Evidence map›Paper›PMID 35052387›Full record

ArticleGenes2021

A Nonsense Variant in

Maxime Ben Braiek, Carole Moreno-Romieux, Charlotte Allain, Philippe Bardou, Arnaud Bordes, Frédéric Debat, Cord Drögemüller, Florence Plisson-Petit, David Portes, Julien Sarry and 3 more

Open access · goldAbstract read
In one paragraph

Article in Genes, 2021. 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
7.5field-weighted citation impact, top 2% 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

3 citing papers in PubMed, 29 citations in OpenAlex.

  1. Article
  2. Article
  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

13 authors at 3 institutions in 2 countries.

Maxime Ben BraiekGenPhySE, Université de Toulouse, Institut National de Recherche Pour L'agriculture, L'alimentation et l'environnement (INRAE), Ecole Nationale Vétérinaire de Toulouse (ENVT), 31326 Castanet-Tolosan, France.
Carole Moreno-RomieuxGenPhySE, Université de Toulouse, Institut National de Recherche Pour L'agriculture, L'alimentation et l'environnement (INRAE), Ecole Nationale Vétérinaire de Toulouse (ENVT), 31326 Castanet-Tolosan, France.
Charlotte AllainUE Domaine de La Fage, Institut National de Recherche Pour L'agriculture, L'alimentation et L'environnement (INRAE), 12250 Saint-Jean et Saint-Paul, France.
Philippe BardouSigenae, Institut National de Recherche Pour L'agriculture, L'alimentation et L'environnement (INRAE), 31326 Castanet-Tolosan, France.
Arnaud BordesGenPhySE, Université de Toulouse, Institut National de Recherche Pour L'agriculture, L'alimentation et l'environnement (INRAE), Ecole Nationale Vétérinaire de Toulouse (ENVT), 31326 Castanet-Tolosan, France.
Frédéric DebatGenPhySE, Université de Toulouse, Institut National de Recherche Pour L'agriculture, L'alimentation et l'environnement (INRAE), Ecole Nationale Vétérinaire de Toulouse (ENVT), 31326 Castanet-Tolosan, France.
Cord DrögemüllerInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3012 Bern, Switzerland.ORCID 0000-0001-9773-522X
Florence Plisson-PetitGenPhySE, Université de Toulouse, Institut National de Recherche Pour L'agriculture, L'alimentation et l'environnement (INRAE), Ecole Nationale Vétérinaire de Toulouse (ENVT), 31326 Castanet-Tolosan, France.
David PortesUE Domaine de La Fage, Institut National de Recherche Pour L'agriculture, L'alimentation et L'environnement (INRAE), 12250 Saint-Jean et Saint-Paul, France.
Julien SarryGenPhySE, Université de Toulouse, Institut National de Recherche Pour L'agriculture, L'alimentation et l'environnement (INRAE), Ecole Nationale Vétérinaire de Toulouse (ENVT), 31326 Castanet-Tolosan, France.
Némuel TadiGenPhySE, Université de Toulouse, Institut National de Recherche Pour L'agriculture, L'alimentation et l'environnement (INRAE), Ecole Nationale Vétérinaire de Toulouse (ENVT), 31326 Castanet-Tolosan, France.
Florent WoloszynGenPhySE, Université de Toulouse, Institut National de Recherche Pour L'agriculture, L'alimentation et l'environnement (INRAE), Ecole Nationale Vétérinaire de Toulouse (ENVT), 31326 Castanet-Tolosan, France.
Stéphane FabreGenPhySE, Université de Toulouse, Institut National de Recherche Pour L'agriculture, L'alimentation et l'environnement (INRAE), Ecole Nationale Vétérinaire de Toulouse (ENVT), 31326 Castanet-Tolosan, France.ORCID 0000-0001-7350-9500
École Nationale Vétérinaire de Toulouse · FRInstitut National de Recherche pour l'Agriculture, l'Alimentation et l'Environnement · FRUniversity of Bern · CH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

We recently demonstrated that the Lacaune deficient homozygous haplotype 6 (LDHH6) potentially hosts a recessive perinatal lethal mutation in Lacaune dairy sheep mapped on OAR3. In the present study, we have analyzed the whole-genome sequences of two Lacaune ram heterozygous carriers of LDHH6. After variant calling and filtering against the variants of 86 non-carrier rams, we have identified a single nucleotide variant (SNV) in the two LDHH6 carriers whose variant allele induced a premature stop codon (p.Glu111*) in the

Indexed as

Codon, NonsenseHaplotypesPhenotypeAnimalsFemaleGlycoproteinsMaleRespiratory InsufficiencySheepCodon, NonsenseGlycoproteinsCCDC65ciliopathydevelopmentgenetic disorderhomozygous haplotype deficiencyjuvenile lethal mutationLDHH6primary cilia dyskinesia (PCD)sheep

Identifiers

PMID35052387
PMCPMC8774411
OpenAlexW4200609958

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.