Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations
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Crystal structure of the Golgi casein kinaseA secretory kinase complex regulates extracellular protein phosphorylationGingival fibromatosis: clinical, molecular and therapeutic issuesThe secretory pathway kinasesStructure 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 mutationsMutations in SLC34A3/NPT2c are associated with kidney stones and nephrocalcinosis.Exploring the genetic basis of early-onset chronic kidney disease.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 imperfectaInvited commentary: The need for human genetics and genomics in dental school curricula.FAM20A binds to and regulates FAM20C localizationLoss of epithelial FAM20A in mice causes amelogenesis imperfecta, tooth eruption delay and gingival overgrowthFAM20A mutations associated with enamel renal syndrome.Phosphorylation of substrates destined for secretion by the Fam20 kinases.Casein kinase: the triple meaning of a misnomer.Genetic, pathophysiological, and clinical aspects of nephrocalcinosis.Amelogenesis Imperfecta: 1 Family, 2 Phenotypes, and 2 Mutated Genes.Amelogenesis Imperfecta; Genes, Proteins, and Pathways.Amelogenesis imperfecta in familial hypomagnesaemia and hypercalciuria with nephrocalcinosis caused by CLDN19 gene mutations.Analysis of mutations in the SOS-1 gene in two Polish families with hereditary gingival fibromatosis.A distinctive oral phenotype points to FAM20A mutations not identified by Sanger sequencing.Enamel renal syndrome with associated amelogenesis imperfecta, nephrolithiasis, and hypocitraturia: A case report.C-reactive protein upregulates the whole blood expression of CD59 - an integrative analysis.Inactivation of Fam20B in the dental epithelium of mice leads to supernumerary incisors.Amelogenesis imperfecta and nephrocalcinosis syndromePeriodontal disease and FAM20A mutations.Structure and evolution of the Fam20 kinases.Update on Hereditary Kidney Stone Disease and Introduction of a New Clinical Patient Registry in Germany.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
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations
description
2012 nî lūn-bûn
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2012 թուականին հրատարակուած գիտական յօդուած
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2012 թվականին հրատարակված գիտական հոդված
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2012年の論文
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2012年論文
@yue
2012年論文
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2012年論文
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2012年論文
@zh-mo
2012年論文
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2012年论文
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name
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations
@ast
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations
@en
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations
@en-gb
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations
@nl
type
label
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations
@ast
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations
@en
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations
@en-gb
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations
@nl
prefLabel
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations
@ast
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations
@en
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations
@en-gb
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations
@nl
P2093
P2860
P50
P3181
P356
P1154
2-s2.0-84876377978
P1476
Nephrocalcinosis (enamel renal syndrome) caused by autosomal recessive FAM20A mutations
@en
P2093
Alan J Medlar
Alan Mighell
Alexander J Howie
Ana Carolina Acevedo
Arnaud Picard
Audrey Asselin
Aurore Coulomb
Bertrand Isidor
Carolin Sandmann
Cedric Le Caignec
P2860
P3181
P356
10.1159/000349989
P407
P50
P577
2012-01-01T00:00:00Z