Associated Papers
FGF23-S129F mutant bypasses ER/Golgi to the circulation of hyperphosphatemic familial tumoral calcinosis patients.
Shawar SM et al.
Bone, 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
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
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
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
A novel GALNT3 mutation in a pseudoautosomal dominant form of tumoral calcinosis: evidence that the disorder is autosomal recessive.
Ichikawa S 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