Evidence map›Paper›PMID 36140829›Full record

ArticleGenes2022

Clustering of Genetic Anomalies of Cilia Outer Dynein Arm and Central Apparatus in Patients with Transposition of the Great Arteries.

Marlon De Ita, Javier Gaytán-Cervantes, Bulmaro Cisneros, María Antonieta Araujo, Juan Carlos Huicochea-Montiel, Alan Cárdenas-Conejo, Charles César Lazo-Cárdenas, César Iván Ramírez-Portillo, Carina Feria-Kaiser, Leoncio Peregrino-Bejarano and 3 more

Open access · goldAbstract read
In one paragraph

Article in Genes, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.9field-weighted citation impact, top 22% 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

4 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. SomaticExperimental and therapeutic medicine · 2024
    Article
  3. Discovery ofAmerican journal of translational research · 2024
    Article
  4. Discovery and functional investigation ofAmerican journal of translational research · 2024
    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

13 authors at 3 institutions in 1 country.

Marlon De ItaUnidad de Investigación Médica en Genética Humana, UMAE Hospital de Pediatría, Centro Médico Nacional Siglo XXI, IMSS, Ciudad de México 06720, Mexico.ORCID 0000-0002-8305-4279
Javier Gaytán-CervantesLaboratorio de Secuenciación, División de Desarrollo de la Investigación, IMSS, Ciudad de México 06720, Mexico.
Bulmaro CisnerosDpto de Genética y Biología Molecular, CINVESTAV Zacatenco IPN, Ciudad de México 07360, Mexico.
María Antonieta AraujoDepartamento clínico de Genética Médica, UMAE Hospital de Pediatría, Centro Médico Nacional Siglo XXI, IMSS, Ciudad de México 06720, Mexico.
Juan Carlos Huicochea-MontielDepartamento clínico de Genética Médica, UMAE Hospital de Pediatría, Centro Médico Nacional Siglo XXI, IMSS, Ciudad de México 06720, Mexico.
Alan Cárdenas-ConejoDepartamento clínico de Genética Médica, UMAE Hospital de Pediatría, Centro Médico Nacional Siglo XXI, IMSS, Ciudad de México 06720, Mexico.
Charles César Lazo-CárdenasDepartamento clínico de Cardiología, UMAE Hospital de Pediatría, Centro Médico Nacional Siglo XXI, IMSS, Ciudad de México 06720, Mexico.
César Iván Ramírez-PortilloDepartamento clínico de Cardiología, UMAE Hospital de Pediatría, Centro Médico Nacional Siglo XXI, IMSS, Ciudad de México 06720, Mexico.
Carina Feria-KaiserUnidad de Cuidados Intensivos Neonatales, UMAE Hospital de Pediatría, Centro Médico Nacional Siglo XXI, IMSS, Ciudad de México 06720, Mexico.
Leoncio Peregrino-BejaranoUMAE Hospital de Pediatría, Centro Médico Nacional Siglo XXI, IMSS, Ciudad de México 06720, Mexico.
Lucelli Yáñez-GutiérrezClínica de Cardiopatías Congénitas, UMAE Hospital de Cardiología, CMN Siglo XXI, Ciudad de México 06720, Mexico.
Carolina González-TorresLaboratorio de Secuenciación, División de Desarrollo de la Investigación, IMSS, Ciudad de México 06720, Mexico.
Haydeé Rosas-VargasUnidad de Investigación Médica en Genética Humana, UMAE Hospital de Pediatría, Centro Médico Nacional Siglo XXI, IMSS, Ciudad de México 06720, Mexico.ORCID 0000-0003-0635-8284
Centro Medico Nacional Siglo XXI · MXMexican Social Security Institute · MXCentro de Investigación y de Estudios Avanzados del Instituto Politécnico Nacional · MX

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Transposition of the great arteries (TGA) is a congenital heart defect with a complex pathogenesis that has not been fully elucidated. In this study, we performed whole-exome sequencing (WES) in isolated TGA-diagnosed patients and analyzed genes of motile and non-motile cilia ciliogenesis and ciliary trafficking, as well as genes previously associated with this heart malformation. Deleterious missense and splicing variants of genes

Indexed as

CiliaTransposition of Great VesselsArteriesAxonemal DyneinsCluster AnalysisExome SequencingHumansAxonemal DyneinsDNAH9 protein, humanciliadyneingenetic counselingtransposition of great arterieswhole-exome sequencing

Identifiers

PMID36140829
PMCPMC9498580
OpenAlexW4296354610

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.