메뉴 건너뛰기




Volumn 53, Issue 9, 2012, Pages 1968-1978

Clinical and molecular characterization of a severe form of partial lipodystrophy expanding the phenotype of PPARγ deficiency

Author keywords

Anemia; Cytopenia; Peroxisome proliferator activated receptor gamma

Indexed keywords

PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA;

EID: 84864844998     PISSN: 00222275     EISSN: 15397262     Source Type: Journal    
DOI: 10.1194/jlr.P025437     Document Type: Article
Times cited : (21)

References (36)
  • 1
    • 34548148047 scopus 로고    scopus 로고
    • Thematic review series: Adipocyte Biology - Lipodystrophies: Windows on adipose biology and metabolism
    • DOI 10.1194/jlr.R700004-JLR200
    • Hegele, R. A., T. R. Joy, S. A. Al-Attar, and B. K. Rutt. 2007. Thematic review series: adipocyte biology. Lipodystrophies: windows on adipose biology and metabolism. J. Lipid Res. 48: 1433-1444. (Pubitemid 47312005)
    • (2007) Journal of Lipid Research , vol.48 , Issue.7 , pp. 1433-1444
    • Hegele, R.A.1    Joy, T.R.2    Al-Attar, S.A.3    Rutt, B.K.4
  • 3
    • 4344594835 scopus 로고    scopus 로고
    • Validation of the Friedewald formula for the determination of low-density lipoprotein cholesterol compared with [beta]-quantification in a large population
    • DOI 10.1016/j.clinbiochem.2004.03.008, PII S000991200400089X
    • Tremblay, A. J., H. Morrissette, J-M. Gagné, J. Bergeron, C. Gagné, and P. Couture. 2004. Validation of the Friedewald formula for the determination of low-density lipoprotein cholesterol compared with [beta]-quantification in a large population. Clin. Biochem. 37: 785-790. (Pubitemid 39141120)
    • (2004) Clinical Biochemistry , vol.37 , Issue.9 , pp. 785-790
    • Tremblay, A.J.1    Morrissette, H.2    Gagne, J.-M.3    Bergeron, J.4    Gagne, C.5    Couture, P.6
  • 4
    • 2542469144 scopus 로고    scopus 로고
    • Use and abuse of HOMA modeling
    • DOI 10.2337/diacare.27.6.1487
    • Wallace, T. M., J. C. Levy, and D. R. Matthews. 2004. Use and abuse of HOMA modeling. Diabetes Care 27: 1487-1495. (Pubitemid 38680001)
    • (2004) Diabetes Care , vol.27 , Issue.6 , pp. 1487-1495
    • Wallace, T.M.1    Levy, J.C.2    Matthews, D.R.3
  • 5
    • 0033574249 scopus 로고    scopus 로고
    • A more accurate method to estimate glomerular filtration rate from serum creatinine: A new prediction equation
    • Levey, A. S., J. P. Bosch, J. B. Lewis, T. Greene, N. Rogers, and D. Roth. 1999. A more accurate method to estimate glomerular filtration rate from serum creatinine: a new prediction equation. Modification of Diet in Renal Disease Study Group. Ann. Intern. Med. 130: 461-470. (Pubitemid 29135798)
    • (1999) Annals of Internal Medicine , vol.130 , Issue.6 , pp. 461-470
    • Levey, A.S.1    Bosch, J.P.2    Lewis, J.B.3    Greene, T.4    Rogers, N.5    Roth, D.6
  • 7
    • 0034059075 scopus 로고    scopus 로고
    • Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
    • Cao, H., and R. A. Hegele. 2000. Nuclear lamin A/C R482Q mutation in canadian kindreds with Dunnigan-type familial partial lipodystrophy. Hum. Mol. Genet. 9: 109-112. (Pubitemid 30145295)
    • (2000) Human Molecular Genetics , vol.9 , Issue.1 , pp. 109-112
    • Cao, H.1    Hegele, R.A.2
  • 8
    • 0036894397 scopus 로고    scopus 로고
    • PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy
    • Hegele, R. A., H. Cao, C. Frankowski, S. T. Mathews, and T. Leff. 2002. PPARG F388L, a transactivation-deficient mutant, in familial partial lipodystrophy. Diabetes. 51: 3586-3590. (Pubitemid 35403468)
    • (2002) Diabetes , vol.51 , Issue.12 , pp. 3586-3590
    • Hegele, R.A.1    Cao, H.2    Frankowski, C.3    Mathews, S.T.4    Leff, T.5
  • 9
    • 0032743737 scopus 로고    scopus 로고
    • Pathogenesis of type III hyperlipoproteinemia (dysbetalipoproteinemia): Questions, quandaries, and paradoxes
    • Mahley, R. W., Y. Huang, and S. C. Rall, Jr. 1999. Pathogenesis of type III hyperlipoproteinemia (dysbetalipoproteinemia). Questions, quandaries, and paradoxes. J. Lipid Res. 40: 1933-1949. (Pubitemid 29523420)
    • (1999) Journal of Lipid Research , vol.40 , Issue.11 , pp. 1933-1949
    • Mahley, R.W.1    Huang, Y.2    Rall Jr., S.C.3
  • 10
    • 0035145898 scopus 로고    scopus 로고
    • Phenotypic heterogeneity in patients with familial partial lipodystrophy (Dunnigan variety) related to the site of missense mutations in lamin A/C gene
    • DOI 10.1210/jc.86.1.59
    • Garg, A., M. Vinaitheerthan, P. T. Weatherall, and A. M. Bowcock. 2001. Phenotypic heterogeneity in patients with familial partial lipodystrophy (dunnigan variety) related to the site of missense mutations in lamin a/c gene. J. Clin. Endocrinol. Metab. 86: 59-65. (Pubitemid 32109776)
    • (2001) Journal of Clinical Endocrinology and Metabolism , vol.86 , Issue.1 , pp. 59-65
    • Garg, A.1    Vinaitheerthan, M.2    Weatherall, P.T.3    Bowcock, A.M.4
  • 11
    • 1542510700 scopus 로고    scopus 로고
    • Acquired and Inherited Lipodystrophies
    • DOI 10.1056/NEJMra025261
    • Garg, A. 2004. Acquired and inherited lipodystrophies. N. Engl. J. Med. 350: 1220-1234. (Pubitemid 38339366)
    • (2004) New England Journal of Medicine , vol.350 , Issue.12 , pp. 1220-1234
    • Garg, A.1
  • 13
    • 1342268100 scopus 로고    scopus 로고
    • Use of the Inactivated Intranasal Influenza Vaccine and the Risk of Bell's Palsy in Switzerland
    • DOI 10.1056/NEJMoa030595
    • Mutsch, M., W. Zhou, P. Rhodes, M. Bopp, R. T. Chen, T. Linder, C. Spyr, and R. Steffen. 2004. Use of the inactivated intranasal influenza vaccine and the risk of Bell's palsy in Switzerland. N. Engl. J. Med. 350: 896-903. (Pubitemid 38252537)
    • (2004) New England Journal of Medicine , vol.350 , Issue.9 , pp. 896-903
    • Mutsch, M.1    Zhou, W.2    Rhodes, P.3    Bopp, M.4    Chen, R.T.5    Linder, T.6    Spyr, C.7    Steffen, R.8
  • 14
    • 0038642086 scopus 로고    scopus 로고
    • A dominant negative PPARgamma mutant shows altered cofactor recruitment and inhibits adipogenesis in 3T3-L1 cells
    • Park, Y., B. D. Freedman, E. J. Lee, S. Park, and J. L. Jameson. 2003. A dominant negative PPARgamma mutant shows altered cofactor recruitment and inhibits adipogenesis in 3T3-L1 cells. Diabetologia. 46: 365-377. (Pubitemid 36547592)
    • (2003) Diabetologia , vol.46 , Issue.3 , pp. 365-377
    • Park, Y.1    Freedman, B.D.2    Lee, E.J.3    Park, S.4    Jameson, J.L.5
  • 15
    • 0037466308 scopus 로고    scopus 로고
    • Molecular dynamics studies of a molecular switch in the glucocorticoid receptor
    • DOI 10.1016/S0022-2836(03)00316-4
    • Stockner, T., H. Sterk, R. Kaptein, and A. M. J. J. Bonvin. 2003. Molecular dynamics studies of a molecular switch in the glucocorticoid receptor. J. Mol. Biol. 328: 325-334. (Pubitemid 36407578)
    • (2003) Journal of Molecular Biology , vol.328 , Issue.2 , pp. 325-334
    • Stockner, T.1    Sterk, H.2    Kaptein, R.3    Bonvin, A.M.J.J.4
  • 16
    • 34247847744 scopus 로고    scopus 로고
    • Altered promoter recycling rates contribute to dominant-negative activity of human peroxisome proliferator-activated receptor-gamma mutations associated with diabetes
    • DOI 10.1210/me.2006-0401
    • Li, G., and T. Leff. 2007. Altered promoter recycling rates contribute to dominant-negative activity of human peroxisome proliferator-activated receptor-gamma mutations associated with diabetes. Mol. Endocrinol. 21: 857-864. (Pubitemid 46984727)
    • (2007) Molecular Endocrinology , vol.21 , Issue.4 , pp. 857-864
    • Li, G.1    Leff, T.2
  • 17
    • 33144478823 scopus 로고    scopus 로고
    • Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3)
    • Francis, G. A., G. Li, R. Casey, J. Wang, H. Cao, T. Leff, and R. A. Hegele. 2006. Peroxisomal proliferator activated receptor-gamma deficiency in a Canadian kindred with familial partial lipodystrophy type 3 (FPLD3). BMC Med. Genet. 7: 3.
    • (2006) BMC Med. Genet. , vol.7 , pp. 3
    • Francis, G.A.1    Li, G.2    Casey, R.3    Wang, J.4    Cao, H.5    Leff, T.6    Hegele, R.A.7
  • 21
    • 22144474079 scopus 로고    scopus 로고
    • Pivotal role of peroxisome proliferator-activated receptor gamma (PPARgamma) in regulation of erythroid progenitor cell proliferation and differentiation
    • DOI 10.1016/j.exphem.2005.05.003, PII S0301472X05002122
    • Nagasawa, E., Y. Abe, J. Nishimura, T. Yanase, H. Nawata, and K. Muta. 2005. Pivotal role of peroxisome proliferator-activated receptor gamma (PPARgamma) in regulation of erythroid progenitor cell proliferation and differentiation. Exp. Hematol. 33: 857-864. (Pubitemid 40982651)
    • (2005) Experimental Hematology , vol.33 , Issue.8 , pp. 857-864
    • Nagasawa, E.1    Abe, Y.2    Nishimura, J.3    Yanase, T.4    Nawata, H.5    Muta, K.6
  • 22
    • 24944588417 scopus 로고    scopus 로고
    • Leukopenia and thrombocytopenia caused by thiazolidinediones
    • Digman, C., A. K. Klein, and A. G. Pittas. 2005. Leukopenia and thrombocytopenia caused by thiazolidinediones. Ann. Intern. Med. 143: 465-466.
    • (2005) Ann. Intern. Med. , vol.143 , pp. 465-466
    • Digman, C.1    Klein, A.K.2    Pittas, A.G.3
  • 23
    • 2542462552 scopus 로고    scopus 로고
    • Ragaglitazar improves glycemic control and lipid profile in type 2 diabetic subjects: A 12-week, double-blind, placebo-controlled dose-ranging study with an open pioglitazone arm
    • DOI 10.2337/diacare.27.6.1324
    • Saad, M. F., S. Greco, K. Osei, A. J. Lewin, C. Edwards, M. Nunez, and R. R. Reinhardt. 2004. Ragaglitazar improves glycemic control and lipid profile in type 2 diabetic subjects: a 12-week, doubleblind, placebo-controlled dose-ranging study with an open pioglitazone arm. Diabetes Care. 27: 1324-1329. (Pubitemid 38679978)
    • (2004) Diabetes Care , vol.27 , Issue.6 , pp. 1324-1329
    • Saad, M.F.1    Greco, S.2    Osei, K.3    Lewin, A.J.4    Edwards, C.5    Nunez, M.6    Reinhardt, R.R.7
  • 24
    • 77649325479 scopus 로고    scopus 로고
    • Marrow suppression with myelodysplastic features, hypoerythropoetinemia, and lipotrophic proptosis due to rosiglitazone
    • Clevidence, D. E., M. B. Juckett, and M. J. Lucarelli. 2009. Marrow suppression with myelodysplastic features, hypoerythropoetinemia, and lipotrophic proptosis due to rosiglitazone. WMJ. 108: 462-465.
    • (2009) WMJ , vol.108 , pp. 462-465
    • Clevidence, D.E.1    Juckett, M.B.2    Lucarelli, M.J.3
  • 25
    • 19944410519 scopus 로고    scopus 로고
    • Mild, reversible pancytopenia induced by rosiglitazone [4]
    • Maaravi, Y., and J. Stessman. 2005. Mild, reversible pancytopenia induced by rosiglitazone. Diabetes Care. 28: 1536. (Pubitemid 40756737)
    • (2005) Diabetes Care , vol.28 , Issue.6 , pp. 1536
    • Maaravi, Y.1    Stessman, J.2
  • 26
    • 67650504733 scopus 로고    scopus 로고
    • Bone-marrow adipocytes as negative regulators of the haematopoietic microenvironment
    • Naveiras, O., V. Nardi, P. L. Wenzel, P. V. Hauschka, F. Fahey, and G. Q. Daley. 2009. Bone-marrow adipocytes as negative regulators of the haematopoietic microenvironment. Nature. 460: 259-263.
    • (2009) Nature , vol.460 , pp. 259-263
    • Naveiras, O.1    Nardi, V.2    Wenzel, P.L.3    Hauschka, P.V.4    Fahey, F.5    Daley, G.Q.6
  • 27
    • 77951455778 scopus 로고    scopus 로고
    • Impact of interactions of cellular components of the bone marrow microenvironment on hematopoietic stem and progenitor cell function
    • Chitteti, B. R., Y-H. Cheng, B. Poteat, S. Rodriguez-Rodriguez, W. S. Goebel, N. Carlesso, M. A. Kacena, and E. F. Srour. 2010. Impact of interactions of cellular components of the bone marrow microenvironment on hematopoietic stem and progenitor cell function. Blood. 115: 3239-3248.
    • (2010) Blood , vol.115 , pp. 3239-3248
    • Chitteti, B.R.1    Cheng, Y.-H.2    Poteat, B.3    Rodriguez-Rodriguez, S.4    Goebel, W.S.5    Carlesso, N.6    Kacena, M.A.7    Srour, E.F.8
  • 29
    • 70350459594 scopus 로고    scopus 로고
    • The nuclear receptor PPAR gamma selectively inhibits Th17 differentiation in a T cell-intrinsic fashion and suppresses CNS autoimmunity
    • Klotz, L., S. Burgdorf, I. Dani, K. Saijo, J. Flossdorf, S. Hucke, J. Alferink, N. Nowak, M. Beyer, et al. 2009. The nuclear receptor PPAR gamma selectively inhibits Th17 differentiation in a T cell-intrinsic fashion and suppresses CNS autoimmunity. J. Exp. Med. 206: 2079-2089.
    • (2009) J. Exp. Med. , vol.206 , pp. 2079-2089
    • Klotz, L.1    Burgdorf, S.2    Dani, I.3    Saijo, K.4    Flossdorf, J.5    Hucke, S.6    Alferink, J.7    Nowak, N.8    Beyer, M.9
  • 30
    • 0035210586 scopus 로고    scopus 로고
    • Peroxisome proliferator-activated receptor-gamma haploinsufficiency enhances B cell proliferative responses and exacerbates experimentally induced arthritis
    • DOI 10.1172/JCI200113202
    • Setoguchi, K., Y. Misaki, Y. Terauchi, T. Yamauchi, K. Kawahata, T. Kadowaki, and K. Yamamoto. 2001. Peroxisome proliferator-activated receptor-gamma haploinsufficiency enhances B cell proliferative responses and exacerbates experimentally induced arthritis. J. Clin. Invest. 108: 1667-1675. (Pubitemid 33144877)
    • (2001) Journal of Clinical Investigation , vol.108 , Issue.11 , pp. 1667-1675
    • Setoguchi, K.1    Misaki, Y.2    Terauchi, Y.3    Yamauchi, T.4    Kawahata, K.5    Kadowaki, T.6    Yamamoto, K.7
  • 31
    • 78650286735 scopus 로고    scopus 로고
    • The nuclear hormone receptor PPARgamma as a therapeutic target in major diseases
    • Schmidt, M. V., B. Brune, and A. von Knethen. 2010. The nuclear hormone receptor PPARgamma as a therapeutic target in major diseases. ScientificWorldJournal. 10: 2181-2197.
    • (2010) ScientificWorldJournal , vol.10 , pp. 2181-2197
    • Schmidt, M.V.1    Brune, B.2    Von Knethen, A.3
  • 32
    • 0032580207 scopus 로고    scopus 로고
    • Allosteric effects of DNA on transcriptional regulators
    • DOI 10.1038/31860
    • Lefstin, J. A., and K. R. Yamamoto. 1998. Allosteric effects of DNA on transcriptional regulators. Nature. 392: 885-888. (Pubitemid 28232051)
    • (1998) Nature , vol.392 , Issue.6679 , pp. 885-888
    • Lefstin, J.A.1    Yamamoto, K.R.2
  • 33
    • 33644867538 scopus 로고    scopus 로고
    • The proteasome: A utility tool for transcription?
    • DOI 10.1016/j.gde.2006.02.009, PII S0959437X06000311, Chromosomes and Expression Mechanisms
    • Collins, G. A., and W. P. Tansey. 2006. The proteasome: a utility tool for transcription? Curr. Opin. Genet. Dev. 16: 197-202. (Pubitemid 43376068)
    • (2006) Current Opinion in Genetics and Development , vol.16 , Issue.2 , pp. 197-202
    • Collins, G.A.1    Tansey, W.P.2
  • 34
    • 63049133308 scopus 로고    scopus 로고
    • PPAR-gamma AF-2 domain functions as a component of a ubiquitin-dependent degradation signal
    • Kilroy, G. E., X. Zhang, and Z. E. Floyd. 2009. PPAR-gamma AF-2 domain functions as a component of a ubiquitin-dependent degradation signal. Obesity (Silver Spring). 17: 665-673.
    • (2009) Obesity (Silver Spring) , vol.17 , pp. 665-673
    • Kilroy, G.E.1    Zhang, X.2    Floyd, Z.E.3
  • 35
    • 55749101777 scopus 로고    scopus 로고
    • Genome-wide profiling of PPARgamma:RXR and RNA polymerase II occupancy reveals temporal activation of distinct metabolic pathways and changes in RXR dimer composition during adipogenesis
    • Nielsen, R., T. A. Pedersen, D. Hagenbeek, P. Moulos, R. Siersbaek, E. Megens, S. Denissov, M. Borgesen, K. J. Francoijs, S. Mandrup, et al. 2008. Genome-wide profiling of PPARgamma:RXR and RNA polymerase II occupancy reveals temporal activation of distinct metabolic pathways and changes in RXR dimer composition during adipogenesis. Genes Dev. 22: 2953-2967.
    • (2008) Genes Dev. , vol.22 , pp. 2953-2967
    • Nielsen, R.1    Pedersen, T.A.2    Hagenbeek, D.3    Moulos, P.4    Siersbaek, R.5    Megens, E.6    Denissov, S.7    Borgesen, M.8    Francoijs, K.J.9    Mandrup, S.10


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.