Literature DB >> 12196663

Lamin A/C mutations with lipodystrophy, cardiac abnormalities, and muscular dystrophy.

A J van der Kooi1, G Bonne, B Eymard, D Duboc, B Talim, M Van der Valk, P Reiss, P Richard, L Demay, L Merlini, K Schwartz, H F M Busch, M de Visser.   

Abstract

Mutations in the lamin A/C gene are found in Emery-Dreifuss muscular dystrophy, limb girdle muscular dystrophy with cardiac conduction disturbances, dilated cardiomyopathy with conduction system disease, and familial partial lipodystrophy. Cases with lamin A/C mutations presenting with lipodystrophy in combination with cardiac and/or skeletal muscle abnormalities are described.

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Year:  2002        PMID： 12196663     DOI： 10.1212/wnl.59.4.620

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  24 in total

1.  A Novel LMNA Mutation Causes Altered Nuclear Morphology and Symptoms of Familial Partial Lipodystrophy (Dunnigan Variety) with Progeroid Features.

Authors:  B Saha; D Lessel; F M Hisama; D F Leistritz; K Friedrich; G M Martin; C Kubisch; J Oshima
Journal:  Mol Syndromol       Date:  2010-09-14

Review 2.  Laminopathies: multiple disorders arising from defects in nuclear architecture.

Authors:  Veena K Parnaik; Kaliyaperumal Manju
Journal:  J Biosci       Date:  2006-09       Impact factor: 1.826

Review 3.  Adult stem cell maintenance and tissue regeneration in the ageing context: the role for A-type lamins as intrinsic modulators of ageing in adult stem cells and their niches.

Authors:  Vanja Pekovic; Christopher J Hutchison
Journal:  J Anat       Date:  2008-07       Impact factor: 2.610

Review 4.  Laminopathies and the long strange trip from basic cell biology to therapy.

Authors:  Howard J Worman; Loren G Fong; Antoine Muchir; Stephen G Young
Journal:  J Clin Invest       Date:  2009-07-01       Impact factor: 14.808

Review 5.  Genetic determinants of arterial stiffness.

Authors:  Jeongok G Logan; Mary B Engler; Hyungsuk Kim
Journal:  J Cardiovasc Transl Res       Date:  2014-12-04       Impact factor: 4.132

6.  Lamin A N-terminal phosphorylation is associated with myoblast activation: impairment in Emery-Dreifuss muscular dystrophy.

Authors:  V Cenni; P Sabatelli; E Mattioli; S Marmiroli; C Capanni; A Ognibene; S Squarzoni; N M Maraldi; G Bonne; M Columbaro; L Merlini; G Lattanzi
Journal:  J Med Genet       Date:  2005-03       Impact factor: 6.318

7.  Autosomal recessive forms of Charcot-Marie-Tooth disease.

Authors:  J M Vallat; D Grid; C Magdelaine; F Sturtz; M Tazir
Journal:  Curr Neurol Neurosci Rep       Date:  2004-09       Impact factor: 5.081

8.  LMNA E82K mutation activates FAS and mitochondrial pathways of apoptosis in heart tissue specific transgenic mice.

Authors:  Dan Lu; Hong Lian; Xiaojuan Zhang; Haitao Shao; Lan Huang; Chuan Qin; Lianfeng Zhang
Journal:  PLoS One       Date:  2010-12-06       Impact factor: 3.240

9.  Mandibuloacral dysplasia is caused by a mutation in LMNA-encoding lamin A/C.

Authors:  Giuseppe Novelli; Antoine Muchir; Federica Sangiuolo; Anne Helbling-Leclerc; Maria Rosaria D'Apice; Catherine Massart; Francesca Capon; Paolo Sbraccia; Massimo Federici; Renato Lauro; Cosimo Tudisco; Rosanna Pallotta; Gioacchino Scarano; Bruno Dallapiccola; Luciano Merlini; Gisèle Bonne
Journal:  Am J Hum Genet       Date:  2002-06-19       Impact factor: 11.025

10.  Lamin A/C-mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy.

Authors:  Alexandre Méjat; Valérie Decostre; Juan Li; Laure Renou; Akanchha Kesari; Daniel Hantaï; Colin L Stewart; Xiao Xiao; Eric Hoffman; Gisèle Bonne; Tom Misteli
Journal:  J Cell Biol       Date:  2009-01-05       Impact factor: 10.539
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