ReviewEMBO molecular medicine2019
The genetics of human hematopoiesis and its disruption in disease.
Review in EMBO molecular medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 29 papers, 1 of them a synthesis that pooled it.
What it found
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The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
29 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Pooled it
- SMC2 and Condensin II Subunits Are Essential for the Development of Hematopoietic Stem and Progenitor Cells in Zebrafish.Journal of cellular physiology · 2025Article
- A β-Thalassemia Cell Biobank: Updates, Further Validation in Genetic and Therapeutic Research and Opportunities During (and After) the COVID-19 Pandemic.Journal of clinical medicine · 2025Article
- Optimizing single cell RNA sequencing of stem cells. A streamlined workflow for enhanced sensitivity and reproducibility in hematopoietic studies. The use of human umbilical cord blood-derived hematopoietic stem and progenitor cells.Frontiers in cell and developmental biology · 2025Article
- Nucleotide depletion promotes cell fate transitions by inducing DNA replication stress.Developmental cell · 2024Article
- Dissecting heritability, environmental risk, and air pollution causal effects using > 50 million individuals in MarketScan.Nature communications · 2024Article
- FLT3L governs the development of partially overlapping hematopoietic lineages in humans and mice.Cell · 2024Article
- The landscape of SETBP1 gene expression and transcription factor activity across human tissues.PloS one · 2024Article
- Placental cell conditioned media modifies hematopoietic stem cell transcriptome invitro.Placenta · 2024Article
- Genetic examination of hematological parameters in SARS-CoV-2 infection and COVID-19.Blood cells, molecules & diseases · 2023Article
- The landscape ofbioRxiv : the preprint server for biology · 2023Article
- E7 Oncogene HPV58 Variants Detected in Northeast Brazil: Genetic and Functional Analysis.Microorganisms · 2023Article
- Genetic adaptation to pathogens and increased risk of inflammatory disorders in post-Neolithic Europe.Cell genomics · 2023Article
- Single-cell multi-omics and lineage tracing to dissect cell fate decision-making.Stem cell reports · 2023Review
- Hereditary predisposition to malignant myeloid hemopathies: Caution in use of saliva and guideline based on our experience.Frontiers in oncology · 2023Article
- The Contribution ofInternational journal of molecular sciences · 2022Review
- Antisenescence effect of REAC biomodulation to counteract the evolution of myelodysplastic syndrome.Physiological research · 2022Article
- Article
- Genetic Examination of Hematological Parameters in SARS-CoV-2 Infection and COVID-19.medRxiv : the preprint server for health sciences · 2022Article
- Nanoparticles targeting hematopoietic stem and progenitor cells: Multimodal carriers for the treatment of hematological diseases.Frontiers in genome editing · 2022Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors.
Funding
Abstract
Hematopoiesis, or the process of blood cell production, is a paradigm of multi-lineage cellular differentiation that has been extensively studied, yet in many aspects remains incompletely understood. Nearly all clinically measured hematopoietic traits exhibit extensive variation and are highly heritable, underscoring the importance of genetic variation in these processes. This review explores how human genetics have illuminated our understanding of hematopoiesis in health and disease. The study of rare mutations in blood and immune disorders has elucidated novel roles for regulators of hematopoiesis and uncovered numerous important molecular pathways, as seen through examples such as Diamond-Blackfan anemia and the GATA2 deficiency syndromes. Additionally, population studies of common genetic variation have revealed mechanisms by which human hematopoiesis can be modulated. We discuss advances in functionally characterizing common variants associated with blood cell traits and discuss therapeutic insights, such as the discovery of BCL11A as a modulator of fetal hemoglobin expression. Finally, as genetic techniques continue to evolve, we discuss the prospects, challenges, and unanswered questions that lie ahead in this burgeoning field.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.