Evidence map›Paper›PMID 40225943›Full record

ArticleHuman mutation2024

Functional Analysis of 3'UTR Variants at the

Javier Sanguino Otero, Carmen Rodríguez-Jiménez, Jose Mostaza Prieto, Carlos Rodríguez-Antolín, Ana Carazo Alvarez, Francisco Arrieta Blanco, Sonia Rodríguez-Nóvoa

Abstract read
In one paragraph

Article in Human mutation, 2024. 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
–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

2 citing papers in PubMed.

  1. Review
  2. 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

7 authors.

Javier Sanguino Otero *Department of Genetics of Metabolic Diseases, Hospital Universitario La Paz, Madrid, Spain.ORCID 0000-0003-0342-3781
Carmen Rodríguez-JiménezDepartment of Genetics of Metabolic Diseases, Hospital Universitario La Paz, Madrid, Spain.ORCID 0000-0002-5059-6194
Jose Mostaza PrietoLipid and Vascular Unit, Hospital Carlos III, Madrid, Spain.ORCID 0000-0003-1638-6051
Carlos Rodríguez-AntolínCancer Epigenetics Laboratory, INGEMM, La Paz University Hospital, Madrid, Spain.ORCID 0000-0001-6682-0771
Ana Carazo AlvarezDepartment of Genetics of Metabolic Diseases, Hospital Universitario La Paz, Madrid, Spain.
Francisco Arrieta BlancoDepartment of Endocrinology and Nutrition, Hospital Ramón y Cajal, Madrid, Spain.
Sonia Rodríguez-Nóvoa *Department of Genetics of Metabolic Diseases, Hospital Universitario La Paz, Madrid, Spain.ORCID 0000-0003-4225-3631

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Familial hypercholesterolemia (FH) is an autosomal dominant disease with an estimated prevalence of 1 in 200-250 individuals. Patients with FH are at increased risk of premature coronary artery disease. Early diagnosis and treatment are essential for improving clinical outcomes. In many cases, however, the genetic diagnosis is not confirmed. At present, routine genetic testing does not analyze the 3'UTR regions of

Indexed as

3' Untranslated RegionsHyperlipoproteinemia Type IIProprotein Convertase 9Receptors, LDLAdultAllelesFemaleGene FrequencyGenetic Association StudiesGenetic Predisposition to DiseaseHigh-Throughput Nucleotide SequencingHumansMaleMiddle AgedPolymorphism, Single Nucleotide3' Untranslated RegionsLDLR protein, humanPCSK9 protein, humanProprotein Convertase 9Receptors, LDL

Identifiers

PMID40225943
PMCPMC11918801

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.