Associated Papers
Identification of Novel Risk Variants of Non-Syndromic Cleft Palate by Targeted Gene Panel Sequencing.
Dąbrowska J et al.
Journal of Clinical Medicine, 2023
A novel FGF23 mutation in hyperphosphatemic familial tumoral calcinosis and its deleterious effect on protein O-glycosylation.
Zuo Q et al.
Frontiers in Endocrinology, 2022
Congenital Hyperphosphatemic Conditions Caused by the Deficient Activity of FGF23.
Ito N et al.
Calcified Tissue International, 2021
Systematic analysis of the intersection of disease mutations with protein modifications.
Simpson CM et al.
Bmc Medical Genomics, 2019
Hyperphosphatemic tumoral calcinosis caused by FGF23 compound heterozygous mutations: what are the therapeutic options for a better control of phosphatemia?
Claramunt-Taberner D et al.
Pediatric Nephrology (berlin, Germany), 2018
Biology of Fibroblast Growth Factor 23: From Physiology to Pathology.
Courbebaisse M et al.
Cold Spring Harbor Perspectives in Medicine, 2018
FGF23-S129F mutant bypasses ER/Golgi to the circulation of hyperphosphatemic familial tumoral calcinosis patients.
Shawar SM et al.
Bone, 2016
Combined sequence and sequence-structure based methods for analyzing FGF23, CYP24A1 and VDR genes.
Nagamani S et al.
Meta Gene, 2016
GESPA: classifying nsSNPs to predict disease association.
Khurana JK et al.
Bmc Bioinformatics, 2015
MitoFates: improved prediction of mitochondrial targeting sequences and their cleavage sites.
Fukasawa Y et al.
Molecular & Cellular Proteomics : Mcp, 2015
Long-term clinical outcome and phenotypic variability in hyperphosphatemic familial tumoral calcinosis and hyperphosphatemic hyperostosis syndrome caused by a novel GALNT3 mutation; case report and review of the literature.
Rafaelsen S et al.
Bmc Genetics, 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
FGF23 and syndromes of abnormal renal phosphate handling.
Bergwitz C et al.
Advances in Experimental Medicine and Biology, 2012
A mouse with an N-Ethyl-N-nitrosourea (ENU) Induced Trp589Arg Galnt3 mutation represents a model for hyperphosphataemic familial tumoural calcinosis.
Esapa CT et al.
Plos One, 2012
Miscellaneous non-inflammatory musculoskeletal conditions. Hyperphosphatemic familial tumoral calcinosis (FGF23, GALNT3 and αKlotho).
Farrow EG et al.
Best Practice & Research. Clinical Rheumatology, 2011
Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations.
Ichikawa S et al.
American Journal of Medical Genetics. Part A, 2010
Defective O-glycosylation due to a novel homozygous S129P mutation is associated with lack of fibroblast growth factor 23 secretion and tumoral calcinosis.
Bergwitz C et al.
The Journal of Clinical Endocrinology and Metabolism, 2009
Familial tumoral calcinosis and the role of O-glycosylation in the maintenance of phosphate homeostasis.
Chefetz I et al.
Biochimica Et Biophysica Acta, 2009
Molecular pathology of the fibroblast growth factor family.
Krejci P et al.
Human Mutation, 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
Tumoral calcinosis: new insights for the rheumatologist into a familial crystal deposition disease.
Sprecher E
Current Rheumatology Reports, 2007
The role of mutant UDP-N-acetyl-alpha-D-galactosamine-polypeptide N-acetylgalactosaminyltransferase 3 in regulating serum intact fibroblast growth factor 23 and matrix extracellular phosphoglycoprotein in heritable tumoral calcinosis.
Garringer HJ et al.
The Journal of Clinical Endocrinology and Metabolism, 2006
[Familial tumoral calcinosis with hyperphosphatemia is heterogeneous and associated with mutations in GALNT3 or FGF-23].
Dereure O
Annales De Dermatologie Et De Venereologie, 2006
A novel homozygous missense mutation in FGF23 causes Familial Tumoral Calcinosis associated with disseminated visceral calcification.
Chefetz I et al.
Human Genetics, 2005
A novel mutation in fibroblast growth factor 23 gene as a cause of tumoral calcinosis.
Araya K et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
Fibroblast growth factor-23 mutants causing familial tumoral calcinosis are differentially processed.
Larsson T et al.
Endocrinology, 2005
Recent findings in phosphate homeostasis.
Prié D et al.
Current Opinion in Nephrology and Hypertension, 2005
A novel recessive mutation in fibroblast growth factor-23 causes familial tumoral calcinosis.
Larsson T et al.
The Journal of Clinical Endocrinology and Metabolism, 2005
An FGF23 missense mutation causes familial tumoral calcinosis with hyperphosphatemia.
Benet-Pagès A et al.
Human Molecular Genetics, 2005