Evidence map›Paper›PMID 37962621›Full record

ArticleAnnals of hematology2024

Hereditary thrombocythemia due to splicing donor site mutation of THPO in a Japanese family.

Hiroyuki Kimura, Masahiro Onozawa, Junichi Hashiguchi, Daisuke Hidaka, Minoru Kanaya, Toshihiro Matsukawa, Hiromi Okada, Takeshi Kondo, Yoshihiro Matsuno, Takanori Teshima

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Article in Annals of hematology, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.3field-weighted citation impact, top 32% of its field
1 · What the graph read from it

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.

2 · The registry

The trial behind it

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Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

0 citing papers in PubMed, 1 citations in OpenAlex.

No citing paper in PubMed yet.

4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

10 authors at 2 institutions in 1 country.

Hiroyuki KimuraDepartment of Hematology, Hokkaido University Faculty of Medicine, Graduate School of Medicine, Kita 15, Nishi 7, Kita-Ku, Sapporo, Japan.
Masahiro OnozawaDepartment of Hematology, Hokkaido University Faculty of Medicine, Graduate School of Medicine, Kita 15, Nishi 7, Kita-Ku, Sapporo, Japan. onozawa@med.hokudai.ac.jp.ORCID http://orcid.org/0000-0001-9267-2864
Junichi HashiguchiDepartment of Hematology, Hokkaido University Faculty of Medicine, Graduate School of Medicine, Kita 15, Nishi 7, Kita-Ku, Sapporo, Japan.
Daisuke HidakaDepartment of Hematology, Hokkaido University Faculty of Medicine, Graduate School of Medicine, Kita 15, Nishi 7, Kita-Ku, Sapporo, Japan.
Minoru KanayaBlood Disorders Center, Aiiku Hospital, Sapporo, Japan.
Toshihiro MatsukawaDepartment of Hematology, Hokkaido University Faculty of Medicine, Graduate School of Medicine, Kita 15, Nishi 7, Kita-Ku, Sapporo, Japan.
Hiromi OkadaDepartment of Surgical Pathology, Hokkaido University Hospital, Sapporo, Japan.
Takeshi KondoBlood Disorders Center, Aiiku Hospital, Sapporo, Japan.
Yoshihiro MatsunoDepartment of Surgical Pathology, Hokkaido University Hospital, Sapporo, Japan.
Takanori TeshimaDepartment of Hematology, Hokkaido University Faculty of Medicine, Graduate School of Medicine, Kita 15, Nishi 7, Kita-Ku, Sapporo, Japan.
Hokkaido University · JPHokkaido University Hospital · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Thrombopoietin (THPO) is an essential factor for platelet production. Hereditary thrombocythemia (HT) is caused by a germline mutation of THPO, MPL, or JAK2 and is inherited in an autosomal-dominant manner. We identified a Japanese family with HT due to a point mutation of the splicing donor site of the THPO gene (THPO c.13 + 1G > A). Bone marrow biopsy showed increased megakaryocytes mimicking essential thrombocythemia. One affected family member developed chronic myeloid leukemia. We cloned the mutation and developed mutated and wild type THPO expression vectors. Molecular analysis showed that the mutation causes an exon 3 skipping transcript of THPO that abrogates a suppressive untranslated upstream open reading frame. Although the transcript levels of THPO mRNA were comparable, mutated transcripts were more efficiently translated and THPO protein expression was significantly higher than that of the wild type.

Indexed as

ThrombocytosisThrombopoietinCalcium-Binding ProteinsHumansJapanMutationTrans-ActivatorsCalcium-Binding ProteinsCAMTA2 protein, humanThrombopoietinTrans-ActivatorsCongenital thrombocytosisExon skippingHereditary thrombocythemiaThrombopoietin

Identifiers

PMID37962621
OpenAlexW4388659515

What OpenQuestion holds

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Registered trials

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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.