Evidence map›Paper›PMID 33755251›Full record

ArticleJournal of veterinary internal medicine2021

A novel missense mutation of the NAT10 gene in a juvenile Schnauzer dog with chronic respiratory tract infections.

Barry A Hedgespeth, Adam J Birkenheuer, Steven G Friedenberg, Natasha J Olby, Kathryn M Meurs

Open access · goldAbstract readCase Reports
In one paragraph

Article in Journal of veterinary internal medicine, 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
0.2field-weighted citation impact, top 48% 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, 3 citations in OpenAlex.

  1. Article
  2. Article
  3. Review
  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

5 authors at 2 institutions in 1 country.

Barry A HedgespethDepartment of Clinical Sciences, North Carolina State University, Raleigh, North Carolina, USA.ORCID https://orcid.org/0000-0002-0399-7163
Adam J BirkenheuerDepartment of Clinical Sciences, North Carolina State University, Raleigh, North Carolina, USA.ORCID https://orcid.org/0000-0002-2617-2252
Steven G FriedenbergDepartment of Veterinary Clinical Sciences, University of Minnesota, Saint Paul, Minnesota, USA.ORCID https://orcid.org/0000-0002-7510-2322
Natasha J OlbyDepartment of Clinical Sciences, North Carolina State University, Raleigh, North Carolina, USA.ORCID https://orcid.org/0000-0003-1349-3484
Kathryn M MeursDepartment of Clinical Sciences, North Carolina State University, Raleigh, North Carolina, USA.
North Carolina State University · USUniversity of Minnesota · US

Funding

Comparative Medicine and Translational Research Training ProgramT32OD011130 · OD · NORTH CAROLINA STATE UNIVERSITY RALEIGH · PI Lauren Virginia Schnabel · 2012 to 2026
$7.8M
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 OD027058NIH HHS T32 OD011130
6 · The paper itself

Abstract

An 18-month-old intact male Schnauzer dog was evaluated for chronic, lifelong respiratory tract infections that were unresponsive to administration of a variety of antibiotics and corticosteroids. The dog developed persistent vomiting and diarrhea around 1 year of age that was minimally responsive to diet change, antibiotics, and corticosteroids. Despite supportive care, the dog was ultimately euthanized at 20 months of age due to persistent respiratory and gastrointestinal disease. Whole genome sequencing discovered a deleterious missense A/C mutation within the NAT10 gene, a gene essential for microtubule acetylation, appropriate ciliary development, and cytokinesis. Pipeline analysis of the genomes of 579 dogs from 55 breeds did not detect this mutation. Though never described in veterinary medicine, NAT10 mutation occurs in humans with ciliary aplasia, suggesting a pathophysiological mechanism for this dog and highlighting an associated mutation or possible novel genetic cause of chronic respiratory infections in dogs.

Indexed as

Dog DiseasesRespiratory Tract InfectionsAnimalsDogsMaleMutationMutation, MissenseWhole Genome Sequencingciliary dysplasiacongenitalgeneticsmicrotubulepneumoniawhole genome sequencing

Identifiers

PMID33755251
PMCPMC8162599
OpenAlexW3136100671

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.