Exome sequencing identifies GATA1 mutations resulting in Diamond-Blackfan anemia

Cited by (342)

Items 301–342 of 342

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  4. Two Novel GATA1 Mutations in Transient Abnormal Myelopoiesis of Thai Neonates with Down Syndrome
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  7. Diamond Blackfan anemia & other hereditary red cell disorders: spotting phenotypes
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  9. Oxidative phosphorylation pathway disruption is an alternative pathological mechanism leading to Diamond-Blackfan anemia
    Rudan Xiao, Lijuan Zhang, Zijuan Xin, Junwei Zhu, Qian Zhang, Siyun Chu, Jing Wu, Lu Zhang, Yang Wan, Xiaojuan Chen et al. · 2022 · bioRxiv (Cold Spring Harbor Laboratory)
  10. Faculty Opinions recommendation of Ribonuclease inhibitor 1 regulates erythropoiesis by controlling GATA1 translation.
    Narla Mohandas · 2018 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
  11. Faculty Opinions recommendation of Ribosome levels selectively regulate translation and lineage commitment in human hematopoiesis.
    Alan M. Johnson · 2019 · Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
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  15. GATA1 Gene Polymorphisms in Down Syndrome Patients
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  17. Transient erythroblastopenia due to a GATA1 variant in an infant female
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  18. The molecular basis of bone marrow failure syndromes and red cell enzymopathies
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  19. Single-cell transcriptomics reveal individual and synergistic effects of Trisomy 21 and GATA1s on hematopoiesis
    Kaoru Takasaki, Eric K. Wafula, Sara S. Kumar, David L Smith, Ying Ting Sit, Alyssa L. Gagne, Deborah L. French, Christopher S. Thom, Stella T. Chou · 2024 · bioRxiv (Cold Spring Harbor Laboratory)
  20. CRISPR-CAS9-MEDIATED EX VIVO GENE EDITING FOR INHERITED HEMATOLOGICAL DISORDERS: ADVANCEMENTS, CHALLENGES, AND CLINICAL POTENTIAL
    ATASI RANJAN PANDA, S.R. Das · 2024 · International Journal of Pharmacy and Pharmaceutical Sciences
  21. Diagnosis and treatment of Diamond-Blackfan anemia and Pierre-Robin sequence caused by a novel mutation of RPS28 gene
    Shaofen Lin, Lele Hou, Xinyu Li, Li‐Ping Que, Xiaojuan Li, Jianpei Fang, Hong-Gui Xu, Ke Huang · 2025 · Hematology
  22. Bone Marrow Failure
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  23. Expanding the genetic spectrum of Diamond-Blackfan anemia: novel mutations in RPS19, RPL5, and RPS10
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  24. Lipid metabolism transcriptomic signature of defective erythropoiesis in Diamond Blackfan anemia syndrome
    Kaiwen Deng, Yu Wang, Joseph Min, Xiaofang Liu, Hiroki Ueharu, Greggory Myers, Lei Yu, Susan Hammoud, Adham Adam, Rilie Saba et al. · 2026 · Blood Advances
  25. Genetic influences on haematopoiesis
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  26. Pathophysiology of Ribosomal Disorders
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  27. Comprehensive transcriptomic analysis highlights immune and cell-cycle dysregulation in Diamond-Blackfan Anaemia
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  28. Les thrombopénies héréditaires rares : implications des gènes ETV6, ITGA2B, ITGB3
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  30. Identification de gènes candidats pour l'anémie de Blackfan-Diamond et caractérisation phénotypique
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  31. Implication de la voie p53 dans les syndromes d'insuffisance médullaire
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  34. Identification et caractérisation de gènes candidats pour la découverte de nouveaux mécanismes physiopathologiques à l'origine de l'anémie de Blackfan-Diamond
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  35. High resolution characterization of human erythroid progenitor’s heterogeneity : implications for understanding physiological and pathological erythropoiesis.
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  36. Assemblage et dysfonctionnement de ribosomes mammifères : une étude structure-fonction par cryo-MET
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  38. Results from the first clinical trial of bitopertin for steroid-relapsed/refractory Diamond-Blackfan anemia
    David J. Young, Tania Rene Machado, Bretagne Cowling, Raymond T. Doty, Sanjay Venugopal, Colin O. Wu, Janis L. Abkowitz, William Savage, Cynthia E. Dunbar · 2026 · Blood Red Cells & Iron
  39. Altered translation efficiency of specific mRNAs in a zebrafish model of Diamond-Blackfan anemia syndrome
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