A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia
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Porcine dentin sialoprotein glycosylation and glycosaminoglycan attachmentsA novel splicing mutation alters DSPP transcription and leads to dentinogenesis imperfecta type II.Enamel malformations associated with a defined dentin sialophosphoprotein mutation in two families.Dspp mutations disrupt mineralization homeostasis during odontoblast differentiation.Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar.A DSPP mutation causing dentinogenesis imperfecta and characterization of the mutational effect.Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification.Phenotype and genotype analyses in seven families with dentinogenesis imperfecta or dentin dysplasia.Rough endoplasmic reticulum trafficking errors by different classes of mutant dentin sialophosphoprotein (DSPP) cause dominant negative effects in both dentinogenesis imperfecta and dentin dysplasia by entrapping normal DSPP.Efficient trafficking of acidic proteins out of the endoplasmic reticulum involves a conserved amino terminal IleProVal (IPV)-like tripeptide motif.Novel dentin phosphoprotein frameshift mutations in dentinogenesis imperfecta type II.Functional splicing assay of DSPP mutations in hereditary dentin defects.Identification of the DSPP mutation in a new kindred and phenotype-genotype correlation.
P2860
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P2860
A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia
description
article científic
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article scientifique
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articolo scientifico
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artigo científico
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bilimsel makale
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scientific article published on 26 September 2008
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vedecký článok
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vetenskaplig artikel
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videnskabelig artikel
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vědecký článek
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name
A dentin sialophosphoprotein m ...... auses type II dentin dysplasia
@en
A dentin sialophosphoprotein m ...... uses type II dentin dysplasia.
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type
label
A dentin sialophosphoprotein m ...... auses type II dentin dysplasia
@en
A dentin sialophosphoprotein m ...... uses type II dentin dysplasia.
@nl
prefLabel
A dentin sialophosphoprotein m ...... auses type II dentin dysplasia
@en
A dentin sialophosphoprotein m ...... uses type II dentin dysplasia.
@nl
P2093
P2860
P1476
A dentin sialophosphoprotein m ...... auses type II dentin dysplasia
@en
P2093
James P Simmer
Jan C-C Hu
Jung-Wook Kim
Kyung-Eun Lee
Sook-Kyung Lee
P2860
P304
P356
10.1016/J.JOEN.2008.08.027
P407
P577
2008-09-26T00:00:00Z