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Article

A new human NHERF1 mutation decreases renal phosphate transporter NPT2a expression by a PTH-independent mechanism.

PloS one - 1 Jan 2012

Courbebaisse Marie, Leroy Christine, Bakouh Naziha, Salaün Christine, Beck Laurent, Grandchamp Bernard, Planelles Gabrielle, Hall Randy A, Friedlander Gérard, Prié Dominique

Abstract excerpt

BACKGROUND: The sodium-hydrogen exchanger regulatory factor 1 (NHERF1) binds to the main renal phosphate transporter NPT2a and to the parathyroid hormone (PTH) receptor. We have recently identified mutations in NHERF1 that decrease renal phosphate reabsorption by increasing PTH-induced cAMP production in the renal proximal tubule. METHODS: We compared relevant parameters of phosphate homeostasis in a patient with...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 22506049
DOI: 10.1371/journal.pone.0034764
PMCID: PMC3323571

Genes

NHERF1
PTH

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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