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Article

Nephrin mutations cause childhood- and adult-onset focal segmental glomerulosclerosis.

Kidney international - 1 Dec 2009

Santín Sheila, García-Maset Rafael, Ruíz Patricia, Giménez Isabel, Zamora Isabel, Peña Antonia, Madrid Alvaro, Camacho Juan A, Fraga Gloria, Sánchez-Moreno Ana, Cobo Maria Angeles, Bernis Carmen, Ortiz Alberto, de Pablos Augusto Luque, Pintos Guillem, Justa Maria Luisa, Hidalgo-Barquero Emilia, Fernández-Llama Patricia, Ballarín José, Ars Elisabet, Torra Roser

Abstract excerpt

Mutations in the NPHS1 gene cause congenital nephrotic syndrome of the Finnish type presenting before the first 3 months of life. Recently, NPHS1 mutations have also been identified in childhood-onset steroid-resistant nephrotic syndrome and milder courses of disease, but their role in adults with focal segmental glomerulosclerosis remains unknown. Here we developed an in silico scoring matrix to evaluate the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 19812541
DOI: 10.1038/ki.2009.381

Genes

NPHS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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