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Citations to this article

Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia
Vijay G. Sankaran, … , Eric S. Lander, Hanna T. Gazda
Vijay G. Sankaran, … , Eric S. Lander, Hanna T. Gazda
Published June 18, 2012
Citation Information: J Clin Invest. 2012;122(7):2439-2443. https://doi.org/10.1172/JCI63597.
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Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

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Abstract

Diamond-Blackfan anemia (DBA) is a hypoplastic anemia characterized by impaired production of red blood cells, with approximately half of all cases attributed to ribosomal protein gene mutations. We performed exome sequencing on two siblings who had no known pathogenic mutations for DBA and identified a mutation in the gene encoding the hematopoietic transcription factor GATA1. This mutation, which occurred at a splice site of the GATA1 gene, impaired production of the full-length form of the protein. We further identified an additional patient carrying a distinct mutation at the same splice site of the GATA1 gene. These findings provide insight into the pathogenesis of DBA, showing that the reduction in erythropoiesis associated with the disease can arise from causes other than defects in ribosomal protein genes. These results also illustrate the multifactorial role of GATA1 in human hematopoiesis.

Authors

Vijay G. Sankaran, Roxanne Ghazvinian, Ron Do, Prathapan Thiru, Jo-Anne Vergilio, Alan H. Beggs, Colin A. Sieff, Stuart H. Orkin, David G. Nathan, Eric S. Lander, Hanna T. Gazda

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International Journal of Hematology 2018
De Novo Mutations Activating Germline TP53 in an Inherited Bone-Marrow-Failure Syndrome
T Toki, K Yoshida, RN Wang, S Nakamura, T Maekawa, K Goi, MC Katoh, S Mizuno, F Sugiyama, R Kanezaki, T Uechi, Y Nakajima, Y Sato, Y Okuno, A Sato-Otsubo, Y Shiozawa, K Kataoka, Y Shiraishi, M Sanada, K Chiba, H Tanaka, K Terui, T Sato, T Kamio, H Sakaguchi, S Ohga, M Kuramitsu, I Hamaguchi, A Ohara, H Kanno, S Miyano, S Kojima, A Ishiguro, K Sugita, N Kenmochi, S Takahashi, K Eto, S Ogawa, E Ito
The American Journal of Human Genetics 2018
Recurring mutations in RPL15 are linked to hydrops fetalis and treatment independence in Diamond-Blackfan anemia
MW Wlodarski, LD Costa, MF ODonohue, M Gastou, N Karboul, N Montel-Lehry, I Hainmann, D Danda, A Szvetnik, Victor, N Paolini, FM di Summa, H Tamary, AA Quider, A Aspesi, RH Houtkooper, T Leblanc, CM Niemeyer, PE Gleizes, AW MacInnes
Haematologica 2018
Developmental processes regulate craniofacial variation in disease and evolution
F Merkuri, JL Fish
Genesis (New York, N.Y. : 2000) 2018
How I manage children with Diamond-Blackfan anaemia
M Bartels, M Bierings
British Journal of Haematology 2018
The Genetic Landscape of Diamond-Blackfan Anemia
JC Ulirsch, JM Verboon, S Kazerounian, MH Guo, D Yuan, LS Ludwig, RE Handsaker, NJ Abdulhay, C Fiorini, G Genovese, ET Lim, A Cheng, BB Cummings, KR Chao, AH Beggs, CA Genetti, CA Sieff, PE Newburger, E Niewiadomska, M Matysiak, A Vlachos, JM Lipton, E Atsidaftos, B Glader, A Narla, PE Gleizes, MF ODonohue, N Montel-Lehry, DJ Amor, SA McCarroll, AH ODonnell-Luria, N Gupta, SB Gabriel, DG MacArthur, ES Lander, M Lek, LD Costa, DG Nathan, AA Korostelev, R Do, VG Sankaran, HT Gazda
The American Journal of Human Genetics 2018
Ribosome assembly coming into focus
S Klinge, JL Woolford
Nature Reviews Molecular Cell Biology 2018
Pre-Ribosomal RNA Processing in Human Cells: From Mechanisms to Congenital Diseases
M Aubert, MF ODonohue, S Lebaron, PE Gleizes
Biomolecules 2018
Single-cell analyses demonstrate that a heme–GATA1 feedback loop regulates red cell differentiation
RT Doty, X Yan, C Lausted, AD Munday, Z Yang, D Yi, N Jabbari, L Liu, SB Keel, Q Tian, JL Abkowitz
Blood 2018
Molecular convergence in ex vivo models of Diamond-Blackfan anemia
KA O'Brien, JE Farrar, A Vlachos, SM Anderson, CA Tsujiura, J Lichtenberg, L Blanc, E Atsidaftos, A Elkahloun, X An, SR Ellis, JM Lipton, DM Bodine
Blood 2017
GATA factor mutations in hematologic disease
JD Crispino, MS Horwitz
Blood 2017
GATA1 Activity Governed by Configurations of cis-Acting Elements
A Hasegawa, R Shimizu
Frontiers in Oncology 2017
From the Cradle to the Grave: The Role of Macrophages in Erythropoiesis and Erythrophagocytosis
TR Klei, SM Meinderts, TK van Berg, R Bruggen
Frontiers in immunology 2017
Triplications of human chromosome 21 orthologous regions in mice result in expansion of megakaryocyte-erythroid progenitors and reduction of granulocyte-macrophage progenitors
C Liu, T Yu, Z Xing, X Jiang, Y Li, A Pao, J Mu, PK Wallace, G Stoica, AV Bakin, YE Yu
Oncotarget 2017
Current Knowledge and Priorities for Future Research in Late Effects after Hematopoietic Cell Transplantation for Inherited Bone Marrow Failure Syndromes: Consensus Statement from the Second Pediatric Blood and Marrow Transplant Consortium International Conference on Late Effects after Pediatric Hematopoietic Cell Transplantation
AC Dietz, PA Mehta, A Vlachos, SA Savage, D Bresters, J Tolar, F Boulad, JH Dalle, C Bonfim, J la Fuente, CN Duncan, KS Baker, MA Pulsipher, JM Lipton, JE Wagner, BP Alter
Biology of Blood and Marrow Transplantation 2017
Characterization, regulation, and targeting of erythroid progenitors in normal and disordered human erythropoiesis:
BM Dulmovits, J Hom, A Narla, N Mohandas, L Blanc
Current Opinion in Hematology 2017
RNA splicing during terminal erythropoiesis:
JG Conboy
Current Opinion in Hematology 2017
Lentiviral Vectors with Cellular Promoters Correct Anemia and Lethal Bone Marrow Failure in a Mouse Model for Diamond-Blackfan Anemia
S Debnath, P Jaako, K Siva, M Rothe, J Chen, M Dahl, HB Gaspar, J Flygare, A Schambach, S Karlsson
Molecular Therapy 2017
Confounding in ex vivo models of Diamond-Blackfan anemia
JC Ulirsch, C Lareau, LS Ludwig, N Mohandas, DG Nathan, VG Sankaran
Blood 2017
The severe phenotype of Diamond-Blackfan anemia is modulated by heat shock protein 70
M Gastou, S Rio, M Dussiot, N Karboul, H Moniz, T Leblanc, M Sevin, P Gonin, J Larghéro, C Garrido, A Narla, N Mohandas, W Vainchenker, O Hermine, E Solary, LD Costa
Blood Advances 2017
How Ribosomes Translate Cancer
SO Sulima, IJ Hofman, KD Keersmaecker, JD Dinman
Cancer Discovery 2017
Developmentally-faithful and effective human erythropoiesis in immunodeficient and Kit mutant mice
C Fiorini, NJ Abdulhay, SK McFarland, M Munschauer, JC Ulirsch, R Chiarle, VG Sankaran
American Journal of Hematology 2017
Functional Selectivity in Cytokine Signaling Revealed Through a Pathogenic EPO Mutation
AR Kim, JC Ulirsch, S Wilmes, E Unal, I Moraga, M Karakukcu, D Yuan, S Kazerounian, NJ Abdulhay, DS King, N Gupta, SB Gabriel, ES Lander, T Patiroglu, A Ozcan, MA Ozdemir, KC Garcia, J Piehler, HT Gazda, DE Klein, VG Sankaran
Cell 2017
GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of congenital dyserythropoietic anemia type II
R Russo, I Andolfo, A Gambale, GD Rosa, F Manna, A Arillo, F Wandroo, MG Bisconte, A Iolascon
Haematologica 2017
Whole-exome sequencing identifies an α-globin cluster triplication resulting in increased clinical severity of β-thalassemia
O Steinberg-Shemer, JC Ulirsch, S Noy-Lotan, T Krasnov, D Attias, O Dgany, R Laor, VG Sankaran, H Tamary
Molecular Case Studies 2017
Perspective on Diamond–Blackfan anemia: lessons from a rare congenital bone marrow failure syndrome
KM Sakamoto, A Narla
Leukemia 2017
[The progress of molecular genetics in bone marrow failure]
C X Liu, F K Zhang
Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 2017
Whole exome sequencing in the differential diagnosis of Diamond-Blackfan anemia: Clinical and molecular study of three patients with novel RPL5 and mosaic RPS19 mutations
E Errichiello, A Vetro, T Mina, A Wischmeijer, E Berrino, M Carella, M Romagnoli, P Sacchini, T Venesio, M Zecca, O Zuffardi
Blood cells, molecules & diseases 2017
Genetic control of erythropoiesis.
Tumburu L, Thein SL
Current Opinion in Hematology 2017
Exome Sequencing in a Family Identifies RECQL5 Mutation Resulting in Early Myocardial Infarction:
X Xie, YY Zheng, D Adi, YN Yang, YT Ma, XM Li, ZY Fu, X Ma, F Liu, ZX Yu, Y Chen, Y Huang
Medicine 2016
Emerging cellular and gene therapies for congenital anemias: Emerging Cellular and Gene Therapies for Congenital
LS Ludwig, RK Khajuria, VG Sankaran
American Journal of Medical Genetics Part C Seminars in Medical Genetics 2016
Systematic Functional Dissection of Common Genetic Variation Affecting Red Blood Cell Traits
JC Ulirsch, SK Nandakumar, L Wang, FC Giani, X Zhang, P Rogov, A Melnikov, P McDonel, R Do, TS Mikkelsen, VG Sankaran
Cell 2016
Insight into GATA1 transcriptional activity through interrogation of cis elements disrupted in human erythroid disorders
A Wakabayashi, JC Ulirsch, LS Ludwig, C Fiorini, M Yasuda, A Choudhuri, P McDonel, LI Zon, VG Sankaran
Proceedings of the National Academy of Sciences 2016
Evolution of myeloid leukemia in children with Down syndrome
S Saida
International Journal of Hematology 2016
Advances in understanding erythropoiesis: evolving perspectives
SK Nandakumar, JC Ulirsch, VG Sankaran
British Journal of Haematology 2016
Clinical features, mutations and treatment of 104 patients of Diamond-Blackfan anemia in China: a single-center retrospective study
Y Wan, X Chen, W An, M Ruan, J Zhang, L Chang, R Zhang, S Zhu, Y Zhang, W Yang, Y Guo, W Yuan, Y Zou, Y Chen, X Zhu
International Journal of Hematology 2016
Long-term adaptation to hypoxia preserves hematopoietic stem cell function
J Chen, JG Kang, K Keyvanfar, NS Young, PM Hwang
Experimental Hematology 2016
Neonatal manifestations of inherited bone marrow failure syndromes
PP Khincha, SA Savage
Seminars in Fetal and Neonatal Medicine 2016
Whole-Exome Sequencing Identifies Loci Associated with Blood Cell Traits and Reveals a Role for Alternative GFI1B Splice Variants in Human Hematopoiesis
LM Polfus, RK Khajuria, UM Schick, N Pankratz, R Pazoki, JA Brody, MH Chen, PL Auer, JS Floyd, J Huang, L Lange, FJ van Rooij, RA Gibbs, G Metcalf, D Muzny, N Veeraraghavan, K Walter, L Chen, L Yanek, LC Becker, GM Peloso, A Wakabayashi, M Kals, A Metspalu, T Esko, K Fox, R Wallace, N Franceschini, N Matijevic, KM Rice, TM Bartz, LP Lyytikäinen, M Kähönen, T Lehtimäki, OT Raitakari, R Li-Gao, DO Mook-Kanamori, G Lettre, CM van Duijn, OH Franco, SS Rich, F Rivadeneira, A Hofman, AG Uitterlinden, JG Wilson, BM Psaty, N Soranzo, A Dehghan, E Boerwinkle, X Zhang, AD Johnson, CJ ODonnell, JM Johnsen, AP Reiner, SK Ganesh, VG Sankaran
The American Journal of Human Genetics 2016
Erythrocyte adenosine deaminase levels are elevated in Diamond Blackfan anemia but not in the 5q− syndrome: eADA Levels in Ribosomopathies
A Narla, NL Davis, C Lavasseur, C Wong, B Glader
American Journal of Hematology 2016
Role of ribosomal protein mutations in tumor development (Review)
K Goudarzi, M Lindstrï½m
International journal of oncology 2016
Diagnostic challenge of Diamond–Blackfan anemia in mothers and children by whole-exome sequencing
T Ichimura, K Yoshida, Y Okuno, T Yujiri, K Nagai, M Nishi, Y Shiraishi, H Ueno, T Toki, K Chiba, H Tanaka, H Muramatsu, T Hara, H Kanno, S Kojima, S Miyano, E Ito, S Ogawa, S Ohga
International Journal of Hematology 2016
Normal hematologic parameters and fetal hemoglobin silencing with heterozygous IKZF1 mutations
N Abdulhay, C Fiorini, A Kumanovics, AA Sun, J Hansen-Rejali, KV Voelkerding, SD Rosenzweig, HR Hill, VG Sankaran
Blood 2016
Clinical and Molecular Characterisation of Children with Pierre Robin Sequence and Additional Anomalies
JX Xu, N Kilpatrick, NL Baker, A Penington, PG Farlie, TY Tan
Molecular syndromology 2016
Embryonic stem cells as sources of donor-independent platelets
Matthew Canver, Daniel Bauer, Stuart H Orkin
Journal of Clinical Investigation 2015
Pluripotent stem cells reveal novel erythroid activities of the GATA1 N-terminus
Marta Byrska-Bishop, Daniel VanDorn, Amy E. Campbell, Marisol Betensky, Philip R. Arca, Yu Yao, Paul Gadue, Fernando F. Costa, Richard L. Nemiroff, Gerd A. Blobel, Deborah L. French, Ross C. Hardison, Mitchell J. Weiss, Stella T. Chou
Journal of Clinical Investigation 2015
X-Linked Macrocytic Dyserythropoietic Anemia in Females with an ALAS2 Mutation
Vijay Sankaran, Jacob Ulirsch, Vassili Tchaikovskii, Leif Ludwig, Aoi Wakabayashi, Senkottuvelan Kadirvel, Coleman Lindsley, Rafael Bejar, Jiahai Shi, Scott Lovitch, david bishop, David Steensma
Journal of Clinical Investigation 2015
GATA1 and PU.1 Bind to Ribosomal Protein Genes in Erythroid Cells: Implications for Ribosomopathies
EP Amanatiadou, GL Papadopoulos, J Strouboulis, IS Vizirianakis, G Simos
PloS one 2015
A Child With Dyserythropoietic Anemia and Megakaryocyte Dysplasia Due to a Novel 5′UTR GATA1s Splice Mutation: GATA1 5′UTR Mutation in Abnormal Hematopoiesis
J Zucker, C Temm, M Czader, G Nalepa
Pediatric Blood & Cancer 2015
Modeling Human Bone Marrow Failure Syndromes Using Pluripotent Stem Cells and Genome Engineering
M Jung, CE Dunbar, T Winkler
Molecular Therapy 2015
Society for Pediatric Research 2015 Young Investigator Award: genetics of human hematopoiesis—what patients can teach us about blood cell production
A Wakabayashi, VG Sankaran
Pediatric Research 2015
Anemia: progress in molecular mechanisms and therapies
VG Sankaran, MJ Weiss
Nature Medicine 2015
Global transcriptome and chromatin occupancy analysis reveal the short isoform of GATA1 is deficient for erythroid specification and gene expression
TM Chlon, M McNulty, B Goldenson, A Rosinski, JD Crispino
Haematologica 2015
Current Topics in Developmental Biology
A Achilleos, PA Trainor
Current topics in developmental biology 2015
Genetic predisposition syndromes: When should they be considered in the work-up of MDS?
DV Babushok, M Bessler
Best Practice & Research Clinical Haematology 2015
The biology of pediatric acute megakaryoblastic leukemia
TA Gruber, JR Downing
Blood 2015
Bmi1 Promotes Erythroid Development Through Regulating Ribosome Biogenesis: Bmi1 Regulates Ribosome Biogenesis
R Gao, S Chen, M Kobayashi, H Yu, Y Zhang, Y Wan, SK Young, A Soltis, M Yu, S Vemula, E Fraenkel, A Cantor, Y Antipin, Y Xu, MC Yoder, RC Wek, SR Ellis, R Kapur, X Zhu, Y Liu
Stem Cells 2015
Clinical and genomic heterogeneity of Diamond Blackfan anemia in the Russian Federation: Diamond Blackfan Anemia in the Russian Federation
NS Smetanina, IV Mersiyanova, MA Kurnikova, GS Ovsyannikova, LA Hachatryan, VO Bobrynina, MA Maschan, GA Novichkova, JM Lipton, AA Maschan
Pediatric Blood & Cancer 2015
Dysregulation of the Transforming Growth Factor β Pathway in Induced Pluripotent Stem Cells Generated from Patients with Diamond Blackfan Anemia
J Ge, M Apicella, JA Mills, L Garçon, DL French, MJ Weiss, M Bessler, PJ Mason, J Freeman
PloS one 2015
Ribosomopathies: how a common root can cause a tree of pathologies
N Danilova, HT Gazda
Disease models & mechanisms 2015
Immunophenotypic Profiling of Erythroid Progenitor-Derived Extracellular Vesicles in Diamond-Blackfan Anaemia: A New Diagnostic Strategy
S Macrì, E Pavesi, R Crescitelli, A Aspesi, C Vizziello, C Botto, P Corti, P Quarello, P Notari, U Ramenghi, SR Ellis, I Dianzani, F Bertolini
PloS one 2015
GATA family transcriptional factors: emerging suspects in hematologic disorders
J Gao, YH Chen, LA Peterson
Experimental Hematology and Oncology 2015
Glucocorticoids improve erythroid progenitor maintenance and dampen Trp53 response in a mouse model of Diamond-Blackfan anaemia
SE Sjögren, K Siva, S Soneji, AJ George, M Winkler, P Jaako, M Wlodarski, S Karlsson, RD Hannan, J Flygare
British Journal of Haematology 2015
Erythropoietin and IGF-1 signaling synchronize cell proliferation and maturation during erythropoiesis
Zahra Kadri, Carine Lefevre, Olivier Goupille, Tipparat Penglong, Marine Granger-Locatelli, Suthat Fucharoen, Leila Maouche-Chretien, Philippe Leboulch, Stany Chretien
Genes & development 2015
E Proteins and ID Proteins: Helix-Loop-Helix Partners in Development and Disease
LH Wang, NE Baker
Developmental Cell 2015
In-Depth, Label-Free Analysis of the Erythrocyte Cytoplasmic Proteome in Diamond Blackfan Anemia Identifies a Unique Inflammatory Signature
EN Pesciotta, HS Lam, A Kossenkov, J Ge, LC Showe, PJ Mason, M Bessler, DW Speicher, T Rouault
PloS one 2015
Erythro-megakaryocytic transcription factors associated with hereditary anemia
JD Crispino, MJ Weiss
Blood 2014
Altered Chromatin Occupancy of Master Regulators Underlies Evolutionary Divergence in the Transcriptional Landscape of Erythroid Differentiation
JC Ulirsch, JN Lacy, X An, N Mohandas, TS Mikkelsen, VG Sankaran, M Snyder
PLoS genetics 2014
Marrow failure: a window into ribosome biology
D Ruggero, A Shimamura
Blood 2014
Ribosomopathies: Mechanisms of Disease
Lu, N Hani, J Ke, X Zhou, W Liao, S Zeng
Clinical Medicine Insights: Blood Disorders 2014
Next generation sequencing in cardiomyopathy: towards personalized genomics and medicine
A Biswas, VR Rao, S Seth, SK Maulik
Molecular Biology Reports 2014
Loss of GATA-1 full length as a cause of Diamond-Blackfan anemia phenotype: GATA-1 Mutations in DBA
S Parrella, A Aspesi, P Quarello, E Garelli, E Pavesi, A Carando, M Nardi, SR Ellis, U Ramenghi, I Dianzani
Pediatric Blood & Cancer 2014
Transcriptional divergence and conservation of human and mouse erythropoiesis
N Pishesha, P Thiru, J Shi, JC Eng, VG Sankaran, HF Lodish
Proceedings of the National Academy of Sciences 2014
Diamond Blackfan anemia: A Cheshire cat of hematology: Diamond Blackfan Anemia: A Cheshire Cat of Hematology
JE Farrar
Pediatric Blood & Cancer 2014
Altered translation of GATA1 in Diamond-Blackfan anemia
LS Ludwig, HT Gazda, JC Eng, SW Eichhorn, P Thiru, R Ghazvinian, TI George, JR Gotlib, AH Beggs, CA Sieff, HF Lodish, ES Lander, VG Sankaran
Nature Medicine 2014
p53-Independent cell cycle and erythroid differentiation defects in murine embryonic stem cells haploinsufficient for Diamond Blackfan anemia-proteins: RPS19 versus RPL5
SA Singh, TA Goldberg, AL Henson, S Husain-Krautter, A Nihrane, L Blanc, SR Ellis, JM Lipton, JM Liu
PloS one 2014
Whole-exome sequencing and functional studies identify RPS29 as a novel gene mutated in multicase Diamond-Blackfan anemia families
L Mirabello, ER Macari, L Jessop, SR Ellis, T Myers, N Giri, AM Taylor, KE McGrath, JM Humphries, BJ Ballew, M Yeager, JF Boland, J He, BD Hicks, L Burdett, BP Alter, L Zon, SA Savage
Blood 2014
Pearson marrow pancreas syndrome in patients suspected to have Diamond-Blackfan anemia
KE Gagne, R Ghazvinian, D Yuan, RL Zon, K Storm, M Mazur-Popinska, L Andolina, H Bubala, S Golebiowska, MA Higman, K Kalwak, P Kurre, M Matysiak, E Niewiadomska, S Pels, MJ Petruzzi, A Pobudejska-Pieniazek, T Szczepanski, MD Fleming, HT Gazda, S Agarwal
Blood 2014
Down syndrome-associated haematopoiesis abnormalities created by chromosome transfer and genome editing technologies
Y Kazuki, Y Yakura, S Abe, M Osaki, N Kajitani, K Kazuki, S Takehara, K Honma, H Suemori, S Yamazaki, T Sakuma, T Toki, R Shimizu, H Nakauchi, T Yamamoto, M Oshimura
Scientific Reports 2014
Experimental Assessment of Splicing Variants Using Expression Minigenes and Comparison with In Silico Predictions
N Sharma, PR Sosnay, AS Ramalho, C Douville, A Franca, LB Gottschalk, J Park, M Lee, B Vecchio-Pagan, KS Raraigh, MD Amaral, R Karchin, GR Cutting
Human Mutation 2014
Defects of protein production in erythroid cells revealed in a zebrafish Diamond–Blackfan anemia model for mutation in RPS19
Y Zhang, J Ear, Z Yang, K Morimoto, B Zhang, S Lin
Cell Death and Disease 2014
Current insights into inherited bone marrow failure syndromes
NG Chung, M Kim
Korean Journal of Pediatrics 2014
Exploiting pre-rRNA processing in Diamond Blackfan anemia gene discovery and diagnosis: Pre-rRNA Processing in Diamond Blackfan Anemia
JE Farrar, P Quarello, R Fisher, KA O'Brien, A Aspesi, S Parrella, AL Henson, NE Seidel, E Atsidaftos, S Prakash, S Bari, E Garelli, RJ Arceci, I Dianzani, U Ramenghi, A Vlachos, JM Lipton, DM Bodine, SR Ellis
American Journal of Hematology 2014
TNF-mediated inflammation represses GATA1 and activates p38 MAP kinase in RPS19-deficient hematopoietic progenitors
E Bibikova, MY Youn, N Danilova, Y Ono-Uruga, Y Konto-Ghiorghi, R Ochoa, A Narla, B Glader, S Lin, KM Sakamoto
Blood 2014
Reduced translation of GATA1 in Diamond-Blackfan anemia
J Boultwood, A Pellagatti
Nature Medicine 2014
Developmental Differences in Interferon Signaling Affect GATA1s Induced Megakaryocyte Hyperproliferation
Andrew Woo, Karen Wieland, Hui Huang, Thomas Akie, Taylor Piers, Jonghwan Kim, Alan Cantor
Journal of Clinical Investigation 2013
Diminutive somatic deletions in the 5q region lead to a phenotype atypical of classical 5q- syndrome
A Vlachos, JE Farrar, E Atsidaftos, E Muir, A Narla, TC Markello, SA Singh, M Landowski, HT Gazda, L Blanc, JM Liu, SR Ellis, RJ Arceci, BL Ebert, DM Bodine, JM Lipton
Blood 2013
Perturbation of fetal hematopoiesis in a mouse model of Down syndrome's transient myeloproliferative disorder
Y Birger, L Goldberg, TM Chlon, B Goldenson, I Muler, G Schiby, J Jacob-Hirsch, G Rechavi, JD Crispino, S Izraeli
Blood 2013
Analysis of disease-causing GATA1 mutations in murine gene complementation systems
AE Campbell, L Wilkinson-White, JP Mackay, JM Matthews, GA Blobel
Blood 2013
Genome-wide association studies of hematologic phenotypes: a window into human hematopoiesis
VG Sankaran, SH Orkin
Current Opinion in Genetics & Development 2013
The Inherited Bone Marrow Failure Syndromes
SD Chirnomas, GM Kupfer
Pediatric Clinics of North America 2013
Genetic predispositions to childhood leukemia
E Stieglitz, ML Loh
Therapeutic Advances in Hematology 2013
Rare-disease genetics in the era of next-generation sequencing: discovery to translation
KM Boycott, MR Vanstone, DE Bulman, AE MacKenzie
Nature Reviews Genetics 2013
Applications of high-throughput DNA sequencing to benign hematology
VG Sankaran, PG Gallagher
Blood 2013
Clinical utility gene card for: Diamond – Blackfan Anemia – update 2013
A Vlachos, N Dahl, I Dianzani, JM Lipton
European Journal of Human Genetics 2013
Novel deletion of RPL15 identified by array-comparative genomic hybridization in Diamond–Blackfan anemia
M Landowski, MF O’Donohue, C Buros, R Ghazvinian, N Montel-Lehry, A Vlachos, CA Sieff, PE Newburger, E Niewiadomska, M Matysiak, B Glader, E Atsidaftos, JM Lipton, AH Beggs, PE Gleizes, HT Gazda
Human Genetics 2013
X-linked sideroblastic anemia due to ALAS2 intron 1 enhancer element GATA-binding site mutations: XLSA Due to ALAS2 GATA Binding Site Mutations
DR Campagna, CI de Bie, K Schmitz-Abe, M Sweeney, AK Sendamarai, PJ Schmidt, MM Heeney, HG Yntema, C Kannengiesser, B Grandchamp, CM Niemeyer, NV Knoers, S Swart, G Marron, R Wijk, RA Raymakers, A May, K Markianos, SS Bottomley, DW Swinkels, MD Fleming
American Journal of Hematology 2013
Genomic Characterization of the Inherited Bone Marrow Failure Syndromes
PP Khincha, SA Savage
Seminars in Hematology 2013
VarRanker: rapid prioritization of sequence variations associated with human disease
BD O'Fallon, W Wooderchak-Donahue, P Bayrak-Toydemir, D Crockett
BMC bioinformatics 2013
What’s in a Name?
Mitchell J. Weiss, Philip Mason, Monica Bessler
Journal of Clinical Investigation 2012
Inherited bone marrow failure syndromes in 2012
H Sakaguchi, K Nakanishi, S Kojima
International Journal of Hematology 2012
Erythrocyte adenosine deaminase: diagnostic value for Diamond-Blackfan anaemia
JH Fargo, CP Kratz, N Giri, SA Savage, C Wong, K Backer, BP Alter, B Glader
British Journal of Haematology 2012
p53 -Dependent and -Independent Nucleolar Stress Responses
KH Olausson, M Nistér, M Lindström
Cells 2012
Clinical aspects and pathogenesis of congenital dyserythropoietic anemias: from morphology to molecular approach
A Iolascon, MR Esposito, R Russo
2012
Pulmonary surfactant: an immunological perspective
ZC Chroneos, Z Sever-Chroneos, VL Shepherd
Cellular physiology and biochemistry : international journal of experimental cellular physiology, biochemistry, and pharmacology 2009
Down syndrome and leukemia: insights into leukemogenesis and translational targets
Marion K. Mateos, Draga Barbaric, Sally-Anne Byatt, Rosemary Sutton, Glenn M. Marshall
Translational Pediatrics
Genetics and Genomics Approaches for Diagnosis and Research Into Hereditary Anemias
R Russo, R Marra, BE Rosato, A Iolascon, I Andolfo
Frontiers in physiology 2020

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