ReviewJournal of clinical medicine2021
Learning the Ropes of Platelet Count Regulation: Inherited Thrombocytopenias.
Review in Journal of clinical medicine, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 papers.
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Who cites it
14 citing papers in PubMed, 25 citations in OpenAlex.
- The co-inheritance of twoHaematologica · 2026Article
- Molecular diagnosis of inherited platelet disorders: a tale of two realities - advanced vs. resource-limited setting.Thrombosis journal · 2025Review
- Management of patients with congenital bleeding disorders and cardiac indications for antithrombotic therapy.European heart journal. Cardiovascular pharmacotherapy · 2025Review
- Screening for gene variants causing inherited platelet disorders: are the cons always cons?Blood vessels, thrombosis & hemostasis · 2025Article
- Actin-bundling protein L-plastin promotes megakaryocyte rigidity and dampens proplatelet formation.Haematologica · 2024Article
- Novel variants in GALE cause syndromic macrothrombocytopenia by disrupting glycosylation and thrombopoiesis.Blood · 2023Article
- NovelCells · 2022Article
- Genetics of inherited thrombocytopenias.Blood · 2022Review
- A novel nonsense variant in TPM4 caused dominant macrothrombocytopenia, mild bleeding tendency and disrupted cytoskeleton remodeling.Journal of thrombosis and haemostasis : JTH · 2022Article
- Novel THPO variant in hereditary thrombocytopenia: A potential candidate variant for predisposition to myeloid neoplasm.PloS one · 2022Article
- Expanding the genetic spectrum of TUBB1-related thrombocytopenia.Blood advances · 2021Article
- Special Issue: "The Latest Clinical Advances in Thrombocytopenia".Journal of clinical medicine · 2021Article
- Inherited Platelet Disorders: An Updated Overview.International journal of molecular sciences · 2021Review
- Role of Thrombopoietin Receptor Agonists in Inherited Thrombocytopenia.International journal of molecular sciences · 2021Review
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 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Inherited thrombocytopenias (IT) are a group of hereditary disorders characterized by a reduced platelet count sometimes associated with abnormal platelet function, which can lead to bleeding but also to syndromic manifestations and predispositions to other disorders. Currently at least 41 disorders caused by mutations in 42 different genes have been described. The pathogenic mechanisms of many forms of IT have been identified as well as the gene variants implicated in megakaryocyte maturation or platelet formation and clearance, while for several of them the pathogenic mechanism is still unknown. A range of therapeutic approaches are now available to improve survival and quality of life of patients with IT; it is thus important to recognize an IT and establish a precise diagnosis. ITs may be difficult to diagnose and an initial accurate clinical evaluation is mandatory. A combination of clinical and traditional laboratory approaches together with advanced sequencing techniques provide the highest rate of diagnostic success. Despite advancement in the diagnosis of IT, around 50% of patients still do not receive a diagnosis, therefore further research in the field of ITs is warranted to further improve patient care.
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Registered trials
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