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Volumn 119, Issue 2, 2015, Pages e77-e81

Hypomaturation amelogenesis imperfecta caused by a novel SLC24A4 mutation

Author keywords

[No Author keywords available]

Indexed keywords

ANTIPORTER; SLC24A4 PROTEIN, HUMAN;

EID: 84920699268     PISSN: 22124403     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.oooo.2014.09.003     Document Type: Article
Times cited : (30)

References (41)
  • 1
    • 84862958823 scopus 로고
    • Heterogeneity in inherited dental traits, gingival fibromatosis and amelogenesis imperfecta
    • C.J. Witkop Jr. Heterogeneity in inherited dental traits, gingival fibromatosis and amelogenesis imperfecta South Med J 64 Suppl 1 1971 16 25
    • (1971) South Med J , vol.64 , Issue.SUPPL. 1 , pp. 16-25
    • Witkop, Jr.C.J.1
  • 2
    • 0024117250 scopus 로고
    • Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: Problems in classification
    • C.J. Witkop Jr. Amelogenesis imperfecta, dentinogenesis imperfecta and dentin dysplasia revisited: problems in classification J Oral Pathol 17 1989 547 553
    • (1989) J Oral Pathol , vol.17 , pp. 547-553
    • Witkop, Jr.C.J.1
  • 3
    • 61749084322 scopus 로고    scopus 로고
    • Brachyolmia with amelogenesis imperfecta: Further evidence of a distinct entity
    • D.R. Bertola, R. Antequera, and M.J. Rodovalho Brachyolmia with amelogenesis imperfecta: further evidence of a distinct entity Am J Med Genet A 149A 2009 532 534
    • (2009) Am J Med Genet A , vol.149 A , pp. 532-534
    • Bertola, D.R.1    Antequera, R.2    Rodovalho, M.J.3
  • 4
    • 84941021107 scopus 로고
    • Hereditary defects in enamel and dentin
    • C.J. Witkop Hereditary defects in enamel and dentin Acta Genet Stat Med 7 1957 236 239
    • (1957) Acta Genet Stat Med , vol.7 , pp. 236-239
    • Witkop, C.J.1
  • 5
    • 84872191021 scopus 로고    scopus 로고
    • Laminin 332 in junctional epidermolysis bullosa
    • D. Kiritsi, C. Has, and L. Bruckner-Tuderman Laminin 332 in junctional epidermolysis bullosa Cell Adh Migr 7 2013 135 141
    • (2013) Cell Adh Migr , vol.7 , pp. 135-141
    • Kiritsi, D.1    Has, C.2    Bruckner-Tuderman, L.3
  • 6
    • 0025740360 scopus 로고
    • A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1)
    • M. Lagerström, N. Dahl, and Y. Nakahori A deletion in the amelogenin gene (AMG) causes X-linked amelogenesis imperfecta (AIH1) Genomics 10 1991 971 975
    • (1991) Genomics , vol.10 , pp. 971-975
    • Lagerström, M.1    Dahl, N.2    Nakahori, Y.3
  • 7
    • 0035422249 scopus 로고    scopus 로고
    • Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta
    • M.H. Rajpar, K. Harley, C. Laing, R.M. Davies, and M.J. Dixon Mutation of the gene encoding the enamel-specific protein, enamelin, causes autosomal-dominant amelogenesis imperfecta Hum Mol Genet 10 2001 1673 1677
    • (2001) Hum Mol Genet , vol.10 , pp. 1673-1677
    • Rajpar, M.H.1    Harley, K.2    Laing, C.3    Davies, R.M.4    Dixon, M.J.5
  • 8
    • 84928407335 scopus 로고    scopus 로고
    • Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta
    • J.A. Poulter, G. Murillo, and S.J. Brookes Deletion of ameloblastin exon 6 is associated with amelogenesis imperfecta Hum Mol Genet 23 2014 5317 5324
    • (2014) Hum Mol Genet , vol.23 , pp. 5317-5324
    • Poulter, J.A.1    Murillo, G.2    Brookes, S.J.3
  • 9
    • 15044355868 scopus 로고    scopus 로고
    • MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta
    • J.W. Kim, J.P. Simmer, and T.C. Hart MMP-20 mutation in autosomal recessive pigmented hypomaturation amelogenesis imperfecta J Med Genet 42 2005 271 275
    • (2005) J Med Genet , vol.42 , pp. 271-275
    • Kim, J.W.1    Simmer, J.P.2    Hart, T.C.3
  • 10
    • 40749109023 scopus 로고    scopus 로고
    • FAM83 H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta
    • J.W. Kim, S.K. Lee, and Z.H. Lee FAM83 H mutations in families with autosomal-dominant hypocalcified amelogenesis imperfecta Am J Hum Genet 82 2008 489 494
    • (2008) Am J Hum Genet , vol.82 , pp. 489-494
    • Kim, J.W.1    Lee, S.K.2    Lee, Z.H.3
  • 11
    • 84897881636 scopus 로고    scopus 로고
    • ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta
    • S.K. Wang, M. Choi, and A.S. Richardson ITGB6 loss-of-function mutations cause autosomal recessive amelogenesis imperfecta Hum Mol Genet 23 2014 2157 2163
    • (2014) Hum Mol Genet , vol.23 , pp. 2157-2163
    • Wang, S.K.1    Choi, M.2    Richardson, A.S.3
  • 12
    • 84920670799 scopus 로고    scopus 로고
    • A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta
    • J.A. Poulter, S.J. Brookes, and R.C. Shore A missense mutation in ITGB6 causes pitted hypomineralized amelogenesis imperfecta Hum Mol Genet 18 2013 18
    • (2013) Hum Mol Genet , vol.18 , pp. 18
    • Poulter, J.A.1    Brookes, S.J.2    Shore, R.C.3
  • 13
    • 84866112656 scopus 로고    scopus 로고
    • Mutations in C4 orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta
    • D.A. Parry, S.J. Brookes, and C.V. Logan Mutations in C4 orf26, encoding a peptide with in vitro hydroxyapatite crystal nucleation and growth activity, cause amelogenesis imperfecta Am J Hum Genet 91 2012 565 571
    • (2012) Am J Hum Genet , vol.91 , pp. 565-571
    • Parry, D.A.1    Brookes, S.J.2    Logan, C.V.3
  • 14
    • 3142773337 scopus 로고    scopus 로고
    • Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta
    • P.S. Hart, T.C. Hart, and M.D. Michalec Mutation in kallikrein 4 causes autosomal recessive hypomaturation amelogenesis imperfecta J Med Genet 41 2004 545 549
    • (2004) J Med Genet , vol.41 , pp. 545-549
    • Hart, P.S.1    Hart, T.C.2    Michalec, M.D.3
  • 15
    • 72149121577 scopus 로고    scopus 로고
    • Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta
    • W. El-Sayed, D.A. Parry, and R.C. Shore Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta Am J Hum Genet 85 2009 699 705
    • (2009) Am J Hum Genet , vol.85 , pp. 699-705
    • El-Sayed, W.1    Parry, D.A.2    Shore, R.C.3
  • 16
    • 84873729845 scopus 로고    scopus 로고
    • Identification of mutations in SLC24 A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta
    • D.A. Parry, J.A. Poulter, and C.V. Logan Identification of mutations in SLC24 A4, encoding a potassium-dependent sodium/calcium exchanger, as a cause of amelogenesis imperfecta Am J Hum Genet 92 2013 307 312
    • (2013) Am J Hum Genet , vol.92 , pp. 307-312
    • Parry, D.A.1    Poulter, J.A.2    Logan, C.V.3
  • 17
    • 0029897474 scopus 로고    scopus 로고
    • Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition
    • J.A. McGrath, B. Gatalica, and K. Li Compound heterozygosity for a dominant glycine substitution and a recessive internal duplication mutation in the type XVII collagen gene results in junctional epidermolysis bullosa and abnormal dentition Am J Pathol 148 1996 1787 1796
    • (1996) Am J Pathol , vol.148 , pp. 1787-1796
    • McGrath, J.A.1    Gatalica, B.2    Li, K.3
  • 18
    • 84884267241 scopus 로고    scopus 로고
    • LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta
    • J.W. Kim, F. Seymen, and K.E. Lee LAMB3 mutations causing autosomal-dominant amelogenesis imperfecta J Dent Res 92 2013 899 904
    • (2013) J Dent Res , vol.92 , pp. 899-904
    • Kim, J.W.1    Seymen, F.2    Lee, K.E.3
  • 19
    • 84890803937 scopus 로고    scopus 로고
    • Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta
    • J.A. Poulter, W. El-Sayed, R.C. Shore, J. Kirkham, C.F. Inglehearn, and A.J. Mighell Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta Eur J Hum Genet 22 2014 132 135
    • (2014) Eur J Hum Genet , vol.22 , pp. 132-135
    • Poulter, J.A.1    El-Sayed, W.2    Shore, R.C.3    Kirkham, J.4    Inglehearn, C.F.5    Mighell, A.J.6
  • 20
    • 62649129806 scopus 로고    scopus 로고
    • Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta
    • D.A. Parry, A.J. Mighell, and W. El-Sayed Mutations in CNNM4 cause Jalili syndrome, consisting of autosomal-recessive cone-rod dystrophy and amelogenesis imperfecta Am J Hum Genet 84 2009 266 273
    • (2009) Am J Hum Genet , vol.84 , pp. 266-273
    • Parry, D.A.1    Mighell, A.J.2    El-Sayed, W.3
  • 21
    • 79955836955 scopus 로고    scopus 로고
    • Whole-exome sequencing identifies FAM20 A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome
    • J. O'Sullivan, C.C. Bitu, and S.B. Daly Whole-exome sequencing identifies FAM20 A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome Am J Hum Genet 88 2011 616 620
    • (2011) Am J Hum Genet , vol.88 , pp. 616-620
    • O'Sullivan, J.1    Bitu, C.C.2    Daly, S.B.3
  • 22
    • 84874098001 scopus 로고    scopus 로고
    • FAM20 A mutations can cause enamel-renal syndrome (ERS)
    • S.K. Wang, P. Aref, and Y. Hu FAM20 A mutations can cause enamel-renal syndrome (ERS) PLoS Genet 9 2013 e1003302
    • (2013) PLoS Genet , vol.9 , pp. e1003302
    • Wang, S.K.1    Aref, P.2    Hu, Y.3
  • 23
    • 0031912018 scopus 로고    scopus 로고
    • Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome
    • J.A. Price, D.W. Bowden, J.T. Wright, M.J. Pettenati, and T.C. Hart Identification of a mutation in DLX3 associated with tricho-dento-osseous (TDO) syndrome Hum Mol Genet 7 1998 563 569
    • (1998) Hum Mol Genet , vol.7 , pp. 563-569
    • Price, J.A.1    Bowden, D.W.2    Wright, J.T.3    Pettenati, M.J.4    Hart, T.C.5
  • 24
    • 33646576875 scopus 로고    scopus 로고
    • A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function
    • S. Feske, Y. Gwack, and M. Prakriya A mutation in Orai1 causes immune deficiency by abrogating CRAC channel function Nature 441 2006 179 185
    • (2006) Nature , vol.441 , pp. 179-185
    • Feske, S.1    Gwack, Y.2    Prakriya, M.3
  • 25
    • 65649088588 scopus 로고    scopus 로고
    • STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity
    • C. Picard, C.A. McCarl, and A. Papolos STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunity N Engl J Med 360 2009 1971 1980
    • (2009) N Engl J Med , vol.360 , pp. 1971-1980
    • Picard, C.1    McCarl, C.A.2    Papolos, A.3
  • 26
    • 84964314391 scopus 로고    scopus 로고
    • STIM1 and SLC24 A4 are critical for enamel maturation
    • S.-K. Wang, M. Choi, and A. Richardson STIM1 and SLC24 A4 are critical for enamel maturation J Dent Res 93 2014 94 100
    • (2014) J Dent Res , vol.93 , pp. 94-100
    • Wang, S.-K.1    Choi, M.2    Richardson, A.3
  • 27
    • 34548513541 scopus 로고    scopus 로고
    • Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: A case report with a novel mutation in the connexin 43 gene
    • R.J. van Es, D. Wittebol-Post, and F.A. Beemer Oculodentodigital dysplasia with mandibular retrognathism and absence of syndactyly: a case report with a novel mutation in the connexin 43 gene Int J Oral Maxillofac Surg 36 2007 858 860
    • (2007) Int J Oral Maxillofac Surg , vol.36 , pp. 858-860
    • Van Es, R.J.1    Wittebol-Post, D.2    Beemer, F.A.3
  • 29
    • 84859502220 scopus 로고    scopus 로고
    • Mutations in ROGDI cause Kohlschutter-Tonz syndrome
    • A. Schossig, N.I. Wolf, and C. Fischer Mutations in ROGDI cause Kohlschutter-Tonz syndrome Am J Hum Genet 90 2012 701 707
    • (2012) Am J Hum Genet , vol.90 , pp. 701-707
    • Schossig, A.1    Wolf, N.I.2    Fischer, C.3
  • 30
    • 0242438883 scopus 로고    scopus 로고
    • Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation
    • K.P. Burdon, J.D. McKay, and M.M. Sale Mutations in a novel gene, NHS, cause the pleiotropic effects of Nance-Horan syndrome, including severe congenital cataract, dental anomalies, and mental retardation Am J Hum Genet 73 2003 1120 1130
    • (2003) Am J Hum Genet , vol.73 , pp. 1120-1130
    • Burdon, K.P.1    McKay, J.D.2    Sale, M.M.3
  • 31
    • 2242451442 scopus 로고    scopus 로고
    • Molecular cloning of a fourth member of the potassium-dependent sodium-calcium exchanger gene family, NCKX4
    • X.F. Li, A.S. Kraev, and J. Lytton Molecular cloning of a fourth member of the potassium-dependent sodium-calcium exchanger gene family, NCKX4 J Biol Chem 277 2002 48410 48417
    • (2002) J Biol Chem , vol.277 , pp. 48410-48417
    • Li, X.F.1    Kraev, A.S.2    Lytton, J.3
  • 32
    • 0031968437 scopus 로고    scopus 로고
    • Cellular and chemical events during enamel maturation
    • C.E. Smith Cellular and chemical events during enamel maturation Crit Rev Oral Biol Med 9 1998 128 161
    • (1998) Crit Rev Oral Biol Med , vol.9 , pp. 128-161
    • Smith, C.E.1
  • 33
    • 84920660946 scopus 로고    scopus 로고
    • Exonal deletion of SLC24 A4 causes hypomaturation amelogenesis imperfecta
    • F. Seymen, K.E. Lee, and C.G. Tran Le Exonal deletion of SLC24 A4 causes hypomaturation amelogenesis imperfecta J Dent Res 14 2014 14
    • (2014) J Dent Res , vol.14 , pp. 14
    • Seymen, F.1    Lee, K.E.2    Tran Le, C.G.3
  • 34
    • 84975742565 scopus 로고    scopus 로고
    • A map of human genome variation from population-scale sequencing
    • 1000 Genomes Project Consortium
    • 1000 Genomes Project Consortium A map of human genome variation from population-scale sequencing Nature 467 2010 1061 1073
    • (2010) Nature , vol.467 , pp. 1061-1073
  • 35
    • 77951640946 scopus 로고    scopus 로고
    • A method and server for predicting damaging missense mutations
    • I.A. Adzhubei, S. Schmidt, and L. Peshkin A method and server for predicting damaging missense mutations Nat Methods 7 2010 248 249
    • (2010) Nat Methods , vol.7 , pp. 248-249
    • Adzhubei, I.A.1    Schmidt, S.2    Peshkin, L.3
  • 37
    • 80051787096 scopus 로고    scopus 로고
    • Amelogenesis imperfecta: Genotype-phenotype studies in 71 families
    • J.T. Wright, M. Torain, and K. Long Amelogenesis imperfecta: genotype-phenotype studies in 71 families Cells Tissues Organs 194 2011 279 283
    • (2011) Cells Tissues Organs , vol.194 , pp. 279-283
    • Wright, J.T.1    Torain, M.2    Long, K.3
  • 38
    • 84881318075 scopus 로고    scopus 로고
    • Autosomal dominant amelogenesis imperfecta associated with ENAM frameshift mutation p.Asn36 Ilefs56
    • S. Simmer, N. Estrella, R. Milkovich, and J. Hu Autosomal dominant amelogenesis imperfecta associated with ENAM frameshift mutation p.Asn36 Ilefs56 Clin Genet 29 2012 1 3
    • (2012) Clin Genet , vol.29 , pp. 1-3
    • Simmer, S.1    Estrella, N.2    Milkovich, R.3    Hu, J.4
  • 39
    • 84874097203 scopus 로고    scopus 로고
    • Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing
    • S.K. Wang, Y. Hu, and J.P. Simmer Novel KLK4 and MMP20 mutations discovered by whole-exome sequencing J Dent Res 92 2013 266 271
    • (2013) J Dent Res , vol.92 , pp. 266-271
    • Wang, S.K.1    Hu, Y.2    Simmer, J.P.3
  • 40
    • 84902173195 scopus 로고    scopus 로고
    • FORGE Canada Consortium: Outcomes of a 2-year national rare-disease gene-discovery project
    • C.L. Beaulieu, J. Majewski, and J. Schwartzentruber FORGE Canada Consortium: outcomes of a 2-year national rare-disease gene-discovery project Am J Hum Genet 94 2014 809 817
    • (2014) Am J Hum Genet , vol.94 , pp. 809-817
    • Beaulieu, C.L.1    Majewski, J.2    Schwartzentruber, J.3
  • 41
    • 84655162330 scopus 로고    scopus 로고
    • The Na(+)/Ca(2+) exchanger NCKX4 governs termination and adaptation of the mammalian olfactory response
    • A.B. Stephan, S. Tobochnik, M. Dibattista, C.M. Wall, J. Reisert, and H. Zhao The Na(+)/Ca(2+) exchanger NCKX4 governs termination and adaptation of the mammalian olfactory response Nat Neurosci 15 2011 131 137
    • (2011) Nat Neurosci , vol.15 , pp. 131-137
    • Stephan, A.B.1    Tobochnik, S.2    Dibattista, M.3    Wall, C.M.4    Reisert, J.5    Zhao, H.6


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