A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II.

PubWeight™: 1.45‹?› | Rank: Top 5%

🔗 View Article (PMID 15241678)

Published in Hum Genet on July 06, 2004

Authors

J W Kim1, S H Nam, K T Jang, S H Lee, C C Kim, S H Hahn, J C C Hu, J P Simmer

Author Affiliations

1: Department of Biological and Material Sciences, University of Michigan Dental Research Laboratory, 1210 Eisenhower Place, Ann Arbor, MI 48108, USA.

Articles citing this

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

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

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

Amelogenin-collagen interactions regulate calcium phosphate mineralization in vitro. J Biol Chem (2010) 1.14

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

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

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

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

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

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

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

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

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

Dentin matrix protein 1 and dentin sialophosphoprotein in human sound and carious teeth: an immunohistochemical and colorimetric assay. Eur J Histochem (2013) 0.86

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

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

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

Developmental changes and regional localization of Dspp, Mepe, Mimecan and Versican in postnatal developing mouse teeth. J Mol Histol (2011) 0.83

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

Dentinogenesis Imperfecta : A Family which was Affected for Over Three Generations. J Clin Diagn Res (2013) 0.79

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

Repair of dentin defects from DSPP knockout mice by PILP mineralization. J Mater Res (2016) 0.75

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

Articles cited by this

Mechanisms of alternative pre-messenger RNA splicing. Annu Rev Biochem (2003) 21.11

Splicing of messenger RNA precursors. Annu Rev Biochem (1986) 14.41

Human Gene Mutation Database (HGMD): 2003 update. Hum Mutat (2003) 12.88

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: causes and consequences. Hum Genet (1992) 8.20

Cloning and characterization of a novel bicoid-related homeobox transcription factor gene, RIEG, involved in Rieger syndrome. Nat Genet (1996) 4.21

X-linked anhidrotic (hypohidrotic) ectodermal dysplasia is caused by mutation in a novel transmembrane protein. Nat Genet (1996) 3.90

A human MSX1 homeodomain missense mutation causes selective tooth agenesis. Nat Genet (1996) 3.24

Epithelial-mesenchymal signalling regulating tooth morphogenesis. J Cell Sci (2003) 3.03

Dentin sialophosphoprotein knockout mouse teeth display widened predentin zone and develop defective dentin mineralization similar to human dentinogenesis imperfecta type III. J Biol Chem (2003) 3.03

Dentinogenesis imperfecta 1 with or without progressive hearing loss is associated with distinct mutations in DSPP. Nat Genet (2001) 2.75

Signalling networks regulating dental development. Mech Dev (1997) 2.73

mRNA surveillance: the perfect persist. J Cell Sci (2002) 2.70

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 determination. J Biol Chem (1997) 2.69

Categorization and characterization of transcript-confirmed constitutively and alternatively spliced introns and exons from human. Hum Mol Genet (2002) 2.67

DSPP mutation in dentinogenesis imperfecta Shields type II. Nat Genet (2001) 2.39

A proposed classification for heritable human dentine defects with a description of a new entity. Arch Oral Biol (1973) 2.16

Mutation of PAX9 is associated with oligodontia. Nat Genet (2000) 2.13

The genetics of human tooth agenesis: new discoveries for understanding dental anomalies. Am J Orthod Dentofacial Orthop (2000) 2.07

The expression of dentin sialophosphoprotein gene in bone. J Dent Res (2002) 1.84

Mutation of the signal peptide region of the bicistronic gene DSPP affects translocation to the endoplasmic reticulum and results in defective dentine biomineralization. Hum Mol Genet (2002) 1.64

The phosphoprotein of the dentin matrix. Biochemistry (1967) 1.62

A comparative study of sialic acid-rich proteins in rat bone and dentin. Eur J Oral Sci (2001) 1.44

Normal and abnormal dental development. Hum Mol Genet (2003) 1.33

A missense mutation in PAX9 in a family with distinct phenotype of oligodontia. Eur J Hum Genet (2003) 1.32

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

Noncollagenous proteins of dentin. A re-examination of proteins from rat incisor dentin utilizing techniques to avoid artifacts. J Biol Chem (1980) 1.26

Dentin extracellular matrix (ECM) proteins: comparison to bone ECM and contribution to dynamics of dentinogenesis. Connect Tissue Res (2003) 1.20

The anhidrotic ectodermal dysplasia gene (EDA) undergoes alternative splicing and encodes ectodysplasin-A with deletion mutations in collagenous repeats. Hum Mol Genet (1998) 1.18

Dentin sialoprotein in bone and dentin sialophosphoprotein gene expressed by osteoblasts. Connect Tissue Res (2003) 1.13

A novel mutation identified in the DFNA5 gene in a Dutch family: a clinical and genetic evaluation. Audiol Neurootol (2003) 1.12

Molecular genetics of tooth morphogenesis and patterning: the right shape in the right place. J Dent Res (1999) 1.09

Novel COL1A1 mutation (G559C) [correction of G599C] associated with mild osteogenesis imperfecta and dentinogenesis imperfecta. Arch Oral Biol (2001) 1.08

Phosphophoryns-major noncollagenous proteins of rat incisor dentin. Calcif Tissue Res (1978) 1.05

Mutations in type I collagen genes resulting in osteogenesis imperfecta in humans. Acta Biochim Pol (2002) 1.01

The enamel knot: a putative signaling center regulating tooth development. Cold Spring Harb Symp Quant Biol (1997) 1.00

Molecular biology. Skiing toward nonstop mRNA decay. Science (2002) 0.98

Dentin dysplasia, type II linkage to chromosome 4q. J Craniofac Genet Dev Biol (1998) 0.97

A longitudinal study of the association between tooth loss and age-related hearing loss. Spec Care Dentist (2001) 0.90

Newer knowledge of non-collagenous protein in dentin and cortical bone matrix. Clin Orthop Relat Res (1975) 0.90

The extracellular matrix of the dental pulp and dentin. J Dent Res (1985) 0.84

Dentin-specific proteins. Methods Enzymol (1987) 0.82

Dentin extracellular matrix and dentinogenesis. Oper Dent (1992) 0.80

RNA events. No end to nonsense. Science (2002) 0.80

Partial cDNA sequencing of mouse dentine sialoprotein and detection of its specific expression by odontoblasts. Arch Oral Biol (1996) 0.78

A look at ear canal changes with jaw motion. Ear Hear (1992) 0.78

Assessment of dysplastic dentin in osteogenesis imperfecta and dentinogenesis imperfecta. Acta Odontol Scand (2003) 0.77

Changes and equalization in hearing level induced by dental treatment and instruction in bilaterally equalized chewing: a clinical report. Bull Tokyo Dent Coll (2002) 0.75

Articles by these authors

Identification of mycobacterial species by comparative sequence analysis of the RNA polymerase gene (rpoB). J Clin Microbiol (1999) 5.28

Sequence requirements for nucleolar localization of human T cell leukemia virus type I pX protein, which regulates viral RNA processing. Cell (1988) 3.92

Enhanced proliferation, survival, and dopaminergic differentiation of CNS precursors in lowered oxygen. J Neurosci (2000) 3.40

The structural biology of the developing dental enamel matrix. J Struct Biol (1999) 3.36

Quantitative analysis of total macrophage content in adult mouse tissues. Immunochemical studies with monoclonal antibody F4/80. J Exp Med (1985) 3.11

Lipoproteins and their receptors in the central nervous system. Characterization of the lipoproteins in cerebrospinal fluid and identification of apolipoprotein B,E(LDL) receptors in the brain. J Biol Chem (1987) 3.04

A new dynamin-like protein, ADL6, is involved in trafficking from the trans-Golgi network to the central vacuole in Arabidopsis. Plant Cell (2001) 3.01

MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta. J Med Genet (2005) 2.99

Distinct molecular mechanisms and divergent endocytotic pathways of AMPA receptor internalization. Nat Neurosci (2000) 2.99

The combination of bedside swallowing assessment and oxygen saturation monitoring of swallowing in acute stroke: a safe and humane screening tool. Age Ageing (2000) 2.92

Astrocytes synthesize apolipoprotein E and metabolize apolipoprotein E-containing lipoproteins. Biochim Biophys Acta (1987) 2.90

Ultrafast bond softening in bismuth: mapping a solid's interatomic potential with X-rays. Science (2007) 2.84

Accuracy of magnetic resonance imaging in determining cause of sudden death in adults: comparison with conventional autopsy. Histopathology (2003) 2.75

Iodine-123 MIBG imaging before treatment of heart failure with carvedilol to predict improvement of left ventricular function and exercise capacity. J Nucl Cardiol (2001) 2.70

The in vitro replication of DNA containing the SV40 origin. J Biol Chem (1990) 2.68

Origins and frequencies of SLC26A4 (PDS) mutations in east and south Asians: global implications for the epidemiology of deafness. J Med Genet (2003) 2.52

Tremorgenic indole alkaloids potently inhibit smooth muscle high-conductance calcium-activated potassium channels. Biochemistry (1994) 2.51

Characterization of recombinant pig enamelysin activity and cleavage of recombinant pig and mouse amelogenins. J Dent Res (1999) 2.50

Multiple functions of human single-stranded-DNA binding protein in simian virus 40 DNA replication: single-strand stabilization and stimulation of DNA polymerases alpha and delta. Proc Natl Acad Sci U S A (1989) 2.38

Proteinases in developing dental enamel. Crit Rev Oral Biol Med (1999) 2.37

Metagonimus miyatai sp. nov. (Digenea: Heterophyidae), a new intestinal trematode transmitted by freshwater fishes in Japan and Korea. Korean J Parasitol (1997) 2.33

Hereditary dentin defects. J Dent Res (2007) 2.33

The human bone marrow response to acute air pollution caused by forest fires. Am J Respir Crit Care Med (2000) 2.22

Physical interaction between human RAD52 and RPA is required for homologous recombination in mammalian cells. J Biol Chem (1996) 2.18

Effects of interferon-gamma and tumor necrosis factor-alpha on the expression of an Ia antigen on a murine macrophage cell line. J Immunol (1986) 2.10

The association between higher serum ferritin level and lower bone mineral density is prominent in women ≥45 years of age (KNHANES 2008-2010). Osteoporos Int (2013) 2.07

Remodelling of nasal mucosa in mild and severe persistent allergic rhinitis with special reference to the distribution of collagen, proteoglycans, and lymphatic vessels. Clin Exp Allergy (2010) 2.04

Intestinal trematodes of humans in Korea: Metagonimus, heterophyids and echinostomes. Kisaengchunghak Chapchi (1990) 2.03

Ultrasound-guided transcervical forceps extraction of unruptured interstitial pregnancy. BJOG (2013) 2.01

Inactivation of erythropoietin leads to defects in cardiac morphogenesis. Development (1999) 2.00

Amniotic membrane transplantation for conjunctival surface reconstruction. Am J Ophthalmol (1997) 1.98

Dna2 of Saccharomyces cerevisiae possesses a single-stranded DNA-specific endonuclease activity that is able to act on double-stranded DNA in the presence of ATP. J Biol Chem (1998) 1.97

Outbreak of viral gastroenteritis due to a contaminated well. International consequences. JAMA (1997) 1.92

Clinical outcomes and risk factors of post-polypectomy coagulation syndrome: a multicenter, retrospective, case-control study. Endoscopy (2013) 1.91

The importance of anaemia in cerebral and uncomplicated falciparum malaria: role of complications, dyserythropoiesis and iron sequestration. Q J Med (1986) 1.90

Successful DNA immunization against measles: neutralizing antibody against either the hemagglutinin or fusion glycoprotein protects rhesus macaques without evidence of atypical measles. Nat Med (2000) 1.85

Fractures of long bones occurring in neonatal intensive therapy units. BMJ (1990) 1.84

Sequential actions of BMP receptors control neural precursor cell production and fate. Genes Dev (2001) 1.84

ENAM mutations in autosomal-dominant amelogenesis imperfecta. J Dent Res (2005) 1.83

Molecular epidemiological analysis of quinolone-resistant Escherichia coli causing bacteremia in neutropenic patients with leukemia in Korea. Clin Infect Dis (1997) 1.83

The synergistic anti-proliferative effect of gamma-interferon and human lymphotoxin. J Immunol (1984) 1.81

Dynamics of travelling waves in visual perception. Nature (2001) 1.80

A novel cold-inducible zinc finger protein from soybean, SCOF-1, enhances cold tolerance in transgenic plants. Plant J (2001) 1.74

Somatic mutations in the kinase domain of the Met/hepatocyte growth factor receptor gene in childhood hepatocellular carcinomas. Cancer Res (1999) 1.74

Detection and species determination of malaria parasites by PCR: comparison with microscopy and with ParaSight-F and ICT malaria Pf tests in a clinical environment. J Clin Microbiol (1999) 1.71

Regulation of dental enamel shape and hardness. J Dent Res (2010) 1.71

Self-assembly of a recombinant amelogenin protein generates supramolecular structures. J Struct Biol (1994) 1.71

A comprehensive "Healthy Schools Programme" to promote school health: the Hong Kong experience in joining the efforts of health and education sectors. J Epidemiol Community Health (2003) 1.70

Nitric oxide negatively regulates c-Jun N-terminal kinase/stress-activated protein kinase by means of S-nitrosylation. Proc Natl Acad Sci U S A (2000) 1.70

Macrophage plasma membrane and secretory properties in murine malaria. Effects of Plasmodium yoelii blood-stage infection on macrophages in liver, spleen, and blood. J Exp Med (1986) 1.69

Human homolog of the MutY repair protein (hMYH) physically interacts with proteins involved in long patch DNA base excision repair. J Biol Chem (2000) 1.69

Connexin26 mutations associated with nonsyndromic hearing loss. Laryngoscope (2000) 1.69

Gastrostomy insertion: comparing the options--PEG, RIG or PIG? Clin Radiol (2003) 1.67

Enhanced virus replication in mammalian cells exposed to commercial emulsifiers. Appl Environ Microbiol (1978) 1.66

Two endemic foci of heterophyids and other intestinal fluke infections in southern and western coastal areas in Korea. Korean J Parasitol (1998) 1.66

Mutational analysis of oncogenic AKT E17K mutation in common solid cancers and acute leukaemias. Br J Cancer (2008) 1.66

The palearctic oystercatcher Haematopus ostralegus, a natural definitive host for Gymnophalloides seoi. J Parasitol (2000) 1.64

Genetic analysis of the VP1 region of human enterovirus 71 strains isolated in Korea during 2000. Arch Virol (2003) 1.64

Endocarditis due to Q fever in Nova Scotia: experience with five patients in 1981-1982. J Infect Dis (1983) 1.64

Thiol agents and Bcl-2 identify an alphavirus-induced apoptotic pathway that requires activation of the transcription factor NF-kappa B. J Cell Biol (1995) 1.62

leafy hull sterile1 is a homeotic mutation in a rice MADS box gene affecting rice flower development. Plant Cell (2000) 1.62

Preoperative NT-proBNP and CRP predict perioperative major cardiovascular events in non-cardiac surgery. Heart (2009) 1.62

Involvement of specific calmodulin isoforms in salicylic acid-independent activation of plant disease resistance responses. Proc Natl Acad Sci U S A (1999) 1.61

An epidemiological survey of Cryptosporidium parvum infection in randomly selected inhabitants of Seoul and Chollanam-do. Korean J Parasitol (1996) 1.61

Visual features that vary together over time group together over space. Nat Neurosci (1998) 1.60

Mmp-20 and Klk4 cleavage site preferences for amelogenin sequences. J Dent Res (2009) 1.59

Genetic control of innate immune responses against cytomegalovirus: MCMV meets its match. Genes Immun (2002) 1.59

Interaction of the Arabidopsis receptor protein kinase Wak1 with a glycine-rich protein, AtGRP-3. J Biol Chem (2001) 1.57

Significance of acute multiple brain infarction on diffusion-weighted imaging. Stroke (2000) 1.57

[Second report on intestinal parasites among the patients of Seoul Paik Hospital (1984-1992)]. Korean J Parasitol (1994) 1.56

Molecular cloning and mRNA tissue distribution of a novel matrix metalloproteinase isolated from porcine enamel organ. Gene (1996) 1.56

Mental health service users' experiences of mental health care: an integrative literature review. J Psychiatr Ment Health Nurs (2015) 1.56

MR-Intracranial pressure (ICP): a method to measure intracranial elastance and pressure noninvasively by means of MR imaging: baboon and human study. Radiology (2000) 1.55

Frequent somatic mutations in serine/threonine kinase 11/Peutz-Jeghers syndrome gene in left-sided colon cancer. Cancer Res (1998) 1.55

Population bottlenecks and Pleistocene human evolution. Mol Biol Evol (2000) 1.55

Isolation of a DNA helicase from HeLa cells requiring the multisubunit human single-stranded DNA-binding protein for activity. J Biol Chem (1991) 1.54

Radiologic features of vasculitis involving the gastrointestinal tract. Radiographics (2000) 1.54

Passive transfer of HIV antibody by hepatitis B immune globulin. JAMA (1989) 1.53

AMPA receptor trafficking and the control of synaptic transmission. Cell (2001) 1.53

Common SNPs explain some of the variation in the personality dimensions of neuroticism and extraversion. Transl Psychiatry (2012) 1.52

Anatomy of medial gastrocnemius and soleus motor nuclei in cat spinal cord. J Neurophysiol (1977) 1.51

Seroprevalence of toxoplasmosis in the residents of Cheju island, Korea. Korean J Parasitol (2000) 1.51

Control of clonorchiasis by repeated praziquantel treatment and low diagnostic efficacy of sonography. Korean J Parasitol (1998) 1.51

Resorcylic acid lactones: naturally occurring potent and selective inhibitors of MEK. J Antibiot (Tokyo) (1999) 1.51

Acute renal failure in non-fulminant hepatitis A. Nephrol Dial Transplant (1996) 1.50

An epidemiological study of metagonimiasis along the upper reaches of the Namhan River. Korean J Parasitol (1993) 1.50

A new endemic focus of Heterophyes nocens, Pygidiopsis summa, and other intestinal flukes in a coastal area of Muan-gun, Chollanam-do. Korean J Parasitol (1997) 1.49

Hepatic capillariasis: first case report in the Republic of Korea. Am J Trop Med Hyg (1993) 1.49

Testing multiregionality of modern human origins. Mol Biol Evol (2001) 1.48

Physical mapping and microsynteny of Brassica rapa ssp. pekinensis genome corresponding to a 222 kbp gene-rich region of Arabidopsis chromosome 4 and partially duplicated on chromosome 5. Mol Genet Genomics (2005) 1.48

Characterization of marine prokaryotic communities via DNA and RNA. Microb Ecol (1994) 1.48

Frequent somatic mutations of the beta-catenin gene in intestinal-type gastric cancer. Cancer Res (1999) 1.47

Scrub typhus encephalomyelitis with prominent focal neurologic signs. Arch Neurol (2000) 1.47

Phenylpropanolamine contained in cold remedies and risk of hemorrhagic stroke. Neurology (2007) 1.47

Aplasia of the internal carotid artery. Acta Neurochir (Wien) (2003) 1.47

The first discovery of larval Gnathostoma hispidum (Nematoda: Gnathostomidae) from a snake host, Agkistrodon brevicaudus. Korean J Parasitol (1998) 1.46

Processing of ameloblastin by MMP-20. J Dent Res (2007) 1.46

Acute and long-term effects of atrioventricular junction ablation and VVIR pacemaker in symptomatic patients with chronic lone atrial fibrillation and normal ventricular response. J Cardiovasc Electrophysiol (2001) 1.46