Evidence map›Paper›PMID 35856135›Full record

ArticleClinical genetics2022

A biallelic loss-of-function PDIA6 variant in a second patient with polycystic kidney disease, infancy-onset diabetes, and microcephaly.

Elisa De Franco, Matthew N Wakeling, Russel D Frew, James Russ-Silsby, Catherine Peters, Stephen D Marks, Andrew T Hattersley, Sarah E Flanagan

Open access · hybridAbstract readCase ReportsLetter
PubMed Full text at PMC Publisher
In one paragraph

Article in Clinical genetics, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers, 1 of them a synthesis that pooled it.

0numbers the graph read from it
0cells of the map it votes in
6citing papers in PubMed, 1 pooled it
1.7field-weighted citation impact, top 16% 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

6 citing papers in PubMed, 1 synthesis or guideline pooled it, 10 citations in OpenAlex.

  1. Pooled it
  2. Article
  3. Article
  4. Review
  5. Review
  6. Neonatal diabetes mellitus around the world: Update 2024.Journal of diabetes investigation · 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

8 authors at 2 institutions in 1 country.

Elisa De FrancoInstitute of Biomedical and Clinical Science, University of Exeter College of Medicine and Health, Exeter, UK.ORCID 0000-0002-1437-7891
Matthew N WakelingInstitute of Biomedical and Clinical Science, University of Exeter College of Medicine and Health, Exeter, UK.ORCID 0000-0002-6542-9241
Russel D FrewInstitute of Biomedical and Clinical Science, University of Exeter College of Medicine and Health, Exeter, UK.
James Russ-SilsbyInstitute of Biomedical and Clinical Science, University of Exeter College of Medicine and Health, Exeter, UK.ORCID 0000-0002-4470-2544
Catherine PetersDepartment of Pediatric Endocrinology, Great Ormond Street Hospital for Children, London, UK.
Stephen D MarksDepartment of Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.ORCID 0000-0001-9850-8352
Andrew T HattersleyInstitute of Biomedical and Clinical Science, University of Exeter College of Medicine and Health, Exeter, UK.ORCID 0000-0001-5620-473X
Sarah E FlanaganInstitute of Biomedical and Clinical Science, University of Exeter College of Medicine and Health, Exeter, UK.ORCID 0000-0002-8670-6340
University of Exeter · GBGreat Ormond Street Hospital · GB

Funding

Wellcome Trust
6 · The paper itself

Abstract

We report a second patient with intrauterine growth retardation, congenital polycystic kidney disease, infancy-onset diabetes, microcephaly, and liver fibrosis caused by a homozygous PDIA6 loss-of-function variant. Our study further defines the genetic and clinical features of this rare syndromic form of infancy-onset diabetes.

Indexed as

Diabetes MellitusMicrocephalyPolycystic Kidney DiseasesFemaleFetal Growth RetardationHomozygoteHumansProtein Disulfide-IsomerasesPDIA6 protein, humanProtein Disulfide-Isomerasesinfancy-onset diabetesmicrocephalyPDIA6polycystic kidney diseasetranscriptwhole genome sequencing

Identifiers

PMID35856135
PMCPMC9796798
OpenAlexW4285799815

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.