Evidence map›Paper›PMID 39056767›Full record

ArticleCells2024

Post-GWAS Validation of Target Genes Associated with HbF and HbA

Cristian Antonio Caria, Valeria Faà, Susanna Porcu, Maria Franca Marongiu, Daniela Poddie, Lucia Perseu, Alessandra Meloni, Simona Vaccargiu, Maria Serafina Ristaldi

Abstract read
In one paragraph

Article in Cells, 2024. 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

9 authors.

Cristian Antonio CariaIstituto di Ricerca Genetica e Biomedica, Cittadella Universitaria di Monserrato, SS 554, Bivio Sestu Km 4,500, 09042 Cagliari, Italy.ORCID 0000-0002-6806-3492
Valeria FaàIstituto di Ricerca Genetica e Biomedica, Cittadella Universitaria di Monserrato, SS 554, Bivio Sestu Km 4,500, 09042 Cagliari, Italy.ORCID 0000-0001-9783-7904
Susanna PorcuIstituto di Ricerca Genetica e Biomedica, Cittadella Universitaria di Monserrato, SS 554, Bivio Sestu Km 4,500, 09042 Cagliari, Italy.ORCID 0000-0001-8053-7075
Maria Franca MarongiuIstituto di Ricerca Genetica e Biomedica, Cittadella Universitaria di Monserrato, SS 554, Bivio Sestu Km 4,500, 09042 Cagliari, Italy.ORCID 0000-0003-3363-8046
Daniela PoddieIstituto di Ricerca Genetica e Biomedica, Cittadella Universitaria di Monserrato, SS 554, Bivio Sestu Km 4,500, 09042 Cagliari, Italy.
Lucia PerseuIstituto di Ricerca Genetica e Biomedica, Cittadella Universitaria di Monserrato, SS 554, Bivio Sestu Km 4,500, 09042 Cagliari, Italy.
Alessandra MeloniIstituto di Ricerca Genetica e Biomedica, Cittadella Universitaria di Monserrato, SS 554, Bivio Sestu Km 4,500, 09042 Cagliari, Italy.
Simona VaccargiuIstituto di Ricerca Genetica e Biomedica, Cittadella Universitaria di Monserrato, SS 554, Bivio Sestu Km 4,500, 09042 Cagliari, Italy.
Maria Serafina RistaldiIstituto di Ricerca Genetica e Biomedica, Cittadella Universitaria di Monserrato, SS 554, Bivio Sestu Km 4,500, 09042 Cagliari, Italy.ORCID 0000-0003-4122-9293

Funding

Telethon Foundation GGP20046
6 · The paper itself

Abstract

Genome-Wide Association Studies (GWASs) have identified a huge number of variants associated with different traits. However, their validation through in vitro and in vivo studies often lags well behind their identification. For variants associated with traits or diseases of biomedical interest, this gap delays the development of possible therapies. This issue also impacts beta-hemoglobinopathies, such as beta-thalassemia and sickle cell disease (SCD). The definitive cures for these diseases are currently bone marrow transplantation and gene therapy. However, limitations regarding their effective use restrict their worldwide application. Great efforts have been made to identify whether modulators of fetal hemoglobin (HbF) and, to a lesser extent, hemoglobin A2 (HbA

Indexed as

Fetal HemoglobinGenome-Wide Association StudyHemoglobin A2Anemia, Sickle CellAnimalsbeta-Globinsbeta-ThalassemiaGene Expression RegulationHumansMicebeta-GlobinsFetal HemoglobinHemoglobin A2beta-hemoglobinopathiesCCND3NFIX

Identifiers

PMID39056767
PMCPMC11274989

What OpenQuestion holds

Textmetadata
LicenceCC BY
Read underepoch 390

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.