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Volumn 5, Issue 6, 2013, Pages 445-459

Progeroid laminopathy with restrictive dermopathy-like features caused by an isodisomic LMNA mutation p.R435C

Author keywords

53BP1; DNA damage; LMNA; Progeroid syndrome; uniparental disomy

Indexed keywords


EID: 84880587519     PISSN: 19454589     EISSN: None     Source Type: Journal    
DOI: 10.18632/aging.100566     Document Type: Article
Times cited : (13)

References (28)
  • 1
    • 34249788998 scopus 로고    scopus 로고
    • "Laminopathies": a wide spectrum of human diseases
    • Worman HJ and Bonne G. "Laminopathies": a wide spectrum of human diseases. Exp Cell Res. 2007; 313:2121-2133.
    • (2007) Exp Cell Res , vol.313 , pp. 2121-2133
    • Worman, H.J.1    Bonne, G.2
  • 2
    • 65149090533 scopus 로고    scopus 로고
    • Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model
    • Coutinho HD, Falcao-Silva VS, Goncalves GF and da Nobrega RB. Molecular ageing in progeroid syndromes: Hutchinson-Gilford progeria syndrome as a model. Immun Ageing. 2009; 6:4.
    • (2009) Immun Ageing , vol.6 , pp. 4
    • Coutinho, H.D.1    Falcao-Silva, V.S.2    Goncalves, G.F.3    da Nobrega, R.B.4
  • 5
    • 33845269544 scopus 로고    scopus 로고
    • Hutchinson-Gilford progeria syndrome: review of the phenotype
    • Hennekam RC. Hutchinson-Gilford progeria syndrome: review of the phenotype. Am J Med Genet A. 2006; 140:2603-2624.
    • (2006) Am J Med Genet A , vol.140 , pp. 2603-2624
    • Hennekam, R.C.1
  • 6
    • 0041919374 scopus 로고    scopus 로고
    • Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia
    • Agarwal AK, Fryns JP, Auchus RJ and Garg A. Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. Hum Mol Genet. 2003; 12:1995-2001.
    • (2003) Hum Mol Genet , vol.12 , pp. 1995-2001
    • Agarwal, A.K.1    Fryns, J.P.2    Auchus, R.J.3    Garg, A.4
  • 11
    • 69949144385 scopus 로고    scopus 로고
    • Genomic instability and DNA damage responses in progeria arising from defective maturation of prelamin A
    • Musich PR and Zou Y. Genomic instability and DNA damage responses in progeria arising from defective maturation of prelamin A. Aging (Albany NY). 2009; 1:28-37.
    • (2009) Aging (Albany NY) , vol.1 , pp. 28-37
    • Musich, P.R.1    Zou, Y.2
  • 15
    • 33748993124 scopus 로고    scopus 로고
    • Molecular bases of progeroid syndromes
    • Navarro CL, Cau P and Levy N. Molecular bases of progeroid syndromes. Hum Mol Genet. 2006; 15 Spec No 2:R151-161.
    • (2006) Hum Mol Genet , vol.15 , Issue.SPEC. 2
    • Navarro, C.L.1    Cau, P.2    Levy, N.3
  • 16
    • 84856646656 scopus 로고    scopus 로고
    • Accelerated aging syndromes, are they relevant to normal human aging?
    • (Albany NY)
    • Dreesen O and Stewart CL. Accelerated aging syndromes, are they relevant to normal human aging? Aging (Albany NY). 2011; 3:889-895.
    • (2011) Aging , vol.3 , pp. 889-895
    • Dreesen, O.1    Stewart, C.L.2
  • 18
    • 84859514845 scopus 로고    scopus 로고
    • Robust nuclear lamina-based cell classification of aging and senescent cells
    • (Albany NY)
    • Righolt CH, Van't Hoff ML, Vermolen BJ, Young IT and Raz V. Robust nuclear lamina-based cell classification of aging and senescent cells. Aging (Albany NY). 2011; 3:1192-1201.
    • (2011) Aging , vol.3 , pp. 1192-1201
    • Righolt, C.H.1    Van't Hoff, M.L.2    Vermolen, B.J.3    Young, I.T.4    Raz, V.5
  • 20
    • 0344309291 scopus 로고    scopus 로고
    • Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene
    • Muchir A, van Engelen BG, Lammens M, Mislow JM, McNally E, Schwartz K and Bonne G. Nuclear envelope alterations in fibroblasts from LGMD1B patients carrying nonsense Y259X heterozygous or homozygous mutation in lamin A/C gene. Exp Cell Res. 2003; 291:352-362.
    • (2003) Exp Cell Res , vol.291 , pp. 352-362
    • Muchir, A.1    van Engelen, B.G.2    Lammens, M.3    Mislow, J.M.4    McNally, E.5    Schwartz, K.6    Bonne, G.7
  • 23
    • 80655140442 scopus 로고    scopus 로고
    • Progeria, rapamycin and normal aging: recent breakthrough
    • (Albany NY)
    • Blagosklonny MV. Progeria, rapamycin and normal aging: recent breakthrough. Aging (Albany NY). 2011; 3:685-691.
    • (2011) Aging , vol.3 , pp. 685-691
    • Blagosklonny, M.V.1
  • 24
    • 84868017249 scopus 로고    scopus 로고
    • A filtering strategy identifies FOXQ1 as a potential effector of lamin A dysfunction
    • (Albany NY)
    • Candelario J, Chen LY, Marjoram P, Reddy S and Comai L. A filtering strategy identifies FOXQ1 as a potential effector of lamin A dysfunction. Aging (Albany NY). 2012; 4:567-577.
    • (2012) Aging , vol.4 , pp. 567-577
    • Candelario, J.1    Chen, L.Y.2    Marjoram, P.3    Reddy, S.4    Comai, L.5
  • 25
    • 80655140622 scopus 로고    scopus 로고
    • Regulating the levels of key factors in cell cycle and DNA repair: new pathways revealed by lamins
    • Redwood AB, Gonzalez-Suarez I and Gonzalo S. Regulating the levels of key factors in cell cycle and DNA repair: new pathways revealed by lamins. Cell Cycle. 2011; 10:3652-3657.
    • (2011) Cell Cycle , vol.10 , pp. 3652-3657
    • Redwood, A.B.1    Gonzalez-Suarez, I.2    Gonzalo, S.3
  • 26
    • 80052784590 scopus 로고    scopus 로고
    • Retinoblastoma-independent regulation of cell proliferation and senescence by the p53-p21 axis in lamin A /Cdepleted cells
    • Moiseeva O, Bourdeau V, Vernier M, Dabauvalle MC and Ferbeyre G. Retinoblastoma-independent regulation of cell proliferation and senescence by the p53-p21 axis in lamin A /Cdepleted cells. Aging Cell. 2011; 10:789-797.
    • (2011) Aging Cell , vol.10 , pp. 789-797
    • Moiseeva, O.1    Bourdeau, V.2    Vernier, M.3    Dabauvalle, M.C.4    Ferbeyre, G.5
  • 27
    • 55249116558 scopus 로고    scopus 로고
    • Gamma-H2AX in recognition and signaling of DNA double-strand breaks in the context of chromatin
    • Kinner A, Wu W, Staudt C and Iliakis G. Gamma-H2AX in recognition and signaling of DNA double-strand breaks in the context of chromatin. Nucleic Acids Res. 2008; 36:5678-5694.
    • (2008) Nucleic Acids Res , vol.36 , pp. 5678-5694
    • Kinner, A.1    Wu, W.2    Staudt, C.3    Iliakis, G.4


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.