Evidence map›Paper›PMID 38473107›Full record

ArticleAnimals : an open access journal from MDPI2024

Variants in

G Diane Shelton, James R Mickelson, Steven G Friedenberg, Jonah N Cullen, Karina Graham, Missy C Carpentier, Ling T Guo, Katie M Minor

Open access · goldAbstract read
PubMed Full text at PMC Publisher
In one paragraph

Article in Animals : an open access journal from MDPI, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.

0numbers the graph read from it
0cells of the map it votes in
2citing papers in PubMed
0.5field-weighted citation impact, top 38% 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

2 citing papers in PubMed, 2 citations in OpenAlex.

  1. Myotonia Congenita in Australian Merino Sheep with a Missense Variant inAnimals : an open access journal from MDPI · 2024
    Article
  2. Case report: AFrontiers in veterinary science · 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

8 authors at 2 institutions in 1 country.

G Diane SheltonDepartment of Pathology, School of Medicine, University of California San Diego, La Jolla, CA 92093, USA.ORCID 0000-0002-3332-1359
James R MickelsonDepartment of Veterinary and Biomedical Sciences, College of Veterinary Medicine, University of Minnesota, Saint Paul, MN 55108, USA.ORCID 0000-0001-6951-0234
Steven G FriedenbergDepartment of Veterinary Clinical Sciences, College of Veterinary Medicine, University of Minnesota, Saint Paul, MN 55108, USA.ORCID 0000-0002-7510-2322
Jonah N CullenDepartment of Veterinary Clinical Sciences, College of Veterinary Medicine, University of Minnesota, Saint Paul, MN 55108, USA.
Karina GrahamVeterinary Specialists of Sydney, Sydney, NSW 2228, Australia.
Missy C CarpentierAnimal Emergency & Referral Center of Minnesota, Oakdale, MN 55128, USA.
Ling T GuoDepartment of Pathology, School of Medicine, University of California San Diego, La Jolla, CA 92093, USA.
Katie M MinorDepartment of Veterinary Clinical Sciences, College of Veterinary Medicine, University of Minnesota, Saint Paul, MN 55108, USA.ORCID 0000-0002-5472-5088
University of Minnesota · USUniversity of California San Diego · US

Funding

Immunological Basis of Autoimmune Addison's Disease in a Novel Canine Model SystemK01OD027058 · OD · UNIVERSITY OF MINNESOTA · PI FRIEDENBERG, STEVEN GENE · 2019 to 2023
$724k
NIH HHS K01 OD027058
6 · The paper itself

Abstract

(1) Background: Muscle hypertrophy, swallowing disorders, and gait abnormalities are clinical signs common to many muscle diseases, including muscular dystrophies, non-dystrophic myotonias, genetic myopathies associated with deficiency of myostatin, and acquired inflammatory myopathies. Here, we investigated underlying causes of this triad of clinical signs in four young French bulldogs via muscle histopathology coupled with whole genome and Sanger sequencing. (2) Methods: Dogs were evaluated by veterinary clinical internists and neurologists, and biopsies were obtained for histopathological diagnosis. DNA was submitted for whole genome sequencing, followed by bioinformatics evaluation and confirmation of variants via Sanger sequencing in two cases. (3) Results: Two novel variants were identified. The first, found in two related French bulldogs, was a homozygous variant in the chloride channel gene

Indexed as

dogmyopathynon-dystrophic myotoniaSanger sequencingwhole genome sequencing

Identifiers

PMID38473107
PMCPMC10931052
OpenAlexW4392166774

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.