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Clinical Genetics
Volumn 71, Issue 6, 2007, Pages 592-593
The position of the mutation within the LMNA gene determines the type and extent of tissue involvement in laminopathies [1]
Author keywords

[No Author keywords available]
Indexed keywords

CALPAIN 3; CASPASE; CREATINE KINASE; I KAPPA B ALPHA; IMMUNOGLOBULIN ENHANCER BINDING PROTEIN; LAMIN A; LAMIN C;
EID: 34249742648     PISSN: 00099163     EISSN: 13990004     Source Type: Journal    
DOI: 10.1111/j.1399-0004.2007.00772.x     Document Type: Letter
Times cited : (7)
References (7)
  • 1
    • 20944446928 scopus 로고    scopus 로고
    • LMNA mutation position predicts organ system involvement in laminopathies
    • Hegele RA. LMNA mutation position predicts organ system involvement in laminopathies. Clin Genet 2005: 68 (1): 31-34.
    • (2005) Clin Genet , vol.68 , Issue.1 , pp. 31-34
    • Hegele, R.A.1
  • 2
    • 33745791143 scopus 로고    scopus 로고
    • A LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy (FPLD2)
    • Morel CF, Thomas MA, Cao H et al. A LMNA splicing mutation in two sisters with severe Dunnigan-type familial partial lipodystrophy (FPLD2). J Clin Endocrinol Metab 2006: 91 (7): 2689-2695.
    • (2006) J Clin Endocrinol Metab , vol.91 , Issue.7 , pp. 2689-2695
    • Morel, C.F.1    Thomas, M.A.2    Cao, H.3
  • 3
    • 8744279211 scopus 로고    scopus 로고
    • Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities
    • Vantyghem MC, Pigny P, Maurage CA et al. Patients with familial partial lipodystrophy of the Dunnigan type due to a LMNA R482W mutation show muscular and cardiac abnormalities. J Clin Endocrinol Metab 2004: 89 (11): 5337-5346.
    • (2004) J Clin Endocrinol Metab , vol.89 , Issue.11 , pp. 5337-5346
    • Vantyghem, M.C.1    Pigny, P.2    Maurage, C.A.3
  • 4
    • 0032941594 scopus 로고    scopus 로고
    • Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A
    • Baghdiguian S, Martin M, Richard I et al. Calpain 3 deficiency is associated with myonuclear apoptosis and profound perturbation of the IκBα/NF-κB pathway in limb-girdle muscular dystrophy type 2A. Nat Med 1999: 5 (5): 503-511.
    • (1999) Nat Med , vol.5 , Issue.5 , pp. 503-511
    • Baghdiguian, S.1    Martin, M.2    Richard, I.3
  • 5
    • 1542317663 scopus 로고    scopus 로고
    • Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction
    • Lammerding J, Schulze PC, Takahashi T et al. Lamin A/C deficiency causes defective nuclear mechanics and mechanotransduction. J Clin Invest 2004: 113 (3): 370-378.
    • (2004) J Clin Invest , vol.113 , Issue.3 , pp. 370-378
    • Lammerding, J.1    Schulze, P.C.2    Takahashi, T.3
  • 6
    • 0442309366 scopus 로고    scopus 로고
    • Methamphetamine induces neuronal apoptosis via cross-talks between endoplasmic reticulum and mitochondria-dependent death cascades
    • Jayanthi S, Deng X, Noailles PA, Ladenheim B, Cadet JL. Methamphetamine induces neuronal apoptosis via cross-talks between endoplasmic reticulum and mitochondria-dependent death cascades. FASEB J 2004: 18 (2): 238-251.
    • (2004) FASEB J , vol.18 , Issue.2 , pp. 238-251
    • Jayanthi, S.1    Deng, X.2    Noailles, P.A.3    Ladenheim, B.4    Cadet, J.L.5
  • 7
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    • A clinician's plea
    • Hall JG. A clinician's plea. Nat Genet 2003: 33 (4): 440-442.
    • (2003) Nat Genet , vol.33 , Issue.4 , pp. 440-442
    • Hall, J.G.1

* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.