Evidence map›Paper›PMID 40806462›Full record

ArticleInternational journal of molecular sciences2025

Chromosomal Deletion Involving ANKRD26 Leads to Expression of a Fusion Protein Responsible for ANKRD26-Related Thrombocytopenia.

Gianluca Dell'Orso, Tommaso Passarella, Serena Cappato, Enrico Cappelli, Stefano Regis, Massimo Maffei, Matilde Balbi, Silvia Ravera, Daniela Di Martino, Silvia Viaggi and 15 more

Abstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
–field-weighted citation impact
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

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.

3 · Its place in the literature

Who cites it

3 citing papers in PubMed.

  1. Article
  2. Review
  3. Article
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

25 authors.

Gianluca Dell'OrsoHematology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.ORCID 0000-0002-6555-7219
Tommaso PassarellaHematology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Serena CappatoUnit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Enrico CappelliHematology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Stefano RegisLaboratory of Clinical and Experimental Immunology, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.ORCID 0000-0002-7723-2294
Massimo MaffeiLaboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.ORCID 0000-0002-2453-9065
Matilde BalbiExperimental Medicine Department, University of Genoa, 16132 Genoa, Italy.
Silvia RaveraExperimental Medicine Department, University of Genoa, 16132 Genoa, Italy.ORCID 0000-0002-0803-1042
Daniela Di MartinoHematology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Silvia ViaggiLaboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.ORCID 0000-0002-3732-9462
Sabrina DavìLaboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Fabio CorsoliniHematology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Maria Carla GiarratanaHematology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Luca ArcuriHematology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.ORCID 0000-0001-9516-9148
Eugenia MarianiHematology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Riccardo MoriniHematology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Erika MassaccesiHematology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.ORCID 0009-0006-4682-3426
Daniela GuardoHematology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Michaela CalvilloHematology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.ORCID 0000-0002-5925-4318
Elena PalmisaniHematology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Domenico CovielloLaboratory of Human Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.ORCID 0000-0001-8440-865X
Francesca FioreddaHematology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Carlo DufourHematology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Renata BocciardiUnit of Medical Genetics, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.
Maurizio MianoHematology Unit, IRCCS Istituto Giannina Gaslini, 16147 Genoa, Italy.ORCID 0000-0002-9816-1704

Funding

Ministero della Salute Grant 5XMILR19Ministero della Salute Ricerca Corrente 2024
6 · The paper itself

Abstract

ANKRD26-related thrombocytopenia (ANKRD26-RT) is characterized by lifelong mild to moderate thrombocytopenia. Patients suffer from an increased susceptibility to acute or chronic myeloid leukemia, myelodysplastic syndrome, or chronic lymphocytic leukemia. We described here a patient with inherited thrombocytopenia initially misdiagnosed as immune thrombocytopenic purpura. A chromosomal deletion involving the

Indexed as

Chromosome DeletionNuclear ProteinsThrombocytopeniaHumansIntercellular Signaling Peptides and ProteinsANKRD26 protein, humanIntercellular Signaling Peptides and ProteinsNuclear ProteinsANKRD26chromosomal deletionfusion proteininherited thrombocytopenia

Identifiers

PMID40806462
PMCPMC12347728

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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.