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Volumn 120, Issue 4, 2007, Pages 824-833

Disease progression in Hutchinson-Gilford progeria syndrome: Impact on growth and development

Author keywords

Clinical trial; Developmental dysplasia; Hutchinson Gilford progeria syndrome; Osteoporosis; Progeria

Indexed keywords

ADOLESCENT; AGE DISTRIBUTION; ARTICLE; AVASCULAR NECROSIS; BODY WEIGHT; BONE; BONE DEMINERALIZATION; CHILD DEVELOPMENT; CLAVICLE; CLINICAL ARTICLE; CONTROLLED STUDY; DATA ANALYSIS; DATA BASE; DIAPHYSIS; DISEASE COURSE; FEMALE; FEMUR; HUMAN; INFORMATION PROCESSING; MALE; MANDIBLE; MAXILLA; MEDICAL INFORMATION; OUTCOME ASSESSMENT; PHENOTYPE; PREMATURE AGING; PRIORITY JOURNAL; PROGERIA; SCHOOL CHILD; SEX RATIO;

EID: 35148831133     PISSN: 00314005     EISSN: 02105721     Source Type: Journal    
DOI: 10.1542/peds.2007-1357     Document Type: Article
Times cited : (98)

References (43)
  • 1
    • 0021783284 scopus 로고
    • Progeria, a model disease for the study of accelerated aging
    • Brown W, Zebrower M, Kieras F. Progeria, a model disease for the study of accelerated aging. Basic Life Sci. 1985;35:375-396
    • (1985) Basic Life Sci , vol.35 , pp. 375-396
    • Brown, W.1    Zebrower, M.2    Kieras, F.3
  • 2
    • 0015319601 scopus 로고
    • The Hutchinson-Gilford progeria syndrome. Report of 4 cases and review of the literature
    • DeBusk FL. The Hutchinson-Gilford progeria syndrome. Report of 4 cases and review of the literature. J Pediatr. 1972;80:697-724
    • (1972) J Pediatr , vol.80 , pp. 697-724
    • DeBusk, F.L.1
  • 3
    • 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
  • 4
    • 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. LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090). J Hum Genet. 2003;48:271-274
    • (2003) J Hum Genet , vol.48 , pp. 271-274
    • Cao, H.1    Hegele, R.A.2
  • 5
    • 10744229294 scopus 로고    scopus 로고
    • Lamin a truncation in Hutchinson-Gilford progeria
    • De Sandre-Giovannoli A, Bernard R, Cau P, et al. Lamin a truncation in Hutchinson-Gilford progeria. Science. 2003;300:2055
    • (2003) Science , vol.300 , pp. 2055
    • De Sandre-Giovannoli, A.1    Bernard, R.2    Cau, P.3
  • 6
    • 0037673950 scopus 로고    scopus 로고
    • Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome
    • Eriksson M, Brown WT, Gordon LB, et al. Recurrent de novo point mutations in lamin A cause Hutchinson-Gilford progeria syndrome. Nature. 2003;423:293-298
    • (2003) Nature , vol.423 , pp. 293-298
    • Eriksson, M.1    Brown, W.T.2    Gordon, L.B.3
  • 7
    • 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, et al. Accumulation of mutant lamin A causes progressive changes in nuclear architecture in Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A. 2004;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
  • 9
    • 0027104845 scopus 로고
    • Report on a case of Hutchinson-Gilford progeria, with special reference to orthopedic problems
    • Fernandez-Palazzi F, McLaren AT, Slowie DF. Report on a case of Hutchinson-Gilford progeria, with special reference to orthopedic problems. Eur J Pediatr Surg. 1992;2:378-382
    • (1992) Eur J Pediatr Surg , vol.2 , pp. 378-382
    • Fernandez-Palazzi, F.1    McLaren, A.T.2    Slowie, D.F.3
  • 10
    • 0019406489 scopus 로고
    • Progeria with carotid artery aneurysms: Report of a case
    • Green LN. Progeria with carotid artery aneurysms: report of a case. Arch Neurol. 1981;38:659-661
    • (1981) Arch Neurol , vol.38 , pp. 659-661
    • Green, L.N.1
  • 11
    • 0020043985 scopus 로고
    • Orthopaedic aspects of progeria
    • Moen C. Orthopaedic aspects of progeria. J Bone Joint Surg Am. 1982;64:542-546
    • (1982) J Bone Joint Surg Am , vol.64 , pp. 542-546
    • Moen, C.1
  • 12
    • 0021618194 scopus 로고
    • Hip disease in Hutchinson-Gilford progeria syndrome
    • Gamble JG. Hip disease in Hutchinson-Gilford progeria syndrome. J Pediatr Orthop. 1984;4:585-589
    • (1984) J Pediatr Orthop , vol.4 , pp. 585-589
    • Gamble, J.G.1
  • 13
    • 0024151368 scopus 로고
    • Progeria in a pediatric dental patient: Literature review and case report
    • Hasty MF, Vann J. Progeria in a pediatric dental patient: literature review and case report. Pediatr Dent. 1988;10:314-319
    • (1988) Pediatr Dent , vol.10 , pp. 314-319
    • Hasty, M.F.1    Vann, J.2
  • 15
    • 84964125585 scopus 로고
    • Progeria syndrome with characteristic deformation of proximal radius observed on CT
    • Sood S, Rao RC, Ragav B, Berry M. Progeria syndrome with characteristic deformation of proximal radius observed on CT. Acta Radiol. 1991;32:67-68
    • (1991) Acta Radiol , vol.32 , pp. 67-68
    • Sood, S.1    Rao, R.C.2    Ragav, B.3    Berry, M.4
  • 16
    • 0017056844 scopus 로고
    • Progeria with osteoarthritis in a four-year-old girl. A case report
    • Gupte S, Pal M, Sharma Y, Kohli U. Progeria with osteoarthritis in a four-year-old girl. A case report. Indian J Pediatr. 1976;43:319-320
    • (1976) Indian J Pediatr , vol.43 , pp. 319-320
    • Gupte, S.1    Pal, M.2    Sharma, Y.3    Kohli, U.4
  • 17
    • 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, et al. Inhibiting farnesylation of progerin prevents the characteristic nuclear blebbing of Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A. 2005;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
  • 18
    • 33645060977 scopus 로고    scopus 로고
    • A protein farnesyltransferase inhibitor ameliorates disease in a mouse model of progeria
    • Fong LG, Frost D, Meta M, et al. A protein farnesyltransferase inhibitor ameliorates disease in a mouse model of progeria. Science. 2006;311:1621-1623
    • (2006) Science , vol.311 , pp. 1621-1623
    • Fong, L.G.1    Frost, D.2    Meta, M.3
  • 19
    • 27544498316 scopus 로고    scopus 로고
    • Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition
    • Glynn MW, Glover TW. Incomplete processing of mutant lamin A in Hutchinson-Gilford progeria leads to nuclear abnormalities, which are reversed by farnesyltransferase inhibition. Hum Mol Genet. 2005;14:2959-2969
    • (2005) Hum Mol Genet , vol.14 , pp. 2959-2969
    • Glynn, M.W.1    Glover, T.W.2
  • 20
    • 24644459728 scopus 로고    scopus 로고
    • Blocking protein farnesyltransferase improves nuclear shape in fibroblasts from humans with progeroid syndromes
    • Toth JI, Yang SH, Qiao X, et al. Blocking protein farnesyltransferase improves nuclear shape in fibroblasts from humans with progeroid syndromes. Proc Natl Acad Sci U S A. 2005;102:12873-12878
    • (2005) Proc Natl Acad Sci U S A , vol.102 , pp. 12873-12878
    • Toth, J.I.1    Yang, S.H.2    Qiao, X.3
  • 21
    • 22544440839 scopus 로고    scopus 로고
    • Blocking protein farnesyltransferase improves nuclear blebbing in mouse fibroblasts with a targeted Hutchinson-Gilford progeria syndrome mutation
    • Yang SH, Bergo MO, Toth JI, et al. Blocking protein farnesyltransferase improves nuclear blebbing in mouse fibroblasts with a targeted Hutchinson-Gilford progeria syndrome mutation. Proc Natl Acad Sci U S A. 2005;102:10291-10296
    • (2005) Proc Natl Acad Sci U S A , vol.102 , pp. 10291-10296
    • Yang, S.H.1    Bergo, M.O.2    Toth, J.I.3
  • 22
    • 33746715642 scopus 로고    scopus 로고
    • A farnesyltransferase inhibitor improves disease phenotypes in mice with a Hutchinson-Gilford progeria syndrome mutation
    • Yang SH, Meta M, Qiao X, et al. A farnesyltransferase inhibitor improves disease phenotypes in mice with a Hutchinson-Gilford progeria syndrome mutation. J Clin Invest. 2006;116:2115-2121
    • (2006) J Clin Invest , vol.116 , pp. 2115-2121
    • Yang, S.H.1    Meta, M.2    Qiao, X.3
  • 23
    • 28344445866 scopus 로고    scopus 로고
    • Rescue of heterochromatin organization in Hutchinson-Gilford progeria by drug treatment
    • Columbaro M, Capanni C, Mattioli E, et al. Rescue of heterochromatin organization in Hutchinson-Gilford progeria by drug treatment. Cell Mol Life Sci. 2005;62:2669-2678
    • (2005) Cell Mol Life Sci , vol.62 , pp. 2669-2678
    • Columbaro, M.1    Capanni, C.2    Mattioli, E.3
  • 24
    • 30744473703 scopus 로고    scopus 로고
    • Correction of cellular phenotypes of Hutchinson-Gilford progeria cells by RNA interference
    • Huang S, Chen L, Libina N, et al. Correction of cellular phenotypes of Hutchinson-Gilford progeria cells by RNA interference. Hum Genet. 2005;118:444-450
    • (2005) Hum Genet , vol.118 , pp. 444-450
    • Huang, S.1    Chen, L.2    Libina, N.3
  • 25
    • 17644373758 scopus 로고    scopus 로고
    • Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome
    • Scaffidi P, Misteli T. Reversal of the cellular phenotype in the premature aging disease Hutchinson-Gilford progeria syndrome. Nat Med. 2005;11:440-445
    • (2005) Nat Med , vol.11 , pp. 440-445
    • Scaffidi, P.1    Misteli, T.2
  • 27
    • 2342644879 scopus 로고    scopus 로고
    • Aging of Hutchinson-Gilford progeria syndrome fibroblasts is characterised by hyperproliferation and increased apoptosis
    • Bridger JM, Kill IR. Aging of Hutchinson-Gilford progeria syndrome fibroblasts is characterised by hyperproliferation and increased apoptosis. Exp Gerontol. 2004;39:717-724
    • (2004) Exp Gerontol , vol.39 , pp. 717-724
    • Bridger, J.M.1    Kill, I.R.2
  • 28
    • 0015122125 scopus 로고
    • Progeria: A cell culture study on aging
    • Danes BS. Progeria: a cell culture study on aging. J Clin Invest. 1971;50:2000-2003
    • (1971) J Clin Invest , vol.50 , pp. 2000-2003
    • Danes, B.S.1
  • 29
    • 0014687140 scopus 로고
    • Lifespan of cultured cells in progeria
    • Goldstein S. Lifespan of cultured cells in progeria. Lancet. 1969;1(7591):424
    • (1969) Lancet , vol.1 , Issue.7591 , pp. 424
    • Goldstein, S.1
  • 30
    • 0018582501 scopus 로고
    • Studies on age-related diseases in cultured skin fibroblasts
    • Goldstein S. Studies on age-related diseases in cultured skin fibroblasts. J Invest Dermatol. 1979;73:19-23
    • (1979) J Invest Dermatol , vol.73 , pp. 19-23
    • Goldstein, S.1
  • 31
    • 33646745137 scopus 로고    scopus 로고
    • Lamin A-dependent nuclear defects in human aging
    • Scaffidi P, Misteli T. Lamin A-dependent nuclear defects in human aging. Science. 2006;312:1059-1063
    • (2006) Science , vol.312 , pp. 1059-1063
    • Scaffidi, P.1    Misteli, T.2
  • 32
    • 0023894266 scopus 로고
    • The musculoskeletal manifestations of progeria: A literature review
    • Hamer L, Kaplan F, Fallon M. The musculoskeletal manifestations of progeria: a literature review. Orthopedics. 1988;11:763-769
    • (1988) Orthopedics , vol.11 , pp. 763-769
    • Hamer, L.1    Kaplan, F.2    Fallon, M.3
  • 33
    • 33847735383 scopus 로고    scopus 로고
    • A review of osteoporosis: Diagnosis and treatment
    • quiz 615-616
    • Llorens R. A review of osteoporosis: diagnosis and treatment. Mo Med. 2006;103:612-615; quiz 615-616
    • (2006) Mo Med , vol.103 , pp. 612-615
    • Llorens, R.1
  • 35
    • 33845492405 scopus 로고    scopus 로고
    • Postmenopausal osteoporosis and atheroma
    • Rajzbaum G, Bezie Y. Postmenopausal osteoporosis and atheroma. Joint Bone Spine. 2006;73:661-666
    • (2006) Joint Bone Spine , vol.73 , pp. 661-666
    • Rajzbaum, G.1    Bezie, Y.2
  • 36
    • 0034009870 scopus 로고    scopus 로고
    • Pathogenesis of bone erosions in rheumatoid arthritis
    • Goldring S, Gravallese E. Pathogenesis of bone erosions in rheumatoid arthritis. Curr Opin Rheumatol. 2000;12:195-199
    • (2000) Curr Opin Rheumatol , vol.12 , pp. 195-199
    • Goldring, S.1    Gravallese, E.2
  • 37
    • 0027570920 scopus 로고
    • Audiologic and otolaryngologic findings in progeria: Case report
    • Hall JW 3rd, Denneny JC 3rd. Audiologic and otolaryngologic findings in progeria: case report. J Am Acad Audiol. 1993;4:116-121
    • (1993) J Am Acad Audiol , vol.4 , pp. 116-121
    • Hall 3rd, J.W.1    Denneny 3rd, J.C.2
  • 38
    • 0141568083 scopus 로고
    • Ectopic eruption pattern in selected permanent teeth
    • O'Meara W. Ectopic eruption pattern in selected permanent teeth. J Dent Res. 1962;41:607-616
    • (1962) J Dent Res , vol.41 , pp. 607-616
    • O'Meara, W.1
  • 40
    • 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, et al. Genome-scale expression profiling of Hutchinson-Gilford progeria syndrome reveals widespread transcriptional misregulation leading to mesodermal/mesenchymal defects and accelerated atherosclerosis. Aging Cell. 2004;3:235-243
    • (2004) Aging Cell , vol.3 , pp. 235-243
    • Csoka, A.B.1    English, S.B.2    Simkevich, C.P.3
  • 42
    • 33745214476 scopus 로고    scopus 로고
    • Aggrecan expression is substantially and abnormally upregulated in Hutchinson-Gilford progeria syndrome dermal fibroblasts
    • Lemire JM, Patis C, Gordon LB, Sandy JD, Toole BP, Weiss AS. Aggrecan expression is substantially and abnormally upregulated in Hutchinson-Gilford progeria syndrome dermal fibroblasts. Mech Ageing Dev. 2006;127:660-669
    • (2006) Mech Ageing Dev , vol.127 , pp. 660-669
    • Lemire, J.M.1    Patis, C.2    Gordon, L.B.3    Sandy, J.D.4    Toole, B.P.5    Weiss, A.S.6
  • 43
    • 33644770201 scopus 로고    scopus 로고
    • Progressive vascular smooth muscle cell defects in a mouse model of Hutchinson-Gilford progeria syndrome
    • Varga R, Eriksson M, Erdos MR, et al. Progressive vascular smooth muscle cell defects in a mouse model of Hutchinson-Gilford progeria syndrome. Proc Natl Acad Sci U S A. 2006;103:3250-3255
    • (2006) Proc Natl Acad Sci U S A , vol.103 , pp. 3250-3255
    • Varga, R.1    Eriksson, M.2    Erdos, M.R.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.