about
Crystal structure of the Golgi casein kinaseA secretory kinase complex regulates extracellular protein phosphorylationITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfectaAnalysis of enamel development using murine model systems: approaches and limitationsThe secretory pathway kinasesCritical roles for WDR72 in calcium transport and matrix protein removal during enamel maturationStructure of Fam20A reveals a pseudokinase featuring a unique disulfide pattern and inverted ATP-bindingFAM20A Gene Mutation: Amelogenesis or Ectopic Mineralization?Pathognomonic oral profile of Enamel Renal Syndrome (ERS) caused by recessive FAM20A mutationsHypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation.Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.Novel ITGB6 mutation in autosomal recessive amelogenesis imperfectaNovel KLK4 and MMP20 mutations discovered by whole-exome sequencingFAM20A binds to and regulates FAM20C localizationPhosphorylation of spore coat proteins by a family of atypical protein kinases.Loss 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.Phosphorylation of substrates destined for secretion by the Fam20 kinases.Casein kinase: the triple meaning of a misnomer.Amelogenesis Imperfecta; Genes, Proteins, and Pathways.Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations.A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing.FAM20C functions intracellularly within both ameloblasts and odontoblasts in vivo.A novel de novo mutation in LAMB3 causes localized hypoplastic enamel in the molar region.Periodontal disease and FAM20A mutations.Methods to Purify and Assay Secretory Pathway Kinases.Structure and evolution of the Fam20 kinases.Claudin-16 Deficiency Impairs Tight Junction Function in Ameloblasts, Leading to Abnormal Enamel Formation.Enamel-renal-gingival syndrome and FAM20A mutations.
P2860
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P2860
description
2013 nî lūn-bûn
@nan
2013 թուականի Փետրուարին հրատարակուած գիտական յօդուած
@hyw
2013 թվականի փետրվարին հրատարակված գիտական հոդված
@hy
2013年の論文
@ja
2013年論文
@yue
2013年論文
@zh-hant
2013年論文
@zh-hk
2013年論文
@zh-mo
2013年論文
@zh-tw
2013年论文
@wuu
name
FAM20A mutations can cause enamel-renal syndrome (ERS)
@nl
FAM20A mutations can cause enamel-renal syndrome (ERS).
@ast
FAM20A mutations can cause enamel-renal syndrome (ERS).
@en
FAM20A mutations can cause enamel-renal syndrome (ERS).
@en-gb
type
label
FAM20A mutations can cause enamel-renal syndrome (ERS)
@nl
FAM20A mutations can cause enamel-renal syndrome (ERS).
@ast
FAM20A mutations can cause enamel-renal syndrome (ERS).
@en
FAM20A mutations can cause enamel-renal syndrome (ERS).
@en-gb
altLabel
FAM20A Mutations Can Cause Enamel-Renal Syndrome (ERS)
@en
prefLabel
FAM20A mutations can cause enamel-renal syndrome (ERS)
@nl
FAM20A mutations can cause enamel-renal syndrome (ERS).
@ast
FAM20A mutations can cause enamel-renal syndrome (ERS).
@en
FAM20A mutations can cause enamel-renal syndrome (ERS).
@en-gb
P2093
P2860
P921
P3181
P1433
P1476
FAM20A mutations can cause enamel-renal syndrome (ERS).
@en
P2093
Hinda Daggag
James P Simmer
Jan C-C Hu
Mohammad El-Khateeb
Parissa Aref
Rachel N Milkovich
Yuanyuan Hu
Zaid H Baqain
P2860
P304
P3181
P356
10.1371/JOURNAL.PGEN.1003302
P407
P577
2013-02-28T00:00:00Z