Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP.

PubWeight™: 2.75‹?› | Rank: Top 1%

🔗 View Article (PMID 11175790)

Published in Nat Genet on February 01, 2001

Authors

S Xiao1, C Yu, X Chou, W Yuan, Y Wang, L Bu, G Fu, M Qian, J Yang, Y Shi, L Hu, B Han, Z Wang, W Huang, J Liu, Z Chen, G Zhao, X Kong

Author Affiliations

1: Shanghai Research Center of Biotechnology, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences, Shanghai 200233, People's Republic of China.

Articles citing this

Spatially and temporally controlled biomineralization is facilitated by interaction between self-assembled dentin matrix protein 1 and calcium phosphate nuclei in solution. Biochemistry (2005) 1.68

Hereditary dentine disorders: dentinogenesis imperfecta and dentine dysplasia. Orphanet J Rare Dis (2008) 1.66

Dentin sialoprotein and dentin phosphoprotein have distinct roles in dentin mineralization. Matrix Biol (2009) 1.64

Runx2, osx, and dspp in tooth development. J Dent Res (2009) 1.47

A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II. Hum Genet (2004) 1.45

Intrinsically disordered and pliable Starmaker-like protein from medaka (Oryzias latipes) controls the formation of calcium carbonate crystals. PLoS One (2014) 1.43

Disorders of human dentin. Cells Tissues Organs (2007) 1.37

Clinical, histopathologic, and genetic investigation in two large families with dentinogenesis imperfecta type II. Hum Genet (2004) 1.30

Dentin sialophosphoprotein in biomineralization. Connect Tissue Res (2010) 1.29

Mutational hot spot in the DSPP gene causing dentinogenesis imperfecta type II. Hum Genet (2004) 1.26

Bone matrix proteins: their function, regulation, and relationship to osteoporosis. Osteoporos Int (2003) 1.23

Distribution of SIBLING proteins in the organic and inorganic phases of rat dentin and bone. Eur J Oral Sci (2008) 1.22

Key proteolytic cleavage site and full-length form of DSPP. J Dent Res (2010) 1.18

Bone morphogenetic protein 2 mediates dentin sialophosphoprotein expression and odontoblast differentiation via NF-Y signaling. J Biol Chem (2008) 1.16

The genetic bases for non-syndromic hearing loss among Chinese. J Hum Genet (2009) 1.11

Porcine dentin sialophosphoprotein: length polymorphisms, glycosylation, phosphorylation, and stability. J Biol Chem (2008) 1.10

Loss of dentin sialophosphoprotein leads to periodontal diseases in mice. J Periodontal Res (2012) 1.05

Glycosaminoglycan chain of dentin sialoprotein proteoglycan. J Dent Res (2010) 1.04

Mimicking the Nanostructure of Bone: Comparison of Polymeric Process-Directing Agents. Polymers (Basel) (2011) 1.03

A dentin sialophosphoprotein mutation that partially disrupts a splice acceptor site causes type II dentin dysplasia. J Endod (2008) 1.03

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. J Bone Miner Res (2012) 1.03

The rescue of dentin matrix protein 1 (DMP1)-deficient tooth defects by the transgenic expression of dentin sialophosphoprotein (DSPP) indicates that DSPP is a downstream effector molecule of DMP1 in dentinogenesis. J Biol Chem (2013) 1.02

A novel DSPP mutation is associated with type II dentinogenesis imperfecta in a Chinese family. BMC Med Genet (2007) 1.02

Expression of dentin sialophosphoprotein in non-mineralized tissues. J Histochem Cytochem (2011) 0.98

Dentin sialophosphoprotein and dentin matrix protein-1: Two highly phosphorylated proteins in mineralized tissues. Arch Oral Biol (2012) 0.96

Specific binding and mineralization of calcified surfaces by small peptides. Calcif Tissue Int (2009) 0.96

A hydrogel scaffold that maintains viability and supports differentiation of dental pulp stem cells. Dent Mater (2012) 0.96

Expression and processing of small integrin-binding ligand N-linked glycoproteins in mouse odontoblastic cells. Arch Oral Biol (2008) 0.95

DSP-PP precursor protein cleavage by tolloid-related-1 protein and by bone morphogenetic protein-1. PLoS One (2012) 0.95

Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21. J Dent Res (2006) 0.95

A novel DSPP mutation causes dentinogenesis imperfecta type II in a large Mongolian family. BMC Med Genet (2010) 0.94

Proteolytic processing of dentin sialophosphoprotein (DSPP) is essential to dentinogenesis. J Biol Chem (2012) 0.94

miR-145 and miR-143 regulate odontoblast differentiation through targeting Klf4 and Osx genes in a feedback loop. J Biol Chem (2013) 0.94

DMP1 C-terminal mutant mice recapture the human ARHR tooth phenotype. J Bone Miner Res (2010) 0.94

A targeted next-generation sequencing assay for the molecular diagnosis of genetic disorders with orodental involvement. J Med Genet (2015) 0.93

Isolated dentinogenesis imperfecta and dentin dysplasia: revision of the classification. Eur J Hum Genet (2014) 0.92

The efficiency of dentin sialoprotein-phosphophoryn processing is affected by mutations both flanking and distant from the cleavage site. J Biol Chem (2013) 0.92

Expression and distribution of SIBLING proteins in the predentin/dentin and mandible of hyp mice. Oral Dis (2010) 0.90

Enamel malformations associated with a defined dentin sialophosphoprotein mutation in two families. Eur J Oral Sci (2011) 0.90

Roles of heparan sulfate sulfation in dentinogenesis. J Biol Chem (2012) 0.89

Partial blocking of mouse DSPP processing by substitution of Gly(451)-Asp(452) bond suggests the presence of secondary cleavage site(s). Connect Tissue Res (2011) 0.89

Dentinogenesis and Dentin Sialophosphoprotein (DSPP). J Oral Biosci (2009) 0.89

Regulation of reactionary dentin formation by odontoblasts in response to polymicrobial invasion of dentin matrix. Bone (2011) 0.87

Domain of dentine sialoprotein mediates proliferation and differentiation of human periodontal ligament stem cells. PLoS One (2013) 0.85

A 6.4 Mb duplication of the α-synuclein locus causing frontotemporal dementia and Parkinsonism: phenotype-genotype correlations. JAMA Neurol (2014) 0.85

Dentin Sialophophoprotein (DSPP) and Dentin. J Oral Biosci (2008) 0.85

Role of the NH2 -terminal fragment of dentin sialophosphoprotein in dentinogenesis. Eur J Oral Sci (2013) 0.85

Porcine dentin sialoprotein glycosylation and glycosaminoglycan attachments. BMC Biochem (2011) 0.84

The genetic basis of dental anomalies and its relation to orthodontics. Eur J Dent (2013) 0.84

Porcine dentin matrix protein 1: gene structure, cDNA sequence, and expression in teeth. Eur J Oral Sci (2006) 0.84

Combined examination of sequence and copy number variations in human deafness genes improves diagnosis for cases of genetic deafness. BMC Ear Nose Throat Disord (2014) 0.83

Biomimetic engineering of nanofibrous gelatin scaffolds with noncollagenous proteins for enhanced bone regeneration. Tissue Eng Part A (2013) 0.83

Tissue-specific expression of dentin sialophosphoprotein (DSPP) and its polymorphisms in mouse tissues. Cell Biol Int (2009) 0.83

Immortalized mouse floxed Bmp2 dental papilla mesenchymal cell lines preserve odontoblastic phenotype and respond to BMP2. J Cell Physiol (2010) 0.83

Soundbites. Nat Genet (2001) 0.83

Targeted expression of csCSF-1 in op/op mice ameliorates tooth defects. Arch Oral Biol (2006) 0.81

Role of estrogen related receptor beta (ESRRB) in DFN35B hearing impairment and dental decay. BMC Med Genet (2014) 0.81

A novel splicing mutation alters DSPP transcription and leads to dentinogenesis imperfecta type II. PLoS One (2011) 0.81

Phenotype characterization and DSPP mutational analysis of three Brazilian dentinogenesis imperfecta type II families. Cells Tissues Organs (2008) 0.80

Increased Young's modulus and hardness of Col1a2oim dentin. J Dent Res (2006) 0.80

Overexpressing the NH2-terminal fragment of dentin sialophosphoprotein (DSPP) aggravates the periodontal defects in Dspp knockout mice. J Oral Biosci (2014) 0.80

Failure to process dentin sialophosphoprotein into fragments leads to periodontal defects in mice. Eur J Oral Sci (2013) 0.79

Deafness mutation mining using regular expression based pattern matching. BMC Med Inform Decis Mak (2007) 0.79

Establishment of Immortalized Mouse Bmp2 Knock-Out Dental Papilla Mesenchymal Cells Necessary for Study of Odontoblastic Differentiation and Odontogenesis. J Cell Physiol (2015) 0.79

Immortalized mouse dental papilla mesenchymal cells preserve odontoblastic phenotype and respond to bone morphogenetic protein 2. In Vitro Cell Dev Biol Anim (2013) 0.79

Immunohistochemical localization of the NH(2)-terminal and COOH-terminal fragments of dentin sialoprotein in mouse teeth. Cell Tissue Res (2012) 0.79

A DSPP mutation causing dentinogenesis imperfecta and characterization of the mutational effect. Biomed Res Int (2012) 0.78

Transgenic expression of Dspp partially rescued the long bone defects of Dmp1-null mice. Matrix Biol (2015) 0.78

N-terminal Dentin Sialoprotein fragment induces type I collagen production and upregulates dentinogenesis marker expression in osteoblasts. Biochem Biophys Rep (2016) 0.77

Localization of a novel autosomal recessive non-syndromic hearing impairment locus DFNB55 to chromosome 4q12-q13.2. Clin Genet (2005) 0.77

Gene evolution and functions of extracellular matrix proteins in teeth. Orthod Waves (2013) 0.77

Genetics of Tinnitus: Still in its Infancy. Front Neurosci (2017) 0.77

The Dentin Sialoprotein (DSP) Domain Regulates Dental Mesenchymal Cell Differentiation through a Novel Surface Receptor. Sci Rep (2016) 0.76

Transgenic expression of dentin phosphoprotein inhibits skeletal development. Eur J Histochem (2016) 0.76

Dspp mutations disrupt mineralization homeostasis during odontoblast differentiation. Am J Transl Res (2015) 0.76

Topical application of lithium chloride on the pulp induces dentin regeneration. PLoS One (2015) 0.75

Potential Role of Dentin Sialoprotein by Inducing Dental Pulp Mesenchymal Stem Cell Differentiation and Mineralization for Dental Tissue Repair. Dent Hypotheses (2010) 0.75

Analysis of phenotype-genotype connection: the story of dissecting disease pathogenesis in genomic era in China, and beyond. Philos Trans R Soc Lond B Biol Sci (2007) 0.75

Klf5 Mediates Odontoblastic Differentiation through Regulating Dentin-Specific Extracellular Matrix Gene Expression during Mouse Tooth Development. Sci Rep (2017) 0.75

Dentin Sialoprotein is a Novel Substrate of Matrix Metalloproteinase 9 in vitro and in vivo. Sci Rep (2017) 0.75

Detection of a Novel DSPP Mutation by NGS in a Population Isolate in Madagascar. Front Physiol (2016) 0.75

Articles by these authors

(truncated to the top 100)

The transcriptional landscape of the mammalian genome. Science (2005) 37.63

Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs. Nature (2002) 28.79

Effects of radiotherapy and of differences in the extent of surgery for early breast cancer on local recurrence and 15-year survival: an overview of the randomised trials. Lancet (2005) 24.57

The genome of black cottonwood, Populus trichocarpa (Torr. & Gray). Science (2006) 21.03

Gene transfer into mouse lyoma cells by electroporation in high electric fields. EMBO J (1982) 17.98

Induction of apoptotic program in cell-free extracts: requirement for dATP and cytochrome c. Cell (1996) 16.73

Requirement of interleukin 17 receptor signaling for lung CXC chemokine and granulocyte colony-stimulating factor expression, neutrophil recruitment, and host defense. J Exp Med (2001) 12.38

Complete genome sequence of Methanobacterium thermoautotrophicum deltaH: functional analysis and comparative genomics. J Bacteriol (1997) 12.21

The Arabidopsis Information Resource (TAIR): a comprehensive database and web-based information retrieval, analysis, and visualization system for a model plant. Nucleic Acids Res (2001) 11.93

p63, a p53 homolog at 3q27-29, encodes multiple products with transactivating, death-inducing, and dominant-negative activities. Mol Cell (1998) 11.54

Effect of radiotherapy after breast-conserving surgery on 10-year recurrence and 15-year breast cancer death: meta-analysis of individual patient data for 10,801 women in 17 randomised trials. Lancet (2011) 9.20

The relationship between glucose and incident cardiovascular events. A metaregression analysis of published data from 20 studies of 95,783 individuals followed for 12.4 years. Diabetes Care (1999) 9.16

WAF1/CIP1 is induced in p53-mediated G1 arrest and apoptosis. Cancer Res (1994) 9.00

A novel phenotypic drug susceptibility assay for human immunodeficiency virus type 1. Antimicrob Agents Chemother (2000) 8.54

Coronary-artery calcification in young adults with end-stage renal disease who are undergoing dialysis. N Engl J Med (2000) 8.47

Effect of radiotherapy after mastectomy and axillary surgery on 10-year recurrence and 20-year breast cancer mortality: meta-analysis of individual patient data for 8135 women in 22 randomised trials. Lancet (2014) 8.04

Positional cloning of the gene for multiple endocrine neoplasia-type 1. Science (1997) 7.95

fw2.2: a quantitative trait locus key to the evolution of tomato fruit size. Science (2000) 7.91

The frequency of chimeric molecules as a consequence of PCR co-amplification of 16S rRNA genes from different bacterial species. Microbiology (1996) 7.78

Knockout of glutamate transporters reveals a major role for astroglial transport in excitotoxicity and clearance of glutamate. Neuron (1996) 7.20

Frequency of formation of chimeric molecules as a consequence of PCR coamplification of 16S rRNA genes from mixed bacterial genomes. Appl Environ Microbiol (1997) 7.09

A new member of the frizzled family from Drosophila functions as a Wingless receptor. Nature (1996) 7.04

Requirement of ATM-dependent phosphorylation of brca1 in the DNA damage response to double-strand breaks. Science (1999) 6.93

A novel role for 3-O-sulfated heparan sulfate in herpes simplex virus 1 entry. Cell (1999) 6.82

Ecological degradation in protected areas: the case of Wolong Nature Reserve for giant pandas. Science (2001) 6.52

Leptin-regulated endocannabinoids are involved in maintaining food intake. Nature (2001) 6.36

TFAR19, a novel apoptosis-related gene cloned from human leukemia cell line TF-1, could enhance apoptosis of some tumor cells induced by growth factor withdrawal. Biochem Biophys Res Commun (1999) 6.33

Effects of prenatal and postnatal methylmercury exposure from fish consumption on neurodevelopment: outcomes at 66 months of age in the Seychelles Child Development Study. JAMA (1998) 6.30

The Genome Sequence DataBase: towards an integrated functional genomics resource. Nucleic Acids Res (1999) 6.20

Evidence for circulating bone marrow-derived endothelial cells. Blood (1998) 6.15

Prevention of graft versus host disease by inactivation of host antigen-presenting cells. Science (1999) 6.02

Readmission after hospitalization for congestive heart failure among Medicare beneficiaries. Arch Intern Med (1997) 5.93

Digital tomosynthesis in breast imaging. Radiology (1997) 5.82

FOG, a multitype zinc finger protein, acts as a cofactor for transcription factor GATA-1 in erythroid and megakaryocytic differentiation. Cell (1997) 5.78

Atomic structure of a thermostable subdomain of HIV-1 gp41. Proc Natl Acad Sci U S A (1997) 5.76

SOX9 is a potent activator of the chondrocyte-specific enhancer of the pro alpha1(II) collagen gene. Mol Cell Biol (1997) 5.72

Self-monitoring of blood glucose levels and glycemic control: the Northern California Kaiser Permanente Diabetes registry. Am J Med (2001) 5.68

A cluster of hydrophobic amino acid residues required for fast Na(+)-channel inactivation. Proc Natl Acad Sci U S A (1992) 5.60

Leptomycin B is an inhibitor of nuclear export: inhibition of nucleo-cytoplasmic translocation of the human immunodeficiency virus type 1 (HIV-1) Rev protein and Rev-dependent mRNA. Chem Biol (1997) 5.49

Tissue-specific overexpression of lipoprotein lipase causes tissue-specific insulin resistance. Proc Natl Acad Sci U S A (2001) 5.48

Deficient hippocampal long-term potentiation in alpha-calcium-calmodulin kinase II mutant mice. Science (1992) 5.46

Blood transfusion in elderly patients with acute myocardial infarction. N Engl J Med (2001) 5.43

IAP-family protein survivin inhibits caspase activity and apoptosis induced by Fas (CD95), Bax, caspases, and anticancer drugs. Cancer Res (1998) 5.41

Genetic diversity and disease control in rice. Nature (2000) 5.34

A role for the lissencephaly gene LIS1 in mitosis and cytoplasmic dynein function. Nat Cell Biol (2000) 5.29

Racial differences in the use of cardiac catheterization after acute myocardial infarction. N Engl J Med (2001) 5.29

Organizing principles for a diversity of GABAergic interneurons and synapses in the neocortex. Science (2000) 5.27

Separation of caveolae from associated microdomains of GPI-anchored proteins. Science (1995) 5.25

High fertilization and implantation rates after intracytoplasmic sperm injection. Hum Reprod (1993) 5.06

A genomic screen of autism: evidence for a multilocus etiology. Am J Hum Genet (1999) 4.96

Comparing sequenced segments of the tomato and Arabidopsis genomes: large-scale duplication followed by selective gene loss creates a network of synteny. Proc Natl Acad Sci U S A (2000) 4.90

Hematopoietic cell transplantation in older patients with hematologic malignancies: replacing high-dose cytotoxic therapy with graft-versus-tumor effects. Blood (2001) 4.65

Differential signaling via the same axon of neocortical pyramidal neurons. Proc Natl Acad Sci U S A (1998) 4.59

A fixative for intestinal parasites permitting the use of concentration and permanent staining procedures. Am J Clin Pathol (1977) 4.58

POWER_SAGE: comparing statistical tests for SAGE experiments. Bioinformatics (2000) 4.56

BACE1 is the major beta-secretase for generation of Abeta peptides by neurons. Nat Neurosci (2001) 4.54

Tomotherapy: a new concept for the delivery of dynamic conformal radiotherapy. Med Phys (1994) 4.50

Vitamin C pharmacokinetics in healthy volunteers: evidence for a recommended dietary allowance. Proc Natl Acad Sci U S A (1996) 4.45

Genome sequence, comparative analysis, and population genetics of the domestic horse. Science (2009) 4.41

Activation of Arp2/3 complex-mediated actin polymerization by cortactin. Nat Cell Biol (2001) 4.38

Do "America's Best Hospitals" perform better for acute myocardial infarction? N Engl J Med (1999) 4.30

Circular intermediates of recombinant adeno-associated virus have defined structural characteristics responsible for long-term episomal persistence in muscle tissue. J Virol (1998) 4.17

Genome-wide association studies establish that human intelligence is highly heritable and polygenic. Mol Psychiatry (2011) 4.16

Haploinsufficiency of Sox9 results in defective cartilage primordia and premature skeletal mineralization. Proc Natl Acad Sci U S A (2001) 4.13

Erythroid-cell-specific properties of transcription factor GATA-1 revealed by phenotypic rescue of a gene-targeted cell line. Mol Cell Biol (1997) 4.12

Fringe is a glycosyltransferase that modifies Notch. Nature (2000) 4.09

Broadly protective vaccine for Staphylococcus aureus based on an in vivo-expressed antigen. Science (1999) 4.08

Comorbidity of DSM-III-R major depressive disorder in the general population: results from the US National Comorbidity Survey. Br J Psychiatry Suppl (1996) 3.99

Leptin enters the brain by a saturable system independent of insulin. Peptides (1996) 3.97

Estimation of pleiotropy between complex diseases using single-nucleotide polymorphism-derived genomic relationships and restricted maximum likelihood. Bioinformatics (2012) 3.97

A dual thrombin receptor system for platelet activation. Nature (1998) 3.96

Molecular cloning of cDNA for double-stranded RNA adenosine deaminase, a candidate enzyme for nuclear RNA editing. Proc Natl Acad Sci U S A (1994) 3.85

Targeting of nitric oxide synthase to endothelial cell caveolae via palmitoylation: implications for nitric oxide signaling. Proc Natl Acad Sci U S A (1996) 3.83

Ultralong single-wall carbon nanotubes. Nat Mater (2004) 3.83

Pleiotropic defects in ataxia-telangiectasia protein-deficient mice. Proc Natl Acad Sci U S A (1996) 3.78

Follicle stimulating hormone is required for ovarian follicle maturation but not male fertility. Nat Genet (1997) 3.69

The presynaptic particle web: ultrastructure, composition, dissolution, and reconstitution. Neuron (2001) 3.68

Glutamate release promotes growth of malignant gliomas. Nat Med (2001) 3.67

Signal timing across the macaque visual system. J Neurophysiol (1998) 3.66

Y-Chromosome evidence for a northward migration of modern humans into Eastern Asia during the last Ice Age. Am J Hum Genet (1999) 3.60

Endosomal processing limits gene transfer to polarized airway epithelia by adeno-associated virus. J Clin Invest (2000) 3.57

The alternative oxidase lowers mitochondrial reactive oxygen production in plant cells. Proc Natl Acad Sci U S A (1999) 3.53

A prognostic score for patients with lower risk myelodysplastic syndrome. Leukemia (2007) 3.45

Mutations in SCN9A, encoding a sodium channel alpha subunit, in patients with primary erythermalgia. J Med Genet (2004) 3.45

The ica locus of Staphylococcus epidermidis encodes production of the capsular polysaccharide/adhesin. Infect Immun (1998) 3.44

Signaling and transcription in T helper development. Annu Rev Immunol (2000) 3.44

Cooperative interaction of S. pombe proteins required for mating and morphogenesis. Cell (1994) 3.41

Focal adhesion kinase is involved in mechanosensing during fibroblast migration. Proc Natl Acad Sci U S A (2001) 3.41

A family of mammalian Na+-dependent L-ascorbic acid transporters. Nature (1999) 3.40

Ca2+ channel selectivity at a single locus for high-affinity Ca2+ interactions. Neuron (1995) 3.39

IL-17 stimulates granulopoiesis in mice: use of an alternate, novel gene therapy-derived method for in vivo evaluation of cytokines. J Immunol (1998) 3.37

Midzone microtubule bundles are continuously required for cytokinesis in cultured epithelial cells. J Cell Biol (1996) 3.36

Criteria and recommendations for vitamin C intake. JAMA (1999) 3.32

Proton-pump inhibitors and risk of fractures: an update meta-analysis. Osteoporos Int (2016) 3.30

Developing a prediction rule from automated clinical databases to identify high-risk patients in a large population with diabetes. Diabetes Care (2001) 3.27

A point mutation in the neu oncogene mimics ligand induction of receptor aggregation. Nature (1989) 3.27

Wildtype Kras2 can inhibit lung carcinogenesis in mice. Nat Genet (2001) 3.27

A protein encoded within the Down syndrome critical region is enriched in striated muscles and inhibits calcineurin signaling. J Biol Chem (2000) 3.26

Genetic analysis of salt tolerance in arabidopsis. Evidence for a critical role of potassium nutrition. Plant Cell (1998) 3.25

The crystal structure of a T cell receptor in complex with peptide and MHC class II. Science (1999) 3.23