Evidence map›Paper›PMID 28401079›Full record

ArticleAdvanced biomedical research2017

Mutation in δ-Sg Gene in Familial Dilated Cardiomyopathy.

Marzieh Asadi, Roger Foo, Ahmad Reza Salehi, Rasoul Salehi, Mohammad Reza Samienasab

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

Article in Advanced biomedical research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
0.2field-weighted citation impact, top 35% 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

1 citing paper in PubMed, 4 citations in OpenAlex.

  1. 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 3 institutions in 2 countries.

Marzieh AsadiEndocrinology and Metabolism Research Center, School of Medicine, Arak University of Medical Sciences, Arak, Iran.
Roger FooCardiovascular Research Institute, Genome Institute of Singapore, Singapore.
Ahmad Reza SalehiDepartment of Genetic and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran; Gerfa Namayesh Azmayesh (GENAZMA) Research Institute, Isfahan, Iran.
Rasoul SalehiDepartment of Genetic and Molecular Biology, School of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran; Gerfa Namayesh Azmayesh (GENAZMA) Research Institute, Isfahan, Iran.
Mohammad Reza SamienasabDepartment of Cardiovascular Disease, School of Medicine, Isfahan University of Medical Science, Isfahan, Iran.
Isfahan University of Medical Sciences · IRArak University of Medical Sciences · IRUniversity of Isfahan · IR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundMutations in different genes including dystrophin-associated glycoprotein complex caused familial dilated cardiomyopathy which is a genetically heterogeneous disease. The δ-SG gene contains nine exons spanning a 433-kb region of genomic DNA. It encodes a 35-kDa, singlepass, and type II transmembrane glycoprotein. MATERIALS AND

methodsIn this study for the first time in Iran we screened 6 patients of a large family that they had positive family history of MI or sudden death by next generation sequencing method.

resultsBy employing NGS method we found missense mutation (p.R97Q) of δ-SG gene in 2 of 6 patients.

conclusionsThe missense mutation (p.R97Q) in familial DCM patients is reported for the first time in Iranian patients with cardiac disease. Although this mutation is already known in other populations in Iran, it is not reported before.

Indexed as

Familial dilated cardiomyopathygenetic analysisnext generation sequencingδ-SG gene

Identifiers

PMID28401079
PMCPMC5360008
OpenAlexW2514971458

What OpenQuestion holds

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Registered trials

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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.