Novel Truncating Variants in PODXL Represent a New Entity to Be Explored Among Podocytopathies

These findings further support evidence about genetic defects in the <i>PODXL</i> gene associated with a new molecular entity of podocytopathy with adult onset. Additionally, the nucleotide sequence of <i>PODXL</i> contains particularities that require careful analysis to interpret the effect of the variants detected in this gene.

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Publication Details

Journal
Genes
Published
2025-04-18
DOI
https://doi.org/10.3390/genes16040464
Citations
1
Primary Topic
Renal Diseases and Glomerulopathies
Type
article
Field-Weighted Citation Impact
1.43

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article

Novel Truncating Variants in PODXL Represent a New Entity to Be Explored Among Podocytopathies

Roser Torrá, Borja Quiroga, Patricia de Sequera, Cristina Castro-Alonso et al.
1 citations
Genes
Renal Diseases and Glomerulopathies
1.43
article

Novel Truncating Variants in PODXL Represent a New Entity to Be Explored Among Podocytopathies

Roser Torrá, Borja Quiroga, Patricia de Sequera, Cristina Castro-Alonso, Michal Červienka, José María García-Aznar, Alberto Ortíz, Miquel Blasco, María Lara Besada-Cerecedo, Milagros Sierra Carpio, Ricardo Mouzo
article en
1 citations

Abstract

These findings further support evidence about genetic defects in the <i>PODXL</i> gene associated with a new molecular entity of podocytopathy with adult onset. Additionally, the nucleotide sequence of <i>PODXL</i> contains particularities that require careful analysis to interpret the effect of the variants detected in this gene.

GenesVol. 16(4)
Universidad Complutense de Madrid (ES), Fundación para el Fomento de la Investigación Sanitaria y Biomédica de la Comunitat Valenciana (ES), Hospital El Bierzo (ES), Hospital Universitario Fundación Jiménez Díaz (ES), Hospital Universitario de La Princesa (ES), Hospital San Pedro (ES), Puigvert Foundation (ES), Fundació Clínic per a la Recerca Biomèdica (ES), Instituto de Investigación Biomédica de A Coruña (ES), Consorci Institut D'Investigacions Biomediques August Pi I Sunyer (ES), Hospital Universitario Infanta Leonor (ES), Fundació de Recerca Clínic Barcelona-Institut d’Investigacions Biomèdiques August Pi i Sunyer (ES), Universidad Autónoma de Madrid (ES), Universitat de Barcelona (ES)
Alexion Pharmaceuticals, Alnylam Pharmaceuticals, Sociedad Española de Nefrología, Chiesi España
Good health and well-being
Openalex Percentile: Top 21%
Renal Diseases and Glomerulopathies
1.43
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