferative Disease in a Mouse Model of Down Syndrome.

Gina Mundschau, BA, Sarah Jilani, BA, Hui Liu, MA, Elizabeth Davis, BA, Michelle Le Beau, PhD, John Crispino, PhD

Blood (2005) 106 (11): 4946.

https://doi.org/10.1182/blood.V106.11.4946.4946

Published: 2005

NARROW

Mutation of Murine Rpl5 reveals a New Model for Diamond Blackfan Anemia Characterized By Defective Erythropoiesis

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

Inherited Disorders of the Ras-MAPK Pathway

A Clinical, Genomic and Proteomic Approach for the Characterization of Fanconi Anemia in Adolescent and Young Adult (AYA) Patients : A Single Center Study of 55 Patients from a National Bone Marrow Failure Referral Center

Calmodulin Inhibition Rescues DBA Models with Ribosomal Protein Deficiency through Reduction of RSK Signaling

Calmodulin Inhibition Rescues the Effects of Ribosomal Protein Deficiency in in Vitro and In Vivo Diamond Blackfan Anemia Models

Familial Myeloid Neoplasms: Clinical Spectrum and Associated Abnormalities

Conditional Deletion of Asxl1 Results in Myelodysplasia

Calmodulin Inhibition Rescues the Effects of Ribosomal Protein Deficiency by Modulating p53 Activity in Models of Diamond Blackfan Anemia

p53 Dependent and Dose Dependent Effects of Rps29 Mutation In the Zebrafish Embryo.

Ribosome Dysfunction and Ineffective Hematopoiesis.

Identification of New Rare Sequence Changes in RP Genes in Diamond-Blackfan Anemia and Association of the RPL5 and RPL11 Mutations with Craniofacial and Thumb Malformations

The Role of Gja1 Gap Junctions in the Bone Marrow Niche.

A Heme Export Protein Is Required for Red Cell Differentiation and May Facilitate Iron Homeostasis.

Creation of a Ribosomal Protein Sa/ LAMR1 Heterozygous Mouse.

Complex Regulation of the Homeobox Transcription Factor TGIF : Differential Expression of Multiple 5′ Isoforms.

Myeloproliferative Disease in a Mouse Model of Down Syndrome.

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American Society of Hematology

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American Society of Hematology

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