Evidence map›Paper›PMID 38170106›Full record

ArticleFrontiers in medicine2023

The most common founder pathogenic variant c.868G > A (p.Val290Met) in the

Dana Thomasová, Michaela Zelinová, Malgorzata Libik, Jan Geryk, Pavel Votýpka, Silvie Rajnochová Bloudíčková, Karel Krejčí, Jana Reiterová, Eva Jančová, Jana Machová and 8 more

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In one paragraph

Article in Frontiers in medicine, 2023. 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
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. 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

18 authors.

Dana ThomasováInstitute of Biology and Medical Genetics, University Hospital Motol and 2nd Faculty of Medicine, Charles University Prague, Prague, Czechia.
Michaela ZelinováInstitute of Biology and Medical Genetics, University Hospital Motol and 2nd Faculty of Medicine, Charles University Prague, Prague, Czechia.
Malgorzata LibikInstitute of Biology and Medical Genetics, University Hospital Motol and 2nd Faculty of Medicine, Charles University Prague, Prague, Czechia.
Jan GerykInstitute of Biology and Medical Genetics, University Hospital Motol and 2nd Faculty of Medicine, Charles University Prague, Prague, Czechia.
Pavel VotýpkaInstitute of Biology and Medical Genetics, University Hospital Motol and 2nd Faculty of Medicine, Charles University Prague, Prague, Czechia.
Silvie Rajnochová BloudíčkováDepartment of Nephrology, Institute for Clinical and Experimental Medicine, Prague, Czechia.
Karel Krejčí3rd Department of Internal Medicine-Nephrology, Rheumatology and Endocrinology, University Hospital and Faculty of Medicine Palacký University Olomouc, Olomouc, Czechia.
Jana ReiterováDepartment of Nephrology, General University Hospital in Prague, First Faculty of Medicine, Charles University, Prague, Czechia.
Eva JančováDepartment of Nephrology, General University Hospital in Prague, First Faculty of Medicine, Charles University, Prague, Czechia.
Jana MachováDepartment of Internal Medicine I, Faculty of Medicine in Pilsen, Charles University and Teaching Hospital, Pilsen, Czechia.
Martina KollárováDepartment of Internal Medicine, University Hospital Vinohrady and Third Faculty of Medicine, Charles University, Prague, Czechia.
Ivan RychíkDepartment of Internal Medicine, University Hospital Vinohrady and Third Faculty of Medicine, Charles University, Prague, Czechia.
Martin HavrdaDepartment of Internal Medicine, University Hospital Vinohrady and Third Faculty of Medicine, Charles University, Prague, Czechia.
Miroslava HoráčkováDepartment of Internal Medicine, University Hospital Motol and 2nd Faculty of Medicine, Charles University, Prague, Czechia.
Martina PutzováBiopticka Laboratory, Pilsen, Czechia.
Roman ŠafránekDepartment of Nephrology, University Hospital Hradec Králové, Faculty of Medicine in Hradec Králové, Charles University, Hradec Králové, Czechia.
Marek KollárDepartment of Pathology, Institute for Clinical and Experimental Medicine, Prague, Czechia.
Milan MacekInstitute of Biology and Medical Genetics, University Hospital Motol and 2nd Faculty of Medicine, Charles University Prague, Prague, Czechia.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Genetic focal segmental glomerulosclerosis (FSGS) is caused by pathogenic variants in a broad spectrum of genes that have a variable representation based on subjects' ethnicity and/or age. The most frequently mutated autosomal recessive gene in FSGS is Methods: A representative cohort of 234 adult patients with FSGS, derived from 225 families originating from all regions of Czechia, was analyzed by massively parallel sequencing. In this study, we focused on the comprehensive analysis of the Results: We detected seven (3%) cases bearing homozygous or compound heterozygous pathogenic Conclusions: We identified the most prevalent pathogenic variant, p.Val290Met, in the

Indexed as

end-stage renal diseaseexome sequencingfocal segmental glomerulosclerosisnephrotic syndromeNPHS2proteinuria

Identifiers

PMID38170106
PMCPMC10759319

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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.