A Novel Heterozygous Deletion Variant in <i>KLOTHO</i> Gene Leading to Haploinsufficiency and Impairment of Fibroblast Growth Factor 23 Signaling Pathway

A Novel Heterozygous Deletion Variant in <i>KLOTHO</i> Gene Leading to Haploinsufficiency and Impairment of Fibroblast Growth Factor 23 Signaling Pathway

Hyperphosphatemia is commonly present in end-stage renal disease. Klotho (KL) is implicated in phosphate homeostasis since it acts as obligate co-receptor for the fibroblast growth factor 23 (FGF23), a major phosphaturic hormone. We hypothesized that genetic variation in the KL gene might be associa...

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Bibliographic Details
Main Authors: Ernesto Martín-Núñez, Javier Donate-Correa, Caroline Kannengiesser, David-Paul De Brauwere, Christine Leroy, Claire Oudin, Gérard Friedlander, Carol Prieto-Morín, Víctor G. Tagua, Pablo A. Ureña-Torres, Juan F. Navarro-González
Format: Article
Language:English
Published: MDPI AG 2019-04-01
Series:Journal of Clinical Medicine
Subjects:
Klotho
deletion
haploinsufficiency
fibroblast growth factor 23
hyperphosphatemia
end-stage renal disease
Online Access:https://www.mdpi.com/2077-0383/8/4/500

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https://www.mdpi.com/2077-0383/8/4/500

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