Evidence map›Paper›PMID 34825065›Full record

ArticleOpen medicine (Warsaw, Poland)2021

Dissecting role of founder mutation p.V727M in GNE in Indian HIBM cohort.

Shivangi Attri, Vikas Sharma, Amit Kumar, Chaitenya Verma, Suresh Kumar Gahlawat

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

Article in Open medicine (Warsaw, Poland), 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
1.4field-weighted citation impact, top 19% 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, 9 citations in OpenAlex.

  1. Article
  2. The frequent variant A57F in theFrontiers in genetics · 2024
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  3. Article
  4. Generation and characterization of a novelFrontiers in cell and developmental biology · 2022
    Article
  5. 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

5 authors at 4 institutions in 2 countries.

Shivangi AttriDepartment of Biotechnology, Chaudhary Devi Lal University, Sirsa, 440002, India.
Vikas SharmaGeneral Facility, Centralized Core Research Facility, All India Institute of Medical Sciences, New Delhi, 110029, India.
Amit KumarICMR-AIIMS Computational Genomics Centre, Division of Biomedical Informatics, Indian Council of Medical Research, New Delhi, 110029, India.
Chaitenya VermaDepartment of Pathology, Wexner Medical Center, The Ohio State University, OH-43210, Ohio, United States of America.
Suresh Kumar GahlawatDepartment of Biotechnology, Chaudhary Devi Lal University, Sirsa, Haryana, 125055, India.
Chaudhary Devi Lal University · INAll India Institute of Medical Sciences · INIndian Council of Medical Research · INThe Ohio State University Wexner Medical Center · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

GNE gene-specific c.2179G>A(p.V727M) is a key alteration reported in patients with hereditary inclusion body myopathy (HIBM) and represents an ethnic founder mutation in the Indian cohort. However, the underlying role of this mutation in pathogenesis remains largely unknown. Thus, in this study, we aimed to access possible mechanisms of V727M mutation that could be leading to myopathy. We evaluated various

Indexed as

founder mutationsGNEHIBMmyopathysimulation

Identifiers

PMID34825065
PMCPMC8593392
OpenAlexW3211832596

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.