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
A Novel Pathogenic Variant in Fibroblast Growth Factor 23 outside the Furin-Recognizing RXXR Motif in an Autosomal Dominant Hypophosphatemic Rickets Patient.
Tanaka H et al.
Hormone Research in Paediatrics, 2025
Advancing Cancer Care in Colombia: Results of the First In Situ Implementation of Comprehensive Genomic Profiling.
López Rivera JJ et al.
Journal of Personalized Medicine, 2024
Oncogene-Driven Non-Small Cell Lung Cancers in Patients with a History of Smoking Lack Smoking-Induced Mutations.
Huang CY et al.
Cancer Research, 2024
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Mutations in an unrecognized internal NPT2A PDZ motif disrupt phosphate transport and cause congenital hypophosphatemia.
Sneddon WB et al.
The Biochemical Journal, 2023
Mutations in an unrecognized internal NPT2A PDZ motif disrupt phosphate transport causing congenital hypophosphatemia.
Sneddon WB et al.
Biorxiv : the Preprint Server for Biology, 2023
Bone characteristics of autosomal dominant hypophosphatemic rickets patients.
Liu C et al.
Bone, 2023
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Molecular Diagnoses of X-Linked and Other Genetic Hypophosphatemias: Results From a Sponsored Genetic Testing Program.
Rush ET et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022
PTH, FGF-23, Klotho and Vitamin D as regulators of calcium and phosphorus: Genetics, epigenetics and beyond.
Portales-Castillo I et al.
Frontiers in Endocrinology, 2022
Osteocytes and the pathogenesis of hypophosphatemic rickets.
Yamazaki M et al.
Frontiers in Endocrinology, 2022
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
Genetic basis of hereditary hypophosphataemic rickets and phenotype presentation in children and adults.
Tavana N et al.
Endokrynologia Polska, 2021
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
Multidisciplinary patient care in X-linked hypophosphatemic rickets: one challenge, many perspectives.
Raimann A et al.
Wiener Medizinische Wochenschrift (1946), 2020
Oral Iron for Prevention and Treatment of Rickets and Osteomalacia in Autosomal Dominant Hypophosphatemia.
Högler W et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2020
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
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 2019
Role of αKlotho and FGF23 in regulation of type II Na-dependent phosphate co-transporters.
Hu MC et al.
Pflugers Archiv : European Journal of Physiology, 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
α-Klotho is a non-enzymatic molecular scaffold for FGF23 hormone signalling.
Chen G et al.
Nature, 2018
PAI-1 is a critical regulator of FGF23 homeostasis.
Eren M et al.
Science Advances, 2017
FGF23/FGFR4-mediated left ventricular hypertrophy is reversible.
Grabner A et al.
Scientific Reports, 2017
FGF23-S129F mutant bypasses ER/Golgi to the circulation of hyperphosphatemic familial tumoral calcinosis patients.
Shawar SM et al.
Bone, 2016
Fibroblast growth factor 23 directly targets hepatocytes to promote inflammation in chronic kidney disease.
Singh S et al.
Kidney International, 2016
The FGF23/Klotho axis in the regulation of mineral and metabolic homeostasis.
Kawai M
Hormone Molecular Biology and Clinical Investigation, 2016
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
Palmoplantar Pustular Psoriasis Is Associated with Missense Variants in CARD14, but Not with Loss-of-Function Mutations in IL36RN in European Patients.
Mössner R et al.
The Journal of Investigative Dermatology, 2015
Development of A Cell-Based Assay to Identify Small Molecule Inhibitors of FGF23 Signaling.
Diener S et al.
Assay and Drug Development Technologies, 2015
Iron Supplementation Associated With Loss of Phenotype in Autosomal Dominant Hypophosphatemic Rickets.
Kapelari K et al.
The Journal of Clinical Endocrinology and Metabolism, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
FGF23 is endogenously phosphorylated in bone cells.
Lindberg I et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2015
Genetic rescue of glycosylation-deficient Fgf23 in the Galnt3 knockout mouse.
Ichikawa S et al.
Endocrinology, 2014
Genetic diseases of renal phosphate handling.
Wagner CA et al.
Nephrology, Dialysis, Transplantation : Official Publication of the European Dialysis and Transplant Association - European Renal Association, 2014
Elevated fibroblast growth factor 23 exerts its effects on placenta and regulates vitamin D metabolism in pregnancy of Hyp mice.
Ohata Y et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2014
Coupling fibroblast growth factor 23 production and cleavage: iron deficiency, rickets, and kidney disease.
Wolf M et al.
Current Opinion in Nephrology and Hypertension, 2014
Neonatal iron deficiency causes abnormal phosphate metabolism by elevating FGF23 in normal and ADHR mice.
Clinkenbeard EL et al.
Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2014
Reduced renal α-Klotho expression in CKD patients and its effect on renal phosphate handling and vitamin D metabolism.
Sakan H et al.
Plos One, 2014
Osteocyte regulation of phosphate homeostasis and bone mineralization underlies the pathophysiology of the heritable disorders of rickets and osteomalacia.
Feng JQ et al.
Bone, 2013
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 deficiency drives an autosomal dominant hypophosphatemic rickets (ADHR) phenotype in fibroblast growth factor-23 (Fgf23) knock-in mice.
Farrow EG et al.
Proceedings of the National Academy of Sciences of the United States of America, 2011
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