Mouse Dspp frameshift model of human dentinogenesis imperfecta
Non-syndromic inherited defects of tooth dentin are caused by two classes of dominant negative/gain-of-function mutations in dentin sialophosphoprotein ( DSPP ): 5′ mutations affecting an N-terminal targeting sequence and 3′ mutations that shift translation into the − 1 reading frame. DSPP defects c...
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| Published in: | Scientific reports Vol. 11; no. 1; p. 20653 |
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| Main Authors: | , , , , , , , , , , , |
| Format: | Journal Article |
| Language: | English |
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19-10-2021
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| Abstract | Non-syndromic inherited defects of tooth dentin are caused by two classes of dominant negative/gain-of-function mutations in dentin sialophosphoprotein (
DSPP
): 5′ mutations affecting an N-terminal targeting sequence and 3′ mutations that shift translation into the − 1 reading frame.
DSPP
defects cause an overlapping spectrum of phenotypes classified as
dentin dysplasia
type II and
dentinogenesis imperfecta
types II and III. Using CRISPR/Cas9, we generated a
Dspp
−1fs
mouse model by introducing a FLAG-tag followed by a single nucleotide deletion that translated 493 extraneous amino acids before termination. Developing incisors and/or molars from this mouse and a
Dspp
P19L
mouse were characterized by morphological assessment, bSEM, nanohardness testing, histological analysis, in situ hybridization and immunohistochemistry.
Dspp
P19L
dentin contained dentinal tubules but grew slowly and was softer and less mineralized than the wild-type.
Dspp
P19L
incisor enamel was softer than normal, while molar enamel showed reduced rod/interrod definition.
Dspp
−1fs
dentin formation was analogous to reparative dentin: it lacked dentinal tubules, contained cellular debris, and was significantly softer and thinner than
Dspp
+/+
and
Dspp
P19L
dentin. The
Dspp
−1fs
incisor enamel appeared normal and was comparable to the wild-type in hardness. We conclude that 5′ and 3′
Dspp
mutations cause dental malformations through different pathological mechanisms and can be regarded as distinct disorders. |
|---|---|
| AbstractList | Non-syndromic inherited defects of tooth dentin are caused by two classes of dominant negative/gain-of-function mutations in dentin sialophosphoprotein (DSPP): 5' mutations affecting an N-terminal targeting sequence and 3' mutations that shift translation into the - 1 reading frame. DSPP defects cause an overlapping spectrum of phenotypes classified as dentin dysplasia type II and dentinogenesis imperfecta types II and III. Using CRISPR/Cas9, we generated a Dspp
mouse model by introducing a FLAG-tag followed by a single nucleotide deletion that translated 493 extraneous amino acids before termination. Developing incisors and/or molars from this mouse and a Dspp
mouse were characterized by morphological assessment, bSEM, nanohardness testing, histological analysis, in situ hybridization and immunohistochemistry. Dspp
dentin contained dentinal tubules but grew slowly and was softer and less mineralized than the wild-type. Dspp
incisor enamel was softer than normal, while molar enamel showed reduced rod/interrod definition. Dspp
dentin formation was analogous to reparative dentin: it lacked dentinal tubules, contained cellular debris, and was significantly softer and thinner than Dspp
and Dspp
dentin. The Dspp
incisor enamel appeared normal and was comparable to the wild-type in hardness. We conclude that 5' and 3' Dspp mutations cause dental malformations through different pathological mechanisms and can be regarded as distinct disorders. Abstract Non-syndromic inherited defects of tooth dentin are caused by two classes of dominant negative/gain-of-function mutations in dentin sialophosphoprotein (DSPP): 5′ mutations affecting an N-terminal targeting sequence and 3′ mutations that shift translation into the − 1 reading frame. DSPP defects cause an overlapping spectrum of phenotypes classified as dentin dysplasia type II and dentinogenesis imperfecta types II and III. Using CRISPR/Cas9, we generated a Dspp −1fs mouse model by introducing a FLAG-tag followed by a single nucleotide deletion that translated 493 extraneous amino acids before termination. Developing incisors and/or molars from this mouse and a Dspp P19L mouse were characterized by morphological assessment, bSEM, nanohardness testing, histological analysis, in situ hybridization and immunohistochemistry. Dspp P19L dentin contained dentinal tubules but grew slowly and was softer and less mineralized than the wild-type. Dspp P19L incisor enamel was softer than normal, while molar enamel showed reduced rod/interrod definition. Dspp −1fs dentin formation was analogous to reparative dentin: it lacked dentinal tubules, contained cellular debris, and was significantly softer and thinner than Dspp +/+ and Dspp P19L dentin. The Dspp −1fs incisor enamel appeared normal and was comparable to the wild-type in hardness. We conclude that 5′ and 3′ Dspp mutations cause dental malformations through different pathological mechanisms and can be regarded as distinct disorders. Non-syndromic inherited defects of tooth dentin are caused by two classes of dominant negative/gain-of-function mutations in dentin sialophosphoprotein ( DSPP ): 5′ mutations affecting an N-terminal targeting sequence and 3′ mutations that shift translation into the − 1 reading frame. DSPP defects cause an overlapping spectrum of phenotypes classified as dentin dysplasia type II and dentinogenesis imperfecta types II and III. Using CRISPR/Cas9, we generated a Dspp −1fs mouse model by introducing a FLAG-tag followed by a single nucleotide deletion that translated 493 extraneous amino acids before termination. Developing incisors and/or molars from this mouse and a Dspp P19L mouse were characterized by morphological assessment, bSEM, nanohardness testing, histological analysis, in situ hybridization and immunohistochemistry. Dspp P19L dentin contained dentinal tubules but grew slowly and was softer and less mineralized than the wild-type. Dspp P19L incisor enamel was softer than normal, while molar enamel showed reduced rod/interrod definition. Dspp −1fs dentin formation was analogous to reparative dentin: it lacked dentinal tubules, contained cellular debris, and was significantly softer and thinner than Dspp +/+ and Dspp P19L dentin. The Dspp −1fs incisor enamel appeared normal and was comparable to the wild-type in hardness. We conclude that 5′ and 3′ Dspp mutations cause dental malformations through different pathological mechanisms and can be regarded as distinct disorders. Non-syndromic inherited defects of tooth dentin are caused by two classes of dominant negative/gain-of-function mutations in dentin sialophosphoprotein (DSPP): 5′ mutations affecting an N-terminal targeting sequence and 3′ mutations that shift translation into the − 1 reading frame. DSPP defects cause an overlapping spectrum of phenotypes classified as dentin dysplasia type II and dentinogenesis imperfecta types II and III. Using CRISPR/Cas9, we generated a Dspp−1fs mouse model by introducing a FLAG-tag followed by a single nucleotide deletion that translated 493 extraneous amino acids before termination. Developing incisors and/or molars from this mouse and a DsppP19L mouse were characterized by morphological assessment, bSEM, nanohardness testing, histological analysis, in situ hybridization and immunohistochemistry. DsppP19L dentin contained dentinal tubules but grew slowly and was softer and less mineralized than the wild-type. DsppP19L incisor enamel was softer than normal, while molar enamel showed reduced rod/interrod definition. Dspp−1fs dentin formation was analogous to reparative dentin: it lacked dentinal tubules, contained cellular debris, and was significantly softer and thinner than Dspp+/+ and DsppP19L dentin. The Dspp−1fs incisor enamel appeared normal and was comparable to the wild-type in hardness. We conclude that 5′ and 3′ Dspp mutations cause dental malformations through different pathological mechanisms and can be regarded as distinct disorders. |
| ArticleNumber | 20653 |
| Author | Wang, Shih-Kai Simmer, James P. Liang, Tian Kim, Jung-Wook Lu, Yongbo Zhang, Hong Xu, Qian Saunders, Thomas L. Hu, Yuanyuan Hu, Jan C.-C. Zhang, Chuhua Smith, Charles E. |
| Author_xml | – sequence: 1 givenname: Tian surname: Liang fullname: Liang, Tian organization: Department of Biologic and Materials Sciences, University of Michigan School of Dentistry – sequence: 2 givenname: Yuanyuan surname: Hu fullname: Hu, Yuanyuan organization: Department of Biologic and Materials Sciences, University of Michigan School of Dentistry – sequence: 3 givenname: Hong surname: Zhang fullname: Zhang, Hong organization: Department of Biologic and Materials Sciences, University of Michigan School of Dentistry – sequence: 4 givenname: Qian surname: Xu fullname: Xu, Qian organization: Department of Biomedical Sciences and Center for Craniofacial Research and Diagnosis, Texas A&M University College of Dentistry – sequence: 5 givenname: Charles E. surname: Smith fullname: Smith, Charles E. organization: Department of Biologic and Materials Sciences, University of Michigan School of Dentistry, Department of Anatomy and Cell Biology and Faculty of Dentistry, Facility for Electron Microscopy Research, McGill University – sequence: 6 givenname: Chuhua surname: Zhang fullname: Zhang, Chuhua organization: Department of Biologic and Materials Sciences, University of Michigan School of Dentistry – sequence: 7 givenname: Jung-Wook surname: Kim fullname: Kim, Jung-Wook organization: Department of Molecular Genetics, School of Dentistry & Dental Research Institute, Seoul National University, Department of Pediatric Dentistry, School of Dentistry & Dental Research Institute, Seoul National University – sequence: 8 givenname: Shih-Kai surname: Wang fullname: Wang, Shih-Kai organization: Department of Dentistry, National Taiwan University School of Dentistry – sequence: 9 givenname: Thomas L. surname: Saunders fullname: Saunders, Thomas L. organization: Department of Internal Medicine, University of Michigan Medical School – sequence: 10 givenname: Yongbo surname: Lu fullname: Lu, Yongbo organization: Department of Biomedical Sciences and Center for Craniofacial Research and Diagnosis, Texas A&M University College of Dentistry – sequence: 11 givenname: Jan C.-C. surname: Hu fullname: Hu, Jan C.-C. organization: Department of Biologic and Materials Sciences, University of Michigan School of Dentistry – sequence: 12 givenname: James P. surname: Simmer fullname: Simmer, James P. email: jsimmer@umich.edu organization: Department of Biologic and Materials Sciences, University of Michigan School of Dentistry |
| BackLink | https://www.ncbi.nlm.nih.gov/pubmed/34667213$$D View this record in MEDLINE/PubMed |
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| CitedBy_id | crossref_primary_10_1155_2024_5128588 crossref_primary_10_1177_00220345231154569 crossref_primary_10_1038_s41598_023_33362_1 crossref_primary_10_1016_j_archoralbio_2023_105701 crossref_primary_10_1016_j_dental_2024_06_013 crossref_primary_10_3389_fdmed_2022_1009264 crossref_primary_10_1177_00220345241236695 crossref_primary_10_3390_genes13050858 crossref_primary_10_12677_ACM_2023_1392076 |
| Cites_doi | 10.1038/sj.gt.3302687 10.1002/mgg3.375 10.1177/154405910808701217 10.1002/jbmr.1573 10.1007/s00784-018-2437-7 10.3389/fphys.2020.593626 10.1002/mgg3.724 10.1016/0003-9969(73)90075-7 10.1177/08959374890030022601 10.1016/0030-4220(56)90325-5 10.1563/AAID-JOI-D-12-00217 10.1016/j.ygeno.2012.01.006 10.1038/ejhg.2014.159 10.1016/j.joen.2014.01.011 10.1111/j.1600-0714.1988.tb01332.x 10.1002/mgg3.252 10.1177/154405910608500409 10.1007/s00439-004-1143-5 10.1046/j.0909-8836.1998.eos106510.x 10.1159/000016431 10.1111/j.1600-0722.2011.00874.x 10.1007/s00774-020-01163-5 10.1016/0030-4220(83)90008-7 10.1002/mgg3.176 10.1371/journal.pone.0195854 10.11005/jbm.2021.28.1.1 10.1016/S0021-9258(19)70720-0 10.1002/ajmg.a.61366 10.1016/bs.ctdb.2018.12.013 10.3389/fgene.2021.640558 10.1002/ar.1092250312 10.1038/s41598-020-80912-y 10.1111/odi.12621 10.1074/jbc.M303908200 10.1126/science.1254390 10.1016/0030-4220(71)90232-5 10.1111/j.1600-0722.2011.00859.x 10.1016/S0934-8832(11)80030-2 10.1186/1471-2148-9-299 10.1159/000102682 10.1080/03008200390152296 10.1159/000016495 10.1177/0022034519854029 10.1016/S1349-0079(09)80021-2 10.1177/154405910708600502 10.1073/pnas.081075198 10.1111/iej.13064 |
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| References | Kim, Simmer (CR3) 2007; 86 Bjorndal, Darvann, Thylstrup (CR28) 1998; 32 McKnight, Fisher (CR23) 2009; 9 Hart, Hart (CR39) 2007; 186 Duncan, Cooper, Smith (CR34) 2019; 52 Wang (CR49) 2019; 7 Yuan, Chai (CR26) 2019; 133 Taleb, Lauridsen, Daugaard-Jensen, Nieminen, Kreiborg (CR43) 2018; 6 Kim (CR45) 2004; 115 Gnoli (CR4) 2021; 12 Lee (CR17) 2013; 2013 Butler (CR50) 1992; 12 Li (CR16) 2012; 99 Hursey, Witkop, Miklashek, Sackett (CR37) 1956; 9 Liang (CR47) 2021; 11 Hu (CR48) 2016; 4 Bjorndal, Darvann (CR29) 1999; 33 Yamakoshi (CR33) 2009; 51 Almushayt, Narayanan, Zaki, George (CR36) 2005; 13 Pike (CR41) 1972; 46 Witkop (CR38) 1971; 32 Kim, Lee, Chang, Ki, Park (CR31) 2021; 28 Shields, Bixler, El-Kafrawy (CR6) 1973; 18 Yang (CR13) 2016; 4 Wang (CR14) 2011; 119 Meredith, Zhang, Gilbert, Jarvis, Springer (CR24) 2014; 346 Bencharit, Border, Mack, Byrd, Wright (CR46) 2014; 40 Mortier (CR5) 2019; 179 Witkop (CR9) 1957; 7 Sreenath (CR10) 2003; 278 Qin, Brunn, Cadena, Ridall, Butler (CR25) 2003; 44 Beattie (CR7) 2006; 85 Porntaveetus (CR18) 2019; 23 Smith, Nanci (CR21) 1989; 225 Linde, Bhown, Butler (CR1) 1980; 255 Palamara, Phakey, Rachinger, Orams (CR27) 1989; 3 Levin, Leaf, Jelmini, Rose, Rosenbaum (CR40) 1983; 56 McKnight, Simmer, Hart, Hart, Fisher (CR44) 2008; 87 Begue-Kirn, Krebsbach, Bartlett, Butler (CR22) 1998; 106 Witkop (CR42) 1988; 17 de La Dure-Molla, Philippe Fournier, Berdal (CR8) 2015; 23 Hu, Hu, Smith, Bartlett, Simmer (CR20) 2011; 119 Zhang (CR32) 2018; 13 von Marschall, Mok, Phillips, McKnight, Fisher (CR12) 2012; 27 Li (CR11) 2017; 23 Xi, Zhang, Zhang (CR2) 2021; 39 Liang (CR19) 2019; 98 Dimitrova-Nakov, Baudry, Harichane, Kellermann, Goldberg (CR30) 2014; 40 Shi (CR15) 2020; 11 Narayanan (CR35) 2001; 98 C Qin (219_CR25) 2003; 44 L Xi (219_CR2) 2021; 39 J Yang (219_CR13) 2016; 4 L Bjorndal (219_CR29) 1999; 33 JS Pike (219_CR41) 1972; 46 A Almushayt (219_CR36) 2005; 13 SK Wang (219_CR49) 2019; 7 T Liang (219_CR19) 2019; 98 S Bencharit (219_CR46) 2014; 40 Y Yamakoshi (219_CR33) 2009; 51 ML Beattie (219_CR7) 2006; 85 CJ Witkop (219_CR9) 1957; 7 C Begue-Kirn (219_CR22) 1998; 106 Z von Marschall (219_CR12) 2012; 27 J Palamara (219_CR27) 1989; 3 M Gnoli (219_CR4) 2021; 12 T Porntaveetus (219_CR18) 2019; 23 J Kim (219_CR31) 2021; 28 LS Levin (219_CR40) 1983; 56 WT Butler (219_CR50) 1992; 12 CJ Witkop Jr (219_CR42) 1988; 17 T Sreenath (219_CR10) 2003; 278 C Shi (219_CR15) 2020; 11 HF Duncan (219_CR34) 2019; 52 SK Wang (219_CR14) 2011; 119 RJ Hursey Jr (219_CR37) 1956; 9 F Li (219_CR11) 2017; 23 K Narayanan (219_CR35) 2001; 98 CE Smith (219_CR21) 1989; 225 DA McKnight (219_CR23) 2009; 9 Y Yuan (219_CR26) 2019; 133 H Zhang (219_CR32) 2018; 13 Y Hu (219_CR48) 2016; 4 ED Shields (219_CR6) 1973; 18 Y Hu (219_CR20) 2011; 119 M de La Dure-Molla (219_CR8) 2015; 23 A Linde (219_CR1) 1980; 255 L Bjorndal (219_CR28) 1998; 32 T Liang (219_CR47) 2021; 11 RW Meredith (219_CR24) 2014; 346 S Dimitrova-Nakov (219_CR30) 2014; 40 JW Kim (219_CR3) 2007; 86 JW Kim (219_CR45) 2004; 115 DA McKnight (219_CR44) 2008; 87 GR Mortier (219_CR5) 2019; 179 CJ Witkop Jr (219_CR38) 1971; 32 K Taleb (219_CR43) 2018; 6 D Li (219_CR16) 2012; 99 SK Lee (219_CR17) 2013; 2013 PS Hart (219_CR39) 2007; 186 |
| References_xml | – volume: 13 start-page: 611 year: 2005 ident: CR36 article-title: Dentin matrix protein 1 induces cytodifferentiation of dental pulp stem cells into odontoblasts publication-title: Gene Ther. doi: 10.1038/sj.gt.3302687 contributor: fullname: George – volume: 6 start-page: 339 year: 2018 end-page: 349 ident: CR43 article-title: Dentinogenesis imperfecta type II- genotype and phenotype analyses in three Danish families publication-title: Mol. Genet. Genomic Med. doi: 10.1002/mgg3.375 contributor: fullname: Kreiborg – volume: 87 start-page: 1108 year: 2008 end-page: 1111 ident: CR44 article-title: Overlapping DSPP mutations cause dentin dysplasia and dentinogenesis imperfecta publication-title: J. Dent. Res. doi: 10.1177/154405910808701217 contributor: fullname: Fisher – volume: 27 start-page: 1309 year: 2012 end-page: 1321 ident: CR12 article-title: 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 publication-title: J. Bone Miner. Res. doi: 10.1002/jbmr.1573 contributor: fullname: Fisher – volume: 23 start-page: 303 year: 2019 end-page: 313 ident: CR18 article-title: Compromised alveolar bone cells in a patient with dentinogenesis imperfecta caused by DSPP mutation publication-title: Clin. Oral Investig. doi: 10.1007/s00784-018-2437-7 contributor: fullname: Porntaveetus – volume: 11 start-page: 593626 year: 2020 ident: CR15 article-title: Haploinsufficiency of Dspp gene causes dentin dysplasia type II in mice publication-title: Front. Physiol. doi: 10.3389/fphys.2020.593626 contributor: fullname: Shi – volume: 7 start-page: e724 year: 2019 ident: CR49 article-title: The enamel phenotype in homozygous Fam83h truncation mice publication-title: Mol. Genet. Genomic Med. doi: 10.1002/mgg3.724 contributor: fullname: Wang – volume: 18 start-page: 543 year: 1973 end-page: 553 ident: CR6 article-title: A proposed classification for heritable human dentine defects with a description of a new entity publication-title: Arch. Oral Biol. doi: 10.1016/0003-9969(73)90075-7 contributor: fullname: El-Kafrawy – volume: 3 start-page: 249 year: 1989 end-page: 257 ident: CR27 article-title: Ultrastructure of spindles and tufts in human dental enamel publication-title: Adv. Dent. Res. doi: 10.1177/08959374890030022601 contributor: fullname: Orams – volume: 9 start-page: 641 year: 1956 end-page: 658 ident: CR37 article-title: Dentinogenesis imperfecta in a racial isolate with multiple hereditary defects publication-title: Oral Surg. Oral Med. Oral Pathol. doi: 10.1016/0030-4220(56)90325-5 contributor: fullname: Sackett – volume: 40 start-page: 593 year: 2014 end-page: 600 ident: CR46 article-title: Full-mouth rehabilitation for a patient with dentinogenesis imperfecta: A clinical report publication-title: J. Oral Implantol. doi: 10.1563/AAID-JOI-D-12-00217 contributor: fullname: Wright – volume: 99 start-page: 220 year: 2012 end-page: 226 ident: CR16 article-title: Mutation identification of the DSPP in a Chinese family with DGI-II and an up-to-date bioinformatic analysis publication-title: Genomics doi: 10.1016/j.ygeno.2012.01.006 contributor: fullname: Li – volume: 23 start-page: 445 year: 2015 end-page: 451 ident: CR8 article-title: Isolated dentinogenesis imperfecta and dentin dysplasia: Revision of the classification publication-title: Eur. J. Hum. Genet. doi: 10.1038/ejhg.2014.159 contributor: fullname: Berdal – volume: 40 start-page: S13 year: 2014 end-page: 18 ident: CR30 article-title: Pulp stem cells: Implication in reparative dentin formation publication-title: J. Endod. doi: 10.1016/j.joen.2014.01.011 contributor: fullname: Goldberg – volume: 17 start-page: 547 year: 1988 end-page: 553 ident: CR42 article-title: Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: Problems in classification publication-title: J. Oral Pathol. doi: 10.1111/j.1600-0714.1988.tb01332.x contributor: fullname: Witkop – volume: 4 start-page: 641 year: 2016 end-page: 661 ident: CR48 article-title: Enamel ribbons, surface nodules, and octacalcium phosphate in C57BL/6 Amelx-/- mice and Amelx+/- lyonization publication-title: Mol. Genet. Genomic Med. doi: 10.1002/mgg3.252 contributor: fullname: Hu – volume: 85 start-page: 329 year: 2006 end-page: 333 ident: CR7 article-title: Phenotypic variation in dentinogenesis imperfecta/dentin dysplasia linked to 4q21 publication-title: J. Dent. Res. doi: 10.1177/154405910608500409 contributor: fullname: Beattie – volume: 115 start-page: 248 year: 2004 end-page: 254 ident: CR45 article-title: A novel splice acceptor mutation in the DSPP gene causing dentinogenesis imperfecta type II publication-title: Hum. Genet. doi: 10.1007/s00439-004-1143-5 contributor: fullname: Kim – volume: 106 start-page: 963 year: 1998 end-page: 970 ident: CR22 article-title: Dentin sialoprotein, dentin phosphoprotein, enamelysin and ameloblastin: Tooth-specific molecules that are distinctively expressed during murine dental differentiation publication-title: Eur. J. Oral Sci. doi: 10.1046/j.0909-8836.1998.eos106510.x contributor: fullname: Butler – volume: 32 start-page: 59 year: 1998 end-page: 69 ident: CR28 article-title: A quantitative light microscopic study of the odontoblast and subodontoblastic reactions to active and arrested enamel caries without cavitation publication-title: Caries Res. doi: 10.1159/000016431 contributor: fullname: Thylstrup – volume: 46 start-page: 1214 year: 1972 end-page: 1217 ident: CR41 article-title: Amelogenesis imperfects: A case report of two siblings publication-title: J. Ga Dent. Assoc. contributor: fullname: Pike – volume: 119 start-page: 158 year: 2011 end-page: 167 ident: CR14 article-title: Enamel malformations associated with a defined dentin sialophosphoprotein mutation in two families publication-title: Eur. J. Oral Sci. doi: 10.1111/j.1600-0722.2011.00874.x contributor: fullname: Wang – volume: 7 start-page: 236 year: 1957 end-page: 239 ident: CR9 article-title: Hereditary defects in enamel and dentin publication-title: Acta Genet. Stat. Med. contributor: fullname: Witkop – volume: 39 start-page: 416 year: 2021 end-page: 422 ident: CR2 article-title: Clinical and genetic analysis in 185 Chinese probands of osteogenesis imperfecta publication-title: J. Bone Miner. Metab. doi: 10.1007/s00774-020-01163-5 contributor: fullname: Zhang – volume: 56 start-page: 267 year: 1983 end-page: 274 ident: CR40 article-title: Dentinogenesis imperfecta in the Brandywine isolate (DI type III): Clinical, radiologic, and scanning electron microscopic studies of the dentition publication-title: Oral Surg. Oral Med. Oral Pathol. doi: 10.1016/0030-4220(83)90008-7 contributor: fullname: Rosenbaum – volume: 4 start-page: 28 year: 2016 end-page: 38 ident: CR13 article-title: The dentin phosphoprotein repeat region and inherited defects of dentin publication-title: Mol. Genet. Genomic Med. doi: 10.1002/mgg3.176 contributor: fullname: Yang – volume: 13 start-page: e0195854 year: 2018 ident: CR32 article-title: Transgenic expression of dentin phosphoprotein (DPP) partially rescued the dentin defects of DSPP-null mice publication-title: PLoS ONE doi: 10.1371/journal.pone.0195854 contributor: fullname: Zhang – volume: 28 start-page: 1 year: 2021 end-page: 10 ident: CR31 article-title: Comparison and contrast of bone and dentin in genetic disorder, morphology and regeneration: A review publication-title: J. Bone Metab. doi: 10.11005/jbm.2021.28.1.1 contributor: fullname: Park – volume: 255 start-page: 5931 year: 1980 end-page: 5942 ident: CR1 article-title: Noncollagenous proteins of dentin. A re-examination of proteins from rat incisor dentin utilizing techniques to avoid artifacts publication-title: J. Biol. Chem. doi: 10.1016/S0021-9258(19)70720-0 contributor: fullname: Butler – volume: 179 start-page: 2393 year: 2019 end-page: 2419 ident: CR5 article-title: Nosology and classification of genetic skeletal disorders: 2019 revision publication-title: Am. J. Med. Genet. A doi: 10.1002/ajmg.a.61366 contributor: fullname: Mortier – volume: 133 start-page: 91 year: 2019 end-page: 118 ident: CR26 article-title: Regulatory mechanisms of jaw bone and tooth development publication-title: Curr. Top. Dev. Biol. doi: 10.1016/bs.ctdb.2018.12.013 contributor: fullname: Chai – volume: 12 start-page: 640558 year: 2021 ident: CR4 article-title: COL1-related disorders: Case report and review of overlapping syndromes publication-title: Front. Genet. doi: 10.3389/fgene.2021.640558 contributor: fullname: Gnoli – volume: 225 start-page: 257 year: 1989 end-page: 266 ident: CR21 article-title: A method for sampling the stages of amelogenesis on mandibular rat incisors using the molars as a reference for dissection publication-title: Anat. Rec. doi: 10.1002/ar.1092250312 contributor: fullname: Nanci – volume: 11 start-page: 1132 year: 2021 ident: CR47 article-title: Odontogenesis-associated phosphoprotein truncation blocks ameloblast transition into maturation in Odaph(C41*/C41*) mice publication-title: Sci. Rep. doi: 10.1038/s41598-020-80912-y contributor: fullname: Liang – volume: 23 start-page: 360 year: 2017 end-page: 366 ident: CR11 article-title: Phenotype and genotype analyses in seven families with dentinogenesis imperfecta or dentin dysplasia publication-title: Oral Dis. doi: 10.1111/odi.12621 contributor: fullname: Li – volume: 278 start-page: 24874 year: 2003 end-page: 24880 ident: CR10 article-title: Dentin sialophosphoprotein knockout mouse teeth display widened predentin zone and develop defective dentin mineralization similar to human dentinogenesis imperfecta type III publication-title: J. Biol. Chem. doi: 10.1074/jbc.M303908200 contributor: fullname: Sreenath – volume: 346 start-page: 1254390 year: 2014 ident: CR24 article-title: Evidence for a single loss of mineralized teeth in the common avian ancestor publication-title: Science doi: 10.1126/science.1254390 contributor: fullname: Springer – volume: 32 start-page: 278 year: 1971 end-page: 316 ident: CR38 article-title: Manifestations of genetic diseases in the human pulp publication-title: Oral Surg. Oral Med. Oral Pathol. doi: 10.1016/0030-4220(71)90232-5 contributor: fullname: Witkop – volume: 119 start-page: 217 year: 2011 end-page: 225 ident: CR20 article-title: Kallikrein-related peptidase 4, matrix metalloproteinase 20, and the maturation of murine and porcine enamel publication-title: Eur. J. Oral Sci. doi: 10.1111/j.1600-0722.2011.00859.x contributor: fullname: Simmer – volume: 12 start-page: 343 year: 1992 end-page: 351 ident: CR50 article-title: Isolation, characterization and immunolocalization of a 53-kDal dentin sialoprotein (DSP) publication-title: Matrix doi: 10.1016/S0934-8832(11)80030-2 contributor: fullname: Butler – volume: 9 start-page: 299 year: 2009 ident: CR23 article-title: Molecular evolution of dentin phosphoprotein among toothed and toothless animals publication-title: BMC Evol. Biol. doi: 10.1186/1471-2148-9-299 contributor: fullname: Fisher – volume: 186 start-page: 70 year: 2007 end-page: 77 ident: CR39 article-title: Disorders of human dentin publication-title: Cells Tissues Organs doi: 10.1159/000102682 contributor: fullname: Hart – volume: 44 start-page: 179 year: 2003 end-page: 183 ident: CR25 article-title: Dentin sialoprotein in bone and dentin sialophosphoprotein gene expressed by osteoblasts publication-title: Connect. Tissue Res. doi: 10.1080/03008200390152296 contributor: fullname: Butler – volume: 33 start-page: 50 year: 1999 end-page: 60 ident: CR29 article-title: A light microscopic study of odontoblastic and non-odontoblastic cells involved in tertiary dentinogenesis in well-defined cavitated carious lesions publication-title: Caries Res. doi: 10.1159/000016495 contributor: fullname: Darvann – volume: 98 start-page: 912 year: 2019 end-page: 919 ident: CR19 article-title: Mutant dentin sialophosphoprotein causes dentinogenesis imperfecta publication-title: J. Dent Res. doi: 10.1177/0022034519854029 contributor: fullname: Liang – volume: 51 start-page: 134 year: 2009 ident: CR33 article-title: Dentinogenesis and dentin sialophosphoprotein (DSPP) publication-title: J. Oral Biosci. doi: 10.1016/S1349-0079(09)80021-2 contributor: fullname: Yamakoshi – volume: 86 start-page: 392 year: 2007 end-page: 399 ident: CR3 article-title: Hereditary dentin defects publication-title: J. Dent. Res. doi: 10.1177/154405910708600502 contributor: fullname: Simmer – volume: 98 start-page: 4516 year: 2001 end-page: 4521 ident: CR35 article-title: Differentiation of embryonic mesenchymal cells to odontoblast-like cells by overexpression of dentin matrix protein 1 publication-title: Proc. Natl. Acad. Sci. U.S.A. doi: 10.1073/pnas.081075198 contributor: fullname: Narayanan – volume: 2013 start-page: 948181 year: 2013 ident: CR17 article-title: A DSPP mutation causing dentinogenesis imperfecta and characterization of the mutational effect publication-title: Biomed. Res. Int. contributor: fullname: Lee – volume: 52 start-page: 261 year: 2019 end-page: 266 ident: CR34 article-title: Dissecting dentine-pulp injury and wound healing responses: consequences for regenerative endodontics publication-title: Int. Endod. J. doi: 10.1111/iej.13064 contributor: fullname: Smith – volume: 255 start-page: 5931 year: 1980 ident: 219_CR1 publication-title: J. Biol. Chem. doi: 10.1016/S0021-9258(19)70720-0 contributor: fullname: A Linde – volume: 278 start-page: 24874 year: 2003 ident: 219_CR10 publication-title: J. Biol. Chem. doi: 10.1074/jbc.M303908200 contributor: fullname: T Sreenath – volume: 133 start-page: 91 year: 2019 ident: 219_CR26 publication-title: Curr. Top. Dev. Biol. doi: 10.1016/bs.ctdb.2018.12.013 contributor: fullname: Y Yuan – volume: 98 start-page: 912 year: 2019 ident: 219_CR19 publication-title: J. Dent Res. doi: 10.1177/0022034519854029 contributor: fullname: T Liang – volume: 27 start-page: 1309 year: 2012 ident: 219_CR12 publication-title: J. Bone Miner. Res. doi: 10.1002/jbmr.1573 contributor: fullname: Z von Marschall – volume: 86 start-page: 392 year: 2007 ident: 219_CR3 publication-title: J. Dent. Res. doi: 10.1177/154405910708600502 contributor: fullname: JW Kim – volume: 32 start-page: 278 year: 1971 ident: 219_CR38 publication-title: Oral Surg. Oral Med. Oral Pathol. doi: 10.1016/0030-4220(71)90232-5 contributor: fullname: CJ Witkop Jr – volume: 12 start-page: 640558 year: 2021 ident: 219_CR4 publication-title: Front. Genet. doi: 10.3389/fgene.2021.640558 contributor: fullname: M Gnoli – volume: 119 start-page: 158 year: 2011 ident: 219_CR14 publication-title: Eur. J. Oral Sci. doi: 10.1111/j.1600-0722.2011.00874.x contributor: fullname: SK Wang – volume: 13 start-page: e0195854 year: 2018 ident: 219_CR32 publication-title: PLoS ONE doi: 10.1371/journal.pone.0195854 contributor: fullname: H Zhang – volume: 40 start-page: S13 year: 2014 ident: 219_CR30 publication-title: J. Endod. doi: 10.1016/j.joen.2014.01.011 contributor: fullname: S Dimitrova-Nakov – volume: 99 start-page: 220 year: 2012 ident: 219_CR16 publication-title: Genomics doi: 10.1016/j.ygeno.2012.01.006 contributor: fullname: D Li – volume: 28 start-page: 1 year: 2021 ident: 219_CR31 publication-title: J. Bone Metab. doi: 10.11005/jbm.2021.28.1.1 contributor: fullname: J Kim – volume: 46 start-page: 1214 year: 1972 ident: 219_CR41 publication-title: J. Ga Dent. Assoc. contributor: fullname: JS Pike – volume: 52 start-page: 261 year: 2019 ident: 219_CR34 publication-title: Int. Endod. J. doi: 10.1111/iej.13064 contributor: fullname: HF Duncan – volume: 2013 start-page: 948181 year: 2013 ident: 219_CR17 publication-title: Biomed. Res. Int. contributor: fullname: SK Lee – volume: 115 start-page: 248 year: 2004 ident: 219_CR45 publication-title: Hum. Genet. doi: 10.1007/s00439-004-1143-5 contributor: fullname: JW Kim – volume: 4 start-page: 28 year: 2016 ident: 219_CR13 publication-title: Mol. Genet. Genomic Med. doi: 10.1002/mgg3.176 contributor: fullname: J Yang – volume: 3 start-page: 249 year: 1989 ident: 219_CR27 publication-title: Adv. Dent. Res. doi: 10.1177/08959374890030022601 contributor: fullname: J Palamara – volume: 119 start-page: 217 year: 2011 ident: 219_CR20 publication-title: Eur. J. Oral Sci. doi: 10.1111/j.1600-0722.2011.00859.x contributor: fullname: Y Hu – volume: 23 start-page: 360 year: 2017 ident: 219_CR11 publication-title: Oral Dis. doi: 10.1111/odi.12621 contributor: fullname: F Li – volume: 39 start-page: 416 year: 2021 ident: 219_CR2 publication-title: J. Bone Miner. Metab. doi: 10.1007/s00774-020-01163-5 contributor: fullname: L Xi – volume: 179 start-page: 2393 year: 2019 ident: 219_CR5 publication-title: Am. J. Med. Genet. A doi: 10.1002/ajmg.a.61366 contributor: fullname: GR Mortier – volume: 32 start-page: 59 year: 1998 ident: 219_CR28 publication-title: Caries Res. doi: 10.1159/000016431 contributor: fullname: L Bjorndal – volume: 87 start-page: 1108 year: 2008 ident: 219_CR44 publication-title: J. Dent. Res. doi: 10.1177/154405910808701217 contributor: fullname: DA McKnight – volume: 33 start-page: 50 year: 1999 ident: 219_CR29 publication-title: Caries Res. doi: 10.1159/000016495 contributor: fullname: L Bjorndal – volume: 106 start-page: 963 year: 1998 ident: 219_CR22 publication-title: Eur. J. Oral Sci. doi: 10.1046/j.0909-8836.1998.eos106510.x contributor: fullname: C Begue-Kirn – volume: 13 start-page: 611 year: 2005 ident: 219_CR36 publication-title: Gene Ther. doi: 10.1038/sj.gt.3302687 contributor: fullname: A Almushayt – volume: 6 start-page: 339 year: 2018 ident: 219_CR43 publication-title: Mol. Genet. Genomic Med. doi: 10.1002/mgg3.375 contributor: fullname: K Taleb – volume: 11 start-page: 593626 year: 2020 ident: 219_CR15 publication-title: Front. Physiol. doi: 10.3389/fphys.2020.593626 contributor: fullname: C Shi – volume: 4 start-page: 641 year: 2016 ident: 219_CR48 publication-title: Mol. Genet. Genomic Med. doi: 10.1002/mgg3.252 contributor: fullname: Y Hu – volume: 85 start-page: 329 year: 2006 ident: 219_CR7 publication-title: J. Dent. Res. doi: 10.1177/154405910608500409 contributor: fullname: ML Beattie – volume: 12 start-page: 343 year: 1992 ident: 219_CR50 publication-title: Matrix doi: 10.1016/S0934-8832(11)80030-2 contributor: fullname: WT Butler – volume: 9 start-page: 299 year: 2009 ident: 219_CR23 publication-title: BMC Evol. Biol. doi: 10.1186/1471-2148-9-299 contributor: fullname: DA McKnight – volume: 17 start-page: 547 year: 1988 ident: 219_CR42 publication-title: J. Oral Pathol. doi: 10.1111/j.1600-0714.1988.tb01332.x contributor: fullname: CJ Witkop Jr – volume: 346 start-page: 1254390 year: 2014 ident: 219_CR24 publication-title: Science doi: 10.1126/science.1254390 contributor: fullname: RW Meredith – volume: 98 start-page: 4516 year: 2001 ident: 219_CR35 publication-title: Proc. Natl. Acad. Sci. U.S.A. doi: 10.1073/pnas.081075198 contributor: fullname: K Narayanan – volume: 40 start-page: 593 year: 2014 ident: 219_CR46 publication-title: J. Oral Implantol. doi: 10.1563/AAID-JOI-D-12-00217 contributor: fullname: S Bencharit – volume: 7 start-page: 236 year: 1957 ident: 219_CR9 publication-title: Acta Genet. Stat. Med. contributor: fullname: CJ Witkop – volume: 23 start-page: 303 year: 2019 ident: 219_CR18 publication-title: Clin. Oral Investig. doi: 10.1007/s00784-018-2437-7 contributor: fullname: T Porntaveetus – volume: 56 start-page: 267 year: 1983 ident: 219_CR40 publication-title: Oral Surg. Oral Med. Oral Pathol. doi: 10.1016/0030-4220(83)90008-7 contributor: fullname: LS Levin – volume: 23 start-page: 445 year: 2015 ident: 219_CR8 publication-title: Eur. J. Hum. Genet. doi: 10.1038/ejhg.2014.159 contributor: fullname: M de La Dure-Molla – volume: 51 start-page: 134 year: 2009 ident: 219_CR33 publication-title: J. Oral Biosci. doi: 10.1016/S1349-0079(09)80021-2 contributor: fullname: Y Yamakoshi – volume: 9 start-page: 641 year: 1956 ident: 219_CR37 publication-title: Oral Surg. Oral Med. Oral Pathol. doi: 10.1016/0030-4220(56)90325-5 contributor: fullname: RJ Hursey Jr – volume: 7 start-page: e724 year: 2019 ident: 219_CR49 publication-title: Mol. Genet. Genomic Med. doi: 10.1002/mgg3.724 contributor: fullname: SK Wang – volume: 18 start-page: 543 year: 1973 ident: 219_CR6 publication-title: Arch. Oral Biol. doi: 10.1016/0003-9969(73)90075-7 contributor: fullname: ED Shields – volume: 44 start-page: 179 year: 2003 ident: 219_CR25 publication-title: Connect. Tissue Res. doi: 10.1080/03008200390152296 contributor: fullname: C Qin – volume: 11 start-page: 1132 year: 2021 ident: 219_CR47 publication-title: Sci. Rep. doi: 10.1038/s41598-020-80912-y contributor: fullname: T Liang – volume: 186 start-page: 70 year: 2007 ident: 219_CR39 publication-title: Cells Tissues Organs doi: 10.1159/000102682 contributor: fullname: PS Hart – volume: 225 start-page: 257 year: 1989 ident: 219_CR21 publication-title: Anat. Rec. doi: 10.1002/ar.1092250312 contributor: fullname: CE Smith |
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| Snippet | Non-syndromic inherited defects of tooth dentin are caused by two classes of dominant negative/gain-of-function mutations in dentin sialophosphoprotein (
DSPP... Non-syndromic inherited defects of tooth dentin are caused by two classes of dominant negative/gain-of-function mutations in dentin sialophosphoprotein (DSPP):... Abstract Non-syndromic inherited defects of tooth dentin are caused by two classes of dominant negative/gain-of-function mutations in dentin... |
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| Title | Mouse Dspp frameshift model of human dentinogenesis imperfecta |
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