Evidence map›Paper›PMID 38674071›Full record

ArticleInternational journal of molecular sciences2024

A Rare De Novo Mutation in the

Marta Badeńska, Małgorzata Pac, Andrzej Badeński, Karolina Rutkowska, Justyna Czubilińska-Łada, Rafał Płoski, Nadezda Bohynikova, Maria Szczepańska

Open access · goldAbstract readCase Reports
In one paragraph

Article in International journal of molecular sciences, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Not yet cited in PubMed.

0numbers the graph read from it
0cells of the map it votes in
0citing papers in PubMed
0.7field-weighted citation impact, top 29% 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

0 citing papers in PubMed, 2 citations in OpenAlex.

No citing paper in PubMed yet.

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

8 authors at 3 institutions in 1 country.

Marta BadeńskaDepartment of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, ul. 3 Maja 13/15, 41-800 Zabrze, Poland.
Małgorzata PacDepartment of Immunology, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.ORCID 0000-0003-2071-3297
Andrzej BadeńskiDepartment of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, ul. 3 Maja 13/15, 41-800 Zabrze, Poland.ORCID 0000-0001-6947-005X
Karolina RutkowskaDepartment of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.ORCID 0000-0001-6688-2593
Justyna Czubilińska-ŁadaDepartment of Neonatal Intensive Care and Neonatal Pathology, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, ul. 3 Maja 13/15, 41-800 Zabrze, Poland.ORCID 0000-0003-2842-3307
Rafał PłoskiDepartment of Medical Genetics, Medical University of Warsaw, 02-106 Warsaw, Poland.ORCID 0000-0001-6286-5526
Nadezda BohynikovaDepartment of Immunology, The Children's Memorial Health Institute, 04-730 Warsaw, Poland.
Maria SzczepańskaDepartment of Pediatrics, Faculty of Medical Sciences in Zabrze, Medical University of Silesia in Katowice, ul. 3 Maja 13/15, 41-800 Zabrze, Poland.ORCID 0000-0002-6772-1983
Medical University of Silesia · PLChildren's Memorial Health Institute · PLMedical University of Warsaw · PL

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Idiopathic nephrotic syndrome is the most common chronic glomerular disease in children. Treatment with steroids is usually successful; however, in a small percentage of patients, steroid resistance is observed. The most frequent histologic kidney feature of steroid-resistant nephrotic syndrome (SRNS) is focal segmental glomerulosclerosis (FSGS). Genetic testing has become a valuable diagnostic tool in defining the etiology of SRNS, leading to the identification of a genetic cause. The

Indexed as

Glomerulosclerosis, Focal SegmentalNephrotic SyndromeNerve Tissue ProteinsAdolescentCarrier ProteinsHumansMaleMutationCarrier ProteinsNerve Tissue ProteinsTRIM8 protein, humanchildrendialysisneurological complicationssteroid-resistant nephrotic syndromeTRIM8 gene mutation

Identifiers

PMID38674071
PMCPMC11050435
OpenAlexW4394941938

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.