메뉴 건너뛰기




Volumn 37, Issue 6, 2010, Pages 754-766

Family-based study of association between ENPP1 genetic variants and craniofacial morphology

Author keywords

FBAT; Genetic; Head; Normal variability; SNPs

Indexed keywords

ECTONUCLEOTIDE PYROPHOSPHATASE PHOSPHODIESTERASE 1; INORGANIC PYROPHOSPHATASE; PHOSPHODIESTERASE;

EID: 77958586684     PISSN: 03014460     EISSN: 14645033     Source Type: Journal    
DOI: 10.3109/03014461003639231     Document Type: Article
Times cited : (10)

References (53)
  • 1
    • 34447538396 scopus 로고    scopus 로고
    • Pyrophosphate inhibits mineralization of osteoblast cultures by binding to mineral, up-regulating osteopontin, and inhibiting alkaline phosphatase activity
    • 754-766 Addison WN, Azari F, Sørensen ES, Kaartinen MT, McKee MD. 2007. Pyrophosphate inhibits mineralization of osteoblast cultures by binding to mineral, up-regulating osteopontin, and inhibiting alkaline phosphatase activity. J Biol Chem 282:15872-15883.
    • (2007) J Biol Chem , vol.282 , pp. 15872-15883
    • Addison, W.N.1    Azari, F.2    Sørensen, E.S.3    Kaartinen, M.T.4    McKee, M.D.5
  • 2
    • 34547681622 scopus 로고    scopus 로고
    • A review of the literature on the aging adult skull and face: Implications for forensic science research and applications
    • Albert AM, Ricanek K, Patterson E. 2007. A review of the literature on the aging adult skull and face: Implications for forensic science research and applications. Forensic Sci Int 172:1-9.
    • (2007) Forensic Sci Int , vol.172 , pp. 1-9
    • Albert, A.M.1    Ricanek, K.2    Patterson, E.3
  • 4
    • 0042665576 scopus 로고    scopus 로고
    • Inorganic phosphate regulates multiple genes during osteoblast differentiation, including Nrf2
    • Beck GR Jr, Moran E, Knecht N. 2003. Inorganic phosphate regulates multiple genes during osteoblast differentiation, including Nrf2. Exp Cell Res 288:288-300.
    • (2003) Exp Cell Res , vol.288 , pp. 288-300
    • Beck Jr., G.R.1    Moran, E.2    Knecht, N.3
  • 5
    • 0035733108 scopus 로고    scopus 로고
    • The control of the false discovery rate in multiple testing under dependency
    • Benjamini Y, Yekutieli D. 2001. The control of the false discovery rate in multiple testing under dependency. Ann Stat 29:1165-1188.
    • (2001) Ann Stat , vol.29 , pp. 1165-1188
    • Benjamini, Y.1    Yekutieli, D.2
  • 6
    • 33750595696 scopus 로고    scopus 로고
    • New polymorphism of ENPP1 (PC-1) is associated with increased risk of type 2 diabetes among obese individuals
    • Bochenski J, Placha G, Wanic K, Malecki M, Sieradzki J, Warram JH, Krolewski AS. 2006. New polymorphism of ENPP1 (PC-1) is associated with increased risk of type 2 diabetes among obese individuals. Diabetes 55: 2626-2630.
    • (2006) Diabetes , vol.55 , pp. 2626-2630
    • Bochenski, J.1    Placha, G.2    Wanic, K.3    Malecki, M.4    Sieradzki, J.5    Warram, J.H.6    Krolewski, A.S.7
  • 7
    • 33748296370 scopus 로고    scopus 로고
    • Recent advances in craniofacial morphogenesis
    • Chai Y, Maxson RE Jr. 2006. Recent advances in craniofacial morphogenesis. Dev Dyn 235:2353-2375.
    • (2006) Dev Dyn , vol.235 , pp. 2353-2375
    • Chai, Y.1    Maxson Jr., R.E.2
  • 9
    • 0014691198 scopus 로고
    • Purification and properties of a nucleoside triphosphate pyrophosphohydrolase from red cells of the rabbit
    • Chern CJ, Mac Donald AB, Morris AJ. 1969. Purification and properties of a nucleoside triphosphate pyrophosphohydrolase from red cells of the rabbit. J Biol Chem 244:5489-5495.
    • (1969) J Biol Chem , vol.244 , pp. 5489-5495
    • Chern, C.J.1    Mac Donald, A.B.2    Morris, A.J.3
  • 11
    • 16244383218 scopus 로고    scopus 로고
    • Linkage disequilibrium analysis identifies an FGFR1 haplotype-tag SNP associated with normal variation in craniofacial shape
    • Coussens AK, van Daal A. 2005. Linkage disequilibrium analysis identifies an FGFR1 haplotype-tag SNP associated with normal variation in craniofacial shape. Genomics 85:563-573.
    • (2005) Genomics , vol.85 , pp. 563-573
    • Coussens, A.K.1    Van Daal, A.2
  • 12
    • 17544386102 scopus 로고    scopus 로고
    • Characterization of the marriage structure and migration in Chuvash population
    • El'chinova GI, Ginter EK. 2001. Characterization of the marriage structure and migration in Chuvash population. Genetika 37:536-539.
    • (2001) Genetika , vol.37 , pp. 536-539
    • El'Chinova, G.I.1    Ginter, E.K.2
  • 13
    • 0004206227 scopus 로고
    • Philadelphia, PA: Saunders
    • Enlow DH. 1990. Facial growth. Philadelphia, PA: Saunders.
    • (1990) Facial Growth
    • Enlow, D.H.1
  • 14
    • 27844510790 scopus 로고    scopus 로고
    • Quantitative genetic study of head size related phenotypes in ethnically homogeneous Chuvacha pedigrees
    • Ermakov S, Kobyliansky E, Livshits G. 2005. Quantitative genetic study of head size related phenotypes in ethnically homogeneous Chuvacha pedigrees. Ann Hum Biol 32:585-598.
    • (2005) Ann Hum Biol , vol.32 , pp. 585-598
    • Ermakov, S.1    Kobyliansky, E.2    Livshits, G.3
  • 15
    • 77951258759 scopus 로고    scopus 로고
    • Association of ALPL and ENPP1 gene polymorphisms with bone strength related skeletal traits in a Chuvashian population
    • Ermakov S, Toliat MR, Cohen Z, Malkin I, Altmüller J, Livshits G, Nürnberg P. 2010. Association of ALPL and ENPP1 gene polymorphisms with bone strength related skeletal traits in a Chuvashian population. Bone 46:1244-1250.
    • (2010) Bone , vol.46 , pp. 1244-1250
    • Ermakov, S.1    Toliat, M.R.2    Cohen, Z.3    Malkin, I.4    Altmüller, J.5    Livshits, G.6    Nürnberg, P.7
  • 17
    • 14644427755 scopus 로고    scopus 로고
    • Bone development: Interaction of molecular components and biophysical forces
    • Forriol F, Shapiro F. 2005. Bone development: Interaction of molecular components and biophysical forces. Clin Orthop Relat Res 432:14-33.
    • (2005) Clin Orthop Relat Res , vol.432 , pp. 14-33
    • Forriol, F.1    Shapiro, F.2
  • 20
    • 1642313676 scopus 로고    scopus 로고
    • Concerted regulation of inorganic pyrophosphate and osteopontin by akp2, enpp1, and ank: An integrated model of the pathogenesis of mineralization disorders
    • Harmey D, Hessle L, Narisawa S, Johnson KA, Terkeltaub R, Millan JL. 2004. Concerted regulation of inorganic pyrophosphate and osteopontin by akp2, enpp1, and ank: An integrated model of the pathogenesis of mineralization disorders. Am J Pathol 164:1199-1209.
    • (2004) Am J Pathol , vol.164 , pp. 1199-1209
    • Harmey, D.1    Hessle, L.2    Narisawa, S.3    Johnson, K.A.4    Terkeltaub, R.5    Millan, J.L.6
  • 21
    • 0035055544 scopus 로고    scopus 로고
    • The family based association test method: Strategies for studying general genotype-phenotype associations
    • Horvath S, Xu X, Laird NM. 2001. The family based association test method: Strategies for studying general genotype-phenotype associations. Eur J Hum Genet 9:301-306.
    • (2001) Eur J Hum Genet , vol.9 , pp. 301-306
    • Horvath, S.1    Xu, X.2    Laird, N.M.3
  • 22
    • 29244488577 scopus 로고    scopus 로고
    • Variation in genes involved in the RANKL/RANK/OPG bone remodeling pathway are associated with bone mineral density at different skeletal sites in men
    • Hsu YH, Niu T, Terwedow HA, Xu X, Feng Y, Li Z, Brain JD, Rosen CJ, Laird N, Xu X. 2006. Variation in genes involved in the RANKL/RANK/OPG bone remodeling pathway are associated with bone mineral density at different skeletal sites in men. Hum Genet 118:568-577.
    • (2006) Hum Genet , vol.118 , pp. 568-577
    • Hsu, Y.H.1    Niu, T.2    Terwedow, H.A.3    Xu, X.4    Feng, Y.5    Li, Z.6    Brain, J.D.7    Rosen, C.J.8    Laird, N.9    Xu, X.10
  • 23
    • 0028141355 scopus 로고
    • Expression of the murine plasma cell nucleotide pyrophosphohydrolase PC-1 is shared by human liver, bone, and cartilage cells. Regulation of PC-1 expression in osteosarcoma cells by transforming growth factor-beta
    • Huang R, Rosenbach M, Vaughn R, Provvedini D, Rebbe N, Hickman S, Goding J, Terkeltaub R. 1994. Expression of the murine plasma cell nucleotide pyrophosphohydrolase PC-1 is shared by human liver, bone, and cartilage cells. Regulation of PC-1 expression in osteosarcoma cells by transforming growth factor-beta. J Clin Invest 94:560-567.
    • (1994) J Clin Invest , vol.94 , pp. 560-567
    • Huang, R.1    Rosenbach, M.2    Vaughn, R.3    Provvedini, D.4    Rebbe, N.5    Hickman, S.6    Goding, J.7    Terkeltaub, R.8
  • 24
    • 0032983541 scopus 로고    scopus 로고
    • Matrix vesicle plasma cell membrane glycoprotein-1 regulates mineralization by murine osteoblastic MC3T3 cells
    • Johnson K, Moffa A, Chen Y, Pritzker K, Goding J, Terkeltaub R. 1999. Matrix vesicle plasma cell membrane glycoprotein-1 regulates mineralization by murine osteoblastic MC3T3 cells. J Bone Miner Res 14:883-892.
    • (1999) J Bone Miner Res , vol.14 , pp. 883-892
    • Johnson, K.1    Moffa, A.2    Chen, Y.3    Pritzker, K.4    Goding, J.5    Terkeltaub, R.6
  • 25
    • 0038622051 scopus 로고    scopus 로고
    • Effect of high phosphate concentration on osteoclast differentiation as well as bone-resorbing activity
    • Kanatani M, Sugimoto T, Kano J, Kanzawa M, Chihara K. 2003. Effect of high phosphate concentration on osteoclast differentiation as well as bone-resorbing activity. J Cell Physiol 196:180-189.
    • (2003) J Cell Physiol , vol.196 , pp. 180-189
    • Kanatani, M.1    Sugimoto, T.2    Kano, J.3    Kanzawa, M.4    Chihara, K.5
  • 27
    • 0042888668 scopus 로고    scopus 로고
    • Genetic disorders of the skeleton: A developmental approach
    • Kornak U, Mundlos S. 2003. Genetic disorders of the skeleton: A developmental approach. Am J Hum Genet 73:447-474.
    • (2003) Am J Hum Genet , vol.73 , pp. 447-474
    • Kornak, U.1    Mundlos, S.2
  • 29
    • 0036133807 scopus 로고    scopus 로고
    • Complex segregation analysis of the radiographic phalanges bone mineral density and their age related changes
    • Livshits G, Karasik D, Kobyliansky E. 2002. Complex segregation analysis of the radiographic phalanges bone mineral density and their age related changes. J Bone Miner Res 17:1-10.
    • (2002) J Bone Miner Res , vol.17 , pp. 1-10
    • Livshits, G.1    Karasik, D.2    Kobyliansky, E.3
  • 30
    • 0021721158 scopus 로고
    • Changes in the heritability components of anthropometric characters due to preselection and environment during migration
    • Livshits G, Kobyliansky E. 1984. Changes in the heritability components of anthropometric characters due to preselection and environment during migration. Hum Hered 34:348-357.
    • (1984) Hum Hered , vol.34 , pp. 348-357
    • Livshits, G.1    Kobyliansky, E.2
  • 31
    • 0023374068 scopus 로고
    • Craniofacial morphology and occlusal variation in monozygous and dizygous twins
    • Lobb WK. 1987. Craniofacial morphology and occlusal variation in monozygous and dizygous twins. Angle Orthod 57:219-233.
    • (1987) Angle Orthod , vol.57 , pp. 219-233
    • Lobb, W.K.1
  • 32
    • 77958544187 scopus 로고    scopus 로고
    • Technical Report, Department of Anatomy and Anthropology, Sackler Faculty of Medicine, Tel Aviv University
    • Malkin I, Ginsburg E. 2007. Program package for pedigree analysis (MAN, Version 7). Technical Report, Department of Anatomy and Anthropology, Sackler Faculty of Medicine, Tel Aviv University.
    • (2007) Program Package for Pedigree Analysis (MAN, Version 7)
    • Malkin, I.1    Ginsburg, E.2
  • 33
    • 0036013423 scopus 로고    scopus 로고
    • Modeling of age related bone loss using cross-sectional data
    • Malkin I, Karasik D, Livshits G, Kobyliansky E. 2002. Modeling of age related bone loss using cross-sectional data. Ann Hum Biol 29:256-270.
    • (2002) Ann Hum Biol , vol.29 , pp. 256-270
    • Malkin, I.1    Karasik, D.2    Livshits, G.3    Kobyliansky, E.4
  • 34
    • 0035143951 scopus 로고    scopus 로고
    • Phosphate ions mediate chondrocyte apoptosis through a plasma membrane transporter mechanism
    • Mansfield K, Teixeira CC, Adams CS, Shapiro IM. 2001. Phosphate ions mediate chondrocyte apoptosis through a plasma membrane transporter mechanism. Bone 28:1-8.
    • (2001) Bone , vol.28 , pp. 1-8
    • Mansfield, K.1    Teixeira, C.C.2    Adams, C.S.3    Shapiro, I.M.4
  • 35
    • 0030059377 scopus 로고    scopus 로고
    • Calcium pyrophosphate dehydrate crystal deposition disease as a cause of lumbar canal stenosis
    • Markiewitz A, Boumphrey F, Bauer T, Bell G. 1996. Calcium pyrophosphate dehydrate crystal deposition disease as a cause of lumbar canal stenosis. Spine 21:506-511.
    • (1996) Spine , vol.21 , pp. 506-511
    • Markiewitz, A.1    Boumphrey, F.2    Bauer, T.3    Bell, G.4
  • 36
    • 0033847088 scopus 로고    scopus 로고
    • Inorganic phosphate induces apoptosis of osteoblast-like cells in culture
    • Meleti Z, Shapiro IM, Adams CS. 2000. Inorganic phosphate induces apoptosis of osteoblast-like cells in culture. Bone 27:359-366.
    • (2000) Bone , vol.27 , pp. 359-366
    • Meleti, Z.1    Shapiro, I.M.2    Adams, C.S.3
  • 38
    • 28444453646 scopus 로고    scopus 로고
    • Growth of the normal skull vault and its alteration in craniosynostosis: Insights from human genetics and experimental studies
    • Morriss-Kay GM, Wilkie AO. 2005. Growth of the normal skull vault and its alteration in craniosynostosis: insights from human genetics and experimental studies. J Anat 207:637-653.
    • (2005) J Anat , vol.207 , pp. 637-653
    • Morriss-Kay, G.M.1    Wilkie, A.O.2
  • 41
    • 26944496503 scopus 로고    scopus 로고
    • Bone remodeling: New aspects of a key process that controls skeletal maintenance and repair
    • Pogoda P, Priemel M, Rueger JM, Amling M. 2005. Bone remodeling: New aspects of a key process that controls skeletal maintenance and repair. Osteoporos Int 16(Suppl 2):S18-S24.
    • (2005) Osteoporos Int , vol.16 , Issue.SUPPL. 2
    • Pogoda, P.1    Priemel, M.2    Rueger, J.M.3    Amling, M.4
  • 43
    • 16244364756 scopus 로고    scopus 로고
    • The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI)
    • Ruf N, Uhlenberg B, Terkeltaub R, Nurnberg P, Rutsch F. 2005. The mutational spectrum of ENPP1 as arising after the analysis of 23 unrelated patients with generalized arterial calcification of infancy (GACI). Hum Mutat 25:98.
    • (2005) Hum Mutat , vol.25 , pp. 98
    • Ruf, N.1    Uhlenberg, B.2    Terkeltaub, R.3    Nurnberg, P.4    Rutsch, F.5
  • 44
    • 4143141511 scopus 로고    scopus 로고
    • Stat Soft, Inc. version 7.1. Cary, NC: Stat Soft, Inc
    • Stat Soft, Inc. 2005. STATISTICA (data analysis software system), version 7.1. www.statsoft.com. Cary, NC: Stat Soft, Inc.
    • (2005) STATISTICA (Data Analysis Software System)
  • 46
    • 18244378248 scopus 로고    scopus 로고
    • The extent of ossification of posterior longitudinal ligament of the spine associated with nucleotide pyrophosphatase gene and leptin receptor gene polymorphisms
    • Tahara M, Aiba A, Yamazaki M, Ikeda Y, Goto S, Moriya H, Okawa A. 2005. The extent of ossification of posterior longitudinal ligament of the spine associated with nucleotide pyrophosphatase gene and leptin receptor gene polymorphisms. Spine 30:877-880.
    • (2005) Spine , vol.30 , pp. 877-880
    • Tahara, M.1    Aiba, A.2    Yamazaki, M.3    Ikeda, Y.4    Goto, S.5    Moriya, H.6    Okawa, A.7
  • 47
    • 0036319008 scopus 로고    scopus 로고
    • Genetic studies of disorders of calcium crystal deposition
    • Timms A, Zhang Y, Russell R, Brown M. 2002. Genetic studies of disorders of calcium crystal deposition. Rheumatology 41:725-729.
    • (2002) Rheumatology , vol.41 , pp. 725-729
    • Timms, A.1    Zhang, Y.2    Russell, R.3    Brown, M.4
  • 48
    • 0041498141 scopus 로고
    • People of Russia
    • Moscow: Great Russian Encyclopedia Publishing House in Russian
    • Tischkov VA. 1994. People of Russia. Encyclopedia. Moscow: Great Russian Encyclopedia Publishing House [in Russian].
    • (1994) Encyclopedia
    • Tischkov, V.A.1
  • 49
    • 39149097519 scopus 로고    scopus 로고
    • Unraveling human cleft lip and palate research
    • Vieira AR. 2008. Unraveling human cleft lip and palate research. J Dent Res 87:119-125.
    • (2008) J Dent Res , vol.87 , pp. 119-125
    • Vieira, A.R.1
  • 50
    • 0035374608 scopus 로고    scopus 로고
    • Genetics of craniofacial development and malformation
    • Wilkie AO, Morriss-Kay GM. 2001. Genetics of craniofacial development and malformation. Nat Rev Genet 2:458-468.
    • (2001) Nat Rev Genet , vol.2 , pp. 458-468
    • Wilkie, A.O.1    Morriss-Kay, G.M.2
  • 51
    • 0035377372 scopus 로고    scopus 로고
    • Growth hormone receptor gene variant and mandibular height in the normal Japanese population
    • Yamaguchi T, Maki K, Shibasaki Y. 2001. Growth hormone receptor gene variant and mandibular height in the normal Japanese population. Am J Orthod Dentofacial Orthop 119:650-653.
    • (2001) Am J Orthod Dentofacial Orthop , vol.119 , pp. 650-653
    • Yamaguchi, T.1    Maki, K.2    Shibasaki, Y.3
  • 52
    • 7044241200 scopus 로고    scopus 로고
    • Longitudinal posteroanterior changes in transverse and vertical craniofacial structures between 10 and 14 years of age
    • Yavuz I, Ikbal A, Baydas B, Ceylan I. 2004. Longitudinal posteroanterior changes in transverse and vertical craniofacial structures between 10 and 14 years of age. Angle Orthod 74:624-629.
    • (2004) Angle Orthod , vol.74 , pp. 624-629
    • Yavuz, I.1    Ikbal, A.2    Baydas, B.3    Ceylan, I.4
  • 53
    • 34047184865 scopus 로고    scopus 로고
    • Investigation of the role of ENPP1 and TNAP genes in chondrocalcinosis
    • Oxford
    • Zhang Y, Brown MA, Peach C, Russell G, Wordsworth BP. 2007. Investigation of the role of ENPP1 and TNAP genes in chondrocalcinosis. Rheumatology (Oxford) 46:586-589.
    • (2007) Rheumatology , vol.46 , pp. 586-589
    • Zhang, Y.1    Brown, M.A.2    Peach, C.3    Russell, G.4    Wordsworth, B.P.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.