Evidence map›Paper›PMID 34934811›Full record

ArticleNeurology. Genetics2022

Yukako Nishimori, Aritoshi Iida, Masashi Ogasawara, Mariko Okubo, Yuki Yonenobu, Makoto Kinoshita, Kazuma Sugie, Satoru Noguchi, Ichizo Nishino

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

Article in Neurology. Genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 3 papers.

0numbers the graph read from it
0cells of the map it votes in
3citing papers in PubMed
0.4field-weighted citation impact, top 36% 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

3 citing papers in PubMed, 5 citations in OpenAlex.

  1. Review
  2. The EmergingHuman mutation · 2025
    Article
  3. Review
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 1 institution in 1 country.

Yukako NishimoriDepartment of Neuromuscular Research (Y.N., M.O., M.O., S.N., I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan; Department of Clinical Genome Analysis, Medical Genome Center, NCNP, Tokyo, Japan (Y.N., A.I., I.N.); Department of Neurology (Y.N., K.S.), Nara Medical University, Nara, Japan; Department of Neurology (Y.Y., M.K.), Osaka University Graduate School of Medicine, Osaka, Japan.
Aritoshi IidaDepartment of Neuromuscular Research (Y.N., M.O., M.O., S.N., I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan; Department of Clinical Genome Analysis, Medical Genome Center, NCNP, Tokyo, Japan (Y.N., A.I., I.N.); Department of Neurology (Y.N., K.S.), Nara Medical University, Nara, Japan; Department of Neurology (Y.Y., M.K.), Osaka University Graduate School of Medicine, Osaka, Japan.ORCID 0000-0001-7538-1651
Masashi OgasawaraDepartment of Neuromuscular Research (Y.N., M.O., M.O., S.N., I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan; Department of Clinical Genome Analysis, Medical Genome Center, NCNP, Tokyo, Japan (Y.N., A.I., I.N.); Department of Neurology (Y.N., K.S.), Nara Medical University, Nara, Japan; Department of Neurology (Y.Y., M.K.), Osaka University Graduate School of Medicine, Osaka, Japan.
Mariko OkuboDepartment of Neuromuscular Research (Y.N., M.O., M.O., S.N., I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan; Department of Clinical Genome Analysis, Medical Genome Center, NCNP, Tokyo, Japan (Y.N., A.I., I.N.); Department of Neurology (Y.N., K.S.), Nara Medical University, Nara, Japan; Department of Neurology (Y.Y., M.K.), Osaka University Graduate School of Medicine, Osaka, Japan.
Yuki YonenobuDepartment of Neuromuscular Research (Y.N., M.O., M.O., S.N., I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan; Department of Clinical Genome Analysis, Medical Genome Center, NCNP, Tokyo, Japan (Y.N., A.I., I.N.); Department of Neurology (Y.N., K.S.), Nara Medical University, Nara, Japan; Department of Neurology (Y.Y., M.K.), Osaka University Graduate School of Medicine, Osaka, Japan.
Makoto KinoshitaDepartment of Neuromuscular Research (Y.N., M.O., M.O., S.N., I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan; Department of Clinical Genome Analysis, Medical Genome Center, NCNP, Tokyo, Japan (Y.N., A.I., I.N.); Department of Neurology (Y.N., K.S.), Nara Medical University, Nara, Japan; Department of Neurology (Y.Y., M.K.), Osaka University Graduate School of Medicine, Osaka, Japan.
Kazuma SugieDepartment of Neuromuscular Research (Y.N., M.O., M.O., S.N., I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan; Department of Clinical Genome Analysis, Medical Genome Center, NCNP, Tokyo, Japan (Y.N., A.I., I.N.); Department of Neurology (Y.N., K.S.), Nara Medical University, Nara, Japan; Department of Neurology (Y.Y., M.K.), Osaka University Graduate School of Medicine, Osaka, Japan.ORCID 0000-0003-0148-4687
Satoru NoguchiDepartment of Neuromuscular Research (Y.N., M.O., M.O., S.N., I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan; Department of Clinical Genome Analysis, Medical Genome Center, NCNP, Tokyo, Japan (Y.N., A.I., I.N.); Department of Neurology (Y.N., K.S.), Nara Medical University, Nara, Japan; Department of Neurology (Y.Y., M.K.), Osaka University Graduate School of Medicine, Osaka, Japan.ORCID 0000-0001-6165-3716
Ichizo NishinoDepartment of Neuromuscular Research (Y.N., M.O., M.O., S.N., I.N.), National Institute of Neuroscience, National Center of Neurology and Psychiatry (NCNP), Tokyo, Japan; Department of Clinical Genome Analysis, Medical Genome Center, NCNP, Tokyo, Japan (Y.N., A.I., I.N.); Department of Neurology (Y.N., K.S.), Nara Medical University, Nara, Japan; Department of Neurology (Y.Y., M.K.), Osaka University Graduate School of Medicine, Osaka, Japan.ORCID 0000-0001-9452-112X
National Center of Neurology and Psychiatry · JP

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectivesThe main objective of this case report is to identify a gene associated with a Japanese family with autosomal dominant arthrogryposis.

methodsWe performed clinicopathologic diagnosis and genomic analysis using trio-based exome sequencing.

resultsA 14-year-old boy had contractures in the proximal joints, and the serum creatine kinase level was elevated. Muscle biopsy demonstrated a moth-eaten appearance in some type 1 fibers, and electron microscopic analysis revealed that type 1 fibers had Z disk streaming. We identified a heterozygous nonsense variant, c.523A>T (p.K175*), in DISCUSSION: The altered amino acid residue is within the tropomyosin-binding site near the C-terminus, in a region homologous to the variational hotspot of Troponin I2 (TNNI2), which is associated with distal arthrogryposis type 1 and 2b. Compared with patients with

Identifiers

PMID34934811
PMCPMC8682965
OpenAlexW4200255330

What OpenQuestion holds

Textmetadata
LicenceCC BY-NC-ND
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.