Phenotypes and genotypes in 2 DGI families with different DSPP mutations.

scientific article published on 16 June 2006

Phenotypes and genotypes in 2 DGI families with different DSPP mutations. is …
instance of (P31):
scholarly articleQ13442814

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P356DOI10.1016/J.TRIPLEO.2005.06.020
P8608Fatcat IDrelease_ydbyvllmarcr5frmlpmpjqv3du
P698PubMed publication ID16920545
P5875ResearchGate publication ID6866740

P50authorYaling SongQ80141461
P2093author name stringBin Peng
Qiang Fu
Mingwen Fan
Zhuan Bian
Changning Wang
Xiaoqian Ye
Gaofeng Zhao
P2860cites workHuman dentin phosphophoryn nucleotide and amino acid sequenceQ22008632
Dentin phosphoprotein and dentin sialoprotein are cleavage products expressed from a single transcript coded by a gene on human chromosome 4. Dentin phosphoprotein DNA sequence determinationQ24312880
DSPP mutation in dentinogenesis imperfecta Shields type IIQ28200045
Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPPQ28200065
Dentin sialoprotein, dentin phosphoprotein, enamelysin and ameloblastin: tooth-specific molecules that are distinctively expressed during murine dental differentiationQ28593089
A proposed classification for heritable human dentine defects with a description of a new entityQ34699098
Scanning electron microscopy of teeth in osteogenesis imperfecta type I.Q36810612
Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II.Q38515714
Dentinogenesis imperfecta in the Brandywine isolate (DI type III): clinical, radiologic, and scanning electron microscopic studies of the dentitionQ41584159
Intrafibrillar mineral may be absent in dentinogenesis imperfecta type II (DI-II).Q43617166
Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralizationQ44159131
Dentin sialophosphoprotein knockout mouse teeth display widened predentin zone and develop defective dentin mineralization similar to human dentinogenesis imperfecta type III.Q46287190
Mineralization of collagen may occur on fibril surfaces: evidence from conventional and high-voltage electron microscopy and three-dimensional imagingQ46293429
Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II.Q47221692
A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II.Q47228958
Dentin phosphoprotein compound mutation in dentin sialophosphoprotein causes dentinogenesis imperfecta type III.Q54440493
Human dentine as a hydrogelQ71159774
Peritubular dentin formation: crystal organization and the macromolecular constituents in human teethQ77754406
Refinement of the dentinogenesis imperfecta type II locus to an interval of less than 2 centiMorgans at chromosome 4q21 and the creation of a yeast artificial chromosome contig of the critical regionQ77889388
Genetic linkage of the dentinogenesis imperfecta type III locus to chromosome 4qQ77889391
P433issue3
P304page(s)360-374
P577publication date2006-06-16
P1433published inOral Surgery Oral Medicine Oral Pathology Oral Radiology and EndodonticsQ15763254
P1476titlePhenotypes and genotypes in 2 DGI families with different DSPP mutations
P478volume102

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cites work (P2860)
Q36665293A DSPP mutation causing dentinogenesis imperfecta and characterization of the mutational effect.
Q41172686A comprehensive analysis of normal variation and disease-causing mutations in the human DSPP gene
Q37391232A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia
Q33530548A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family
Q21261443A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family
Q37326124A novel POLH mutation causes XP-V disease and XP-V tumor proneness may involve imbalance of numerous DNA polymerases.
Q46170833A novel mutation in the DSPP gene associated with dentinogenesis imperfecta type II.
Q34085851A novel splicing mutation alters DSPP transcription and leads to dentinogenesis imperfecta type II.
Q41909078DMP1 C-terminal mutant mice recapture the human ARHR tooth phenotype
Q37640900Dentin Sialoprotein is a Novel Substrate of Matrix Metalloproteinase 9 in vitro and in vivo.
Q35875304Dentin dysplasia type I-novel findings in deciduous and permanent teeth
Q33670957Dentin sialoprotein facilitates dental mesenchymal cell differentiation and dentin formation
Q36637825Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar
Q36197243Disorders of human dentin
Q36420274Dspp mutations disrupt mineralization homeostasis during odontoblast differentiation
Q35697998Enamel malformations associated with a defined dentin sialophosphoprotein mutation in two families.
Q46379662Functional splicing assay of DSPP mutations in hereditary dentin defects
Q37330583Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia
Q38239448Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification
Q83396525Mutation identification of the DSPP in a Chinese family with DGI-II and an up-to-date bioinformatic analysis
Q40428302Phenotype and genotype analyses in seven families with dentinogenesis imperfecta or dentin dysplasia
Q37146131Porcine dentin sialophosphoprotein: length polymorphisms, glycosylation, phosphorylation, and stability
Q58769725Whole exome sequencing identifies an AMBN missense mutation causing severe autosomal-dominant amelogenesis imperfecta and dentin disorders

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