Evidence map›Paper›PMID 31315584›Full record

ArticleBMC nephrology2019

Identification of novel mutations and phenotype in the steroid resistant nephrotic syndrome gene NUP93: a case report.

Ibrahim Sandokji, Jonathan Marquez, Weizhen Ji, Cynthia A Zerillo, Monica Konstantino, Saquib A Lakhani, Mustafa K Khokha, Jillian K Warejko

Open access · goldAbstract readCase Reports
PubMed Full text at PMC Publisher
In one paragraph

Article in BMC nephrology, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.

0numbers the graph read from it
0cells of the map it votes in
8citing papers in PubMed
0.6field-weighted citation impact, top 34% 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

8 citing papers in PubMed, 13 citations in OpenAlex.

  1. Article
  2. Nucleoporin-associated steroid-resistant nephrotic syndrome.Pediatric nephrology (Berlin, Germany) · 2025
    Review
  3. Article
  4. Steroid-Resistant Nephrotic Syndrome Caused byJournal of clinical medicine · 2023
    Article
  5. A rare cause of steroid-resistant nephrotic syndrome - a case report.Central-European journal of immunology · 2023
    Article
  6. Structure and Function of the Nuclear Pore Complex.Cold Spring Harbor perspectives in biology · 2022
    Review
  7. Article
  8. 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

8 authors at 1 institution in 1 country.

Ibrahim SandokjiDepartment of Pediatrics, Section of Nephrology, Yale University School of Medicine, 333 Cedar St., PO Box 208064, New Haven, CT, 06520-8064, USA.
Jonathan MarquezPediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT, USA.
Weizhen JiPediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT, USA.
Cynthia A ZerilloPediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT, USA.
Monica KonstantinoPediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT, USA.
Saquib A LakhaniPediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT, USA.
Mustafa K KhokhaPediatric Genomics Discovery Program, Department of Pediatrics and Genetics, Yale University School of Medicine, New Haven, CT, USA.
Jillian K WarejkoDepartment of Pediatrics, Section of Nephrology, Yale University School of Medicine, 333 Cedar St., PO Box 208064, New Haven, CT, 06520-8064, USA. jillian.warejko@yale.edu.ORCID 0000-0003-1395-9555
Yale University · US

Funding

Yale Clinical and Translational Science Award (U Component)UL1TR001863 · NCATS · YALE UNIVERSITY · PI John H. Krystal, LUCILA OHNO-MACHADO · 2016 to 2026
$102.9M
MEDICAL SCIENTIST TRAINING PROGRAMT32GM007205 · NIGMS · YALE UNIVERSITY · PI KAZMIERCZAK, BARBARA I · 1985 to 2019
$42.9M
New Mechanisms of Heterotaxy and Congenital Heart Disease: Nucleoporins at CiliaR01HL124402 · NHLBI · YALE UNIVERSITY · PI KHOKHA, MUSTAFA K, LUSK, CHARLES PATRICK · 2015 to 2022
$5.5M
NCATS NIH HHS UL1 TR001863NHLBI NIH HHS R01 HL124402NIGMS NIH HHS T32 GM007205NIH HHS R01HL124402
6 · The paper itself

Abstract

backgroundMonogenic mutations may be a significant cause of steroid-resistant nephrotic syndrome. NUP93 is a gene previously reported to cause isolated steroid-resistant nephrotic syndrome. CASE PRESENTATION: Here we describe a case of recessive, syndromic, steroid-resistant nephrotic syndrome caused by NUP93 mutation.

conclusionsNUP93 may convey a phenotype that has not only SRNS, but also other syndromic features.

Indexed as

MutationPhenotypeChild, PreschoolDrug ResistanceFemaleHumansNephrotic SyndromeNuclear Pore Complex ProteinsNuclear Pore Complex ProteinsNup93 protein, humanFocal segmental glomerulosclerosisGeneticsInherited diseasesSteroid-resistant nephrotic syndromeWhole exome sequencing

Identifiers

PMID31315584
PMCPMC6637548
OpenAlexW2958906974

What OpenQuestion holds

Textmetadata
LicenceCC BY
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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.