메뉴 건너뛰기




Volumn 35, Issue 1, 2009, Pages 18-21

A case of Dunnigan-type familial partial lipodystrophy (FPLD) due to lamin A/C (LMNA) mutations complicated by end-stage renal disease

Author keywords

Diabetes mellitus; Familial partial lipodystrophy; Lamin A C; LMNA; Renal dysfunction

Indexed keywords

ARGININE; CREATININE; GLUTAMINE; INSULIN; LAMIN A; LAMIN C;

EID: 63449111006     PISSN: 1355008X     EISSN: 15590100     Source Type: Journal    
DOI: 10.1007/s12020-008-9127-1     Document Type: Article
Times cited : (15)

References (25)
  • 1
    • 0015979147 scopus 로고
    • Familial lipoatrophic diabetes with dominant transmission: A new syndrome
    • MG Dunnigan MA Cochrane A Kelly JW Scott 1974 Familial lipoatrophic diabetes with dominant transmission: a new syndrome Q J Med 43 33 48
    • (1974) Q J Med , vol.43 , pp. 33-48
    • Dunnigan, M.G.1    Cochrane, M.A.2    Kelly, A.3    Scott, J.W.4
  • 3
    • 0020037655 scopus 로고
    • Familial partial lipodystrophy: Complications of obesity in the non-obese?
    • DC Robbins ES Horton O Tulp EA Sims 1982 Familial partial lipodystrophy: complications of obesity in the non-obese? Metab Clin Exp 31 445 452
    • (1982) Metab Clin Exp , vol.31 , pp. 445-452
    • Robbins, D.C.1    Horton, E.S.2    Tulp, O.3    Sims, E.A.4
  • 4
    • 1842848578 scopus 로고    scopus 로고
    • Post-mortem findings in familial partial lipodystrophy, Dunnigan variety
    • DOI 10.1046/j.1464-5491.2002.00796.x
    • WA Haque F Vuitch A Garg 2002 Postmortem findings in patients with familial partial lipodystrophy, Dunnigan variety Diabet Med 19 1022 1025 (Pubitemid 35471972)
    • (2002) Diabetic Medicine , vol.19 , Issue.12 , pp. 1022-1025
    • Haque, W.A.1    Vuitch, F.2    Garg, A.3
  • 5
    • 0141895071 scopus 로고    scopus 로고
    • Monogenic forms of insulin resistance: Apertures that expose the common metabolic syndrome
    • DOI 10.1016/S1043-2760(03)00142-5
    • RA Hegele 2003 Monogenic forms of insulin resistance: apertures that expose the common metabolic syndrome Trends Endocrinol Metab 14 371 377 (Pubitemid 37236958)
    • (2003) Trends in Endocrinology and Metabolism , vol.14 , Issue.8 , pp. 371-377
    • Hegele, R.A.1
  • 6
    • 0034059075 scopus 로고    scopus 로고
    • Nuclear lamin A/C R482Q mutation in Canadian kindreds with Dunnigan-type familial partial lipodystrophy
    • H Cao RA 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
  • 7
    • 0033912260 scopus 로고    scopus 로고
    • Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the global C-terminal domain of lamin A/C
    • DOI 10.1086/302836
    • RA Speckman A Garg F Du L Bennett R Veile E Arioglu SI Taylor M Lovett AM Bowcock 2000 Mutational and haplotype analyses of families with familial partial lipodystrophy (Dunnigan variety) reveal recurrent missense mutations in the globular C-terminal domain of lamin A/C Am J Hum Genet 66 1192 1198 (Pubitemid 30468776)
    • (2000) American Journal of Human Genetics , vol.66 , Issue.4 , pp. 1192-1198
    • Speckman, R.A.1    Garg, A.2    Du, F.3    Bennett, L.4    Veile, R.5    Arioglu, E.6    Taylor, S.I.7    Lovett, M.8    Bowcock, A.M.9
  • 9
    • 0031932459 scopus 로고    scopus 로고
    • Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22
    • DOI 10.1038/ng0398-292
    • JM Peters R Barnes L Bennett WM Gitomer AM Bowcock A Garg 1998 Localization of the gene for familial partial lipodystrophy (Dunnigan variety) to chromosome 1q21-22 Nat Genet 18 292 295 (Pubitemid 28117272)
    • (1998) Nature Genetics , vol.18 , Issue.3 , pp. 292-298
    • Peters, J.M.1    Barnes, R.2    Bennett, L.3    Gitomer, W.M.4    Bowcock, A.M.5    Garg, A.6
  • 10
    • 0034455698 scopus 로고    scopus 로고
    • Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety)
    • DOI 10.1210/jc.85.5.1776
    • A Garg 2001 Gender differences in the prevalence of metabolic complications in familial partial lipodystrophy (Dunnigan variety) J Clin Endocrinol Metab 85 1776 1782 (Pubitemid 32269275)
    • (2000) Journal of Clinical Endocrinology and Metabolism , vol.85 , Issue.5 , pp. 1776-1782
    • Garg, A.1
  • 11
    • 0035826724 scopus 로고    scopus 로고
    • Premature atherosclerosis associated with monogenic insulin resistance
    • RA Hegele 2001 Premature atherosclerosis associated with monogenic insulin resistance Circulation 103 2225 2229 (Pubitemid 32433709)
    • (2001) Circulation , vol.103 , Issue.18 , pp. 2225-2229
    • Hegele, R.A.1
  • 12
    • 0041667987 scopus 로고    scopus 로고
    • Risk factors for diabetes in familial partial lipodystrophy, Dunnigan variety
    • DOI 10.2337/diacare.26.5.1350
    • WA Haque EA Oral K Dietz AM Bowcock AK Agarwal A Garg 2003 Risk factors for diabetes in familial partial lipodystrophy, Dunnigan variety Diabetes Care 26 1350 1355 (Pubitemid 36929162)
    • (2003) Diabetes Care , vol.26 , Issue.5 , pp. 1350-1355
    • Haque, W.A.1    Oral, E.A.2    Dietz, K.3    Bowcock, A.M.4    Agarwal, A.K.5    Garg, A.6
  • 13
    • 0027380971 scopus 로고
    • Evidence for high risk of cerebral hemorrhage in chronic dialysis patients
    • K Iseki K Kinjo Y Kimura A Osawa K Fukiyama 1993 Evidence for high risk of cerebral hemorrhage in chronic dialysis patients Kidney Int 44 1086 1090 (Pubitemid 23316478)
    • (1993) Kidney International , vol.44 , Issue.5 , pp. 1086-1090
    • Iseki, K.1    Kinjo, K.2    Kimura, Y.3    Osawa, A.4    Fukiyama, K.5
  • 14
    • 0027257461 scopus 로고
    • Structural organization of the human gene encoding nuclear lamin A and nuclear lamin C
    • F Lin HJ Worman 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
  • 16
    • 0031686054 scopus 로고    scopus 로고
    • Nuclear lamins: Their structure, assembly, and interactions
    • DOI 10.1006/jsbi.1998.3987
    • N Stuurman S Heins U Aebi 1998 Nuclear lamins: their structure, assembly, and interactions J Struct Biol 122 42 66 (Pubitemid 28411184)
    • (1998) Journal of Structural Biology , vol.122 , Issue.1-2 , pp. 42-66
    • Stuurman, N.1    Heins, S.2    Aebi, U.3
  • 19
    • 0034702027 scopus 로고    scopus 로고
    • Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B)
    • A Muchir G Bonne AJ van der Kooi M van Meegen F Baas PA Bolhuis M de Visser K Schwartz 2000 Identification of mutations in the gene encoding lamins A/C in autosomal dominant limb girdle muscular dystrophy with atrioventricular conduction disturbances (LGMD1B) Hum Mol Genet 9 1453 1459 (Pubitemid 30312494)
    • (2000) Human Molecular Genetics , vol.9 , Issue.9 , pp. 1453-1459
    • Muchir, A.1    Bonne, G.2    Van Der Kool, A.J.3    Van Meegen, M.4    Baas, F.5    Bolhuis, P.A.6    De Visser, M.7    Schwartz, K.8
  • 24


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.