ReviewNature reviews. Genetics2019
Somatic genetic rescue in Mendelian haematopoietic diseases.
Review in Nature reviews. Genetics, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 67 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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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.
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Who cites it
67 citing papers in PubMed, 114 citations in OpenAlex.
- Effects of nandrolone decanoate on telomere length and clinical outcome in patients with telomeropathies: a prospective trial.Haematologica · 2023Trial
- Novel germline GATA1s-generating variant associates with somatic STAG2 variants in hypoplastic myelodysplastic neoplasm.British journal of haematology · 2026Article
- Genetic influences on haematopoiesis.Nature reviews. Genetics · 2026Review
- Paediatric-onset autoimmune cytopenia: How can we reduce the long-term mortality?British journal of haematology · 2026Article
- The Nucleolus in Human Disease: Ribosome Biogenesis, Nucleolar Surveillance, and Therapeutic Opportunities.Biomolecules · 2026Review
- From a novel pathogenic SAMD9L variant to cohort-wide insights: Whole-genome sequencing highlights somatic genetic rescue and phenotypic heterogeneity.British journal of haematology · 2026Article
- Dominant-negative PSMB10 disrupts immunoproteasome assembly and leads to transient T lymphopenia.Journal of human immunity · 2026Article
- A Case of Long-Term Management of Oral Function in a Child with Dyskeratosis Congenita.Diagnostics (Basel, Switzerland) · 2026Article
- Clonal Signatures of Telomere Biology Disorders.Current hematologic malignancy reports · 2026Review
- Functional impact of the eIF6 N106S mutation on ribosome biogenesis in wild type and Shwachman-Diamond syndrome cells.Molecular medicine (Cambridge, Mass.) · 2026Article
- Article
- Maladaptive somatic gene rescue as predisposition to JAK2 molecular abnormalities? Insights from an Israeli family.Annals of hematology · 2026Article
- Hematopoietic (stem) cells-The elixir of life?FEBS letters · 2026Review
- Clinical, cytogenetic, and molecular insights from 32 years of the Portuguese Fanconi anemia cohort.Genetics in medicine open · 2026Article
- Dyskerin dysfunction in cancer development: from telomere dysregulation to immune deficiency.American journal of cancer research · 2026Review
- Molecular diagnostics 101: how to use genetic tests in classical hematology.Hematology. American Society of Hematology. Education Program · 2025Review
- Insights in bone marrow failure syndromes: take home messages from the 3rd ESH-EBMT-EHA-IPIG translational research conference.Bone marrow transplantation · 2025Article
- Somatic reversion in CD137 deficiency correlating with Epstein-Barr virus control and clinical improvement.NPJ genomic medicine · 2025Article
- Genetic Predisposition to Hematologic Malignancies.Cold Spring Harbor perspectives in medicine · 2025Review
- Germline and somatic genetic landscape of pediatric myelodysplastic syndromes.Haematologica · 2025Review
7 more citing papers are in PubMed but not listed here.
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 at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Somatic mutations occur spontaneously in normal individuals and accumulate throughout life. These genetic modifications contribute to progressive ageing phenotypes and are directly involved in cancer development. However, a growing number of studies of Mendelian haematopoietic disorders indicate that somatic genetic events can offset the pathogenic effect of germline mutations at the cellular level, leading to genetic mosaicism and, in some cases, resulting in a milder disease phenotype. Notably, spontaneous genetic events that confer a positive effect on cells do not always benefit the individual, for whom the effects can be neutral or even clinically detrimental. These somatic genetic rescue events have important diagnostic, therapeutic and clinical consequences and constitute valuable models for studying the differentiation and/or homeostasis of haematopoietic lineages.
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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.