Evidence map›Paper›PMID 34830323›Full record

ArticleInternational journal of molecular sciences2021

Irene M Häfliger, Emma Marchionatti, Michele Stengård, Sonja Wolf-Hofstetter, Julia M Paris, Joana G P Jacinto, Christine Watté, Katrin Voelter, Laurence M Occelli, András M Komáromy and 7 more

Open access · goldAbstract read
In one paragraph

Article in International journal of molecular sciences, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.

0numbers the graph read from it
0cells of the map it votes in
5citing papers in PubMed
0.4field-weighted citation impact, top 40% 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

5 citing papers in PubMed, 8 citations in OpenAlex.

  1. Review
  2. Article
  3. A recessiveJournal of veterinary diagnostic investigation : official publication of the American Association of Veterinary Laboratory Diagnosticians, Inc · 2024
    Article
  4. Article
  5. 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

17 authors at 5 institutions in 3 countries.

Irene M HäfligerInstitute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001 Bern, Switzerland.ORCID 0000-0002-5648-963X
Emma MarchionattiClinic for Ruminants, Department of Clinical Veterinary Medicine, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001 Bern, Switzerland.ORCID 0000-0002-9113-5829
Michele StengårdDivision of Ophthalmology, Department of Clinical Veterinary Medicine, Vetsuisse Faculty, University of Bern, Länggassstrasse 128, 3001 Bern, Switzerland.
Sonja Wolf-HofstetterInstitute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001 Bern, Switzerland.
Julia M ParisInstitute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001 Bern, Switzerland.
Joana G P JacintoDepartment of Veterinary Medical Sciences, University of Bologna, 50 Ozzano Emilia, 40064 Bologna, Italy.ORCID 0000-0002-6438-7975
Christine WattéDivision of Ophthalmology, Department of Clinical Veterinary Medicine, Vetsuisse Faculty, University of Bern, Länggassstrasse 128, 3001 Bern, Switzerland.
Katrin VoelterOphthalmology Section, Vetsuisse Faculty, University of Zurich, Winterthurerstrasse 260, 8057 Zurich, Switzerland.ORCID 0000-0002-6349-6782
Laurence M OccelliCollege of Veterinary Medicine, Michigan State University, 736 Wilson Rd., East Lansing, MI 48824, USA.ORCID 0000-0002-1568-4527
András M KomáromyCollege of Veterinary Medicine, Michigan State University, 736 Wilson Rd., East Lansing, MI 48824, USA.
Anna OevermannDivision of Neurological Sciences, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001 Bern, Switzerland.ORCID 0000-0002-3569-8547
Christine GoepfertCOMPATH, Institute of Animal Pathology, Vetsuisse Faculty, University of Bern, Länggassstrasse 122, 3001 Bern, Switzerland.
Angelica BorgoDepartment of Ophthalmology, University of Lausanne, Jules-Gonin Eye Hospital, Av. de France 15, 1004 Lausanne, Switzerland.
Raphaël RoduitDepartment of Ophthalmology, University of Lausanne, Jules-Gonin Eye Hospital, Av. de France 15, 1004 Lausanne, Switzerland.ORCID 0000-0001-7440-2799
Mirjam SpengelerQualitas AG, Chamerstrasse 56, 6300 Zug, Switzerland.
Franz R SeefriedQualitas AG, Chamerstrasse 56, 6300 Zug, Switzerland.ORCID 0000-0003-4396-2747
Cord DrögemüllerInstitute of Genetics, Vetsuisse Faculty, University of Bern, Bremgartenstrasse 109a, 3001 Bern, Switzerland.ORCID 0000-0001-9773-522X
University of Bern · CHMichigan State University · USUniversity of Lausanne · CHUniversity of Bologna · ITUniversity of Zurich · CH

Funding

Swiss National Science Foundation 31003A_172911
6 · The paper itself

Abstract

Sporadic occurrence of inherited eye disorders has been reported in cattle but so far pathogenic variants were found only for rare forms of cataract but not for retinopathies. The aim of this study was to characterize the phenotype and the genetic aetiology of a recessive form of congenital day-blindness observed in several cases of purebred Original Braunvieh cattle. Electroretinography in an affected calf revealed absent cone-mediated function, whereas the rods continue to function normally. Brain areas involved in vision were morphologically normal. When targeting cones by immunofluorescence, a decrease in cone number and an accumulation of beta subunits of cone cyclic-nucleotide gated channel (CNGB3) in the outer plexiform layer of affected animals was obvious. Achromatopsia is a monogenic Mendelian disease characterized by the loss of cone photoreceptor function resulting in day-blindness, total color-blindness, and decreased central visual acuity. After SNP genotyping and subsequent homozygosity mapping with twelve affected cattle, we performed whole-genome sequencing and variant calling of three cases. We identified a single missense variant in the bovine

Indexed as

AllelesMutation, MissenseAmino Acid SubstitutionAnimalsAsparagineAspartic AcidCattleColor Vision DefectsCyclic Nucleotide-Gated Cation ChannelsElectroretinographyFemaleGene ExpressionGene FrequencyHomozygoteMalePhenotypeAsparagineAspartic AcidCyclic Nucleotide-Gated Cation ChannelsProtein Subunitsanimal modelBos taurusday-blindnessdevelopmentmendelian geneticsprecision medicinerare diseaseretina

Identifiers

PMID34830323
PMCPMC8620519
OpenAlexW3213007077

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.