Associated Papers
Function of PHEX mutations p.Glu145* and p.Trp749Arg in families with X-linked hypophosphatemic rickets by the negative regulation mechanism on FGF23 promoter transcription.
Gan YM et al.
Cell Death & Disease, 2022
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
Functional Characterization of PHEX Gene Variants in Children With X-Linked Hypophosphatemic Rickets Shows No Evidence of Genotype-Phenotype Correlation.
Zheng B et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2020
Genetic analysis of three families with X-linked dominant hypophosphatemic rickets.
Lin X et al.
Journal of Pediatric Endocrinology & Metabolism : Jpem, 2018
[Novel PHEX gene mutations in patients with X-linked hypophosphatemic rickets: an analysis of 2 cases].
Ran Q et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2017
Mutational analysis of the PHEX gene: novel point mutations and detection of large deletions by MLPA in patients with X-linked hypophosphatemic rickets.
Clausmeyer S et al.
Calcified Tissue International, 2009
Three novel mutations of the PHEX gene in three Chinese families with X-linked dominant hypophosphatemic rickets.
Xia W et al.
Calcified Tissue International, 2007
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
The wrickkened pathways of FGF23, MEPE and PHEX.
Rowe PS
Critical Reviews in Oral Biology and Medicine : an Official Publication of the American Association of Oral Biologists, 2004
Structure and function of disease-causing missense mutations in the PHEX gene.
Sabbagh Y et al.
The Journal of Clinical Endocrinology and Metabolism, 2003
Novel phosphate-regulating genes in the pathogenesis of renal phosphate wasting disorders.
Tenenhouse HS et al.
Pflugers Archiv : European Journal of Physiology, 2002
Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein.
Sabbagh Y et al.
Human Molecular Genetics, 2001
Three novel PHEX gene mutations in Japanese patients with X-linked hypophosphatemic rickets.
Sato K et al.
Pediatric Research, 2000
Genetic disorders of calcium and phosphorus metabolism.
Root AW
Critical Reviews in Clinical Laboratory Sciences, 2000
Identification of fifteen novel PHEX gene mutations in Finnish patients with hypophosphatemic rickets.
Tyynismaa H et al.
Human Mutation, 2000
PHEXdb, a locus-specific database for mutations causing X-linked hypophosphatemia.
Sabbagh Y et al.
Human Mutation, 2000
Genomic organization of the human PEX gene mutated in X-linked dominant hypophosphatemic rickets.
Francis F et al.
Genome Research, 1997