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.
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
Title and authors | Publication | Year |
---|---|---|
Understanding erythroid physiology and pathology in humanized mice: A closer look
Lu L, Liu C, Chen L, Zhang X, Su Y, Chou Z, Liang Y, Song Y |
British Journal of Haematology | 2025 |
Lentiviral-mediated gene therapy for Diamond-Blackfan anemia: one step closer to the clinic
Yari Giménez, Manuel Palacios-Pérez, Christiane Zorbas, Rebeca Sánchez-Domínguez, Jorge Peral, Alexander Puzik, Laura Ugalde, Omaira Alberquilla, Mariela Villanueva, Paula Río, Eva Galvez, Lydie Da Costa, Marion Strullu, Albert Catala, Anna Ruiz, Jose Segovia, Julian Sevilla, Brigitte Strahm, Charlotte Niemeyer, Cristina Beléndez, Thierry Leblanc, Denis L. J. Lafontaine, Juan Bueren, Susana Navarro |
JCI Insight | 2024 |
An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants
Florence Fellmann, Carol J. Saunders, Marie-Françoise O'Donohue, David W. Reid, Kelsey A. McFadden, Nathalie Montel-Lehry, Cong Yu, Mingyan Fang, Jianguo Zhang, Beryl Royer-Bertrand, Pietro Farinelli, Narjesse Karboul, Jason Willer, Lorraine Fievet, Zahurul Alam Bhuiyan, Alissa L.W. Kleinhenz, Joy Fulbright, Carlo Rivolta, Raffaele Renella, Nicholas Katsanis, Jacques Beckmann, Christopher Nicchitta, Lydie Costa, Erica Davis, Pierre-Emmanuel Gleizes |
JCI Insight | 2024 |
The role of GATA family transcriptional factors in haematological malignancies: A review.
Abunimye DA, Okafor IM, Okorowo H, Obeagu EI |
Medicine | 2024 |
Alcohol exposure suppresses ribosome biogenesis and causes nucleolar stress in cranial neural crest cells
Flentke GR, Wilkie TE, Baulch J, Huang Y, Smith SM |
PloS one | 2024 |
Treatment of Refractory/Relapsed Diamond Blackfan Anemia with Eltrombopag
Duncan BB, Lotter J, Superata J, Barranta ME, Machado T, Darden I, Venugopal S, Wu C, Abkowitz JL, Dunbar CE, Young D |
British Journal of Haematology | 2024 |
GATA1 in Normal and Pathologic Megakaryopoiesis and Platelet Development.
Takasaki K, Chou ST |
Advances in experimental medicine and biology | 2024 |
Enhancement of PRMT6 binding to a novel germline GATA1 mutation associated with congenital anemia
Lu Y, Zhu Q, Wang Y, Luo M, Huang J, Liang Q, Huang L, Ouyang J, Li C, Tang N, Li Y, Kang T, Song Y, Xu X, Ye L, Zheng G, Chen C, Zhu C |
Haematologica | 2024 |
Endogenous Small Molecule Effectors in GATA Transcription Factor Mechanisms Governing Biological and Pathological Processes
Liao R, Bresnick EH |
Experimental hematology | 2024 |
Regulated GATA1 expression as a universal gene therapy for Diamond-Blackfan anemia
Voit RA, Liao X, Caulier A, Antoszewski M, Cohen B, Armant M, Lu HY, Fleming TJ, Kamal E, Wahlster L, Roche AM, Everett JK, Petrichenko A, Huang MM, Clarke W, Myers KC, Forester C, Perez-Atayde A, Bushman FD, Pellin D, Shimamura A, Williams DA, Sankaran VG |
Cell stem cell | 2024 |
The Ghost of Parvovirus Past: Idiopathic Pure Red Cell Aplasia Responding to IVIG Following Resolved Perinatal Parvovirus B19 Infection
Gray N, Sims K, Lewis S, Lei S, Bhatt N, Gheorghe G, Takemoto C, Wlodarski MW |
Pediatric blood & cancer | 2024 |
A novel RPS19-edited model for Diamond-Blackfan anemia reveals TP53-dependent impairment of hematopoietic stem cell activity
Senthil V Bhoopalan, Jonathan S Yen, Thiyagaraj Mayuranathan, Kalin Mayberry, Yu Yao, Maria Angeles Lillo Osuna, Yoonjeong Jang, Lionel Blanc, Marcin Wlodarski, Mitchell Weiss |
JCI Insight | 2023 |
Single-cell multi-omics and lineage tracing to dissect cell fate decision-making
Haghverdi L, Ludwig LS |
Stem Cell Reports | 2023 |
De novo intronic GATA1 mutation leads to diamond-blackfan anemia like disease
Liu S, Pei K, Chen L, Wu J, Chen Q, Zhang J, Zhang H, Wang C |
Frontiers in Genetics | 2023 |
In Vitro Human Haematopoietic Stem Cell Expansion and Differentiation
Bozhilov YK, Hsu I, Brown EJ, Wilkinson AC |
Cells | 2023 |
Animal models of Diamond-Blackfan anemia: updates and challenges.
Liu YL, Shibuya A, Glader B, Wilkes MC, Barna M, Sakamoto KM |
Haematologica | 2023 |
Massively parallel base editing to map variant effects in human hematopoiesis.
Martin-Rufino JD, Castano N, Pang M, Grody EI, Joubran S, Caulier A, Wahlster L, Li T, Qiu X, Riera-Escandell AM, Newby GA, Al'Khafaji A, Chaudhary S, Black S, Weng C, Munson G, Liu DR, Wlodarski MW, Sims K, Oakley JH, Fasano RM, Xavier RJ, Lander ES, Klein DE, Sankaran VG |
Cell | 2023 |
Synergistic roles of DYRK1A and GATA1 in trisomy 21 megakaryopoiesis
Ying Ting Sit, Kaoru Takasaki, Hyun An, Yan Xiao, Christian Hurtz, Peter Gearhart, Zhe Zhang, Paul Gadue, Deborah French, Stella Chou |
JCI Insight | 2023 |
Generation of Red Blood Cells from Human Pluripotent Stem Cells—An Update
Lee SJ, Jung C, Oh JE, Kim S, Lee S, Lee JY, Yoon YS |
Cells | 2023 |
Transcription factor genetics and biology in predisposition to bone marrow failure and hematological malignancy
Zerella JR, Homan CC, Arts P, Brown AL, Scott HS, Hahn CN |
Frontiers in Oncology | 2023 |
Cytopenia: a report of haplo-cord transplantation in twin brothers caused by a novel germline GATA1 mutation and family survey.
Sun XH, Liu Q, Wu SN, Xu WH, Chen K, Shao JB, Jiang H |
Annals of Hematology | 2023 |
Down syndrome and leukemia: from basic mechanisms to clinical advances
Baruchel A, Bourquin JP, Crispino J, Cuartero S, Hasle H, Hitzler J, Klusmann JH, Izraeli S, Lane AA, Malinge S, Rabin KR, Roberts I, Ryeom S, Tasian SK, Wagenblast E |
Haematologica | 2023 |
A De Novo Frameshift Mutation in RPL5 with Classical Phenotype Abnormalities and Worsening Anemia Diagnosed in a Young Adult—A Case Report and Review of the Literature
Dorenkamp M, Porret N, Diepold M, Rovó A |
Medicina | 2023 |
The Diverse Genomic Landscape of Diamond–Blackfan Anemia: Two Novel Variants and a Mini-Review
Pelagiadis I, Kyriakidis I, Katzilakis N, Kosmeri C, Veltra D, Sofocleous C, Glentis S, Kattamis A, Makis A, Stiakaki E |
Children | 2023 |
Perspectives of current understanding and therapeutics of Diamond-Blackan anemia.
Liu Y, Karlsson S |
Leukemia | 2023 |
A Congenital Anemia Reveals Distinct Targeting Mechanisms for Master Transcription Factor GATA1
L Ludwig, C Lareau, E Bao, N Liu, T Utsugisawa, A Tseng, S Myers, J Verboon, J Ulirsch, W Luo, C Muus, C Fiorini, M Olive, C Vockley, M Munschauer, A Hunter, H Ogura, T Yamamoto, H Inada, S Nakagawa, S Ozono, V Subramanian, R Chiarle, B Glader, S Carr, M Aryee, A Kundaje, S Orkin, A Regev, T McCavit, H Kanno, V Sankaran |
Blood | 2022 |
Decoding the pathogenesis of Diamond–Blackfan anemia using single-cell RNA-seq
B Wang, C Wang, Y Wan, J Gao, Y Ma, Y Zhang, J Tong, Y Zhang, J Liu, L Chang, C Xu, B Shen, Y Chen, E Jiang, R Kurita, Y Nakamura, K Lim, J Engel, J Zhou, T Cheng, X Zhu, P Zhu, L Shi |
Cell Discovery | 2022 |
GATA-1 Defects in Diamond–Blackfan Anemia: Phenotypic Characterization Points to a Specific Subset of Disease
B van Dooijeweert, S Kia, N Dahl, O Fenneteau, R Leguit, E Nieuwenhuis, W van Solinge, R van Wijk, L Costa, M Bartels |
Genes & development | 2022 |
Effect of Glucocorticosteroids in Diamond-Blackfan Anaemia: Maybe Not as Elusive as It Seems
Z Macečková, A Kubíčková, J Sanctis, M Hajdúch |
International journal of molecular sciences | 2022 |
Molecular and cellular mechanisms that regulate human erythropoiesis
A Caulier, V Sankaran |
Blood | 2022 |
Epigenetic and Transcriptional Control of Erythropoiesis
Wells M, Steiner L |
Frontiers in Genetics | 2022 |
Genetics of inherited thrombocytopenias
Warren JT, Di Paola J |
Blood | 2022 |
HEATR3 variants impair nuclear import of uL18 (RPL5) and drive Diamond-Blackfan anemia
O\u2019Donohue MF, Da Costa L, Lezzerini M, Unal S, Joret C, Bartels M, Brilstra E, Scheijde-Vermeulen M, Wacheul L, De Keersmaecker K, Vereecke S, Labarque V, Saby M, Lefevre SD, Platon J, Montel-Lehry N, Laugero N, Lacazette E, van Gassen K, Houtkooper RH, Simsek-Kiper PO, Leblanc T, Yarali N, Cetinkaya A, Akarsu NA, Gleizes PE, Lafontaine DL, MacInnes AW |
Blood | 2022 |
Germline GATA1s-generating mutations predispose to leukemia with acquired trisomy 21 and Down syndrome-like phenotype
Hasle H, Kline RM, Kjeldsen E, Nik-Abdul-Rashid NF, Bhojwani D, Verboon JM, DiTroia SP, Chao KR, Raaschou-Jensen K, Palle J, Zwaan CM, Nyvold CG, Sankaran VG, Cantor AB |
Blood | 2022 |
Mutations in RPS19 may affect ribosome function and biogenesis in Diamond Blackfan anemia
Hiregange D, Rivalta A, Yonath A, Zimmerman E, Bashan A, Yonath H |
FEBS Open Bio | 2022 |
Dyserythropoietic anaemia with an intronic GATA1 splicing mutation in patients suspected to have Diamond-Blackfan anaemia.
Kobayashi A, Ohtaka R, Toki T, Hara J, Muramatsu H, Kanezaki R, Takahashi Y, Sato T, Kamio T, Kudo K, Sasaki S, Yoshida T, Utsugisawa T, Kanno H, Yoshida K, Nannya Y, Takahashi Y, Kojima S, Miyano S, Ogawa S, Terui K, Ito E |
2022 | |
Germline GATA1 exon 2 mutation associated with chronic cytopenia and a non-down syndrome transient abnormal myelopoiesis with clonal trisomy 21.
Camargo R, Sahoo SS, Córdoba JC, Magalhães IQ |
Leukemia | 2022 |
The megakaryocytic transcription factor ARID3A suppresses leukemia pathogenesis
Alejo-Valle O, Weigert K, Bhayadia R, Ng M, Issa H, Beyer C, Emmrich S, Schuschel K, Ihling C, Sinz A, Zimmermann M, Wickenhauser C, Flasinski M, Regenyi E, Labuhn M, Reinhardt D, Yaspo ML, Heckl D, Klusmann JH |
Blood | 2022 |
A Novel GATA1 Variant in the C-Terminal Zinc Finger Compared with the Platelet Phenotype of Patients with A Likely Pathogenic Variant in the N-Terminal Zinc Finger
Bastida JM, Malvestiti S, Boeckelmann D, Palma-Barqueros V, Wolter M, Lozano ML, Glonnegger H, Benito R, Zaninetti C, Sobotta F, Schilling FH, Morgan NV, Freson K, Rivera J, Zieger B |
Cells | 2022 |
Inherited bone marrow failure in the pediatric patient
Dokal I, Tummala H, Vulliamy T |
Blood | 2022 |
Mechanism of KIT gene regulation by GATA1 lacking the N-terminal domain in Down syndrome–related myeloid disorders
Kanezaki R, Toki T, Terui K, Sato T, Kobayashi A, Kudo K, Kamio T, Sasaki S, Kawaguchi K, Watanabe K, Ito E |
Scientific Reports | 2022 |
Gata1s mutant mice display persistent defects in the erythroid lineage
Ling T, Zhang K, Yang J, Gurbuxani S, Crispino JD |
Blood Advances | 2022 |
Rare and undiagnosed diseases: From disease-causing gene identification to mechanism elucidation
Wang G, Xu Y, Wang Q, Chai Y, Sun X, Yang F, Zhang J, Wu M, Liao X, Yu X, Sheng X, Liu Z, Zhang J |
2022 | |
Molecular Mechanisms of the Genetic Predisposition to Acute Megakaryoblastic Leukemia in Infants With Down Syndrome
J Grimm, D Heckl, JH Klusmann |
Frontiers in Oncology | 2021 |
Editing GWAS: experimental approaches to dissect and exploit disease-associated genetic variation
S Rao, Y Yao, DE Bauer |
Genome Medicine | 2021 |
Loss of coordinated expression between ribosomal and mitochondrial genes revealed by comprehensive characterization of a large family with a rare Mendelian disorder
B Panici, H Nakajima, CM Carlston, H Ozadam, C Cenik, ES Cenik |
Genomics | 2021 |
Proerythroblast Cells of Diamond-Blackfan Anemia Patients With RPS19 and CECR1 Mutations Have Similar Transcriptomic Signature
B Karaosmanoglu, MA Kursunel, DU Cetinkaya, F Gumruk, G Esendagli, S Unal, EZ Taskiran |
Frontiers in physiology | 2021 |
Pathogenic germline IKZF1 variant alters hematopoietic gene expression profiles
SA Brodie, PP Khincha, N Giri, AJ Bouk, M Steinberg, J Dai, L Jessop, FX Donovan, SC Chandrasekharappa, KC de Andrade, I Maric, SR Ellis, L Mirabello, BP Alter, SA Savage |
Molecular Case Studies | 2021 |
Deciphering transcriptional and functional heterogeneity in hematopoiesis with single-cell genomics
JD Martin-Rufino, VG Sankaran |
Current Opinion in Hematology | 2021 |
Distinguishing constitutional from acquired bone marrow failure in the hematology clinic
EM Groarke, NS Young, KR Calvo |
Best practice & research. Clinical haematology | 2021 |
Long-Term Patient-Customized Therapy for a Pathogenic EPO Mutation
A Ejaz, A Ozcan, E Unal, M Karakukcu, VG Sankaran |
The American Journal of Medicine | 2021 |
Transcription Factors, R-Loops and Deubiquitinating Enzymes: Emerging Targets in Myelodysplastic Syndromes and Acute Myeloid Leukemia
SM Barabino, E Citterio, AE Ronchi |
Cancers | 2021 |
Regulation of RNA polymerase II activity is essential for terminal erythroid maturation
ZC Murphy, K Murphy, J Myers, M Getman, T Couch, VP Schulz, K Lezon-Geyda, C Palumbo, H Yan, N Mohandas, PG Gallagher, LA Steiner |
Blood | 2021 |
Diamond-Blackfan anemia
L Costa, I Marie, T Leblanc |
Hematology / the Education Program of the American Society of Hematology. American Society of Hematology. Education Program | 2021 |
Successful gene therapy of Diamond-Blackfan anemia in a mouse model and human CD34+ cord blood hematopoietic stem cells using a clinically applicable lentiviral vector
Liu Y, Dahl M, Debnath S, Rothe M, Smith EM, Grahn TH, Warsi S, Chen J, Flygare J, Schambach A, Karlsson S |
Haematologica | 2021 |
Oncogenic Gata1 causes stage-specific megakaryocyte differentiation delay
G Juban, N Sakakini, H Chagraoui, DC Hernandez, Q Cheng, K Soady, B Stoilova, C Garnett, D Waithe, G Otto, J Doondeea, B Usukhbayar, E Karkoulia, M Alexiou, J Strouboulis, E Morrissey, I Roberts, C Porcher, P Vyas |
Haematologica | 2020 |
Ribosomopathies: New Therapeutic Perspectives
E Orgebin, F Lamoureux, B Isidor, C Charrier, B Ory, F Lézot, M Baudhuin |
Cells | 2020 |
Post-Transcriptional Regulation of Homeostatic, Stressed, and Malignant Stem Cells
BA Chua, IV Werf, C Jamieson, RA Signer |
Cell Stem Cell | 2020 |
Calmodulin inhibitors improve erythropoiesis in Diamond-Blackfan anemia
AM Taylor, ER Macari, IT Chan, MC Blair, S Doulatov, LT Vo, DM Raiser, K Siva, A Basak, M Pirouz, AN Shah, K McGrath, JM Humphries, E Stillman, BP Alter, E Calo, RI Gregory, VG Sankaran, J Flygare, BL Ebert, Y Zhou, GQ Daley, LI Zon |
Science Translational Medicine | 2020 |
A Review of Diamond-Blackfan Anemia: Current Evidence on Involved Genes and Treatment Modalities
A Tyagi, A Gupta, A Dutta, P Potluri, B Batti |
Cureus | 2020 |
L‐leucine improves anemia and growth in patients with transfusion‐dependent Diamond‐Blackfan anemia: Results from a multicenter pilot phase I/II study from the Diamond‐Blackfan Anemia Registry
A Vlachos, E Atsidaftos, ML Lababidi, E Muir, ZR Rogers, W Alhushki, J Bernstein, B Glader, B Gruner, H Hartung, C Knoll, T Loew, G Nalepa, A Narla, AR Panigrahi, CA Sieff, K Walkovich, JE Farrar, JM Lipton |
Pediatric Blood & Cancer | 2020 |
Control of human hemoglobin switching by LIN28B-mediated regulation of BCL11A translation
A Basak, M Munschauer, CA Lareau, KE Montbleau, JC Ulirsch, CR Hartigan, M Schenone, J Lian, Y Wang, Y Huang, X Wu, L Gehrke, CM Rice, X An, HA Christou, N Mohandas, SA Carr, JJ Chen, SH Orkin, ES Lander, VG Sankaran |
Nature Genetics | 2020 |
Ribosomes: An Exciting Avenue in Stem Cell Research
Z Han, Q Zhang, Y Zhu, J Chen, W Li |
Stem Cells International | 2020 |
Unraveling Hematopoiesis through the Lens of Genomics
LA Liggett, VG Sankaran |
Cell | 2020 |
A genome-wide case-only test for the detection of digenic inheritance in human exomes
G Kerner, M Bouaziz, A Cobat, B Bigio, AT Timberlake, J Bustamante, RP Lifton, JL Casanova, L Abel |
Proceedings of the National Academy of Sciences | 2020 |
Frequency of Pathogenic Germline Variants in Cancer-Susceptibility Genes in Patients With Osteosarcoma
L Mirabello, B Zhu, R Koster, E Karlins, M Dean, M Yeager, M Gianferante, LG Spector, LM Morton, D Karyadi, LL Robison, GT Armstrong, S Bhatia, L Song, N Pankratz, M Pinheiro, JM Gastier-Foster, R Gorlick, SR de Toledo, AS Petrilli, A Patino-Garcia, F Lecanda, M Gutierrez-Jimeno, M Serra, C Hattinger, P Picci, K Scotlandi, AM Flanagan, R Tirabosco, MF Amary, N Kurucu, IE Ilhan, ML Ballinger, DM Thomas, DA Barkauskas, G Mejia-Baltodano, P Valverde, BD Hicks, B Zhu, M Wang, AA Hutchinson, M Tucker, J Sampson, MT Landi, ND Freedman, S Gapstur, B Carter, RN Hoover, SJ Chanock, SA Savage |
JAMA Oncology | 2020 |
Diamond-Blackfan anemia
LD Costa, T Leblanc, N Mohandas |
Blood | 2020 |
GATA1 mutations in red cell disorders
T Ling, JD Crispino |
IUBMB Life | 2019 |
The Pleiotropic Effects of GATA1 and KLF1 in Physiological Erythropoiesis and in Dyserythropoietic Disorders
G Barbarani, C Fugazza, J Strouboulis, AE Ronchi |
Frontiers in physiology | 2019 |
Impaired human hematopoiesis due to a cryptic intronic GATA1 splicing mutation
NJ Abdulhay, C Fiorini, JM Verboon, LS Ludwig, JC Ulirsch, B Zieger, CA Lareau, X Mi, A Roy, EA Obeng, M Erlacher, N Gupta, SB Gabriel, BL Ebert, CM Niemeyer, RN Khoriaty, P Ancliff, HT Gazda, MW Wlodarski, VG Sankaran |
Journal of Experimental Medicine | 2019 |
Transcriptional States and Chromatin Accessibility Underlying Human Erythropoiesis
LS Ludwig, CA Lareau, EL Bao, SK Nandakumar, C Muus, JC Ulirsch, K Chowdhary, JD Buenrostro, N Mohandas, X An, MJ Aryee, A Regev, VG Sankaran |
Cell Reports | 2019 |
Genetic predisposition to MDS: clinical features and clonal evolution
AL Kennedy, A Shimamura |
Blood | 2019 |
Induction of human pluripotent stem cells into kidney tissues by synthetic mRNAs encoding transcription factors
K Hiratsuka, T Monkawa, T Akiyama, Y Nakatake, M Oda, SK Goparaju, H Kimura, N Chikazawa-Nohtomi, S Sato, K Ishiguro, S Yamaguchi, S Suzuki, R Morizane, SB Ko, H Itoh, MS Ko |
Scientific Reports | 2019 |
The genetics of human hematopoiesis and its disruption in disease
EL Bao, AN Cheng, VG Sankaran |
EMBO Molecular Medicine | 2019 |
Functional profiling of single CRISPR/Cas9-edited human long-term hematopoietic stem cells
E Wagenblast, M Azkanaz, SA Smith, L Shakib, JL McLeod, G Krivdova, J Araújo, LD Shultz, OI Gan, JE Dick, ER Lechman |
Nature Communications | 2019 |
Two Novel GATA1 Mutations in Transient Abnormal Myelopoiesis of Thai Neonates with Down Syndrome
K Chukua, C Netsawang, K Padungthai, T Khetkham, P Chokevittaya, O Poonjearansilp, S Prachuktum, S Kositamongkol, W Techasatit, P Silapamongkolkul, W Satayasai, T Pusongchai, P Surapolchai, K Rojnueangnit |
Journal of pediatric genetics | 2019 |
Hallmarks of ribosomopathies
KR Kampen, SO Sulima, S Vereecke, KD Keersmaecker |
Nucleic Acids Research | 2019 |
Zebrafish Models of Diamond-Blackfan Anemia: A Tool for Understanding the Disease Pathogenesis and Drug Discovery
T Uechi, N Kenmochi |
Pharmaceuticals (Basel, Switzerland) | 2019 |
The long and the short of it
DM Bodine |
Blood | 2019 |
Rpl5-Inducible Mouse Model for Studying Diamond-Blackfan Anemia
S Kazerounian, D Yuan, MS Alexander, AH Beggs, HT Gazda |
Discoveries | 2019 |
ARHGEF12 regulates erythropoiesis and is involved in erythroid regeneration after chemotherapy in acute lymphoblastic leukemia patients
Y Xie, L Gao, C Xu, L Chu, L Gao, R Wu, Y Liu, T Liu, X Sun, R Ren, J Tang, Y Zheng, Y Zhou, S Shen |
Haematologica | 2019 |
Ribonuclease Inhibitor 1 regulates erythropoiesis by controlling GATA1 mRNA translation
Vijaykumar Chennupati, Diogo Veiga, Kendle M. Maslowski, Nicola Andina, Aubry Tardivel, Eric Chi-Wang Yu, Martina Stilinovic, Cedric Simillion, Michel A. Duchosal, Manfredo Quadroni, Irene Roberts, Vijay Sankaran, H. Robson MacDonald, Nicolas Fasel, Anne Angelillo-Scherrer, Pascal Schneider, Trang Hoang, Ramanjaneyulu Allam |
Journal of Clinical Investigation | 2018 |
GATA1 insufficiencies in primary myelofibrosis and other hematopoietic disorders: consequences for therapy
T Ling, JD Crispino, M Zingariello, F Martelli, AR Migliaccio |
Expert Review of Hematology | 2018 |
Loss of Full-Length GATA1 Expression in Megakaryocytes Is a Sensitive and Specific Immunohistochemical Marker for the Diagnosis of Myeloid Proliferative Disorder Related to Down Syndrome
WY Lee, OK Weinberg, AG Evans, GS Pinkus |
American Journal of Clinical Pathology | 2018 |
Molecular basis of the human ribosomopathy Shwachman-Diamond syndrome
AJ Warren |
Advances in Biological Regulation | 2018 |
Emerging Therapeutic Approaches for Diamond Blackfan Anemia
A Aspesi, C Borsotti, A Follenzi |
Current gene therapy | 2018 |
Ribosome Levels Selectively Regulate Translation and Lineage Commitment in Human Hematopoiesis
RK Khajuria, M Munschauer, JC Ulirsch, C Fiorini, LS Ludwig, SK McFarland, NJ Abdulhay, H Specht, H Keshishian, DR Mani, M Jovanovic, SR Ellis, CP Fulco, JM Engreitz, S Schütz, J Lian, KW Gripp, OK Weinberg, GS Pinkus, L Gehrke, A Regev, ES Lander, HT Gazda, WY Lee, VG Panse, SA Carr, VG Sankaran |
Cell | 2018 |
Csde1 binds transcripts involved in protein homeostasis and controls their expression in an erythroid cell line
KS Moore, N Yagci, F van Alphen, NA Paolini, R Horos, NM Held, RH Houtkooper, E van den Akker, AB Meijer, PA t Hoen, M von Lindern |
Scientific Reports | 2018 |
A functional assay for the clinical annotation of genetic variants of uncertain significance in Diamond-Blackfan anemia
A Aspesi, M Betti, M Sculco, C Actis, C Olgasi, MW Wlodarski, A Vlachos, JM Lipton, U Ramenghi, C Santoro, A Follenzi, SR Ellis, I Dianzani |
Human Mutation | 2018 |
An update on the pathogenesis and diagnosis of Diamond–Blackfan anemia
LD Costa, A Narla, N Mohandas |
F1000Research | 2018 |
Atypical erythroblastosis in a patient with Diamond–Blackfan anemia who developed del(20q) myelodysplasia
M Sonoda, M Ishimura, Y Ichimiya, E Terashi, K Eguchi, Y Sakai, H Takada, A Hama, H Kanno, T Toki, E Ito, S Ohga |
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 |