AbstractFamilial tumoral calcinosis refers to a group of disorders inherited in an autosomal recessive fashion. Hyperphosphatemic tumoral calcinosis is characterized by increased re-absorption of phosphate through the renal proximal tubule, resulting in elevated phosphate concentration and deposition of calcified deposits in cutaneous and subcutaneous tissues, as well as, occasionally, in visceral organs. The disease was found to result from mutations in at least 3 genes: GALNT3, encoding a glycosyltransferase termed ppGalNacT3, FGF23 encoding a potent phosphaturic protein, and KL encoding Klotho. Recent data showed that ppGalNacT3 mediates O-glycosylation of FGF23, thereby allowing for its secretion and possibly protecting it from proteoly...
Hyperphosphatemic familial tumoral calcinosis (HFTC) is an extremely rare autosomal recessive disord...
Mutations in the gene encoding the glycosyltransferase polypeptide GalNAc-T3, which is involved in i...
Our understanding of the regulation of phosphate balance has benefited tremendously from the molecul...
AbstractFamilial tumoral calcinosis refers to a group of disorders inherited in an autosomal recessi...
Familial tumoral calcinosis (FTC) refers to a heterogeneous group of inherited disorders characteriz...
Familial tumoral calcinosis (FTC) is an autosomal recessive disorder characterized by ectopic calcif...
PubMedID: 30015621Inactivating autosomal recessive mutations in fibroblast growth factor 23 (FGF23),...
Familial tumoral calcinosis (FTC) is an autosomal recessive disorder characterized by ectopic calcif...
Tumoral calcinosis (TC) is a rare genetic disorder characterized by periarticular cystic and solid t...
The regulation of phosphate metabolism is a complex process that is still only partly understood. At...
Ectopic periarticular calcifications associated with elevated levels of serum phosphate represent th...
Background: Hyperphosphatemic Familial Tumoral Calcinosis (HFTC) and Hyperphosphatemic Hyperostosis ...
Tumoral calcinosis is a rare disease characterized by hyperphosphatemia due to hypophosphaturia and ...
Inactivating autosomal recessive mutations in fibroblast growth factor 23 (FGF23), klotho (KL) and p...
Aim: Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare endocrine disorder caused by aut...
Hyperphosphatemic familial tumoral calcinosis (HFTC) is an extremely rare autosomal recessive disord...
Mutations in the gene encoding the glycosyltransferase polypeptide GalNAc-T3, which is involved in i...
Our understanding of the regulation of phosphate balance has benefited tremendously from the molecul...
AbstractFamilial tumoral calcinosis refers to a group of disorders inherited in an autosomal recessi...
Familial tumoral calcinosis (FTC) refers to a heterogeneous group of inherited disorders characteriz...
Familial tumoral calcinosis (FTC) is an autosomal recessive disorder characterized by ectopic calcif...
PubMedID: 30015621Inactivating autosomal recessive mutations in fibroblast growth factor 23 (FGF23),...
Familial tumoral calcinosis (FTC) is an autosomal recessive disorder characterized by ectopic calcif...
Tumoral calcinosis (TC) is a rare genetic disorder characterized by periarticular cystic and solid t...
The regulation of phosphate metabolism is a complex process that is still only partly understood. At...
Ectopic periarticular calcifications associated with elevated levels of serum phosphate represent th...
Background: Hyperphosphatemic Familial Tumoral Calcinosis (HFTC) and Hyperphosphatemic Hyperostosis ...
Tumoral calcinosis is a rare disease characterized by hyperphosphatemia due to hypophosphaturia and ...
Inactivating autosomal recessive mutations in fibroblast growth factor 23 (FGF23), klotho (KL) and p...
Aim: Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare endocrine disorder caused by aut...
Hyperphosphatemic familial tumoral calcinosis (HFTC) is an extremely rare autosomal recessive disord...
Mutations in the gene encoding the glycosyltransferase polypeptide GalNAc-T3, which is involved in i...
Our understanding of the regulation of phosphate balance has benefited tremendously from the molecul...