Evidence map›Paper›PMID 41898877›Full record

ArticleGenes2026

Broadening the Phenotypic Spectrum of

Aviva Eliyahu, Danit Atias-Varon, Ortal Barel, Yulia Khavkin, Elon Pras, Haike Reznik-Wolf, Odelia Chorin, Tomer Poleg, Ari Biller, Pazit Beckerman and 5 more

Abstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in Genes, 2026. 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
–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

0 citing papers in PubMed.

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

15 authors.

Aviva EliyahuThe Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Ramat Gan 52621, Israel.
Danit Atias-VaronGenetic Kidney Disease Research Laboratory, Edmond and Lily Safra Children's Hospital, Sheba Medical Center, Tel-Hashomer, Ramat Gan 52621, Israel.
Ortal BarelThe Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Ramat Gan 52621, Israel.
Yulia KhavkinThe Genomic Unit, Sheba Cancer Research Center, Sheba Medical Center, Tel-Hashomer, Ramat Gan 52621, Israel.
Elon PrasThe Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Ramat Gan 52621, Israel.
Haike Reznik-WolfThe Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Ramat Gan 52621, Israel.
Odelia ChorinThe Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Ramat Gan 52621, Israel.
Tomer PolegThe Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences, Ben Gurion University of the Negev, Beer-Sheva 84105, Israel.ORCID 0000-0003-2418-2972
Ari BillerThe Morris Kahn Laboratory of Human Genetics, Faculty of Health Sciences, Ben Gurion University of the Negev, Beer-Sheva 84105, Israel.ORCID 0009-0002-5167-7217
Pazit BeckermanGray Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv 69978, Israel.ORCID 0000-0003-3061-6757
Nabil Abu-AmerGray Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv 69978, Israel.ORCID 0000-0001-7310-9689
Tamara Wygnanski-JaffeGray Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv 69978, Israel.
Lior GreenbaumThe Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel-Hashomer, Ramat Gan 52621, Israel.
Asaf VivanteGray Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv 69978, Israel.
Irit KrauseGray Faculty of Medical and Health Sciences, Tel-Aviv University, Tel-Aviv 69978, Israel.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

backgroundFocal segmental glomerulosclerosis (FSGS) is a leading cause of renal disease presenting with steroid-resistant nephrotic syndrome (SNRS) and variable stages of chronic kidney disease (CKD). Monogenic etiologies for FSGS are increasingly recognized, particularly in pediatric and familial cases. Missense variants in the MAF BZIP Transcription Factor B (

methodsDetailed clinical and genetic investigations were conducted in an extended family presenting with a spectrum of renal and extra-renal manifestations.

resultsUsing Exome Sequencing (ES), a heterozygous variant, c.797T>C; p.(Leu266Pro) in the

conclusionsOur findings expand the phenotypic spectrum of

Indexed as

Duane Retraction SyndromeGlomerulosclerosis, Focal SegmentalMafB Transcription FactorRenal Insufficiency, ChronicAdultChildFemaleHumansMaleMutation, MissenseNephrotic SyndromePedigreePhenotypeProteinuriaMAFB protein, humanMafB Transcription Factorchronic kidney diseaseDuane retraction syndromefocal segmental glomerulosclerosisMAFB

Identifiers

PMID41898877
PMCPMC13026826

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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.