Evidence map›Paper›PMID 36307205›Full record

ArticleCold Spring Harbor molecular case studies2022

A missense, loss-of-function

Megan E Forrest, Alayne P Meyer, Stephanie M Laureano Figueroa, Anthony Antonellis

Open access · diamondAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Cold Spring Harbor molecular case studies, 2022. 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
–field-weighted citation impact
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, 3 citations in OpenAlex.

  1. Article
  2. 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

4 authors at 2 institutions in 1 country.

Megan E Forrest *Department of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA.ORCID 0000-0003-1126-2738
Alayne P Meyer *Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio 43205, USA.ORCID 0000-0003-3072-0212
Stephanie M Laureano FigueroaMedical Scientist Training Program, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA.
Anthony AntonellisDepartment of Human Genetics, University of Michigan Medical School, Ann Arbor, Michigan 48109, USA.ORCID 0000-0002-5820-3156
University of Michigan · USNationwide Children's Hospital · US

Funding

MICHIGAN MEDICAL SCIENTIST TRAINING PROGRAMT32GM007863 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI COLLINS, KATHLEEN L. · 1985 to 2024
$38.3M
TRAINING IN CLINICAL AND BASIC NEUROSCIENCET32NS007222 · NINDS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Henry L Paulson · 1985 to 2026
$8.0M
Defining the Role of Aminoacyl-tRNA Synthetases in Human Health and DiseaseR35GM136441 · NIGMS · UNIVERSITY OF MICHIGAN AT ANN ARBOR · PI Anthony Antonellis · 2020 to 2026
$2.8M
NIGMS NIH HHS R35 GM136441NIGMS NIH HHS T32 GM007863NINDS NIH HHS T32 NS007222
6 · The paper itself

Abstract

Aminoacyl-tRNA synthetases (ARSs) are essential enzymes with a critical role in protein synthesis: charging tRNA molecules with cognate amino acids. Heterozygosity for variants in five genes (

Indexed as

Amino Acyl-tRNA SynthetasesCharcot-Marie-Tooth DiseaseHeterozygoteHumansMutationMutation, MissenseSaccharomyces cerevisiaeAmino Acyl-tRNA Synthetasesareflexia of upper limbsgeneralized limb muscle atrophylower limb muscle weaknessupper limb muscle weakness

Identifiers

PMID36307205
PMCPMC9808560
OpenAlexW4307582508

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC
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.