Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification.
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Crystal structure of the Golgi casein kinaseA secretory kinase complex regulates extracellular protein phosphorylationFGF23 and Phosphate Wasting DisordersFibrous dysplasia and fibroblast growth factor-23 regulationDysregulated gene expression in the primary osteoblasts and osteocytes isolated from hypophosphatemic Hyp miceA unified model for bone-renal mineral and energy metabolismThe secretory pathway kinasesPHEX mimetic (SPR4-peptide) corrects and improves HYP and wild type mice energy-metabolismStructure of Fam20A reveals a pseudokinase featuring a unique disulfide pattern and inverted ATP-bindingHypophosphatemic rickets: revealing novel control points for phosphate homeostasis.Dual role of the Trps1 transcription factor in dentin mineralization.The specific role of FAM20C in dentinogenesis.Inactivation of Fam20C in cells expressing type I collagen causes periodontal disease in mice.SPR4-peptide alters bone metabolism of normal and HYP mice.Dynamic regulation of FGF23 by Fam20C phosphorylation, GalNAc-T3 glycosylation, and furin proteolysisVariability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.Dspp-independent Effects of Transgenic Trps1 Overexpression on Dentin FormationMolecular Characterization of Three Canine Models of Human Rare Bone Diseases: Caffey, van den Ende-Gupta, and Raine Syndromes.Hereditary hypophosphatemia in Norway: a retrospective population-based study of genotypes, phenotypes, and treatment complications.FGF23 is endogenously phosphorylated in bone cells.Systemic Control of Bone Homeostasis by FGF23 Signaling.FAM20A binds to and regulates FAM20C localizationMultilineage somatic activating mutations in HRAS and NRAS cause mosaic cutaneous and skeletal lesions, elevated FGF23 and hypophosphatemia.The rachitic tooth.Therapeutic management of hypophosphatemic rickets from infancy to adulthood.Phosphorylation of substrates destined for secretion by the Fam20 kinases.Casein kinase: the triple meaning of a misnomer.Diagnostic Modalities for FGF23-Producing Tumors in Patients with Tumor-Induced OsteomalaciaHypophosphatemic rickets: lessons from disrupted FGF23 control of phosphorus homeostasis.Review of the dental implications of X-linked hypophosphataemic rickets (XLHR).Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660).Systematic network-based discovery of a Fam20C inhibitor (FL-1607) with apoptosis modulation in triple-negative breast cancer.Casein kinases as potential therapeutic targets.Heritable and acquired disorders of phosphate metabolism: Etiologies involving FGF23 and current therapeutics.Characterization of Fam20C expression in odontogenesis and osteogenesis using transgenic mice.Canine models of human rare disordersPhosphorylation of serine96 of histidine-rich calcium-binding protein by the Fam20C kinase functions to prevent cardiac arrhythmia.Phosphate metabolism and vitamin D.Genetic Knockout and Rescue Studies in Mice Unravel Abnormal Phosphorus Threshold in Hypophosphatemic Rickets.FAM20C regulates osteoblast behaviors and intracellular signaling pathways in a cell-autonomous manner.
P2860
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P2860
Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification.
description
2013 nî lūn-bûn
@nan
2013年の論文
@ja
2013年学术文章
@wuu
2013年学术文章
@zh-cn
2013年学术文章
@zh-hans
2013年学术文章
@zh-my
2013年学术文章
@zh-sg
2013年學術文章
@yue
2013年學術文章
@zh
2013年學術文章
@zh-hant
name
Exome sequencing reveals FAM20 ...... es, and ectopic calcification.
@en
Exome sequencing reveals FAM20 ...... es, and ectopic calcification.
@nl
type
label
Exome sequencing reveals FAM20 ...... es, and ectopic calcification.
@en
Exome sequencing reveals FAM20 ...... es, and ectopic calcification.
@nl
prefLabel
Exome sequencing reveals FAM20 ...... es, and ectopic calcification.
@en
Exome sequencing reveals FAM20 ...... es, and ectopic calcification.
@nl
P2093
P2860
P356
P1476
Exome sequencing reveals FAM20 ...... es, and ectopic calcification.
@en
P2093
Anne Kristine Fagerheim
Helge Raeder
Per Knappskog
Silje Hjorth Rafaelsen
Thomas O Carpenter
P2860
P304
P356
10.1002/JBMR.1850
P577
2013-06-01T00:00:00Z