Evidence map›Paper›PMID 33472357›Full record

ArticleHaematologica2022

Dysregulation of oncogenic factors by GFI1B p32: investigation of a novel

Michela Faleschini, Nicole Papa, Marie-Christine Morel-Kopp, Caterina Marconi, Tania Giangregorio, Federica Melazzini, Valeria Bozzi, Marco Seri, Patrizia Noris, Alessandro Pecci and 2 more

Open access · goldAbstract read
In one paragraph

Article in Haematologica, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.2field-weighted citation impact, top 43% 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

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

2 citing papers in PubMed, 3 citations in OpenAlex.

  1. Review
  2. Review
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

12 authors at 5 institutions in 2 countries.

Michela FaleschiniInstitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste.
Nicole PapaInstitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste.
Marie-Christine Morel-KoppDepartment of Haematology and Transfusion Medicine, Royal North Shore Hospital and Northern Blood Research Centre, Kolling Institute, University of Sydney, Sydney.
Caterina MarconiDepartment of Medical and Surgical Sciences, University of Bologna, Bologna.
Tania GiangregorioInstitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste.
Federica MelazziniBiotechnology Research Laboratories, IRCCS Policlinico San Matteo Foundation, Pavia.
Valeria BozziBiotechnology Research Laboratories, IRCCS Policlinico San Matteo Foundation, Pavia.
Marco SeriDepartment of Medical and Surgical Sciences, University of Bologna, Bologna.
Patrizia NorisBiotechnology Research Laboratories, IRCCS Policlinico San Matteo Foundation, Pavia.
Alessandro PecciBiotechnology Research Laboratories, IRCCS Policlinico San Matteo Foundation, Pavia.
Anna SavoiaInstitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste, Italy; Department of Medical Sciences, University of Trieste, Trieste. anna.savoia@burlo.trieste.it.
Roberta BottegaInstitute for Maternal and Child Health - IRCCS Burlo Garofolo, Trieste.
IRCCS Materno Infantile Burlo Garofolo · ITIstituti di Ricovero e Cura a Carattere Scientifico · ITPoliclinico San Matteo Fondazione · ITUniversity of Bologna · ITUniversity of Sydney · AU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

GFI1B is a transcription factor essential for the regulation of erythropoiesis and megakaryopoiesis, and pathogenic variants have been associated with thrombocytopenia and bleeding. Analysing thrombocytopenic families by whole exome sequencing, we identified a novel GFI1B variant (c.648+5G>A), which causes exon 9 skipping and overexpression of a shorter p32 isoform. We report the clinical data of our patients and critically review the phenotype observed in individuals with different GFI1B variants leading to the same effect on the p32 expression. Since p32 is increased in acute and chronic leukemia cells, we tested the expression level of genes playing a role in various type of cancers, including hematological tumors and found that they are significantly dysregulated, suggesting a potential role for GFI1B in carcinogenesis regulation. Increasing the detection of individuals with GFI1B variants will allow us to better characterize this rare disease and determine whether it is associated with an increased risk of developing malignancies.

Indexed as

Germ-Line MutationThrombocytopeniaCarcinogenesisHumansProto-Oncogene ProteinsRepressor ProteinsGFI1B protein, humanProto-Oncogene ProteinsRepressor Proteins

Identifiers

PMID33472357
PMCPMC8719102
OpenAlexW3122125726

What OpenQuestion holds

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LicenceCC BY-NC
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Registered trials

None linked

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.