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Volumn 6, Issue 6, 2011, Pages

Discordant gene expression signatures and related phenotypic differences in lamin A- and A/C-related Hutchinson-Gilford Progeria Syndrome (HGPS)

Author keywords

[No Author keywords available]

Indexed keywords

LAMIN A; LAMIN C; OSTEOCALCIN; ECTONUCLEOTIDE PYROPHOSPHATASE PHOSPHODIESTERASE 1; INORGANIC PYROPHOSPHATASE; LMNA PROTEIN, HUMAN; OSTEOPROTEGERIN; PHOSPHODIESTERASE; REPRESSOR PROTEIN; TRANSCRIPTION FACTOR TWIST; TWIST2 PROTEIN, HUMAN;

EID: 79959624914     PISSN: None     EISSN: 19326203     Source Type: Journal    
DOI: 10.1371/journal.pone.0021433     Document Type: Article
Times cited : (14)

References (86)
  • 1
    • 34249788998 scopus 로고    scopus 로고
    • "Laminopathies"ide spectrum of human diseases
    • Worman HJ, Bonne G, (2007) "Laminopathies"ide spectrum of human diseases. Exp Cell Res 313: 2121-2133.
    • (2007) Exp Cell Res , vol.313 , pp. 2121-2133
    • Worman, H.J.1    Bonne, G.2
  • 2
    • 33845269544 scopus 로고    scopus 로고
    • Hutchinson-Gilford progeria syndrome: review of the phenotype
    • Hennekam RC, (2006) Hutchinson-Gilford progeria syndrome: review of the phenotype. Am J Med Genet A 140: 2603-2624.
    • (2006) Am J Med Genet A , vol.140 , pp. 2603-2624
    • Hennekam, R.C.1
  • 3
    • 45449092970 scopus 로고    scopus 로고
    • HGPS and related premature aging disorders: from genomic identification to the first therapeutic approaches
    • Pereira S, Bourgeois P, Navarro C, Esteves-Vieira V, Cau P, et al. (2008) HGPS and related premature aging disorders: from genomic identification to the first therapeutic approaches. Mech Ageing Dev 129: 449-459.
    • (2008) Mech Ageing Dev , vol.129 , pp. 449-459
    • Pereira, S.1    Bourgeois, P.2    Navarro, C.3    Esteves-Vieira, V.4    Cau, P.5
  • 4
    • 4043122518 scopus 로고    scopus 로고
    • Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome
    • Plasilova M, Chattopadhyay C, Pal P, Schaub NA, Buechner SA, et al. (2004) Homozygous missense mutation in the lamin A/C gene causes autosomal recessive Hutchinson-Gilford progeria syndrome. J Med Genet 41: 609-614.
    • (2004) J Med Genet , vol.41 , pp. 609-614
    • Plasilova, M.1    Chattopadhyay, C.2    Pal, P.3    Schaub, N.A.4    Buechner, S.A.5
  • 6
    • 33748760066 scopus 로고    scopus 로고
    • Farnesylated lamins, progeroid syndromes and farnesyl transferase inhibitors
    • Rusinol AE, Sinensky MS, (2006) Farnesylated lamins, progeroid syndromes and farnesyl transferase inhibitors. J Cell Sci 119: 3265-3272.
    • (2006) J Cell Sci , vol.119 , pp. 3265-3272
    • Rusinol, A.E.1    Sinensky, M.S.2
  • 7
    • 3943078618 scopus 로고    scopus 로고
    • Intermediate filaments: molecular structure, assembly mechanism, and integration into functionally distinct intracellular Scaffolds
    • Herrmann H, Aebi U, (2004) Intermediate filaments: molecular structure, assembly mechanism, and integration into functionally distinct intracellular Scaffolds. Annu Rev Biochem 73: 749-789.
    • (2004) Annu Rev Biochem , vol.73 , pp. 749-789
    • Herrmann, H.1    Aebi, U.2
  • 9
    • 68849112456 scopus 로고    scopus 로고
    • Intermediate filaments: primary determinants of cell architecture and plasticity
    • Herrmann H, Strelkov SV, Burkhard P, Aebi U, (2009) Intermediate filaments: primary determinants of cell architecture and plasticity. J Clin Invest 119: 1772-1783.
    • (2009) J Clin Invest , vol.119 , pp. 1772-1783
    • Herrmann, H.1    Strelkov, S.V.2    Burkhard, P.3    Aebi, U.4
  • 11
    • 0031686054 scopus 로고    scopus 로고
    • Nuclear lamins: their structure, assembly, and interactions
    • Stuurman N, Heins S, Aebi U, (1998) Nuclear lamins: their structure, assembly, and interactions. J Struct Biol 122: 42-66.
    • (1998) J Struct Biol , vol.122 , pp. 42-66
    • Stuurman, N.1    Heins, S.2    Aebi, U.3
  • 13
    • 33645524772 scopus 로고    scopus 로고
    • Lamin A/C expression is a marker of mouse and human embryonic stem cell differentiation
    • Constantinescu D, Gray HL, Sammak PJ, Schatten GP, Csoka AB, (2006) Lamin A/C expression is a marker of mouse and human embryonic stem cell differentiation. Stem Cells 24: 177-185.
    • (2006) Stem Cells , vol.24 , pp. 177-185
    • Constantinescu, D.1    Gray, H.L.2    Sammak, P.J.3    Schatten, G.P.4    Csoka, A.B.5
  • 14
    • 0025272702 scopus 로고
    • Cells of the cellular immune and hemopoietic system of the mouse lack lamins A/C: distinction versus other somatic cells
    • Rober RA, Sauter H, Weber K, Osborn M, (1990) Cells of the cellular immune and hemopoietic system of the mouse lack lamins A/C: distinction versus other somatic cells. J Cell Sci 95 (Pt 4): 587-598.
    • (1990) J Cell Sci , vol.95 , Issue.Pt 4 , pp. 587-598
    • Rober, R.A.1    Sauter, H.2    Weber, K.3    Osborn, M.4
  • 15
    • 0024561417 scopus 로고
    • Differential timing of nuclear lamin A/C expression in the various organs of the mouse embryo and the young animal: a developmental study
    • Rober RA, Weber K, Osborn M, (1989) Differential timing of nuclear lamin A/C expression in the various organs of the mouse embryo and the young animal: a developmental study. Development 105: 365-378.
    • (1989) Development , vol.105 , pp. 365-378
    • Rober, R.A.1    Weber, K.2    Osborn, M.3
  • 16
    • 0037673950 scopus 로고    scopus 로고
    • Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
    • Eriksson M, Brown WT, Gordon LB, Glynn MW, Singer J, et al. (2003) Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature 423: 293-298.
    • (2003) Nature , vol.423 , pp. 293-298
    • Eriksson, M.1    Brown, W.T.2    Gordon, L.B.3    Glynn, M.W.4    Singer, J.5
  • 18
    • 2942643923 scopus 로고    scopus 로고
    • Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome
    • Goldman RD, Shumaker DK, Erdos MR, Eriksson M, Goldman AE, et al. (2004) Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A 101: 8963-8968.
    • (2004) Proc Natl Acad Sci U S A , vol.101 , pp. 8963-8968
    • Goldman, R.D.1    Shumaker, D.K.2    Erdos, M.R.3    Eriksson, M.4    Goldman, A.E.5
  • 19
    • 28344445866 scopus 로고    scopus 로고
    • Rescue of heterochromatin organization in Hutchinson-Gilford progeria by drug treatment
    • Columbaro M, Capanni C, Mattioli E, Novelli G, Parnaik VK, et al. (2005) Rescue of heterochromatin organization in Hutchinson-Gilford progeria by drug treatment. Cell Mol Life Sci 62: 2669-2678.
    • (2005) Cell Mol Life Sci , vol.62 , pp. 2669-2678
    • Columbaro, M.1    Capanni, C.2    Mattioli, E.3    Novelli, G.4    Parnaik, V.K.5
  • 20
    • 17644373758 scopus 로고    scopus 로고
    • Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome
    • Scaffidi P, Misteli T, (2005) Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome. Nat Med 11: 440-445.
    • (2005) Nat Med , vol.11 , pp. 440-445
    • Scaffidi, P.1    Misteli, T.2
  • 21
    • 33745016642 scopus 로고    scopus 로고
    • Mutant nuclear lamin A leads to progressive alterations of epigenetic control in premature aging
    • Shumaker DK, Dechat T, Kohlmaier A, Adam SA, Bozovsky MR, et al. (2006) Mutant nuclear lamin A leads to progressive alterations of epigenetic control in premature aging. Proc Natl Acad Sci U S A 103: 8703-8708.
    • (2006) Proc Natl Acad Sci U S A , vol.103 , pp. 8703-8708
    • Shumaker, D.K.1    Dechat, T.2    Kohlmaier, A.3    Adam, S.A.4    Bozovsky, M.R.5
  • 22
    • 68249129558 scopus 로고    scopus 로고
    • Homozygous LMNA mutation R527C in atypical Hutchinson-Gilford progeria syndrome: evidence for autosomal recessive inheritance
    • Liang L, Zhang H, Gu X, (2009) Homozygous LMNA mutation R527C in atypical Hutchinson-Gilford progeria syndrome: evidence for autosomal recessive inheritance. Acta Paediatr 98: 1365-1368.
    • (2009) Acta Paediatr , vol.98 , pp. 1365-1368
    • Liang, L.1    Zhang, H.2    Gu, X.3
  • 23
    • 33747871714 scopus 로고    scopus 로고
    • Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation
    • Verstraeten VL, Broers JL, van Steensel MA, Zinn-Justin S, Ramaekers FC, et al. (2006) Compound heterozygosity for mutations in LMNA causes a progeria syndrome without prelamin A accumulation. Hum Mol Genet 15: 2509-2522.
    • (2006) Hum Mol Genet , vol.15 , pp. 2509-2522
    • Verstraeten, V.L.1    Broers, J.L.2    van Steensel, M.A.3    Zinn-Justin, S.4    Ramaekers, F.C.5
  • 24
    • 0038376023 scopus 로고    scopus 로고
    • LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090)
    • Cao H, Hegele RA, (2003) LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). J Hum Genet 48: 271-274.
    • (2003) J Hum Genet , vol.48 , pp. 271-274
    • Cao, H.1    Hegele, R.A.2
  • 25
    • 0037356308 scopus 로고    scopus 로고
    • Lamina-associated polypeptide 2beta (LAP2beta) is contained in a protein complex together with A- and B-type lamins
    • Lang C, Krohne G, (2003) Lamina-associated polypeptide 2beta (LAP2beta) is contained in a protein complex together with A- and B-type lamins. Eur J Cell Biol 82: 143-153.
    • (2003) Eur J Cell Biol , vol.82 , pp. 143-153
    • Lang, C.1    Krohne, G.2
  • 26
    • 24644520772 scopus 로고    scopus 로고
    • Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome
    • Capell BC, Erdos MR, Madigan JP, Fiordalisi JJ, Varga R, et al. (2005) Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A 102: 12879-12884.
    • (2005) Proc Natl Acad Sci U S A , vol.102 , pp. 12879-12884
    • Capell, B.C.1    Erdos, M.R.2    Madigan, J.P.3    Fiordalisi, J.J.4    Varga, R.5
  • 27
    • 41649097238 scopus 로고    scopus 로고
    • Nuclear lamins: major factors in the structural organization and function of the nucleus and chromatin
    • Dechat T, Pfleghaar K, Sengupta K, Shimi T, Shumaker DK, et al. (2008) Nuclear lamins: major factors in the structural organization and function of the nucleus and chromatin. Genes Dev 22: 832-853.
    • (2008) Genes Dev , vol.22 , pp. 832-853
    • Dechat, T.1    Pfleghaar, K.2    Sengupta, K.3    Shimi, T.4    Shumaker, D.K.5
  • 28
    • 8344274464 scopus 로고    scopus 로고
    • Genome-scale expression profiling of Hutchinson-Gilford progeria syndrome reveals widespread transcriptional misregulation leading to mesodermal/mesenchymal defects and accelerated atherosclerosis
    • Csoka AB, English SB, Simkevich CP, Ginzinger DG, Butte AJ, et al. (2004) Genome-scale expression profiling of Hutchinson-Gilford progeria syndrome reveals widespread transcriptional misregulation leading to mesodermal/mesenchymal defects and accelerated atherosclerosis. Aging Cell 3: 235-243.
    • (2004) Aging Cell , vol.3 , pp. 235-243
    • Csoka, A.B.1    English, S.B.2    Simkevich, C.P.3    Ginzinger, D.G.4    Butte, A.J.5
  • 29
    • 33751269582 scopus 로고    scopus 로고
    • Ankyrin G overexpression in Hutchinson-Gilford progeria syndrome fibroblasts identified through biological filtering of expression profiles
    • Wang J, Robinson JF, O'Neil CH, Edwards JY, Williams CM, et al. (2006) Ankyrin G overexpression in Hutchinson-Gilford progeria syndrome fibroblasts identified through biological filtering of expression profiles. J Hum Genet 51: 934-942.
    • (2006) J Hum Genet , vol.51 , pp. 934-942
    • Wang, J.1    Robinson, J.F.2    O'Neil, C.H.3    Edwards, J.Y.4    Williams, C.M.5
  • 30
    • 77956222384 scopus 로고    scopus 로고
    • Defective lamin A-Rb signaling in Hutchinson-Gilford Progeria Syndrome and reversal by farnesyltransferase inhibition
    • Marji J, O'Donoghue SI, McClintock D, Satagopam VP, Schneider R, et al. (2010) Defective lamin A-Rb signaling in Hutchinson-Gilford Progeria Syndrome and reversal by farnesyltransferase inhibition. PLoS ONE 5: e11132.
    • (2010) PLoS ONE , vol.5
    • Marji, J.1    O'Donoghue, S.I.2    McClintock, D.3    Satagopam, V.P.4    Schneider, R.5
  • 31
    • 12144288066 scopus 로고    scopus 로고
    • A twist code determines the onset of osteoblast differentiation
    • Bialek P, Kern B, Yang X, Schrock M, Sosic D, et al. (2004) A twist code determines the onset of osteoblast differentiation. Dev Cell 6: 423-435.
    • (2004) Dev Cell , vol.6 , pp. 423-435
    • Bialek, P.1    Kern, B.2    Yang, X.3    Schrock, M.4    Sosic, D.5
  • 32
    • 0037462477 scopus 로고    scopus 로고
    • Twist regulates cytokine gene expression through a negative feedback loop that represses NF-kappaB activity
    • Sosic D, Richardson JA, Yu K, Ornitz DM, Olson EN, (2003) Twist regulates cytokine gene expression through a negative feedback loop that represses NF-kappaB activity. Cell 112: 169-180.
    • (2003) Cell , vol.112 , pp. 169-180
    • Sosic, D.1    Richardson, J.A.2    Yu, K.3    Ornitz, D.M.4    Olson, E.N.5
  • 33
    • 67349099856 scopus 로고    scopus 로고
    • Osteoprotegerin, vascular calcification and atherosclerosis
    • Van Campenhout A, Golledge J, (2009) Osteoprotegerin, vascular calcification and atherosclerosis. Atherosclerosis 204: 321-329.
    • (2009) Atherosclerosis , vol.204 , pp. 321-329
    • van Campenhout, A.1    Golledge, J.2
  • 34
    • 3042546950 scopus 로고    scopus 로고
    • Osteoprotegerin and osteopontin are expressed at high concentrations within symptomatic carotid atherosclerosis
    • Golledge J, McCann M, Mangan S, Lam A, Karan M, (2004) Osteoprotegerin and osteopontin are expressed at high concentrations within symptomatic carotid atherosclerosis. Stroke 35: 1636-1641.
    • (2004) Stroke , vol.35 , pp. 1636-1641
    • Golledge, J.1    McCann, M.2    Mangan, S.3    Lam, A.4    Karan, M.5
  • 35
    • 0042166167 scopus 로고    scopus 로고
    • Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification
    • Rutsch F, Ruf N, Vaingankar S, Toliat MR, Suk A, et al. (2003) Mutations in ENPP1 are associated with 'idiopathic' infantile arterial calcification. Nat Genet 34: 379-381.
    • (2003) Nat Genet , vol.34 , pp. 379-381
    • Rutsch, F.1    Ruf, N.2    Vaingankar, S.3    Toliat, M.R.4    Suk, A.5
  • 36
    • 0033957339 scopus 로고    scopus 로고
    • Membrane glycoprotein PC-1 inhibition of insulin receptor function occurs via direct interaction with the receptor alpha-subunit
    • Maddux BA, Goldfine ID, (2000) Membrane glycoprotein PC-1 inhibition of insulin receptor function occurs via direct interaction with the receptor alpha-subunit. Diabetes 49: 13-19.
    • (2000) Diabetes , vol.49 , pp. 13-19
    • Maddux, B.A.1    Goldfine, I.D.2
  • 37
    • 0028795761 scopus 로고
    • Membrane glycoprotein PC-1 and insulin resistance in non-insulin-dependent diabetes mellitus
    • Maddux BA, Sbraccia P, Kumakura S, Sasson S, Youngren J, et al. (1995) Membrane glycoprotein PC-1 and insulin resistance in non-insulin-dependent diabetes mellitus. Nature 373: 448-451.
    • (1995) Nature , vol.373 , pp. 448-451
    • Maddux, B.A.1    Sbraccia, P.2    Kumakura, S.3    Sasson, S.4    Youngren, J.5
  • 38
    • 78149283243 scopus 로고    scopus 로고
    • Cardiovascular Pathology in Hutchinson-Gilford Progeria: Correlation With the Vascular Pathology of Aging
    • Olive M, Harten I, Mitchell R, Beers J, Djabali K, et al. (2010) Cardiovascular Pathology in Hutchinson-Gilford Progeria: Correlation With the Vascular Pathology of Aging. Arterioscler Thromb Vasc Biol.
    • (2010) Arterioscler Thromb Vasc Biol
    • Olive, M.1    Harten, I.2    Mitchell, R.3    Beers, J.4    Djabali, K.5
  • 39
    • 10744228509 scopus 로고    scopus 로고
    • Linked deficiencies in extracellular PP(i) and osteopontin mediate pathologic calcification associated with defective PC-1 and ANK expression
    • Johnson K, Goding J, Van Etten D, Sali A, Hu SI, et al. (2003) Linked deficiencies in extracellular PP(i) and osteopontin mediate pathologic calcification associated with defective PC-1 and ANK expression. J Bone Miner Res 18: 994-1004.
    • (2003) J Bone Miner Res , vol.18 , pp. 994-1004
    • Johnson, K.1    Goding, J.2    van Etten, D.3    Sali, A.4    Hu, S.I.5
  • 41
    • 4644353509 scopus 로고    scopus 로고
    • What is a normal glucose value? Differences in indexes of plasma glucose homeostasis in subjects with normal fasting glucose
    • Piche ME, Arcand-Bosse JF, Despres JP, Perusse L, Lemieux S, et al. (2004) What is a normal glucose value? Differences in indexes of plasma glucose homeostasis in subjects with normal fasting glucose. Diabetes Care 27: 2470-2477.
    • (2004) Diabetes Care , vol.27 , pp. 2470-2477
    • Piche, M.E.1    Arcand-Bosse, J.F.2    Despres, J.P.3    Perusse, L.4    Lemieux, S.5
  • 42
    • 0025066328 scopus 로고
    • Insulin release and peripheral sensitivity at the oral glucose tolerance test
    • Cederholm J, Wibell L, (1990) Insulin release and peripheral sensitivity at the oral glucose tolerance test. Diabetes Res Clin Pract 10: 167-175.
    • (1990) Diabetes Res Clin Pract , vol.10 , pp. 167-175
    • Cederholm, J.1    Wibell, L.2
  • 43
    • 0032821965 scopus 로고    scopus 로고
    • Insulin sensitivity indices obtained from oral glucose tolerance testing: comparison with the euglycemic insulin clamp
    • Matsuda M, DeFronzo RA, (1999) Insulin sensitivity indices obtained from oral glucose tolerance testing: comparison with the euglycemic insulin clamp. Diabetes Care 22: 1462-1470.
    • (1999) Diabetes Care , vol.22 , pp. 1462-1470
    • Matsuda, M.1    DeFronzo, R.A.2
  • 44
    • 34547690686 scopus 로고    scopus 로고
    • Endocrine regulation of energy metabolism by the skeleton
    • Lee NK, Sowa H, Hinoi E, Ferron M, Ahn JD, et al. (2007) Endocrine regulation of energy metabolism by the skeleton. Cell 130: 456-469.
    • (2007) Cell , vol.130 , pp. 456-469
    • Lee, N.K.1    Sowa, H.2    Hinoi, E.3    Ferron, M.4    Ahn, J.D.5
  • 45
    • 35748960839 scopus 로고    scopus 로고
    • A histone lysine methyltransferase activated by non-canonical Wnt signalling suppresses PPAR-gamma transactivation
    • Takada I, Mihara M, Suzawa M, Ohtake F, Kobayashi S, et al. (2007) A histone lysine methyltransferase activated by non-canonical Wnt signalling suppresses PPAR-gamma transactivation. Nat Cell Biol 9: 1273-1285.
    • (2007) Nat Cell Biol , vol.9 , pp. 1273-1285
    • Takada, I.1    Mihara, M.2    Suzawa, M.3    Ohtake, F.4    Kobayashi, S.5
  • 46
    • 25444523734 scopus 로고    scopus 로고
    • Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress
    • Paradisi M, McClintock D, Boguslavsky RL, Pedicelli C, Worman HJ, et al. (2005) Dermal fibroblasts in Hutchinson-Gilford progeria syndrome with the lamin A G608G mutation have dysmorphic nuclei and are hypersensitive to heat stress. BMC Cell Biol 6: 27.
    • (2005) BMC Cell Biol , vol.6 , pp. 27
    • Paradisi, M.1    McClintock, D.2    Boguslavsky, R.L.3    Pedicelli, C.4    Worman, H.J.5
  • 47
    • 34249777825 scopus 로고    scopus 로고
    • LEM-Domain proteins: new insights into lamin-interacting proteins
    • Wagner N, Krohne G, (2007) LEM-Domain proteins: new insights into lamin-interacting proteins. Int Rev Cytol 261: 1-46.
    • (2007) Int Rev Cytol , vol.261 , pp. 1-46
    • Wagner, N.1    Krohne, G.2
  • 48
    • 48049117058 scopus 로고    scopus 로고
    • Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin
    • Wang Y, Panteleyev AA, Owens DM, Djabali K, Stewart CL, et al. (2008) Epidermal expression of the truncated prelamin A causing Hutchinson-Gilford progeria syndrome: effects on keratinocytes, hair and skin. Hum Mol Genet 17: 2357-2369.
    • (2008) Hum Mol Genet , vol.17 , pp. 2357-2369
    • Wang, Y.1    Panteleyev, A.A.2    Owens, D.M.3    Djabali, K.4    Stewart, C.L.5
  • 49
    • 10744219743 scopus 로고    scopus 로고
    • The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway
    • Oishi I, Suzuki H, Onishi N, Takada R, Kani S, et al. (2003) The receptor tyrosine kinase Ror2 is involved in non-canonical Wnt5a/JNK signalling pathway. Genes Cells 8: 645-654.
    • (2003) Genes Cells , vol.8 , pp. 645-654
    • Oishi, I.1    Suzuki, H.2    Onishi, N.3    Takada, R.4    Kani, S.5
  • 50
    • 0032938813 scopus 로고    scopus 로고
    • A Wnt5a pathway underlies outgrowth of multiple structures in the vertebrate embryo
    • Yamaguchi TP, Bradley A, McMahon AP, Jones S, (1999) A Wnt5a pathway underlies outgrowth of multiple structures in the vertebrate embryo. Development 126: 1211-1223.
    • (1999) Development , vol.126 , pp. 1211-1223
    • Yamaguchi, T.P.1    Bradley, A.2    McMahon, A.P.3    Jones, S.4
  • 51
    • 73949122296 scopus 로고    scopus 로고
    • WNT5A mutations in patients with autosomal dominant Robinow syndrome
    • Person AD, Beiraghi S, Sieben CM, Hermanson S, Neumann AN, et al. (2010) WNT5A mutations in patients with autosomal dominant Robinow syndrome. Dev Dyn 239: 327-337.
    • (2010) Dev Dyn , vol.239 , pp. 327-337
    • Person, A.D.1    Beiraghi, S.2    Sieben, C.M.3    Hermanson, S.4    Neumann, A.N.5
  • 53
    • 0019420688 scopus 로고
    • Cardiovascular abnormalities in progeria. Case report and review of the literature
    • Baker PB, Baba N, Boesel CP, (1981) Cardiovascular abnormalities in progeria. Case report and review of the literature. Arch Pathol Lab Med 105: 384-386.
    • (1981) Arch Pathol Lab Med , vol.105 , pp. 384-386
    • Baker, P.B.1    Baba, N.2    Boesel, C.P.3
  • 55
    • 76049121613 scopus 로고    scopus 로고
    • Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene
    • Levy-Litan V, Hershkovitz E, Avizov L, Leventhal N, Bercovich D, et al. (2010) Autosomal-recessive hypophosphatemic rickets is associated with an inactivation mutation in the ENPP1 gene. Am J Hum Genet 86: 273-278.
    • (2010) Am J Hum Genet , vol.86 , pp. 273-278
    • Levy-Litan, V.1    Hershkovitz, E.2    Avizov, L.3    Leventhal, N.4    Bercovich, D.5
  • 56
    • 76049105171 scopus 로고    scopus 로고
    • Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets
    • Lorenz-Depiereux B, Schnabel D, Tiosano D, Hausler G, Strom TM, (2010) Loss-of-function ENPP1 mutations cause both generalized arterial calcification of infancy and autosomal-recessive hypophosphatemic rickets. Am J Hum Genet 86: 267-272.
    • (2010) Am J Hum Genet , vol.86 , pp. 267-272
    • Lorenz-Depiereux, B.1    Schnabel, D.2    Tiosano, D.3    Hausler, G.4    Strom, T.M.5
  • 57
    • 0031005576 scopus 로고    scopus 로고
    • Osteoprotegerin: a novel secreted protein involved in the regulation of bone density
    • Simonet WS, Lacey DL, Dunstan CR, Kelley M, Chang MS, et al. (1997) Osteoprotegerin: a novel secreted protein involved in the regulation of bone density. Cell 89: 309-319.
    • (1997) Cell , vol.89 , pp. 309-319
    • Simonet, W.S.1    Lacey, D.L.2    Dunstan, C.R.3    Kelley, M.4    Chang, M.S.5
  • 58
    • 0043267732 scopus 로고    scopus 로고
    • Genetic regulation of osteoclast development and function
    • Teitelbaum SL, Ross FP, (2003) Genetic regulation of osteoclast development and function. Nat Rev Genet 4: 638-649.
    • (2003) Nat Rev Genet , vol.4 , pp. 638-649
    • Teitelbaum, S.L.1    Ross, F.P.2
  • 59
    • 10744230044 scopus 로고    scopus 로고
    • Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype
    • Chong B, Hegde M, Fawkner M, Simonet S, Cassinelli H, et al. (2003) Idiopathic hyperphosphatasia and TNFRSF11B mutations: relationships between phenotype and genotype. J Bone Miner Res 18: 2095-2104.
    • (2003) J Bone Miner Res , vol.18 , pp. 2095-2104
    • Chong, B.1    Hegde, M.2    Fawkner, M.3    Simonet, S.4    Cassinelli, H.5
  • 60
    • 18544371504 scopus 로고    scopus 로고
    • A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype
    • Cundy T, Hegde M, Naot D, Chong B, King A, et al. (2002) A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype. Hum Mol Genet 11: 2119-2127.
    • (2002) Hum Mol Genet , vol.11 , pp. 2119-2127
    • Cundy, T.1    Hegde, M.2    Naot, D.3    Chong, B.4    King, A.5
  • 62
    • 35148831133 scopus 로고    scopus 로고
    • Disease progression in Hutchinson-Gilford progeria syndrome: impact on growth and development
    • Gordon LB, McCarten KM, Giobbie-Hurder A, Machan JT, Campbell SE, et al. (2007) Disease progression in Hutchinson-Gilford progeria syndrome: impact on growth and development. Pediatrics 120: 824-833.
    • (2007) Pediatrics , vol.120 , pp. 824-833
    • Gordon, L.B.1    McCarten, K.M.2    Giobbie-Hurder, A.3    Machan, J.T.4    Campbell, S.E.5
  • 67
    • 0026527207 scopus 로고
    • Severe insulin resistance and diabetes mellitus in mandibuloacral dysplasia
    • Freidenberg GR, Cutler DL, Jones MC, Hall B, Mier RJ, et al. (1992) Severe insulin resistance and diabetes mellitus in mandibuloacral dysplasia. Am J Dis Child 146: 93-99.
    • (1992) Am J Dis Child , vol.146 , pp. 93-99
    • Freidenberg, G.R.1    Cutler, D.L.2    Jones, M.C.3    Hall, B.4    Mier, R.J.5
  • 69
    • 73349104406 scopus 로고    scopus 로고
    • The uncarboxylated form of osteocalcin is associated with improved glucose tolerance and enhanced beta-cell function in middle-aged male subjects
    • Hwang YC, Jeong IK, Ahn KJ, Chung HY, (2009) The uncarboxylated form of osteocalcin is associated with improved glucose tolerance and enhanced beta-cell function in middle-aged male subjects. Diabetes Metab Res Rev 25: 768-772.
    • (2009) Diabetes Metab Res Rev , vol.25 , pp. 768-772
    • Hwang, Y.C.1    Jeong, I.K.2    Ahn, K.J.3    Chung, H.Y.4
  • 70
    • 58149377704 scopus 로고    scopus 로고
    • Serum osteocalcin level is associated with glucose metabolism and atherosclerosis parameters in type 2 diabetes mellitus
    • Kanazawa I, Yamaguchi T, Yamamoto M, Yamauchi M, Kurioka S, et al. (2009) Serum osteocalcin level is associated with glucose metabolism and atherosclerosis parameters in type 2 diabetes mellitus. J Clin Endocrinol Metab 94: 45-49.
    • (2009) J Clin Endocrinol Metab , vol.94 , pp. 45-49
    • Kanazawa, I.1    Yamaguchi, T.2    Yamamoto, M.3    Yamauchi, M.4    Kurioka, S.5
  • 72
    • 77955082747 scopus 로고    scopus 로고
    • Insulin receptor signaling in osteoblasts regulates postnatal bone acquisition and body composition
    • Fulzele K, Riddle RC, DiGirolamo DJ, Cao X, Wan C, et al. (2010) Insulin receptor signaling in osteoblasts regulates postnatal bone acquisition and body composition. Cell 142: 309-319.
    • (2010) Cell , vol.142 , pp. 309-319
    • Fulzele, K.1    Riddle, R.C.2    DiGirolamo, D.J.3    Cao, X.4    Wan, C.5
  • 73
    • 77955035304 scopus 로고    scopus 로고
    • Insulin signaling in osteoblasts integrates bone remodeling and energy metabolism
    • Ferron M, Wei J, Yoshizawa T, Del Fattore A, DePinho RA, et al. (2010) Insulin signaling in osteoblasts integrates bone remodeling and energy metabolism. Cell 142: 296-308.
    • (2010) Cell , vol.142 , pp. 296-308
    • Ferron, M.1    Wei, J.2    Yoshizawa, T.3    del Fattore, A.4    DePinho, R.A.5
  • 74
    • 77955034753 scopus 로고    scopus 로고
    • No bones about it: insulin modulates skeletal remodeling
    • Rosen CJ, Motyl KJ, (2010) No bones about it: insulin modulates skeletal remodeling. Cell 142: 198-200.
    • (2010) Cell , vol.142 , pp. 198-200
    • Rosen, C.J.1    Motyl, K.J.2
  • 76
    • 33746419250 scopus 로고    scopus 로고
    • Prospective study of diabetes and risk of hip fracture: the Nurses' Health Study
    • Janghorbani M, Feskanich D, Willett WC, Hu F, (2006) Prospective study of diabetes and risk of hip fracture: the Nurses' Health Study. Diabetes Care 29: 1573-1578.
    • (2006) Diabetes Care , vol.29 , pp. 1573-1578
    • Janghorbani, M.1    Feskanich, D.2    Willett, W.C.3    Hu, F.4
  • 77
    • 0035403830 scopus 로고    scopus 로고
    • Type 1 and type 2 diabetes and incident hip fractures in postmenopausal women
    • Nicodemus KK, Folsom AR, (2001) Type 1 and type 2 diabetes and incident hip fractures in postmenopausal women. Diabetes Care 24: 1192-1197.
    • (2001) Diabetes Care , vol.24 , pp. 1192-1197
    • Nicodemus, K.K.1    Folsom, A.R.2
  • 78
  • 79
    • 77951634226 scopus 로고    scopus 로고
    • Insulin resistance, adipose depots and gut: interactions and pathological implications
    • Gastaldelli A, Natali A, Vettor R, Corradini SG, (2010) Insulin resistance, adipose depots and gut: interactions and pathological implications. Dig Liver Dis 42: 310-319.
    • (2010) Dig Liver Dis , vol.42 , pp. 310-319
    • Gastaldelli, A.1    Natali, A.2    Vettor, R.3    Corradini, S.G.4
  • 80
    • 42449096306 scopus 로고    scopus 로고
    • Osteocalcin differentially regulates beta cell and adipocyte gene expression and affects the development of metabolic diseases in wild-type mice
    • Ferron M, Hinoi E, Karsenty G, Ducy P, (2008) Osteocalcin differentially regulates beta cell and adipocyte gene expression and affects the development of metabolic diseases in wild-type mice. Proc Natl Acad Sci U S A 105: 5266-5270.
    • (2008) Proc Natl Acad Sci U S A , vol.105 , pp. 5266-5270
    • Ferron, M.1    Hinoi, E.2    Karsenty, G.3    Ducy, P.4
  • 81
    • 0024370924 scopus 로고
    • Osteocalcin and matrix Gla protein: vitamin K-dependent proteins in bone
    • Hauschka PV, Lian JB, Cole DE, Gundberg CM, (1989) Osteocalcin and matrix Gla protein: vitamin K-dependent proteins in bone. Physiol Rev 69: 990-1047.
    • (1989) Physiol Rev , vol.69 , pp. 990-1047
    • Hauschka, P.V.1    Lian, J.B.2    Cole, D.E.3    Gundberg, C.M.4
  • 82
    • 45349084061 scopus 로고    scopus 로고
    • Reciprocal regulation of bone and energy metabolism
    • Lee NK, Karsenty G, (2008) Reciprocal regulation of bone and energy metabolism. Trends Endocrinol Metab 19: 161-166.
    • (2008) Trends Endocrinol Metab , vol.19 , pp. 161-166
    • Lee, N.K.1    Karsenty, G.2
  • 84
    • 0035710746 scopus 로고    scopus 로고
    • Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method
    • Livak KJ, Schmittgen TD, (2001) Analysis of relative gene expression data using real-time quantitative PCR and the 2(-Delta Delta C(T)) Method. Methods 25: 402-408.
    • (2001) Methods , vol.25 , pp. 402-408
    • Livak, K.J.1    Schmittgen, T.D.2
  • 85
    • 79959585264 scopus 로고    scopus 로고
    • Urokinase-type plasminogen activator is a marker of aggressive phenotype and an independent prognostic factor in mismatch repair-proficient colorectal cancer
    • Minoo P, Baker K, Baumhoer D, Terracciano L, Lugli A, et al. (2009) Urokinase-type plasminogen activator is a marker of aggressive phenotype and an independent prognostic factor in mismatch repair-proficient colorectal cancer. Hum Pathol.
    • (2009) Hum Pathol
    • Minoo, P.1    Baker, K.2    Baumhoer, D.3    Terracciano, L.4    Lugli, A.5
  • 86
    • 0034523217 scopus 로고    scopus 로고
    • Calretinin as a marker for cardiac myxoma. Diagnostic and histogenetic considerations
    • Terracciano LM, Mhawech P, Suess K, D'Armiento M, Lehmann FS, et al. (2000) Calretinin as a marker for cardiac myxoma. Diagnostic and histogenetic considerations. Am J Clin Pathol 114: 754-759.
    • (2000) Am J Clin Pathol , vol.114 , pp. 754-759
    • Terracciano, L.M.1    Mhawech, P.2    Suess, K.3    D'Armiento, M.4    Lehmann, F.S.5


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