Associated Papers
Novel PHEX gene locus-specific database: Comprehensive characterization of vast number of variants associated with X-linked hypophosphatemia (XLH).
Sarafrazi S et al.
Human Mutation, 2022
34806794 (PubMed )
Supplement: HUMU-43-143-s001.xlsx › Table_S1-_870_PHEX_variants
Overexpression of miR-1306-5p, miR-3195, and miR-3914 Inhibits Ameloblast Differentiation through Suppression of Genes Associated with Human Amelogenesis Imperfecta.
Yoshioka H et al.
International Journal of Molecular Sciences, 2021
33672174 (PubMed )
Supplement: ijms-22-02202-s001.zip › Supplementary_Table_S4-2_Final_021921.xlsx › Table_S3.2
Familial hypophosphatemic rickets caused by a PHEX gene mutation accompanied by a NPR2 missense mutation.
Zhao Y et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2020
The elevation of circulating fibroblast growth factor 23 without kidney disease does not increase cardiovascular disease risk.
Pastor-Arroyo EM et al.
Kidney International, 2018
Novel de novo nonsense mutation of the PHEX gene (p.Lys50Ter) in a Chinese patient with hypophosphatemic rickets.
Huang Y et al.
Gene, 2015
New mouse models for metabolic bone diseases generated by genome-wide ENU mutagenesis.
Sabrautzki S et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2012
Novel regulators of phosphate homeostasis and bone metabolism.
Jüppner H
Therapeutic Apheresis and Dialysis : Official Peer-reviewed Journal of the International Society for Apheresis, the Japanese Society for Apheresis, the Japanese Society for Dialysis Therapy, 2007
Two novel PHEX mutations in Taiwanese patients with X-linked hypophosphatemic rickets.
Lo FS et al.
Nephron. Physiology, 2006
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