메뉴 건너뛰기




Volumn 8, Issue 9, 2013, Pages

Identification of Six Novel PTH1R Mutations in Families with a History of Primary Failure of Tooth Eruption

Author keywords

[No Author keywords available]

Indexed keywords

MESSENGER RNA; PARATHYROID HORMONE RECEPTOR 1;

EID: 84884234958     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0074601     Document Type: Article
Times cited : (49)

References (27)
  • 1
    • 0019720971 scopus 로고
    • Primary failure of eruption: a possible cause of posterior open-bite
    • Proffit WR, Vig KW, (1981) Primary failure of eruption: a possible cause of posterior open-bite. Am J Orthod 80: 173-190.
    • (1981) Am J Orthod , vol.80 , pp. 173-190
    • Proffit, W.R.1    Vig, K.W.2
  • 2
    • 34247614559 scopus 로고    scopus 로고
    • Primary failure of eruption: further characterization of a rare eruption disorder
    • S0889-5406(07)00034-0 [pii]; [doi]10.1016/j.ajodo.2006.09.038
    • Frazier-Bowers SA, Koehler KE, Ackerman JL, Proffit WR, (2007) Primary failure of eruption: further characterization of a rare eruption disorder. Am J Orthod Dentofacial Orthop 131: 578-11 S0889-5406(07)00034-0 [pii]; 10.1016/j.ajodo.2006.09.038 [doi].
    • (2007) Am J Orthod Dentofacial Orthop , vol.131 , pp. 511-578
    • Frazier-Bowers, S.A.1    Koehler, K.E.2    Ackerman, J.L.3    Proffit, W.R.4
  • 3
    • 68049090890 scopus 로고    scopus 로고
    • Mechanism and control of tooth eruption: overview and clinical implications
    • OCR1438 [pii]; [doi] 10.1111/j.1601-6343.2009.01438.x
    • Proffit WR, Frazier-Bowers SA, (2009) Mechanism and control of tooth eruption: overview and clinical implications. Orthod Craniofac Res 12: 59-66 OCR1438 [pii]; 10.1111/j.1601-6343.2009.01438.x [doi].
    • (2009) Orthod Craniofac Res , vol.12 , pp. 59-66
    • Proffit, W.R.1    Frazier-Bowers, S.A.2
  • 5
    • 77951900955 scopus 로고    scopus 로고
    • Primary failure of eruption (PFE)-clinical and molecular genetics analysis
    • [doi] 10.1007/s00056-010-0908-9
    • Stellzig-Eisenhauer A, Decker E, Meyer-Marcotty P, Rau C, Fiebig BS, et al. (2010) Primary failure of eruption (PFE)-clinical and molecular genetics analysis. J Orofac Orthop 71: 6-16 10.1007/s00056-010-0908-9 [doi].
    • (2010) J Orofac Orthop , vol.71 , pp. 6-16
    • Stellzig-Eisenhauer, A.1    Decker, E.2    Meyer-Marcotty, P.3    Rau, C.4    Fiebig, B.S.5
  • 6
    • 57649099735 scopus 로고    scopus 로고
    • PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption
    • S0002-9297(08)00591-0 [pii]; [doi] 10.1016/j.ajhg.2008.11.006
    • Decker E, Stellzig-Eisenhauer A, Fiebig BS, Rau C, Kress W, et al. (2008) PTHR1 loss-of-function mutations in familial, nonsyndromic primary failure of tooth eruption. Am J Hum Genet 83: 781-786 S0002-9297(08)00591-0 [pii]; 10.1016/j.ajhg.2008.11.006 [doi].
    • (2008) Am J Hum Genet , vol.83 , pp. 781-786
    • Decker, E.1    Stellzig-Eisenhauer, A.2    Fiebig, B.S.3    Rau, C.4    Kress, W.5
  • 7
    • 75349091402 scopus 로고    scopus 로고
    • Primary failure of eruption and PTH1R: the importance of a genetic diagnosis for orthodontic treatment planning
    • S0889-5406(09)01157-3 [pii]; [doi] 10.1016/j.ajodo.2009.10.019
    • Frazier-Bowers SA, Simmons D, Wright JT, Proffit WR, Ackerman JL, (2010) Primary failure of eruption and PTH1R: the importance of a genetic diagnosis for orthodontic treatment planning. Am J Orthod Dentofacial Orthop 137: 160-167 S0889-5406(09)01157-3 [pii]; 10.1016/j.ajodo.2009.10.019 [doi].
    • (2010) Am J Orthod Dentofacial Orthop , vol.137 , pp. 160-167
    • Frazier-Bowers, S.A.1    Simmons, D.2    Wright, J.T.3    Proffit, W.R.4    Ackerman, J.L.5
  • 8
    • 77955859643 scopus 로고    scopus 로고
    • The etiology of eruption disorders - further evidence of a 'genetic paradigm
    • [doi] 10.1053/j.sodo.2010.05.003
    • Frazier-Bowers SA, Puranik CP, Mahaney MC, (2010) The etiology of eruption disorders- further evidence of a 'genetic paradigm'. Semin Orthod 16: 180-185 10.1053/j.sodo.2010.05.003 [doi].
    • (2010) Semin Orthod , vol.16 , pp. 180-185
    • Frazier-Bowers, S.A.1    Puranik, C.P.2    Mahaney, M.C.3
  • 9
    • 0032128253 scopus 로고    scopus 로고
    • Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia
    • [doi] 10.1172/JCI2918
    • Jobert AS, Zhang P, Couvineau A, Bonaventure J, Roume J, (1998) Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia. J Clin Invest 102: 34-40 10.1172/JCI2918 [doi].
    • (1998) J Clin Invest , vol.102 , pp. 34-40
    • Jobert, A.S.1    Zhang, P.2    Couvineau, A.3    Bonaventure, J.4    Roume, J.5
  • 10
    • 0031725947 scopus 로고    scopus 로고
    • Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand chondrodysplasia
    • Karaplis AC, He B, Nguyen MT, Young ID, Semeraro D, et al. (1998) Inactivating mutation in the human parathyroid hormone receptor type 1 gene in Blomstrand chondrodysplasia. Endocrinology 139: 5255-5258.
    • (1998) Endocrinology , vol.139 , pp. 5255-5258
    • Karaplis, A.C.1    He, B.2    Nguyen, M.T.3    Young, I.D.4    Semeraro, D.5
  • 11
    • 0031769483 scopus 로고    scopus 로고
    • A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia
    • Zhang P, Jobert AS, Couvineau A, Silve C, (1998) A homozygous inactivating mutation in the parathyroid hormone/parathyroid hormone-related peptide receptor causing Blomstrand chondrodysplasia. J Clin Endocrinol Metab 83: 3365-3368.
    • (1998) J Clin Endocrinol Metab , vol.83 , pp. 3365-3368
    • Zhang, P.1    Jobert, A.S.2    Couvineau, A.3    Silve, C.4
  • 12
    • 50849133856 scopus 로고    scopus 로고
    • PTHR1 mutations associated with Ollier disease result in receptor loss of function
    • ddn176 [pii]; [doi] 10.1172/JCI2918
    • Couvineau A, Wouters V, Bertrand G, Rouyer C, Gerard B, et al. (2008) PTHR1 mutations associated with Ollier disease result in receptor loss of function. Hum Mol Genet 17: 2766-2775 ddn176 [pii]; 10.1093/hmg/ddn176 [doi].
    • (2008) Hum Mol Genet , vol.17 , pp. 2766-2775
    • Couvineau, A.1    Wouters, V.2    Bertrand, G.3    Rouyer, C.4    Gerard, B.5
  • 13
    • 12344338238 scopus 로고    scopus 로고
    • Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes
    • ddi001 [pii]; [doi] 10.1093/hmg/ddi001
    • Duchatelet S, Ostergaard E, Cortes D, Lemainque A, Julier C, (2005) Recessive mutations in PTHR1 cause contrasting skeletal dysplasias in Eiken and Blomstrand syndromes. Hum Mol Genet 14: 1-5 ddi001 [pii]; 10.1093/hmg/ddi001 [doi].
    • (2005) Hum Mol Genet , vol.14 , pp. 1-5
    • Duchatelet, S.1    Ostergaard, E.2    Cortes, D.3    Lemainque, A.4    Julier, C.5
  • 14
    • 0028943780 scopus 로고
    • A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia
    • Schipani E, Kruse K, Juppner H, (1995) A constitutively active mutant PTH-PTHrP receptor in Jansen-type metaphyseal chondrodysplasia. Science 268: 98-100.
    • (1995) Science , vol.268 , pp. 98-100
    • Schipani, E.1    Kruse, K.2    Juppner, H.3
  • 15
    • 79959518940 scopus 로고    scopus 로고
    • Exome resequencing combined with linkage analysis identifies novel PTH1R variants in primary failure of tooth eruption in Japanese
    • [doi] 10.1002/jbmr.385
    • Yamaguchi T, Hosomichi K, Narita A, Shirota T, Tomoyasu Y, et al. (2011) Exome resequencing combined with linkage analysis identifies novel PTH1R variants in primary failure of tooth eruption in Japanese. J Bone Miner Res 26: 1655-1661 10.1002/jbmr.385 [doi].
    • (2011) J Bone Miner Res , vol.26 , pp. 1655-1661
    • Yamaguchi, T.1    Hosomichi, K.2    Narita, A.3    Shirota, T.4    Tomoyasu, Y.5
  • 16
    • 79551539775 scopus 로고    scopus 로고
    • SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3′ splice site
    • [doi] 10.1002/humu.21419
    • Doktor TK, Schroeder LD, Vested A, Palmfeldt J, Andersen HS, et al. (2011) SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3′ splice site. Hum Mutat 32: 220-230 10.1002/humu.21419 [doi].
    • (2011) Hum Mutat , vol.32 , pp. 220-230
    • Doktor, T.K.1    Schroeder, L.D.2    Vested, A.3    Palmfeldt, J.4    Andersen, H.S.5
  • 17
    • 34247197937 scopus 로고    scopus 로고
    • The nonsense-mediated decay RNA surveillance pathway
    • [doi] 10.1146/annurev.biochem.76.050106.093909
    • Chang YF, Imam JS, Wilkinson MF, (2007) The nonsense-mediated decay RNA surveillance pathway. Annu Rev Biochem 76: 51-74 10.1146/annurev.biochem.76.050106.093909 [doi].
    • (2007) Annu Rev Biochem , vol.76 , pp. 51-74
    • Chang, Y.F.1    Imam, J.S.2    Wilkinson, M.F.3
  • 18
    • 42449129086 scopus 로고    scopus 로고
    • Human branch point consensus sequence is yUnAy
    • gkn073 [pii]; [doi] 10.1093/nar/gkn073
    • Gao K, Masuda A, Matsuura T, Ohno K, (2008) Human branch point consensus sequence is yUnAy. Nucleic Acids Res 36: 2257-2267 gkn073 [pii]; 10.1093/nar/gkn073 [doi].
    • (2008) Nucleic Acids Res , vol.36 , pp. 2257-2267
    • Gao, K.1    Masuda, A.2    Matsuura, T.3    Ohno, K.4
  • 19
    • 2442441507 scopus 로고    scopus 로고
    • Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals
    • [doi] 10.1089/1066527041410418
    • Yeo G, Burge CB, (2004) Maximum entropy modeling of short sequence motifs with applications to RNA splicing signals. J Comput Biol 11: 377-394 10.1089/1066527041410418 [doi].
    • (2004) J Comput Biol , vol.11 , pp. 377-394
    • Yeo, G.1    Burge, C.B.2
  • 20
    • 85047676713 scopus 로고    scopus 로고
    • Tooth anomalies associated with failure of eruption of first and second permanent molars
    • S0889-5406(00)11825-6 [pii]; [doi] 10.1067/mod.2000.97938
    • Baccetti T, (2000) Tooth anomalies associated with failure of eruption of first and second permanent molars. Am J Orthod Dentofacial Orthop 118: 608-610 S0889-5406(00)11825-6 [pii]; 10.1067/mod.2000.97938 [doi].
    • (2000) Am J Orthod Dentofacial Orthop , vol.118 , pp. 608-610
    • Baccetti, T.1
  • 21
    • 79961187826 scopus 로고    scopus 로고
    • AG-dependent 3′-splice sites are predisposed to aberrant splicing due to a mutation at the first nucleotide of an exon
    • gkr026 [pii]; [doi] 10.1093/nar/gkr026
    • Fu Y, Masuda A, Ito M, Shinmi J, Ohno K, (2011) AG-dependent 3′-splice sites are predisposed to aberrant splicing due to a mutation at the first nucleotide of an exon. Nucleic Acids Res 39: 4396-4404 gkr026 [pii]; 10.1093/nar/gkr026 [doi].
    • (2011) Nucleic Acids Res , vol.39 , pp. 4396-4404
    • Fu, Y.1    Masuda, A.2    Ito, M.3    Shinmi, J.4    Ohno, K.5
  • 22
    • 0032735547 scopus 로고    scopus 로고
    • Receptors for PTH and PTHrP: their biological importance and functional properties
    • Mannstadt M, Juppner H, Gardella TJ, (1999) Receptors for PTH and PTHrP: their biological importance and functional properties. Am J Physiol 277: F665-F675.
    • (1999) Am J Physiol , vol.277
    • Mannstadt, M.1    Juppner, H.2    Gardella, T.J.3
  • 23
    • 0031916976 scopus 로고    scopus 로고
    • The physiology of parathyroid hormone-related protein: an emerging role as a developmental factor
    • [doi] 10.1146/annurev.physiol.60.1.431
    • Wysolmerski JJ, Stewart AF, (1998) The physiology of parathyroid hormone-related protein: an emerging role as a developmental factor. Annu Rev Physiol 60: 431-460 10.1146/annurev.physiol.60.1.431 [doi].
    • (1998) Annu Rev Physiol , vol.60 , pp. 431-460
    • Wysolmerski, J.J.1    Stewart, A.F.2
  • 24
    • 33947538466 scopus 로고    scopus 로고
    • Novel mutations in the parathyroid hormone (PTH)/PTH-related peptide receptor type 1 causing Blomstrand osteochondrodysplasia types I and II
    • jc.2006-0300 [pii]; [doi] 10.1210/jc.2006-0300
    • Hoogendam J, Farih-Sips H, Wynaendts LC, Lowik CW, Wit JM, et al. (2007) Novel mutations in the parathyroid hormone (PTH)/PTH-related peptide receptor type 1 causing Blomstrand osteochondrodysplasia types I and II. J Clin Endocrinol Metab 92: 1088-1095 jc.2006-0300 [pii]; 10.1210/jc.2006-0300 [doi].
    • (2007) J Clin Endocrinol Metab , vol.92 , pp. 1088-1095
    • Hoogendam, J.1    Farih-Sips, H.2    Wynaendts, L.C.3    Lowik, C.W.4    Wit, J.M.5
  • 25
    • 0033305406 scopus 로고    scopus 로고
    • A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH-related peptide receptor causing Blomstrand lethal osteochondrodysplasia
    • Karperien M, van der Harten HJ, van SR, Farih-Sips H, den Hollander NS, et al. (1999) A frame-shift mutation in the type I parathyroid hormone (PTH)/PTH-related peptide receptor causing Blomstrand lethal osteochondrodysplasia. J Clin Endocrinol Metab 84: 3713-3720.
    • (1999) J Clin Endocrinol Metab , vol.84 , pp. 3713-3720
    • Karperien, M.1    van der Harten, H.J.2    van, S.R.3    Farih-Sips, H.4    den Hollander, N.S.5
  • 26
    • 78650057412 scopus 로고    scopus 로고
    • Role of PTH1R internalization in osteoblasts and bone mass using a phosphorylation-deficient knock-in mouse model
    • JOE-10-0227 [pii]; [doi] 10.1677/JOE-10-0227
    • Datta NS, Samra TA, Mahalingam CD, Datta T, Abou-Samra AB, (2010) Role of PTH1R internalization in osteoblasts and bone mass using a phosphorylation-deficient knock-in mouse model. J Endocrinol 207: 355-365 JOE-10-0227 [pii]; 10.1677/JOE-10-0227 [doi].
    • (2010) J Endocrinol , vol.207 , pp. 355-365
    • Datta, N.S.1    Samra, T.A.2    Mahalingam, C.D.3    Datta, T.4    Abou-Samra, A.B.5
  • 27
    • 0035035010 scopus 로고    scopus 로고
    • Absence of functional type 1 parathyroid hormone (PTH)/PTH-related protein receptors in humans is associated with abnormal breast development and tooth impaction
    • Wysolmerski JJ, Cormier S, Philbrick WM, Dann P, Zhang JP, et al. (2001) Absence of functional type 1 parathyroid hormone (PTH)/PTH-related protein receptors in humans is associated with abnormal breast development and tooth impaction. J Clin Endocrinol Metab 86: 1788-1794.
    • (2001) J Clin Endocrinol Metab , vol.86 , pp. 1788-1794
    • Wysolmerski, J.J.1    Cormier, S.2    Philbrick, W.M.3    Dann, P.4    Zhang, J.P.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.