Evidence map›Paper›PMID 34975292›Full record

ArticleCurrent genomics2021

Identification of Two Novel Mutations in

Masoud Heidari, Hamid Gharshasbi, Alireza Isazadeh, Morteza Soleyman-Nejad, Mohammad Hossein Taskhiri, Javad Shapouri, Manzar Bolhassani, Nahid Sadighi, Mansour Heidari

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

Article in Current genomics, 2021. 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
–field-weighted citation impact, top 98% 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, 1 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

9 authors at 5 institutions in 1 country.

Masoud HeidariDepartment of Animal Biology, Faculty of Natural Sciences, University of Tabriz, Tabriz, Iran.
Hamid GharshasbiDepartment of Genetics, Tabriz Branch Islamic Azad University, Tabriz, Iran.
Alireza IsazadehImmunology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran.
Morteza Soleyman-NejadAriagene Medical Genetics Laboratory, Qom, Iran.
Mohammad Hossein TaskhiriAriagene Medical Genetics Laboratory, Qom, Iran.
Javad ShapouriPediatric Clinical Research and Development Center, Qom University of Medical Sciences, Qom, Iran.
Manzar BolhassaniAriagene Medical Genetics Laboratory, Qom, Iran.
Nahid SadighiAdvanced Diagnostic and Interventional Radiology Research Center (ADIR), Tehran University of Medical Sciences (TUMS), Tehran, Iran.
Mansour HeidariDepartment of Medical Genetics, Tehran University of Medical Sciences (TUMS), Tehran, Iran.
University of Tabriz · IRIslamic Azad University of Tabriz · IRQom University of Medical Science and Health Services · IRTehran University of Medical Sciences · IRTabriz University of Medical Sciences · IR

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundPolycystic kidney disease (PKD) is an autosomal recessive disorder resulting from mutations in the

objectiveThe aim of the present study was to report newly identified mutations in the MATERIALS AND

methodsGenetic alterations of a 3-month-old boy and a 27-year-old girl with PKD were evaluated using whole-exome sequencing. The PCR direct sequencing was performed to analyse the co-segregation of the variants with the disease in the family. Finally, the molecular function of the identified novel mutations was evaluated by

resultsIn the 3 month-old boy, a novel homozygous frameshift mutation was detected in the

conclusionIn general, we have identified two novel mutations in the

Indexed as

disorderETFDH genemutationPKHD1 genePolycystic kidney diseasewhole-exome sequencing

Identifiers

PMID34975292
PMCPMC8640847
OpenAlexW3130902459

What OpenQuestion holds

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LicenceCC BY-NC
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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.