메뉴 건너뛰기




Volumn 369, Issue 16, 2013, Pages 1529-1536

PLS3 mutations in X-linked osteoporosis with fractures

(33)  Van Dijk, Fleur S a   Zillikens, M Carola b   Micha, Dimitra a   Riessland, Markus k   Marcelis, Carlo L M c   De Die Smulders, Christine E d   Milbradt, Janine k   Franken, Anton A e   Harsevoort, Arjan J e   Lichtenbelt, Klaske D f   Pruijs, Hans E g   Rubio Gozalbo, M Estela d   Zwertbroek, Rolf h   Moutaouakil, Youssef a   Egthuijsen, Jaqueline a   Hammerschmidt, Matthias k   Bijman, Renate a   Semeins, Cor M i   Bakker, Astrid D i   Everts, Vincent i   more..


Author keywords

[No Author keywords available]

Indexed keywords

PLS3 PROTEIN; REGULATOR PROTEIN; UNCLASSIFIED DRUG;

EID: 84885755136     PISSN: 00284793     EISSN: 15334406     Source Type: Journal    
DOI: 10.1056/NEJMoa1308223     Document Type: Article
Times cited : (166)

References (25)
  • 2
    • 84861225711 scopus 로고    scopus 로고
    • Primary osteoporosis without features of OI in children and adolescents: Clinical and genetic characteristics
    • Laine CM, Koltin D, Susic M, et al. Primary osteoporosis without features of OI in children and adolescents: clinical and genetic characteristics. Am J Med Genet A 2012;158A:1252-61.
    • (2012) Am J Med Genet A , vol.158 A , pp. 1252-1261
    • Laine, C.M.1    Koltin, D.2    Susic, M.3
  • 3
    • 17644417767 scopus 로고    scopus 로고
    • Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children
    • Hartikka H, Mäkitie O, Männikkö M, et al. Heterozygous mutations in the LDL receptor-related protein 5 (LRP5) gene are associated with primary osteoporosis in children. J Bone Miner Res 2005;20:783-9.
    • (2005) J Bone Miner Res , vol.20 , pp. 783-789
    • Hartikka, H.1    Mäkitie, O.2    Männikkö, M.3
  • 4
    • 84860331458 scopus 로고    scopus 로고
    • Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture
    • Estrada K, Styrkarsdottir U, Evangelou E, et al. Genome-wide meta-analysis identifies 56 bone mineral density loci and reveals 14 loci associated with risk of fracture. Nat Genet 2012;44:491-501.
    • (2012) Nat Genet , vol.44 , pp. 491-501
    • Estrada, K.1    Styrkarsdottir, U.2    Evangelou, E.3
  • 5
    • 84877595835 scopus 로고    scopus 로고
    • WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta
    • Laine CM, Joeng KS, Campeau PM, et al. WNT1 mutations in early-onset osteoporosis and osteogenesis imperfecta. N Engl J Med 2013;368:1809-16.
    • (2013) N Engl J Med , vol.368 , pp. 1809-1816
    • Laine, C.M.1    Joeng, K.S.2    Campeau, P.M.3
  • 6
    • 84875924767 scopus 로고    scopus 로고
    • Mutations in WNT1 cause different forms of bone fragility
    • Keupp K, Beleggia F, Kayserili H, et al. Mutations in WNT1 cause different forms of bone fragility. Am J Hum Genet 2013;92:565-74.
    • (2013) Am J Hum Genet , vol.92 , pp. 565-574
    • Keupp, K.1    Beleggia, F.2    Kayserili, H.3
  • 7
    • 85027935901 scopus 로고    scopus 로고
    • Clinical utility gene card for: Osteogenesis imperfecta
    • van Dijk FS, Dalgleish R, Malfait F, et al. Clinical utility gene card for: osteogenesis imperfecta. Eur J Hum Genet 2013;21:698-9.
    • (2013) Eur J Hum Genet , vol.21 , pp. 698-699
    • Van Dijk, F.S.1    Dalgleish, R.2    Malfait, F.3
  • 9
    • 84871404073 scopus 로고    scopus 로고
    • Diagnosis of Fanconi anemia: Mutation analysis by next-generation sequencing
    • Ameziane N, Sie D, Dentro S, et al. Diagnosis of Fanconi anemia: mutation analysis by next-generation sequencing. Anemia 2012;2012:132856.
    • (2012) Anemia , vol.2012 , pp. 132856
    • Ameziane, N.1    Sie, D.2    Dentro, S.3
  • 10
    • 84860373866 scopus 로고    scopus 로고
    • The 1000 Genomes Project: Data management and community access
    • Clarke L, Zheng-Bradley X, Smith R, et al. The 1000 Genomes Project: data management and community access. Nat Methods 2012;9:459-62.
    • (2012) Nat Methods , vol.9 , pp. 459-462
    • Clarke, L.1    Zheng-Bradley, X.2    Smith, R.3
  • 11
    • 80054717387 scopus 로고    scopus 로고
    • The Rotterdam Study: 2012 objectives and design update
    • Hofman A, van Duijn CM, Franco OH, et al. The Rotterdam Study: 2012 objectives and design update. Eur J Epidemiol 2011;26:657-86.
    • (2011) Eur J Epidemiol , vol.26 , pp. 657-686
    • Hofman, A.1    Van Duijn, C.M.2    Franco, O.H.3
  • 12
    • 22144496125 scopus 로고    scopus 로고
    • Plastins: Versatile modulators of actin organization in (patho)physiological cellular processes
    • Delanote V, Vandekerckhove J, Gettemans J. Plastins: versatile modulators of actin organization in (patho)physiological cellular processes. Acta Pharmacol Sin 2005;26:769-79.
    • (2005) Acta Pharmacol Sin , vol.26 , pp. 769-779
    • Delanote, V.1    Vandekerckhove, J.2    Gettemans, J.3
  • 13
    • 33744462626 scopus 로고    scopus 로고
    • Bone cell responses to high-frequency vibration stress: Does the nucleus oscillate within the cytoplasm?
    • Bacabac RG, Smit TH, Van Loon JJWA, Doulabi BZ, Helder M, Klein-Nulend J. Bone cell responses to high-frequency vibration stress: does the nucleus oscillate within the cytoplasm? FASEB J 2006;20:858-64.
    • (2006) FASEB J , vol.20 , pp. 858-864
    • Bacabac, R.G.1    Smit, T.H.2    Van Loon, J.J.W.A.3    Doulabi, B.Z.4    Helder, M.5    Klein-Nulend, J.6
  • 14
    • 0034540894 scopus 로고    scopus 로고
    • Response of periodontal ligament fibroblasts and gingival fibroblasts to pulsating fluid flow: Nitric oxide and prostaglandin E2 release and expression of tissue non-specific alkaline phosphatase activity
    • van der Pauw MTM, Klein-Nulend J, van den Bos T, Burger EH, Everts V, Beertsen W. Response of periodontal ligament fibroblasts and gingival fibroblasts to pulsating fluid flow: nitric oxide and prostaglandin E2 release and expression of tissue non-specific alkaline phosphatase activity. J Periodontal Res 2000;35:335-43.
    • (2000) J Periodontal Res , vol.35 , pp. 335-343
    • Van Der Pauw, M.T.M.1    Klein-Nulend, J.2    Van Den Bos, T.3    Burger, E.H.4    Everts, V.5    Beertsen, W.6
  • 16
    • 52449118475 scopus 로고    scopus 로고
    • Testing for association on the X chromosome
    • Clayton D. Testing for association on the X chromosome. Biostatistics 2008;9:593-600.
    • (2008) Biostatistics , vol.9 , pp. 593-600
    • Clayton, D.1
  • 17
    • 42549088649 scopus 로고    scopus 로고
    • Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy
    • Oprea GE, Kröber S, McWhorter ML, et al. Plastin 3 is a protective modifier of autosomal recessive spinal muscular atrophy. Science 2008;320:524-7.
    • (2008) Science , vol.320 , pp. 524-527
    • Oprea, G.E.1    Kröber, S.2    McWhorter, M.L.3
  • 18
    • 84875236246 scopus 로고    scopus 로고
    • Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality
    • Ackermann B, Kröber S, Torres-Benito L, et al. Plastin 3 ameliorates spinal muscular atrophy via delayed axon pruning and improves neuromuscular junction functionality. Hum Mol Genet 2013;22:1328-47.
    • (2013) Hum Mol Genet , vol.22 , pp. 1328-1347
    • Ackermann, B.1    Kröber, S.2    Torres-Benito, L.3
  • 19
    • 84865652711 scopus 로고    scopus 로고
    • Muscle contraction controls skeletal morphogenesis through regulation of chondrocyte convergent extension
    • Shwartz Y, Farkas Z, Stern T, Aszódi A, Zelzer E. Muscle contraction controls skeletal morphogenesis through regulation of chondrocyte convergent extension. Dev Biol 2012;370:154-63.
    • (2012) Dev Biol , vol.370 , pp. 154-163
    • Shwartz, Y.1    Farkas, Z.2    Stern, T.3    Aszódi, A.4    Zelzer, E.5
  • 20
    • 0025091625 scopus 로고
    • Fimbrin is a homologue of the cytoplasmic phosphoprotein plastin and has domains homologous with calmodulin and actin gelation proteins
    • de Arruda MV, Watson S, Lin CS, Leavitt J, Matsudaira P. Fimbrin is a homologue of the cytoplasmic phosphoprotein plastin and has domains homologous with calmodulin and actin gelation proteins. J Cell Biol 1990;111:1069-79.
    • (1990) J Cell Biol , vol.111 , pp. 1069-1079
    • De Arruda, M.V.1    Watson, S.2    Lin, C.S.3    Leavitt, J.4    Matsudaira, P.5
  • 21
    • 79251493453 scopus 로고    scopus 로고
    • The amazing osteocyte
    • Bonewald LF. The amazing osteocyte. J Bone Miner Res 2011;26:229-38.
    • (2011) J Bone Miner Res , vol.26 , pp. 229-238
    • Bonewald, L.F.1
  • 22
    • 0031668242 scopus 로고    scopus 로고
    • Osteocyte shape is dependent on actin filaments and osteocyte processes are unique actin-rich projections
    • Tanaka-Kamioka K, Kamioka H, Ris H, Lim SS. Osteocyte shape is dependent on actin filaments and osteocyte processes are unique actin-rich projections. J Bone Miner Res 1998;13:1555-68.
    • (1998) J Bone Miner Res , vol.13 , pp. 1555-1568
    • Tanaka-Kamioka, K.1    Kamioka, H.2    Ris, H.3    Lim, S.S.4
  • 23
    • 2942715408 scopus 로고    scopus 로고
    • Terminal differentiation of osteoblasts to osteocytes is accompanied by dramatic changes in the distribution of actin-binding proteins
    • Kamioka H, Sugawara Y, Honjo T, Yamashiro T, Takano-Yamamoto T. Terminal differentiation of osteoblasts to osteocytes is accompanied by dramatic changes in the distribution of actin-binding proteins. J Bone Miner Res 2004;19:471-8.
    • (2004) J Bone Miner Res , vol.19 , pp. 471-478
    • Kamioka, H.1    Sugawara, Y.2    Honjo, T.3    Yamashiro, T.4    Takano-Yamamoto, T.5
  • 24
    • 84856457221 scopus 로고    scopus 로고
    • An integrative review of mechanotransduction in endothelial, epithelial (renal) and dendritic cells (osteocytes)
    • Weinbaum S, Duan Y, Thi MM, You L. An integrative review of mechanotransduction in endothelial, epithelial (renal) and dendritic cells (osteocytes). Cell Mol Bioeng 2011;4:510-37.
    • (2011) Cell Mol Bioeng , vol.4 , pp. 510-537
    • Weinbaum, S.1    Duan, Y.2    Thi, M.M.3    You, L.4
  • 25
    • 77951299110 scopus 로고    scopus 로고
    • Mechanobiological regulation of the remodelling cycle in trabecular bone and possible biomechanical pathways for osteoporosis
    • Bristol, Avon
    • Mulvihill BM, Prendergast PJ. Mechanobiological regulation of the remodelling cycle in trabecular bone and possible biomechanical pathways for osteoporosis. Clin Biomech (Bristol, Avon) 2010;25:491-8.
    • (2010) Clin Biomech , vol.25 , pp. 491-498
    • Mulvihill, B.M.1    Prendergast, P.J.2


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.