Varaico: Literature-Extracted Genetic Variants

Gene:FGF23
Variant:p.R176Q
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FGF23

NM_020638.3:p.R176Q

Associated Papers

The renal response to FGF23 shifts from phosphaturia toward inflammation in kidney disease.

Moor MB et al.

Journal of Cell Communication and Signaling, 2026

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

Hypophosphatemic rickets and short stature.

Davis K et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2024

Bone characteristics of autosomal dominant hypophosphatemic rickets patients.

Liu C et al.

Bone, 2023

Advances in understanding of phosphate homeostasis and related disorders.

Michigami T

Endocrine Journal, 2022

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _D__Lit-SI_disMut_edgotypes

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

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

New Therapies for Hypophosphatemia-Related to FGF23 Excess.

Athonvarangkul D et al.

Calcified Tissue International, 2021

In Vivo Analysis of the Contribution of Proprotein Convertases to the Processing of FGF23.

Al Rifai O et al.

Frontiers in Endocrinology, 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

36303776 (PubMed )
Supplement: Table2.XLSX › _D__Lit-SI_pathMt_edgotype

Genomic profiling reveals high frequency of DNA repair genetic aberrations in gallbladder cancer.

Abdel-Wahab R et al.

Scientific Reports, 2020

33328484 (PubMed )
Supplement: 41598_2020_77939_MOESM1_ESM.xlsx › Sheet1

Molecular basis for fibroblast growth factor 23 O-glycosylation by GalNAc-T3.

de Las Rivas M et al.

Nature Chemical Biology, 2020

Oral Iron Replacement Normalizes Fibroblast Growth Factor 23 in Iron-Deficient Patients With 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, 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

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut

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

Regulation of Fibroblast Growth Factor 23 by Iron, EPO, and HIF.

Wheeler JA et al.

Current Molecular Biology Reports, 2019

Autosomal Dominant Hypophosphatemic Rickets Presenting in a Phenotypically Normal Adult Female.

Mualla H et al.

Case Reports in Endocrinology, 2019

Autoimmune hyperphosphatemic tumoral calcinosis in a patient with FGF23 autoantibodies.

Roberts MS et al.

The Journal of Clinical Investigation, 2018

Genetic Variants Associated with Circulating Fibroblast Growth Factor 23.

Robinson-Cohen C et al.

Journal of the American Society of Nephrology : Jasn, 2018

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

29342138 (PubMed )
Supplement: NIHMS927628-supplement-Supplementary_Table_1.pdf

Heritable and acquired disorders of phosphate metabolism: Etiologies involving FGF23 and current therapeutics.

Clinkenbeard EL et al.

Bone, 2017

The metabolic bone disease associated with the Hyp mutation is independent of osteoblastic HIF1α expression.

Hum JM et al.

Bone Reports, 2017

FGF23-S129F mutant bypasses ER/Golgi to the circulation of hyperphosphatemic familial tumoral calcinosis patients.

Shawar SM et al.

Bone, 2016

The FGF23/Klotho axis in the regulation of mineral and metabolic homeostasis.

Kawai M

Hormone Molecular Biology and Clinical Investigation, 2016

Fibroblast growth factor 23 signaling in hippocampal cells: impact on neuronal morphology and synaptic density.

Hensel N et al.

Journal of Neurochemistry, 2016

Enhanced FGF23 production in mice expressing PI3K-insensitive GSK3 is normalized by β-blocker treatment.

Fajol A et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2016

Pruning the ricket thicket.

David V et al.

The Journal of Clinical Investigation, 2016

CYP24 inhibition as a therapeutic target in FGF23-mediated renal phosphate wasting disorders.

Bai X et al.

The Journal of 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

A new role for sphingosine: Up-regulation of Fam20C, the genuine casein kinase that phosphorylates secreted proteins.

Cozza G 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

25670805 (PubMed )
Supplement: supp_M114.043083_mcp.M114.043083-16.xlsx › TableS9B

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

FGF23 gene variation and its association with phosphate homeostasis and bone mineral density in Finnish children and adolescents.

Pekkinen M et al.

Bone, 2015

Genetic rescue of glycosylation-deficient Fgf23 in the Galnt3 knockout mouse.

Ichikawa S et al.

Endocrinology, 2014

Proteome-wide analysis of human disease mutations in short linear motifs: neglected players in cancer?

Uyar B et al.

Molecular Biosystems, 2014

25057855 (PubMed )
Supplement: MB-010-C4mb00290c-s003.zip › Supplementary_file_22.xlsx › pred.omim12.cos1_-_DONE

Hypophosphatemic rickets: revealing novel control points for phosphate homeostasis.

White KE et al.

Current Osteoporosis Reports, 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

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."