Evidence map›Paper›PMID 39596574›Full record

ArticleGenes2024

Lama S Almohlesy, Faiqa Imtiaz, Maha Tulbah, Amal Alhashem, Manar Alhajooj, Abdullah Alhashem, Holly Mabillard, John A Sayer, Khalid K Alharbi, Mohamed H Al-Hamed

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

Article in Genes, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing 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

1 citing paper in PubMed.

  1. 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.

Lama S AlmohlesyPathology and Laboratory Medicine Department, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia.
Faiqa ImtiazCentre for Genomic Medicine, King Faisal Specialist Hospital and Research Centre, MBC# 26, P.O. Box 3354, Riyadh 11211, Saudi Arabia.ORCID 0000-0002-2961-5733
Maha TulbahDepartment of Obstetrics and Genecology, King Faisal Specialist Hospital and Research Centre, P.O. Box 3354, Riyadh 11211, Saudi Arabia.ORCID 0000-0002-9529-9791
Amal AlhashemPrince Sultan Military Medical City, Riyadh 12233, Saudi Arabia.ORCID 0000-0002-9668-7809
Manar AlhajoojCollege of Medicine and Medical Sciences, Arabian Gulf University, Manama P.O. Box 26671, Bahrain.
Abdullah AlhashemPrince Sultan Military Medical City, Riyadh 12233, Saudi Arabia.
Holly MabillardTranslational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.ORCID 0000-0001-6725-7570
John A SayerTranslational and Clinical Research Institute, Faculty of Medical Sciences, Newcastle University, Central Parkway, Newcastle upon Tyne NE1 3BZ, UK.ORCID 0000-0003-1881-3782
Khalid K AlharbiDepartment of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, Riyadh 11433, Saudi Arabia.ORCID 0000-0001-8355-5033
Mohamed H Al-HamedDepartment of Clinical Laboratory Sciences, College of Applied Medical Sciences, King Saud University, Riyadh 11433, Saudi Arabia.ORCID 0000-0002-7207-6122

Funding

Medical Research Council MR/V028723/1
6 · The paper itself

Abstract

backgroundNephronophthisis (NPHP) is an autosomal recessive genetic disorder that can cause early-onset kidney failure.

methodsThree unrelated Saudi Arabian patients (two prenatal patients and one neonate) were investigated. These cases were referred to the hospital due to the presence of echogenic kidneys on antenatal scanning. After clinical and phenotypic evaluation, whole-exome sequencing (WES) was performed on the cord and peripheral blood to identify the molecular genetic causes associated with the echogenic kidney phenotypes.

resultsTwo homozygous sequence variants were detected in

conclusionsWe identified homozygous

Indexed as

Nuclear ProteinsPolycystic Kidney DiseasesAdultCarrier ProteinsConsanguinityExome SequencingFemaleHomozygoteHumansInfant, NewbornKidneyMaleMutationMutation, MissensePedigreePregnancyANKS6 protein, humanCarrier ProteinsNuclear ProteinsANKS6consanguineousechogenic kidneynephronophthisiswhole-exome sequencing

Identifiers

PMID39596574
PMCPMC11593910

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.