Evidence map›Paper›PMID 38139322›Full record

ArticleInternational journal of molecular sciences2023

Phenotype-Genotype Correlations in Three Different Cases of Adult-Onset Genetic Focal Segmental Glomerulosclerosis.

Tibor Kalmár, Sándor Turkevi-Nagy, László Bitó, László Kaiser, Zoltán Maróti, Dániel Jakab, Annamária Letoha, Péter Légrády, Béla Iványi

Open access · goldAbstract read
In one paragraph

Article in International journal of molecular sciences, 2023. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.

0numbers the graph read from it
0cells of the map it votes in
4citing papers in PubMed
1.0field-weighted citation impact, top 23% 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

4 citing papers in PubMed, 5 citations in OpenAlex.

  1. Article
  2. Genotypic and phenotypic spectrum of maple syrup urine disease in Zhejiang of China.QJM : monthly journal of the Association of Physicians · 2024
    Article
  3. Aberrant Splicing ofInternational journal of nephrology and renovascular disease · 2024
    Article
  4. 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 1 institution in 1 country.

Tibor KalmárDepartment of Pediatrics, Albert Szent-Györgyi Health Centre, University of Szeged, Temesvari krt 35-37, 6726 Szeged, Hungary.ORCID 0000-0002-0419-2009
Sándor Turkevi-NagyDepartment of Pediatrics, Albert Szent-Györgyi Health Centre, University of Szeged, Temesvari krt 35-37, 6726 Szeged, Hungary.
László BitóDepartment of Internal Medicine, Albert Szent-Györgyi Health Centre, University of Szeged, 6726 Szeged, Hungary.
László KaiserDepartment of Pediatrics, Albert Szent-Györgyi Health Centre, University of Szeged, Temesvari krt 35-37, 6726 Szeged, Hungary.
Zoltán MarótiDepartment of Pediatrics, Albert Szent-Györgyi Health Centre, University of Szeged, Temesvari krt 35-37, 6726 Szeged, Hungary.ORCID 0000-0002-0515-117X
Dániel JakabDepartment of Pediatrics, Albert Szent-Györgyi Health Centre, University of Szeged, Temesvari krt 35-37, 6726 Szeged, Hungary.
Annamária LetohaDepartment of Internal Medicine, Centre of Clinical Infectology and Acute Internal Medicine, Albert Szent-Györgyi Health Centre, University of Szeged, 6726 Szeged, Hungary.
Péter LégrádyDepartment of Internal Medicine, Albert Szent-Györgyi Health Centre, University of Szeged, 6726 Szeged, Hungary.
Béla IványiDepartment of Pediatrics, Albert Szent-Györgyi Health Centre, University of Szeged, Temesvari krt 35-37, 6726 Szeged, Hungary.
University of Szeged · HU

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

This study highlights the importance of a combined diagnostic approach in the diagnosis of rare diseases, such as adult-onset genetic FSGS. We present three adult patient cases evaluated with kidney biopsy for proteinuria, chronic kidney disease, and hypertension, which were suggestive of adult-onset genetic FSGS. Renal biopsy samples and formalin-fixed, paraffin-embedded fetal kidneys were evaluated using standard light microscopical stainings, direct immunofluorescence on cryostat sections, and electron microscopy. Clinical exome sequencing was performed for each case, and 45 FSGS-related genes were analyzed. Identifying mutations in the

Indexed as

Glomerulosclerosis, Focal SegmentalAdultGenotypeHumansKidney GlomerulusMutationPhenotypeACTN4 geneCLCN5 geneCOL4A5 genegenetic FSGSPAX2 geneproteinuriarenal biopsy

Identifiers

PMID38139322
PMCPMC10743622
OpenAlexW4389788509

What OpenQuestion holds

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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.