ArticleBlood2017
Rare variants in GP1BB are responsible for autosomal dominant macrothrombocytopenia.
Article in Blood, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 24 papers.
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Who cites it
24 citing papers in PubMed, 52 citations in OpenAlex.
- α-Actinin-1 in Megakaryocytes: Its Structure, Interacting Proteins and Implications for Thrombopoiesis.Biomedicines · 2025Review
- Differential gene expression study in whole blood identifies candidate genes for psychosis in African American individuals.Schizophrenia research · 2025Article
- The role of genetic sequencing in the diagnostic workup for chronic immune thrombocytopenia.Blood advances · 2025Article
- Platelet RNA-Seq Reveals Genes Associated with Carotid Intima-Media Thickness: A Cross-Sectional Study.TH open : companion journal to thrombosis and haemostasis · 2025Article
- Article
- GP1BB c.179C > T is the most frequent cause of monoallelic Bernard-Soulier syndrome in the Italian population after the Bolzano variant: a report of two new families.Annals of hematology · 2023Article
- Integrated proteogenomic characterization across major histological types of pituitary neuroendocrine tumors.Cell research · 2022Article
- Genetics of inherited thrombocytopenias.Blood · 2022Review
- AInternational journal of molecular sciences · 2022Article
- A Novel Mutation inInternational journal of molecular sciences · 2021Article
- Inherited Platelet Disorders: An Updated Overview.International journal of molecular sciences · 2021Review
- A Sardinian founder mutation in glycoprotein Ib platelet subunit beta (GP1BB) that impacts thrombocytopenia.British journal of haematology · 2020Article
- Structure-function of platelet glycoprotein Ib-IX.Journal of thrombosis and haemostasis : JTH · 2020Review
- Article
- Inherited thrombocytopenias: history, advances and perspectives.Haematologica · 2020Review
- Article
- Diagnostic high-throughput sequencing of 2396 patients with bleeding, thrombotic, and platelet disorders.Blood · 2019Article
- Genome-wide linkage analysis and whole-exome sequencing identifies an ITGA2B mutation in a family with thrombocytopenia.British journal of haematology · 2019Article
- Hemizygosity for the gene encoding glycoprotein Ibβ is not responsible for macrothrombocytopenia and bleeding in patients with 22q11 deletion syndrome.Journal of thrombosis and haemostasis : JTH · 2019Article
- A large deletion in the GP9 gene in Cocker Spaniel dogs with Bernard-Soulier syndrome.PloS one · 2019Article
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Authors and funding
26 authors at 8 institutions in 5 countries.
Funding
Abstract
The von Willebrand receptor complex, which is composed of the glycoproteins Ibα, Ibβ, GPV, and GPIX, plays an essential role in the earliest steps in hemostasis. During the last 4 decades, it has become apparent that loss of function of any 1 of 3 of the genes encoding these glycoproteins (namely, GP1BA, GP1BB, and GP9) leads to autosomal recessive macrothrombocytopenia complicated by bleeding. A small number of variants in GP1BA have been reported to cause a milder and dominant form of macrothrombocytopenia, but only 2 tentative reports exist of such a variant in GP1BB By analyzing data from a collection of more than 1000 genome-sequenced patients with a rare bleeding and/or platelet disorder, we have identified a significant association between rare monoallelic variants in GP1BB and macrothrombocytopenia. To strengthen our findings, we sought further cases in 2 additional collections in the United Kingdom and Japan. Across 18 families exhibiting phenotypes consistent with autosomal dominant inheritance of macrothrombocytopenia, we report on 27 affected cases carrying 1 of 9 rare variants in GP1BB.
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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.