Evidence map›Paper›PMID 33926013›Full record

ArticleGenes2021

A Nonsense Variant in Hephaestin Like 1 (

Thibaud Kuca, Brandy M Marron, Joana G P Jacinto, Julia M Paris, Christian Gerspach, Jonathan E Beever, Cord Drögemüller

Open access · goldAbstract read
PubMed Full text at PMC Publisher
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 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
0.4field-weighted citation impact, top 41% 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, 6 citations in OpenAlex.

  1. Review
  2. The biology of mammalian multi-copper ferroxidases.Biometals : an international journal on the role of metal ions in biology, biochemistry, and medicine · 2023
    Review
  3. AGenes · 2021
    Article
  4. 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 at 3 institutions in 3 countries.

Thibaud KucaDepartment of Farm Animals, Vetsuisse-Faculty, University of Zurich, 8057 Zurich, Switzerland.ORCID 0000-0003-4339-3409
Brandy M MarronLaboratory of Molecular Genetics, Department of Animal Sciences, University of Illinois at Urbana-Champaign, Urbana, IL 61801, USA.
Joana G P JacintoDepartment of Veterinary Medical Sciences, University of Bologna, 40064 Ozzano Emilia, Italy.ORCID 0000-0002-6438-7975
Julia M ParisInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3012 Bern, Switzerland.
Christian GerspachDepartment of Farm Animals, Vetsuisse-Faculty, University of Zurich, 8057 Zurich, Switzerland.
Jonathan E BeeverLaboratory of Molecular Genetics, Department of Animal Sciences, University of Illinois at Urbana-Champaign, Urbana, IL 61801, USA.ORCID 0000-0001-6156-0632
Cord DrögemüllerInstitute of Genetics, Vetsuisse Faculty, University of Bern, 3012 Bern, Switzerland.ORCID 0000-0001-9773-522X
University of Bern · CHUniversity of Illinois Urbana-Champaign · USUniversity of Zurich · CH

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Genodermatosis such as hair disorders mostly follow a monogenic mode of inheritance. Congenital hypotrichosis (HY) belong to this group of disorders and is characterized by abnormally reduced hair since birth. The purpose of this study was to characterize the clinical phenotype of a breed-specific non-syndromic form of HY in Belted Galloway cattle and to identify the causative genetic variant for this recessive disorder. An affected calf born in Switzerland presented with multiple small to large areas of alopecia on the limbs and on the dorsal part of the head, neck, and back. A genome-wide association study using Swiss and US Belted Galloway cattle encompassing 12 cases and 61 controls revealed an association signal on chromosome 29. Homozygosity mapping in a subset of cases refined the HY locus to a 1.5 Mb critical interval and subsequent Sanger sequencing of protein-coding exons of positional candidate genes revealed a stop gain variant in the

Indexed as

AnimalsCattleCattle DiseasesChromosomesCodon, NonsenseHairHomozygoteHypotrichosisLoss of Function MutationOxidoreductasesCodon, NonsenseOxidoreductasesBos taurusdermatologydevelopmentgenodermatosishairhypotrichosis simplexmonogenic

Identifiers

PMID33926013
PMCPMC8147104
OpenAlexW3159011573

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.