ArticleMolecular genetics and metabolism2017
Combined alpha-delta platelet storage pool deficiency is associated with mutations in GFI1B.
Article in Molecular genetics and metabolism, 2017. 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, 32 citations in OpenAlex.
- GFI1B mutations define an emerging form of inherited thrombocytopenia: insights from a case report and literature review.Annals of hematology · 2026Review
- GFI1B and LSD1 repress myeloid traits during megakaryocyte differentiation.Communications biology · 2024Article
- Evaluating the clinical validity of genes related to hemostasis and thrombosis using the Clinical Genome Resource gene curation framework.Journal of thrombosis and haemostasis : JTH · 2024Article
- Dysregulation of oncogenic factors by GFI1B p32: investigation of a novelHaematologica · 2022Article
- Inherited Platelet Disorders: An Updated Overview.International journal of molecular sciences · 2021Review
- Dominant negative Gfi1b mutations cause moderate thrombocytopenia and an impaired stress thrombopoiesis associated with mild erythropoietic abnormalities in mice.Haematologica · 2020Article
- Platelet δ-Storage Pool Disease: An Update.Journal of clinical medicine · 2020Review
- Molecular mechanisms of bleeding disorderassociated GFI1BHaematologica · 2019Article
- Inherited missense variants that affect GFI1B function do not necessarily cause bleeding diatheses.Haematologica · 2019Article
- Severe bleeding with subclinical oculocutaneous albinism in a patient with a novel HPS6 missense variant.American journal of medical genetics. Part A · 2018Article
- Genomics and transcriptomics of megakaryocytes and platelets: Implications for health and disease.Research and practice in thrombosis and haemostasis · 2018Review
- High-throughput sequencing for rapid diagnosis of inherited platelet disorders: a case for a European consensus.Haematologica · 2018Article
- Recessive grey platelet-like syndrome with unaffected erythropoiesis in the absence of the splice isoform GFI1B-p37.Haematologica · 2017Article
- Transcription Factor GFI1B in Health and Disease.Frontiers in oncology · 2017Review
Corrections and comments
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Authors and funding
9 authors at 5 institutions in 1 country.
Funding
Abstract
Combined alpha-delta platelet storage pool deficiency is characterized by the absence or reduction in the number of both alpha granules and dense bodies. This disorder can have variable severity as well as a variable inheritance pattern. We describe two patients from unrelated families with combined alpha-delta storage pool deficiency due to mutations in GFI1B, a zinc finger protein known to act as a transcriptional repressor of various genes. We demonstrate that this disease is associated with either a heterozygous mutation (de novo or familial) abrogating the binding of the zinc fingers with the promoter of its target genes, or by hypomorphic biallelic mutations in GFI1B leading to autosomal recessive inheritance.
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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.