Amelogenesis imperfecta and other biomineralization defects in Fam20a and Fam20c null mice
about
FAM20A mutations can cause enamel-renal syndrome (ERS).Autosomal recessive gingival hyperplasia and dental anomalies caused by a 29-base pair duplication in the FAM20A geneCrystal structure of the Golgi casein kinaseNephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutationsA secretory kinase complex regulates extracellular protein phosphorylationSecreted protein kinasesA unified model for bone-renal mineral and energy metabolismThe secretory pathway kinasesXylose phosphorylation functions as a molecular switch to regulate proteoglycan biosynthesisPregnane X receptor knockout mice display aging-dependent wearing of articular cartilagePHEX mimetic (SPR4-peptide) corrects and improves HYP and wild type mice energy-metabolismFAM20A Gene Mutation: Amelogenesis or Ectopic Mineralization?Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutationsSystematic screening for skin, hair, and nail abnormalities in a large-scale knockout mouse program.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.High-throughput screening of mouse gene knockouts identifies established and novel skeletal phenotypes.Systemic Control of Bone Homeostasis by FGF23 Signaling.FAM20A binds to and regulates FAM20C localizationLoss of epithelial FAM20A in mice causes amelogenesis imperfecta, tooth eruption delay and gingival overgrowthInactivation of Fam20B in Joint Cartilage Leads to Chondrosarcoma and Postnatal Ossification Defects.FAM20A mutations associated with enamel renal syndrome.The rachitic tooth.Mouse genome-wide association study identifies polymorphisms on chromosomes 4, 11, and 15 for age-related cardiac fibrosis.Phosphorylation of substrates destined for secretion by the Fam20 kinases.Casein kinase: the triple meaning of a misnomer.Raine Syndrome (OMIM #259775), Caused By FAM20C Mutation, Is Congenital Sclerosing Osteomalacia With Cerebral Calcification (OMIM 259660).Fam20C is under the control of sphingolipid signaling in human cell lines.Amelogenesis Imperfecta; Genes, Proteins, and Pathways.Inactivation of Fam20B in the dental epithelium of mice leads to supernumerary incisors.Periodontal disease and FAM20A mutations.Methods to Purify and Assay Secretory Pathway Kinases.Structure and evolution of the Fam20 kinases.Nephronophthisis and retinal degeneration in tmem218-/- mice: a novel mouse model for Senior-Løken syndrome?Dentin Dysplasia in Notum Knockout Mice.Exome sequencing reveals FAM20c mutations associated with fibroblast growth factor 23-related hypophosphatemia, dental anomalies, and ectopic calcification.Enamel-renal-gingival syndrome and FAM20A mutations.
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P2860
Amelogenesis imperfecta and other biomineralization defects in Fam20a and Fam20c null mice
description
2012 թուականի Նոյեմբերին հրատարակուած գիտական յօդուած
@hyw
2012 թվականի նոյեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2012
@ast
im November 2012 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
@en
vedecký článok (publikovaný 2012/11/01)
@sk
vědecký článek publikovaný v roce 2012
@cs
wetenschappelijk artikel (gepubliceerd op 2012/11/01)
@nl
наукова стаття, опублікована в листопаді 2012
@uk
مقالة علمية (نشرت في نوفمبر 2012)
@ar
name
Amelogenesis imperfecta and ot ...... in Fam20a and Fam20c null mice
@ast
Amelogenesis imperfecta and ot ...... in Fam20a and Fam20c null mice
@en
Amelogenesis imperfecta and ot ...... in Fam20a and Fam20c null mice
@nl
type
label
Amelogenesis imperfecta and ot ...... in Fam20a and Fam20c null mice
@ast
Amelogenesis imperfecta and ot ...... in Fam20a and Fam20c null mice
@en
Amelogenesis imperfecta and ot ...... in Fam20a and Fam20c null mice
@nl
prefLabel
Amelogenesis imperfecta and ot ...... in Fam20a and Fam20c null mice
@ast
Amelogenesis imperfecta and ot ...... in Fam20a and Fam20c null mice
@en
Amelogenesis imperfecta and ot ...... in Fam20a and Fam20c null mice
@nl
P2093
P2860
P921
P3181
P356
P1433
P1476
Amelogenesis imperfecta and ot ...... in Fam20a and Fam20c null mice
@en
P2093
D. D. Smith
G. M. Hansen
R. B. Vance
R. Brommage
R. W. Read
S. Jeter-Jones
T. J. Wronski
P2860
P304
P3181
P356
10.1177/0300985812453177
P577
2012-11-01T00:00:00Z