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Volumn 149, Issue 12, 2009, Pages 2695-2699

Absence of Lamin A/C gene mutations in four Wiedemann-Rautenstrauch syndrome patients

Author keywords

Lamin A C; Neonatal progeria; Sequence; Wiedemann Rautenstrauch syndrome

Indexed keywords

LAMIN A; LAMIN C;

EID: 71949128396     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33090     Document Type: Article
Times cited : (20)

References (21)
  • 1
    • 0041919374 scopus 로고    scopus 로고
    • Zinc metalloproteinase ZMPSTE24, is mutated in mandibuloacral dysplasia
    • DOI 10.1093/hmg/ddg213
    • Agarwal AK, Fryns JP, Auchus RJ, Garg A. 2003. Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. Hum Mol Genet 12:1995-2001. (Pubitemid 37038808)
    • (2003) Human Molecular Genetics , vol.12 , Issue.16 , pp. 1995-2001
    • Agarwal, A.K.1    Fryns, J.-P.2    Auchus, R.J.3    Garg, A.4
  • 2
    • 23944503267 scopus 로고    scopus 로고
    • Follow-up study of Wiedemann- Rautenstrauch syndrome: Long-term survival and comparison with Rautenstrauch's patient "G"
    • Arboleda H, Arboleda G. 2005. Follow-up study of Wiedemann- Rautenstrauch syndrome: Long-term survival and comparison with Rautenstrauch's patient "G". Birth Defects Res A 73:562-568.
    • (2005) Birth Defects Res A , vol.73 , pp. 562-568
    • Arboleda, H.1    Arboleda, G.2
  • 3
    • 0030949285 scopus 로고    scopus 로고
    • Wiedemann-Rautenstrauch neonatal progeroid syndrome: Report of three new patients
    • Arboleda H, Quintero L, Yunis E. 1997. Wiedemann-Rautenstrauch neonatal progeroid syndrome: Report of three new patients. J Med Genet 34:433-437. (Pubitemid 27226687)
    • (1997) Journal of Medical Genetics , vol.34 , Issue.5 , pp. 433-437
    • Arboleda, H.1    Quintero, L.2    Yunis, E.3
  • 4
    • 34548670496 scopus 로고    scopus 로고
    • The neonatal progeroid syndrome (Wiedemann-Rautenstrauch): A model for the study of human aging?
    • Arboleda G, Ramirez N, Arboleda H. 2007. The neonatal progeroid syndrome (Wiedemann-Rautenstrauch): A model for the study of human aging? Exp Gerontol 42:939-943.
    • (2007) Exp Gerontol , vol.42 , pp. 939-943
    • Arboleda, G.1    Ramirez, N.2    Arboleda, H.3
  • 6
    • 47349118629 scopus 로고    scopus 로고
    • The farnesylated nuclear proteins KUGELKERN and LAMIN B promote aging-like phenotypes in Drosophila flies
    • DOI 10.1111/j.1474-9726.2008.00406.x
    • Brandt A, Krohne G, Grosshans J. 2008. The farnesylated nuclear proteins KUGELKERN and LAMIN B promote aging-like phenotypes in Drosophila flies. Aging Cell 7:541-551. (Pubitemid 351998614)
    • (2008) Aging Cell , vol.7 , Issue.4 , pp. 541-551
    • Brandt, A.1    Krohne, G.2    Grosshans, J.3
  • 7
    • 0038376023 scopus 로고    scopus 로고
    • LMNA is mutated in Hutchinson-Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch progeroid syndrome (MIM 264090)
    • DOI 10.1007/s10038-003-0025-3
    • Cao H, Hegele RA. 2003. LMNA is mutated in Hutchinson- Gilford progeria (MIM 176670) but not in Wiedemann-Rautenstrauch utenstrauch progeroid syndrome (MIM 264090). J Hum Genet 48: 271-274. (Pubitemid 36759489)
    • (2003) Journal of Human Genetics , vol.48 , Issue.5 , pp. 271-274
    • Cao, H.1    Hegele, R.A.2
  • 10
    • 28744453386 scopus 로고    scopus 로고
    • Phenotypic heterogeneity in body fat distribution in patients with atypical Werner's syndrome due to heterozygous Arg133Leu lamin A/ C mutation
    • Jacob KN, Baptista F, dos Santos HG, Oshima J, Agarwal AK, Garg A. 2005. Phenotypic heterogeneity in body fat distribution in patients with atypical Werner's syndrome due to heterozygous Arg133Leu lamin A/ C mutation. J Clin Endocrinol Metab 90:6699-6706.
    • (2005) J Clin Endocrinol Metab , vol.90 , pp. 6699-6706
    • Jacob, K.N.1    Baptista, F.2    Dos Santos, H.G.3    Oshima, J.4    Agarwal, A.K.5    Garg, A.6
  • 11
    • 0027257461 scopus 로고
    • Structural organization of the human gene encoding nuclear lamin a and nuclear lamin C
    • Lin F, Worman HJ. 1993. Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C. J Biol Chem 268: 16321-16326. (Pubitemid 23229934)
    • (1993) Journal of Biological Chemistry , vol.268 , Issue.22 , pp. 16321-16326
    • Lin, F.1    Worman, H.J.2
  • 12
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. 1988. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 16:1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 14
    • 34447341169 scopus 로고    scopus 로고
    • Body fat distribution and metabolic variables in patients with neonatal progeroid syndrome
    • O'neill B, Simha V, Kotha V, Garg A. 2007. Body fat distribution and metabolic variables in patients with neonatal progeroid syndrome. Am J Med Genet Part A 143A:1421-1430.
    • (2007) Am J Med Genet Part A , vol.143 A , pp. 1421-1430
    • O'Neill, B.1    Simha, V.2    Kotha, V.3    Garg, A.4
  • 16
    • 0017347683 scopus 로고
    • Progeria: A cell culture study and clinical report of familial incidence
    • DOI 10.1007/BF00477545
    • Rautenstrauch T, Snigula F. 1977. Progeria: A cell culture study and clinical report of familial incidence. Eur J Pediatr 124:101-111. (Pubitemid 8021695)
    • (1977) European Journal of Pediatrics , vol.124 , Issue.2 , pp. 101-111
    • Rautenstrauch, T.1    Snigula, F.2    Krieg, T.3
  • 17
    • 0028126479 scopus 로고
    • NEONATALES PROGEROIDES SYNDROM (WIEDEMANN-RAUTENSTRAUCH) - EINE FOLLOW-UP-STUDIE
    • Rautenstrauch T, Snigula F, Wiedemann HR. 1994. [Neonatal progeroid syndrome (Wiedemann-Rautenstrauch). A follow-up study]. Klin Padiatr 206:440-443. (Pubitemid 24363388)
    • (1994) Klinische Padiatrie , vol.206 , Issue.6 , pp. 440-443
    • Rautenstrauch, Th.1    Snigula, F.2    Wiedemann, H.-R.3
  • 19
    • 32544437002 scopus 로고    scopus 로고
    • Brief report: A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features
    • DOI 10.1210/jc.2005-1297
    • Van Esch H, Agarwal AK, Debeer P, Fryns JP, Garg A. 2006. A homozygous mutation in the lamin A/C gene associated with a novel syndrome of arthropathy, tendinous calcinosis, and progeroid features. J Clin Endocrinol Metab 91:517-521. (Pubitemid 43236918)
    • (2006) Journal of Clinical Endocrinology and Metabolism , vol.91 , Issue.2 , pp. 517-521
    • Van Esch, H.1    Agarwal, A.K.2    Debeer, P.3    Fryns, J.-P.4    Garg, A.5
  • 21
    • 0018373151 scopus 로고
    • An unidentified neonatal progeroid syndrome: Follow-up report
    • Wiedemann HR. 1979. An unidentified neonatal progeroid syndrome: Follow-up report. Eur J Pediatr 130:65-70. (Pubitemid 9125580)
    • (1979) European Journal of Pediatrics , vol.130 , Issue.1 , pp. 65-70
    • Wiedemann, H.R.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.