Evidence map›Paper›PMID 34875719›Full record

ArticleJournal of anatomy2022

Precision mouse models of Yars/dominant intermediate Charcot-Marie-Tooth disease type C and Sptlc1/hereditary sensory and autonomic neuropathy type 1.

Timothy J Hines, Abigail L D Tadenev, Museer A Lone, Courtney L Hatton, Inseyah Bagasrawala, Morgane G Stum, Kathy E Miers, Thorsten Hornemann, Robert W Burgess

Open access · greenAbstract read
In one paragraph

Article in Journal of anatomy, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.

0numbers the graph read from it
0cells of the map it votes in
18citing papers in PubMed
1.7field-weighted citation impact, top 17% 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

18 citing papers in PubMed, 20 citations in OpenAlex.

  1. Deletion of exon 2 in ALS-linkedLife science alliance · 2026
    Article
  2. Tyrosine Supplementation Rescues a Growth Defect in a HumanizedInternational journal of molecular sciences · 2026
    Article
  3. Junctions in Jeopardy: the neuromuscular junction is a selective pathological target in Charcot-Marie-Tooth disease.Mammalian genome : official journal of the International Mammalian Genome Society · 2026
    Review
  4. Article
  5. Genetic Deletion of Sarm1 in Mouse Models of Three Neurological Diseases.Journal of the peripheral nervous system : JPNS · 2025
    Article
  6. [Expression of YARS1 in hepatocellular carcinoma and its prognostic effect].Zhonghua gan zang bing za zhi = Zhonghua ganzangbing zazhi = Chinese journal of hepatology · 2025
    Article
  7. Long Chain Base Profiling with Multiple Reaction Monitoring Mass Spectrometry.Methods in molecular biology (Clifton, N.J.) · 2025
    Article
  8. Article
  9. Article
  10. DominantBrain communications · 2024
    Article
  11. Review
  12. Review
  13. Review
  14. Sphingolipids in neurodegenerative diseases.Frontiers in neuroscience · 2023
    Review
  15. Article
  16. Review
  17. Article
  18. 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

9 authors at 2 institutions in 2 countries.

Timothy J HinesThe Jackson Laboratory, Bar Harbor, Maine, USA.
Abigail L D TadenevThe Jackson Laboratory, Bar Harbor, Maine, USA.
Museer A LoneInstitute for Clinical Chemistry, University of Zurich, Zurich, Switzerland.
Courtney L HattonThe Jackson Laboratory, Bar Harbor, Maine, USA.
Inseyah BagasrawalaThe Jackson Laboratory, Bar Harbor, Maine, USA.
Morgane G StumThe Jackson Laboratory, Bar Harbor, Maine, USA.
Kathy E MiersThe Jackson Laboratory, Bar Harbor, Maine, USA.
Thorsten HornemannInstitute for Clinical Chemistry, University of Zurich, Zurich, Switzerland.
Robert W BurgessThe Jackson Laboratory, Bar Harbor, Maine, USA.ORCID 0000-0002-9229-3407
Jackson Laboratory · USUniversity of Zurich · CH

Funding

Shared Resource ManagementP30CA034196 · NCI · JACKSON LABORATORY · PI William Carl Skarnes · 1985 to 2026
$61.9M
The Genetics of the Neuromuscular Junction: Mechanisms and Disease ModelsR37NS054154 · NINDS · JACKSON LABORATORY · PI Robert W. Burgess · 2020 to 2026
$5.9M
Exploring the Functions of tRNA Synthetases in the Nucleus and their Relationship to CMTR01NS113583 · NINDS · SCRIPPS RESEARCH INSTITUTE, THE · PI BURGESS, ROBERT W., YANG, XIANG-LEI · 2020 to 2024
$2.9M
A Resource for Mouse Models of Peripheral NeuropathyR24NS098523 · NINDS · JACKSON LABORATORY · PI BOGDANIK, LAURENT P, BURGESS, ROBERT W. · 2016 to 2019
$1.2M
European Joint Programme on Rare Diseases EJP RD+SNF 32ER30_187505NCI NIH HHS P30 CA034196NINDS NIH HHS R01 NS113583NINDS NIH HHS R24 NS098523NINDS NIH HHS R37 NS054154Swiss National Science Foundation SNF 31003A_179371
6 · The paper itself

Abstract

Animal models of neurodegenerative diseases such as inherited peripheral neuropathies sometimes accurately recreate the pathophysiology of the human disease, and sometimes accurately recreate the genetic perturbations found in patients. Ideally, models achieve both, but this is not always possible; nonetheless, such models are informative. Here we describe two animal models of inherited peripheral neuropathy: mice with a mutation in tyrosyl tRNA-synthetase, Yars

Indexed as

Charcot-Marie-Tooth DiseaseHereditary Sensory and Autonomic NeuropathiesAnimalsDisease Models, AnimalHumansLigasesMiceMutationPeripheral Nervous System DiseasesRNA, TransferSerine C-PalmitoyltransferaseLigasesRNA, TransferSerine C-PalmitoyltransferaseSPTLC1 protein, humanaxon degenerationCharcot-Marie-ToothdemyelinationHSN1inherited peripheral neuropathysphingolipid synthesisSPTLC2tRNA synthetaseYARS

Identifiers

PMID34875719
PMCPMC9170831
OpenAlexW4200325035

What OpenQuestion holds

Textmetadata
LicenceTDM
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.