A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2).
about
Protein-mediated enamel mineralizationStress response pathways in ameloblasts: implications for amelogenesis and dental fluorosisHuman and mouse enamel phenotypes resulting from mutation or altered expression of AMEL, ENAM, MMP20 and KLK4The molecular etiologies and associated phenotypes of amelogenesis imperfectaAmelogenesis imperfecta in a new animal model--a mutation in chromosome 5 (human 4q21)Novel genetic linkage of rat Sp6 mutation to Amelogenesis imperfectaEvolutionary adaptations to dietary changesDental enamel development: proteinases and their enamel matrix substratesBodyweight assessment of enamelin null miceCell proliferation and apoptosis in enamelin null miceTarget gene analyses of 39 amelogenesis imperfecta kindredsENAM Mutations in Autosomal-dominant Amelogenesis ImperfectaEnamelin and autosomal-dominant amelogenesis imperfecta.Amelogenesis imperfecta caused by N-terminal enamelin point mutations in mice and men is driven by endoplasmic reticulum stress.Targeted expression of csCSF-1 in op/op mice ameliorates tooth defectsMorphological and molecular evidence for a stepwise evolutionary transition from teeth to baleen in mysticete whales.Amelogenesis imperfecta due to a mutation of the enamelin gene: clinical case with genotype-phenotype correlations.Genes and related proteins involved in amelogenesis imperfecta.Exclusion of p63 as a candidate gene for autosomal-dominant amelogenesis imperfecta.Amelogenesis imperfectaCharacterization of periodontal structures of enamelin-null mice.ENAM mutations with incomplete penetrance.MMP20 active-site mutation in hypomaturation amelogenesis imperfectaBmp2 deletion causes an amelogenesis imperfecta phenotype via regulating enamel gene expressionTooth developmental biology: disruptions to enamel-matrix assembly and its impact on biomineralization.Review: extracellular matrix regulates tooth morphogenesis.Dietary change and adaptive evolution of enamelin in humans and among primates.Common mechanisms in development and disease: BMP signaling in craniofacial development.Developmental biology and genetics of dental malformations.Enamel formation and amelogenesis imperfecta.Human enamel thickness and ENAM polymorphism.Phenotype of ENAM mutations is dosage-dependentMultilevel complex interactions between genetic, epigenetic and environmental factors in the aetiology of anomalies of dental development.MiR-153 Regulates Amelogenesis by Targeting Endocytotic and Endosomal/lysosomal Pathways-Novel Insight into the Origins of Enamel Pathologies.The genetics of amelogenesis imperfecta: a review of the literature.Defining a new candidate gene for amelogenesis imperfecta: from molecular genetics to biochemistry.Genetic basis for tooth malformations: from mice to men and back again.Amelogenesis imperfecta: an introduction.Diseases of the tooth: the genetic and molecular basis of inherited anomalies affecting the dentition.Deletion of Slc26a1 and Slc26a7 Delays Enamel Mineralization in Mice.
P2860
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P2860
A nonsense mutation in the enamelin gene causes local hypoplastic autosomal dominant amelogenesis imperfecta (AIH2).
description
2002 nî lūn-bûn
@nan
2002 թուականի Մայիսին հրատարակուած գիտական յօդուած
@hyw
2002 թվականի մայիսին հրատարակված գիտական հոդված
@hy
2002年の論文
@ja
2002年論文
@yue
2002年論文
@zh-hant
2002年論文
@zh-hk
2002年論文
@zh-mo
2002年論文
@zh-tw
2002年论文
@wuu
name
A nonsense mutation in the ena ...... melogenesis imperfecta (AIH2).
@ast
A nonsense mutation in the ena ...... melogenesis imperfecta (AIH2).
@en
A nonsense mutation in the ena ...... minant amelogenesis imperfecta
@nl
type
label
A nonsense mutation in the ena ...... melogenesis imperfecta (AIH2).
@ast
A nonsense mutation in the ena ...... melogenesis imperfecta (AIH2).
@en
A nonsense mutation in the ena ...... minant amelogenesis imperfecta
@nl
prefLabel
A nonsense mutation in the ena ...... melogenesis imperfecta (AIH2).
@ast
A nonsense mutation in the ena ...... melogenesis imperfecta (AIH2).
@en
A nonsense mutation in the ena ...... minant amelogenesis imperfecta
@nl
P2093
P356
P1476
A nonsense mutation in the ena ...... melogenesis imperfecta (AIH2).
@en
P2093
Birgitta Bäckman
Carina K Mårdh
Gösta Holmgren
James P Simmer
Jan C-C Hu
Kristina Forsman-Semb
P304
P356
10.1093/HMG/11.9.1069
P577
2002-05-01T00:00:00Z