Evidence map›Paper›PMID 29527510›Full record

ArticleWorld journal of nephrology2018

Genetic defects in ciliary genes in autosomal dominant polycystic kidney disease.

Katarína Skalická, Gabriela Hrčková, Anita Vaská, Ágnes Baranyaiová, László Kovács

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PubMed Full text at PMC Publisher
In one paragraph

Article in World journal of nephrology, 2018. 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
0.5field-weighted citation impact, top 28% 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, 13 citations in OpenAlex.

  1. Article
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  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

5 authors at 2 institutions in 2 countries.

Katarína SkalickáLaboratory of Clinical and Molecular Genetics, Department of Paediatrics, Faculty of Medicine, Comenius University and University Children's Hospital, Bratislava 83340, Slovakia.
Gabriela HrčkováLaboratory of Clinical and Molecular Genetics, Department of Paediatrics, Faculty of Medicine, Comenius University and University Children's Hospital, Bratislava 83340, Slovakia.
Anita VaskáLaboratory of Clinical and Molecular Genetics, Department of Paediatrics, Faculty of Medicine, Comenius University and University Children's Hospital, Bratislava 83340, Slovakia.
Ágnes BaranyaiováLaboratory of Clinical and Molecular Genetics, Department of Paediatrics, Faculty of Medicine, Comenius University and University Children's Hospital, Bratislava 83340, Slovakia.
László KovácsLaboratory of Clinical and Molecular Genetics, Department of Paediatrics, Faculty of Medicine, Comenius University and University Children's Hospital, Bratislava 83340, Slovakia.
Comenius University Bratislava · SKCreative Research Enterprises (United States) · US

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

aimTo evaluate the genetic defects of ciliary genes causing the loss of primary cilium in autosomal dominant polycystic kidney disease (ADPKD).

methodsWe analyzed 191 structural and functional genes of the primary cilium using next-generation sequencing analysis. We analyzed the kidney samples, which were obtained from 7 patients with ADPKD who underwent nephrectomy. Each sample contained polycystic kidney tissue and matched normal kidney tissue.

resultsIn our study, we identified genetic defects in the 5 to 15 genes in each ADPKD sample. The most frequently identified defects were found in genes encoding centrosomal proteins (

conclusionThe results of our study revealed the actual state of structural ciliary genes in human ADPKD tissues and provided valuable indications for further research.

Indexed as

Ciliary genesGenetic variantsNext-generation sequencingPolycystic kidney diseasePrimary cilium

Identifiers

PMID29527510
PMCPMC5838416
OpenAlexW2792133902

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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.