Evidence map›Paper›PMID 40282423›Full record

ArticleGenes2025

Novel Truncating Variants in

José María García-Aznar, María Lara Besada-Cerecedo, Cristina Castro-Alonso, Milagros Sierra Carpio, Miquel Blasco, Borja Quiroga, Michal Červienka, Ricardo Mouzo, Roser Torra, Alberto Ortiz and 1 more

Abstract read
In one paragraph

Article in Genes, 2025. 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. 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

11 authors.

José María García-AznarClinical Area of Genetic Diagnostic in Nephrology, Healthincode, 15008 A Coruña, Spain.ORCID 0000-0001-5225-6823
María Lara Besada-CerecedoClinical Area of Genetic Diagnostic in Nephrology, Healthincode, 15008 A Coruña, Spain.
Cristina Castro-AlonsoDepartment of Nephrology, Doctor Peset University Hospital, Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (FISABIO), 46020 Valencia, Spain.ORCID 0000-0002-8363-1953
Milagros Sierra CarpioNephrology Department, Hospital Universitario San Pedro, 26006 Logroño, Spain.
Miquel BlascoNephrology and Kidney Transplant Department, National Reference Center for Complex Glomerular Diseases (CSUR), Hospital Clínic, Barcelona University, 08036 Barcelona, Spain.
Borja QuirogaNephrology Department, Hospital Universitario de la Princesa, 28006 Madrid, Spain.ORCID 0000-0001-5730-1929
Michal ČervienkaNephrology Department, Hospital El Bierzo, 24404 Ponferrada, Spain.
Ricardo MouzoNephrology Department, Hospital El Bierzo, 24404 Ponferrada, Spain.ORCID 0000-0001-5224-4291
Roser TorraNephrology Department, Fundació Puigvert, 08025 Barcelona, Spain.ORCID 0000-0001-8714-2332
Alberto OrtizNephrology and Hypertension Department, IIS-Fundación Jiménez Díaz UAM, 28040 Madrid, Spain.ORCID 0000-0002-9805-9523
Patricia de SequeraNephrology Department, Hospital Universitario Infanta Leonor, 28031 Madrid, Spain.ORCID 0000-0001-7705-9228

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

BACKGROUND/

objectivesPodocalyxin is a sialoprotein mainly expressed in the kidney cortex and lung tissue, which has been described as a component of the podocyte glycocalyx. This protein promotes the reorganization of the podocyte cytoskeleton, as well as the morphogenesis and differentiation of nascent podocytes, actively participating in glomerular filtration. Previous research has suggested that

methodsWe performed high-throughput sequencing in a cohort of young adults with CKD, describing the clinical scenario of those who harbored truncating variants in the

resultsThe

conclusionsThese findings further support evidence about genetic defects in the

Indexed as

Glomerulosclerosis, Focal SegmentalPodocytesRenal Insufficiency, ChronicSialoglycoproteinsAdolescentAdultFemaleHigh-Throughput Nucleotide SequencingHumansMaleMutationPedigreeYoung AdultpodocalyxinSialoglycoproteinsCKD 1podocytopathy 3PODXL 2

Identifiers

PMID40282423
PMCPMC12026838

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.