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Journal Articles

Leucine for the Treatment of Transfusion Dependence in Patients with Diamond Blackfan Anemia

Adrianna Vlachos, MD, Evangelia Atsidaftos, MA, MPH, Ellen Muir, RN, MSN, Zora R. Rogers, MD, Mohammad Lufti Lababidi, MD, Waseem Alhushki, MD, Jason E. Farrar, MD, Bertil Glader, MD, Barbara Gruner, MD, Helge Hartung, MD, Christine M. Knoll, MD, Grzegorz Nalepa, MDPhD, Anupama Narla, MD, Arun Ranjan Panigrahi, MD, Colin A. Sieff, MB, BCh, Kelly J. Walkovich, MD, Jeffrey M Lipton, MD PhD

Blood (2018) 132 (Supplement 1): 755.

https://doi.org/10.1182/blood-2018-99-113570

Published: 2018

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

Single Cell Transcriptional Profiling Reveals Activation of TNF-Alpha Signaling in Hematopoietic Stem and Progenitor Cells from Shwachman-Diamond Syndrome Patients

Cailin Joyce, PhD, Assieh Saadatpour, PhD, Lan Jiang, PhD, Melisa Ruiz-Gutierrez, MDPhD, Ozge Vargel Bolukbasi, PhD, Inga Hofmann, MD, Colin A. Sieff, MB.BCh, Chad Nusbaum, PhD, Akiko Shimamura, MD PhD, Guo-Cheng Yuan, PhD, Carl D. Novina, MDPhD

Blood (2016) 128 (22): 335.

https://doi.org/10.1182/blood.V128.22.335.335

Published: 2016

Journal Articles

A Novel Conditional Knockout of the Diamond Blackfan Anemia Gene Rpl11 Shows Failure of Erythropoiesis, a Marked Increase in BFU-E Progenitors By Phenotype That Proliferate Poorly in Culture, and Activation of p53 Target Genes

Cailin E Joyce, PhD, Meaghan McGuinness, BS, Rebekka K Schneider, MD, Mark D. Fleming, MD DPhil, Dean R Campagna, BS, Paul J Schmidt, PhD, Benjamin L Ebert, MD PhD, Carl D. Novina, MDPhD, Colin A. Sieff, MB.BCh

Blood (2015) 126 (23): 1205.

https://doi.org/10.1182/blood.V126.23.1205.1205

Published: 2015

Journal Articles

GATA2 Mutations In Pediatric Myelodysplastic Syndromes and Bone Marrow Failure

Inga Hofmann, MD, Daniel Kierstead, Jennie Krasker, Dean Campagna, Klaus Schmitz-Abe, PhD, Kyriacos Markianos, PhD, Michelle A Lee, MD, PhD, Colin A. Sieff, MD, Suneet Agarwal, MD, PHD, Jennifer J Clark, MD, Michael Jeng, MD, Mignon L. Loh, MD, Evan Shereck, MD, David A. Williams, MD, Mark D Fleming, D.Phil., M.D.

Blood (2013) 122 (21): 1520.

https://doi.org/10.1182/blood.V122.21.1520.1520

Published: 2013

Journal Articles

Array Comparative Genomic Hybridization of Ribosomal Protein Genes In Diamond-Blackfan Anemia Patients; Evidence for Three New DBA Genes, RPS8, RPS14 and RPL15 , with Large Deletion or Duplication

Hanna Gazda, Michael Landowski, Christopher Buros, Adrianna Vlachos, Colin A. Sieff, Peter E. Newburger, Edyta Niewiadomska, Michal Matysiak, Bertil Glader, Lori Dobson, Eva Atsidaftos, MS, Jeffrey Michael M. Lipton, MD, PhD, Alan Beggs

Blood (2010) 116 (21): 1007.

https://doi.org/10.1182/blood.V116.21.1007.1007

Published: 2010

Journal Articles

Ribosomal Protein Genes S10 and S26 Are Commonly Mutated in Diamond-Blackfan Anemia.

Hanna T. Gazda, Mee Rie Sheen, Leana Doherty, Adrianna Vlachos, Valerie Choesmel, Marie-Francoise O'Donohue, Hal E. Schneider, Catherine Clinton, Colin A. Sieff, Peter E. Newburger, Sarah E. Ball, Edyta Niewiadomska, Michal Matysiak, Bertil Glader, Eva Atsidaftos, Jeffrey M. Lipton, Pierre-Emmanuel Gleizes, Alan H. Beggs

Blood (2009) 114 (22): 175.

https://doi.org/10.1182/blood.V114.22.175.175

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

Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia

Blood (2008) 112 (5): 1582–1592.

https://doi.org/10.1182/blood-2008-02-140012

Published: 2008

Includes: Supplemental data

Journal Articles

Pathogenesis of the Erythroid Failure in Diamond Blackfan Anemia.

Colin A. Sieff, MBBCh, Harvey F. Lodish, PhD.

Blood (2007) 110 (11): 424.

https://doi.org/10.1182/blood.V110.11.424.424

Published: 2007

Journal Articles

Mutations of the Genes for Ribosomal Proteins L5 and L11 Are a Common Cause of Diamond-Blackfan Anemia.

Hanna T. Gazda, Mee Rie Sheen, Natasha Darras, Hal Shneider, Colin A. Sieff, Sarah E. Ball, Edyta Niewiadomska, Peter E. Newburger, Eva Atsidaftos, Adrianna Vlachos, Jeffrey M. Lipton, Alan H. Beggs

Blood (2007) 110 (11): 421.

https://doi.org/10.1182/blood.V110.11.421.421

Published: 2007

Journal Articles

Ribosomal Protein S24 Gene Is Mutated in Diamond-Blackfan Anemia.

Blood (2006) 108 (11): 181.

https://doi.org/10.1182/blood.V108.11.181.181

Published: 2006

Journal Articles

Defective Ribosomal Protein Gene Expression Alters Transcription, Translation and Oncogenic Pathways in Diamond-Blackfan Anemia.

Hanna T. Gazda, MD, Alvin T. Kho, PhD, Despina Sanoudou, PhD, Jan M. Zaucha, MD, Colin A. Sieff, MD, Alan H. Beggs, PhD

Blood (2005) 106 (11): 3546.

https://doi.org/10.1182/blood.V106.11.3546.3546

Published: 2005

Journal Articles

An RNA interference model of RPS19 deficiency in Diamond-Blackfan anemia recapitulates defective hematopoiesis and rescue by dexamethasone: identification of dexamethasone-responsive genes by microarray

Benjamin L. Ebert, Michele M. Lee, Jennifer L. Pretz, Aravind Subramanian, Raymond Mak, Todd R. Golub, Colin A. Sieff

Blood (2005) 105 (12): 4620–4626.

https://doi.org/10.1182/blood-2004-08-3313

Published: 2005

Includes: Supplemental data

Journal Articles

Gene Expression Changes in Bone Marrow Cells from Diamond-Blackfan Anemia Patients.

Hanna T. Gazda, M.D., Despina Sanoudou, Ph.D., Alvin T. Kho, Ph.D., Jan M. Zaucha, M.D., Colin A. Sieff, M.B.,B.Ch., Alan H. Beggs, Ph.D.

Blood (2004) 104 (11): 720.

https://doi.org/10.1182/blood.V104.11.720.720

Published: 2004

Journal Articles

Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease

Blood (2001) 97 (7): 2145–2150.

https://doi.org/10.1182/blood.V97.7.2145

Published: 2001

Journal Articles

One-Day Ex Vivo Culture Allows Effective Gene Transfer Into Human Nonobese Diabetic/Severe Combined Immune-Deficient Repopulating Cells Using High-Titer Vesicular Stomatitis Virus G Protein Pseudotyped Retrovirus

Vivienne I. Rebel, Mayumi Tanaka, Jeng-Shin Lee, Sheila Hartnett, Michael Pulsipher, David G. Nathan, Richard C. Mulligan, Colin A. Sieff

Blood (1999) 93 (7): 2217–2224.

https://doi.org/10.1182/blood.V93.7.2217

Published: 1999

Journal Articles

The β Chain of the Interleukin-3 Receptor Functionally Associates With the Erythropoietin Receptor

Paul T. Jubinsky, Oleg I. Krijanovski, David G. Nathan, Jan Tavernier, Colin A. Sieff

Blood (1997) 90 (5): 1867–1873.

https://doi.org/10.1182/blood.V90.5.1867

Published: 1997

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Leucine for the Treatment of Transfusion Dependence in Patients with Diamond Blackfan Anemia

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

Single Cell Transcriptional Profiling Reveals Activation of TNF-Alpha Signaling in Hematopoietic Stem and Progenitor Cells from Shwachman-Diamond Syndrome Patients

A Novel Conditional Knockout of the Diamond Blackfan Anemia Gene Rpl11 Shows Failure of Erythropoiesis, a Marked Increase in BFU-E Progenitors By Phenotype That Proliferate Poorly in Culture, and Activation of p53 Target Genes

GATA2 Mutations In Pediatric Myelodysplastic Syndromes and Bone Marrow Failure

Array Comparative Genomic Hybridization of Ribosomal Protein Genes In Diamond-Blackfan Anemia Patients; Evidence for Three New DBA Genes, RPS8, RPS14 and RPL15 , with Large Deletion or Duplication

Ribosomal Protein Genes S10 and S26 Are Commonly Mutated in Diamond-Blackfan Anemia.

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

Abnormalities of the large ribosomal subunit protein, Rpl35a, in Diamond-Blackfan anemia

Pathogenesis of the Erythroid Failure in Diamond Blackfan Anemia.

Mutations of the Genes for Ribosomal Proteins L5 and L11 Are a Common Cause of Diamond-Blackfan Anemia.

Ribosomal Protein S24 Gene Is Mutated in Diamond-Blackfan Anemia.

Defective Ribosomal Protein Gene Expression Alters Transcription, Translation and Oncogenic Pathways in Diamond-Blackfan Anemia.

An RNA interference model of RPS19 deficiency in Diamond-Blackfan anemia recapitulates defective hematopoiesis and rescue by dexamethasone: identification of dexamethasone-responsive genes by microarray

Gene Expression Changes in Bone Marrow Cells from Diamond-Blackfan Anemia Patients.

Evidence for linkage of familial Diamond-Blackfan anemia to chromosome 8p23.3-p22 and for non-19q non-8p disease

One-Day Ex Vivo Culture Allows Effective Gene Transfer Into Human Nonobese Diabetic/Severe Combined Immune-Deficient Repopulating Cells Using High-Titer Vesicular Stomatitis Virus G Protein Pseudotyped Retrovirus

The β Chain of the Interleukin-3 Receptor Functionally Associates With the Erythropoietin Receptor

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