ArticleInternational journal of hematology2019
Essential thrombocytosis attributed to JAK2-T875N germline mutation.
Article in International journal of hematology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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.
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
10 citing papers in PubMed, 15 citations in OpenAlex.
- JAK2 p.R564 germ line variants associated with hereditary thrombocythemia and hematologic neoplasms.Blood advances · 2025Article
- Hereditary thrombocythemia due to splicing donor site mutation of THPO in a Japanese family.Annals of hematology · 2024Article
- Article
- Characterization of myeloproliferative neoplasms in the paediatric and young adult population.British journal of haematology · 2023Article
- Recurrent germline variant in ATM associated with familial myeloproliferative neoplasms.Leukemia · 2023Article
- Histological and genetic characterization and follow-up of 130 patients with chronic triple-negative thrombocytosis.Haematologica · 2022Article
- EAHP 2020 workshop proceedings, pediatric myeloid neoplasms.Virchows Archiv : an international journal of pathology · 2022Article
- Thrombocytosis in children and adolescents-classification, diagnostic approach, and clinical management.Annals of hematology · 2021Review
- Genetics of donor cell leukemia in acute myelogenous leukemia and myelodysplastic syndrome.Bone marrow transplantation · 2021Review
- New progress in the study of germline susceptibility genes of myeloid neoplasms.Oncology letters · 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
10 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
The aim of this study was to elucidate the role of a non-canonical JAK2 mutation JAK2-T875N, which was identified by exome sequencing in a patient with essential thrombocytosis (ET) who had a family history of suspecting ET. Whole exome sequencing was performed on peripheral blood mononuclear cells and buccal swab-derived genomic DNA. Sanger sequencing was performed to confirm the variant. We evaluated the function of the mutation on JAK2 activity and downstream signaling (Erk, STATs) using JAK2-T875N-transfected or transduced cell lines. 293T cells transfected with JAK2 cDNA carrying V617F or T875N mutations showed increased levels of phosphorylated JAK2 and Erk. Enhanced STAT3 and STAT5 activity was confirmed by promoter assay. JAK2-T875N-transduced Ba/F3 cells showed increased cellular growth without IL-3 stimulation. To our knowledge, this is the first case of ET caused by JAK2-T875N mutation with a family history of thrombocytosis and cerebral infarction.
Indexed as
Identifiers
What OpenQuestion holds
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.