Evidence map›Paper›PMID 34831401›Full record

ArticleCells2021

Expanding the Evidence of a Semi-Dominant Inheritance in

Natalia Gallego, Alejandro Cruz-Utrilla, Inmaculada Guillén, Amparo Moya Bonora, Nuria Ochoa, Pedro Arias, Pablo Lapunzina, Pilar Escribano-Subias, Julián Nevado, Jair Tenorio-Castaño

Open access · goldAbstract read
In one paragraph

Article in Cells, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.

0numbers the graph read from it
0cells of the map it votes in
11citing papers in PubMed
2.1field-weighted citation impact, top 12% 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

11 citing papers in PubMed, 16 citations in OpenAlex.

  1. Article
  2. Article
  3. Article
  4. Article
  5. Defining the clinical validity of genes reported to cause pulmonary arterial hypertension.Genetics in medicine : official journal of the American College of Medical Genetics · 2023
    Article
  6. Article
  7. Review
  8. AThe Journal of international medical research · 2023
    Article
  9. Article
  10. Molecular genetics of pulmonary hypertension in children.Current opinion in genetics & development · 2022
    Review
  11. 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

10 authors at 4 institutions in 2 countries.

Natalia GallegoInstituto de Genética Médica y Molecular (INGEMM), IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain.
Alejandro Cruz-UtrillaPulmonary Hypertension Unit, Department of Cardiology, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.ORCID 0000-0002-3851-4037
Inmaculada GuillénPediatric Cardiology Unit, Department of Pediatrics, Hospital Universitario Virgen del Rocío, 41013 Sevilla, Spain.
Amparo Moya BonoraPediatric Cardiology Unit, Department of Pediatrics, Hospital Universitario La Fe, 46026 Valencia, Spain.
Nuria OchoaPulmonary Hypertension Unit, Department of Cardiology, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.ORCID 0000-0002-7018-9844
Pedro AriasInstituto de Genética Médica y Molecular (INGEMM), IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain.
Pablo LapunzinaInstituto de Genética Médica y Molecular (INGEMM), IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain.ORCID 0000-0002-6324-4825
Pilar Escribano-SubiasPulmonary Hypertension Unit, Department of Cardiology, Hospital Universitario 12 de Octubre, 28041 Madrid, Spain.ORCID 0000-0002-6640-4839
Julián NevadoInstituto de Genética Médica y Molecular (INGEMM), IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain.
Jair Tenorio-CastañoInstituto de Genética Médica y Molecular (INGEMM), IdiPaz, Hospital Universitario La Paz, 28046 Madrid, Spain.
European Organisation for Rare Diseases · FRInstituto de Salud Carlos III · ESHospital Universitari i Politècnic La Fe · ESHospital Universitario Virgen del Rocío · ES

Funding

Federación Española de Enfermedades RarasFundation against PAHInstituto de Salud Carlos III CM20/00164Instituto de Salud Carlos III FISPI18/01233
6 · The paper itself

Abstract

Pulmonary arterial hypertension (PAH) sometimes co-exists with hereditary hemorrhagic telangiectasia (HHT). Despite being clinically diagnosable according to Curaçao criteria, HHT can be difficult to diagnose due to its clinically heterogenicity and highly overlapping with PAH. Genetic analysis of the associated genes

Indexed as

Genes, DominantGenetic Predisposition to DiseaseAdolescentBase SequenceChildChild, PreschoolFemaleGrowth Differentiation Factor 2HumansInheritance PatternsMalePedigreePolymorphism, Single NucleotidePulmonary Arterial HypertensionGDF2 protein, humanGrowth Differentiation Factor 2GDF2genomic medicinehereditary hemorrhagic telangiectasiamassive parallel sequencingNGSpersonalized medicinepulmonary arterial hypertension

Identifiers

PMID34831401
PMCPMC8624726
OpenAlexW3211582983

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.