Evidence map›Paper›PMID 37377976›Full record

ReviewFrontiers in immunology2023

Combined novel homozygous variants in both

Adriel Roa-Bautista, Mahreen Sohail, Emma Wakeling, Kimberly C Gilmour, Mark Davis, Anthony Gait, Giovanna Lucchini, David Cox, Reem Elfeky, Maaike Kusters

Open access · goldAbstract readCase ReportsReview
In one paragraph

Review in Frontiers in immunology, 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, 6 citations in OpenAlex.

  1. Review
  2. Review
  3. Article
  4. [Research progress on monogenic inherited glomerular diseases with central nervous system symptoms].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2024
    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

10 authors at 3 institutions in 2 countries.

Adriel Roa-BautistaPaediatric Immunology Department, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, United Kingdom.
Mahreen SohailPaediatric Immunology Department, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, United Kingdom.
Emma WakelingPaediatric Immunology Department, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, United Kingdom.
Kimberly C GilmourPaediatric Immunology Department, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, United Kingdom.
Mark DavisPaediatric Immunology Department, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, United Kingdom.
Anthony GaitPaediatric Immunology Department, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, United Kingdom.
Giovanna LucchiniPaediatric Immunology Department, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, United Kingdom.
David CoxPaediatric Immunology Department, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, United Kingdom.
Reem ElfekyPaediatric Immunology Department, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, United Kingdom.
Maaike KustersPaediatric Immunology Department, Great Ormond Street Hospital for Children National Health Service (NHS) Foundation Trust, London, United Kingdom.
Great Ormond Street Hospital for Children NHS Foundation Trust · GBNational Health Service · GBGreat Ormond Street Hospital · GB

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Background: Sphingosine phosphate lyase insufficiency syndrome (SPLIS) is associated with biallelic variants in Case presentation: We report novel homozygous SGPL Conclusion: We report the finding of two novel, homozygous variants in

Indexed as

Immunologic Deficiency SyndromesNephrotic SyndromeSevere Combined ImmunodeficiencyAldehyde-LyasesHumansInfant, NewbornJanus KinasesSignal TransductionSTAT1 Transcription FactorSTAT Transcription FactorsAldehyde-LyasesJanus KinasesSGPL1 protein, humanSTAT1 protein, humanSTAT1 Transcription FactorSTAT Transcription Factorscase reportichthyosislymphopeniaSGPL1 gene mutationSTAT1steroid-resistant nephrotic syndrome (SRNS)

Identifiers

PMID37377976
PMCPMC10291229
OpenAlexW4380372557

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.