Associated Papers
Autosomal dominant hypophosphatemic rickets: a case report of two sisters with a novel FGF-23 mutation.
Mumbach G et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2025
A Rare Cause of Sacral Insufficiency Fracture in Adolescence: Autosomal Dominant Hypophosphatemic Rickets due to Fgf23 de novo P.Arg176trp Variant.
Aytaç Kaplan EH et al.
Journal of Clinical Research in Pediatric Endocrinology, 2025
A case of autosomal dominant hypophosphatemic rickets.
Takishima S et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2025
Bone characteristics of autosomal dominant hypophosphatemic rickets patients.
Liu C et al.
Bone, 2023
Autosomal Dominant Hypophosphatemic Rickets: A Case Report and Review of the Literature.
Mameli C et al.
International Journal of Environmental Research and Public Health, 2021
Iron deficiency plays essential roles in the trigger, treatment, and prognosis of autosomal dominant hypophosphatemic rickets.
Liu C et al.
Osteoporosis International : a Journal Established as Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the Usa, 2021
Hypophosphatemic Rickets with R179W Mutation in FGFR23 Gene - A Rare But Treatable Cause of Refractory Rickets.
Sandal S et al.
Indian Journal of Pediatrics, 2021
Genetic basis of hereditary hypophosphataemic rickets and phenotype presentation in children and adults.
Tavana N et al.
Endokrynologia Polska, 2021
Earlier Onset in Autosomal Dominant Hypophosphatemic Rickets of R179 than R176 Mutations in Fibroblast Growth Factor 23: Report of 20 Chinese Cases and Review of the Literature.
Liu C et al.
Calcified Tissue International, 2019
Congenital hypophosphataemia in adults: determinants of bone turnover markers and amelioration of renal phosphate wasting following total parathyroidectomy.
McKenna MJ et al.
Journal of Bone and Mineral Metabolism, 2019
Phosphate homeostasis disorders.
Christov M et al.
Best Practice & Research. Clinical Endocrinology & Metabolism, 2018
Genetics of Refractory Rickets: Identification of Novel PHEX Mutations in Indian Patients and a Literature Update.
Marik B et al.
Journal of Pediatric Genetics, 2018
Development and Validation of a Simple Diagnostic Method to Detect Gain and Loss of Function Defects in Fibroblast Growth Factor-23.
Ramadan AR et al.
Hormone Research in Paediatrics, 2016
The secretory pathway kinases.
Sreelatha A et al.
Biochimica Et Biophysica Acta, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Mutational analysis of patients with FGF23-related hypophosphatemic rickets.
Kinoshita Y et al.
European Journal of Endocrinology, 2012
FGF23 analysis of a Chinese family with autosomal dominant hypophosphatemic rickets.
Sun Y et al.
Journal of Bone and Mineral Metabolism, 2012
Iron modifies plasma FGF23 differently in autosomal dominant hypophosphatemic rickets and healthy humans.
Imel EA et al.
The Journal of Clinical Endocrinology and Metabolism, 2011
Mutational analysis of PHEX, FGF23 and DMP1 in a cohort of patients with hypophosphatemic rickets.
Ruppe MD et al.
Clinical Endocrinology, 2011
Hereditary disorders of renal phosphate wasting.
Alizadeh Naderi AS et al.
Nature Reviews. Nephrology, 2010
An autosomal dominant hypophosphatemic rickets phenotype in a Tunisian family caused by a new FGF23 missense mutation.
Gribaa M et al.
Journal of Bone and Mineral Metabolism, 2010
Tumor-induced osteomalacia.
Farrow EG et al.
Expert Review of Endocrinology & Metabolism, 2009
Molecular pathology of the fibroblast growth factor family.
Krejci P et al.
Human Mutation, 2009
Emerging topics in pediatric bone and mineral disorders 2008.
McKay CP et al.
Seminars in Nephrology, 2009
Molecular genetic and biochemical analyses of FGF23 mutations in familial tumoral calcinosis.
Garringer HJ et al.
American Journal of Physiology. Endocrinology and Metabolism, 2008
Two novel GALNT3 mutations in familial tumoral calcinosis.
Garringer HJ et al.
American Journal of Medical Genetics. Part A, 2007
Biological activity of FGF-23 fragments.
Berndt TJ et al.
Pflugers Archiv : European Journal of Physiology, 2007
How fibroblast growth factor 23 works.
Liu S et al.
Journal of the American Society of Nephrology : Jasn, 2007
FGF23 concentrations vary with disease status in autosomal dominant hypophosphatemic rickets.
Imel EA et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2007
Hypophosphatemic rickets and osteomalacia.
de Menezes Filho H et al.
Arquivos Brasileiros De Endocrinologia E Metabologia, 2006
Molecular bases of diseases characterized by hypophosphatemia and phosphaturia: new understanding.
Ozono K et al.
Clinical Pediatric Endocrinology : Case Reports and Clinical Investigations : Official Journal of the Japanese Society for Pediatric Endocrinology, 2006
Fibroblast growth factor 23 and its receptors.
Yu X et al.
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, 2005
Inhibition of intestinal sodium-dependent inorganic phosphate transport by fibroblast growth factor 23.
Miyamoto K et al.
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, 2005
Fibroblast growth factor 23 reduces expression of type IIa Na+/Pi co-transporter by signaling through a receptor functionally distinct from the known FGFRs in opossum kidney cells.
Yan X et al.
Genes to Cells : Devoted to Molecular & Cellular Mechanisms, 2005
[Novel phosphate regulating genes and osteoporosis].
Miyamoto K et al.
Clinical Calcium, 2005
FGF23 and disorders of phosphate homeostasis.
Yu X et al.
Cytokine & Growth Factor Reviews, 2005
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.
Benet-Pagès A et al.
Human Molecular Genetics, 2005
FGF23 is processed by proprotein convertases but not by PHEX.
Benet-Pagès A et al.
Bone, 2004
Transgenic mice expressing fibroblast growth factor 23 under the control of the alpha1(I) collagen promoter exhibit growth retardation, osteomalacia, and disturbed phosphate homeostasis.
Larsson T et al.
Endocrinology, 2004
The regulation and function of phosphate in the human body.
Takeda E et al.
Biofactors (oxford, England), 2004
Regulation of fibroblastic growth factor 23 expression but not degradation by PHEX.
Liu S et al.
The Journal of Biological Chemistry, 2003
The autosomal dominant hypophosphatemic rickets R176Q mutation in fibroblast growth factor 23 resists proteolytic cleavage and enhances in vivo biological potency.
Bai XY et al.
The Journal of Biological Chemistry, 2003
Immunohistochemical detection of FGF-23 protein in tumors that cause oncogenic osteomalacia.
Larsson T et al.
European Journal of Endocrinology, 2003
Molecular pathogenesis of hypophosphatemic rickets.
Jan de Beur SM et al.
The Journal of Clinical Endocrinology and Metabolism, 2002
Novel phosphate-regulating genes in the pathogenesis of renal phosphate wasting disorders.
Tenenhouse HS et al.
Pflugers Archiv : European Journal of Physiology, 2002
Autosomal-dominant hypophosphatemic rickets (ADHR) mutations stabilize FGF-23.
White KE et al.
Kidney International, 2001
Autosomal dominant hypophosphataemic rickets is associated with mutations in FGF23.
Unknown Author
Nature Genetics, 2000
Inorganic phosphate homeostasis and the role of dietary phosphorus.
Takeda E et al.
Journal of Cellular and Molecular Medicine, 0