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Results: 1 to 20 of 135

1.

Lipodystrophy-linked LMNA p.R482W mutation induces clinical early atherosclerosis and in vitro endothelial dysfunction.

Bidault G, Garcia M, Vantyghem MC, Ducluzeau PH, Morichon R, Thiyagarajah K, Moritz S, Capeau J, Vigouroux C, Béréziat V.

Arterioscler Thromb Vasc Biol. 2013 Sep;33(9):2162-71. doi: 10.1161/ATVBAHA.113.301933. Epub 2013 Jul 11.

PMID:
23846499
[PubMed - indexed for MEDLINE]
2.

Human lipodystrophies linked to mutations in A-type lamins and to HIV protease inhibitor therapy are both associated with prelamin A accumulation, oxidative stress and premature cellular senescence.

Caron M, Auclair M, Donadille B, Béréziat V, Guerci B, Laville M, Narbonne H, Bodemer C, Lascols O, Capeau J, Vigouroux C.

Cell Death Differ. 2007 Oct;14(10):1759-67. Epub 2007 Jul 6.

PMID:
17612587
[PubMed - indexed for MEDLINE]
Free Article
3.

The R439C mutation in LMNA causes lamin oligomerization and susceptibility to oxidative stress.

Verstraeten VL, Caputo S, van Steensel MA, Duband-Goulet I, Zinn-Justin S, Kamps M, Kuijpers HJ, Ostlund C, Worman HJ, Briedé JJ, Le Dour C, Marcelis CL, van Geel M, Steijlen PM, van den Wijngaard A, Ramaekers FC, Broers JL.

J Cell Mol Med. 2009 May;13(5):959-71. doi: 10.1111/j.1582-4934.2009.00690.x. Epub 2009 Feb 11.

PMID:
19220582
[PubMed - indexed for MEDLINE]
4.

A homozygous mutation of prelamin-A preventing its farnesylation and maturation leads to a severe lipodystrophic phenotype: new insights into the pathogenicity of nonfarnesylated prelamin-A.

Le Dour C, Schneebeli S, Bakiri F, Darcel F, Jacquemont ML, Maubert MA, Auclair M, Jeziorowska D, Reznik Y, Béréziat V, Capeau J, Lascols O, Vigouroux C.

J Clin Endocrinol Metab. 2011 May;96(5):E856-62. doi: 10.1210/jc.2010-2234. Epub 2011 Feb 23.

PMID:
21346069
[PubMed - indexed for MEDLINE]
5.

Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy.

Araújo-Vilar D, Lattanzi G, González-Méndez B, Costa-Freitas AT, Prieto D, Columbaro M, Mattioli E, Victoria B, Martínez-Sánchez N, Ramazanova A, Fraga M, Beiras A, Forteza J, Domínguez-Gerpe L, Calvo C, Lado-Abeal J.

J Med Genet. 2009 Jan;46(1):40-8. doi: 10.1136/jmg.2008.059485. Epub 2008 Sep 19.

PMID:
18805829
[PubMed - indexed for MEDLINE]
6.

Prelamin A acts to accelerate smooth muscle cell senescence and is a novel biomarker of human vascular aging.

Ragnauth CD, Warren DT, Liu Y, McNair R, Tajsic T, Figg N, Shroff R, Skepper J, Shanahan CM.

Circulation. 2010 May 25;121(20):2200-10. doi: 10.1161/CIRCULATIONAHA.109.902056. Epub 2010 May 10.

PMID:
20458013
[PubMed - indexed for MEDLINE]
Free Article
7.

Accumulation of distinct prelamin A variants in human diploid fibroblasts differentially affects cell homeostasis.

Candelario J, Borrego S, Reddy S, Comai L.

Exp Cell Res. 2011 Feb 1;317(3):319-29. doi: 10.1016/j.yexcr.2010.10.014. Epub 2010 Oct 23.

PMID:
20974128
[PubMed - indexed for MEDLINE]
8.

Subcellular localization of SREBP1 depends on its interaction with the C-terminal region of wild-type and disease related A-type lamins.

Duband-Goulet I, Woerner S, Gasparini S, Attanda W, Kondé E, Tellier-Lebègue C, Craescu CT, Gombault A, Roussel P, Vadrot N, Vicart P, Ostlund C, Worman HJ, Zinn-Justin S, Buendia B.

Exp Cell Res. 2011 Dec 10;317(20):2800-13. doi: 10.1016/j.yexcr.2011.09.012. Epub 2011 Oct 4.

PMID:
21993218
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

The role of LMNA in adipose: a novel mouse model of lipodystrophy based on the Dunnigan-type familial partial lipodystrophy mutation.

Wojtanik KM, Edgemon K, Viswanadha S, Lindsey B, Haluzik M, Chen W, Poy G, Reitman M, Londos C.

J Lipid Res. 2009 Jun;50(6):1068-79. doi: 10.1194/jlr.M800491-JLR200. Epub 2009 Feb 5.

PMID:
19201734
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

LMNA-linked lipodystrophies: from altered fat distribution to cellular alterations.

Bidault G, Vatier C, Capeau J, Vigouroux C, Béréziat V.

Biochem Soc Trans. 2011 Dec;39(6):1752-7. doi: 10.1042/BST20110675. Review.

PMID:
22103520
[PubMed - indexed for MEDLINE]
11.

Nuclear envelope disorganization in fibroblasts from lipodystrophic patients with heterozygous R482Q/W mutations in the lamin A/C gene.

Vigouroux C, Auclair M, Dubosclard E, Pouchelet M, Capeau J, Courvalin JC, Buendia B.

J Cell Sci. 2001 Dec;114(Pt 24):4459-68.

PMID:
11792811
[PubMed - indexed for MEDLINE]
Free Article
12.

LMNA-associated cardiocutaneous progeria: an inherited autosomal dominant premature aging syndrome with late onset.

Kane MS, Lindsay ME, Judge DP, Barrowman J, Ap Rhys C, Simonson L, Dietz HC, Michaelis S.

Am J Med Genet A. 2013 Jul;161A(7):1599-611. doi: 10.1002/ajmg.a.35971. Epub 2013 May 10.

PMID:
23666920
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

Premature atherosclerosis associated with monogenic insulin resistance.

Hegele RA.

Circulation. 2001 May 8;103(18):2225-9.

PMID:
11342468
[PubMed - indexed for MEDLINE]
Free Article
14.

Familial partial lipodystrophy due to the LMNA R482W mutation with multinodular goitre, extrapyramidal syndrome and primary hyperaldosteronism.

Vantyghem MC, Faivre-Defrance F, Marcelli-Tourvieille S, Fermon C, Evrard A, Bourdelle-Hego MF, Vigouroux C, Defebvre L, Delemer B, Wemeau JL.

Clin Endocrinol (Oxf). 2007 Aug;67(2):247-9. Epub 2007 May 24.

PMID:
17524034
[PubMed - indexed for MEDLINE]
15.

Blocking farnesylation of the prelamin A variant in Hutchinson-Gilford progeria syndrome alters the distribution of A-type lamins.

Wang Y, Ostlund C, Choi JC, Swayne TC, Gundersen GG, Worman HJ.

Nucleus. 2012 Sep-Oct;3(5):452-62. doi: 10.4161/nucl.21675. Epub 2012 Aug 16.

PMID:
22895092
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Peroxisome proliferator-activated receptor-γ mutations responsible for lipodystrophy with severe hypertension activate the cellular renin-angiotensin system.

Auclair M, Vigouroux C, Boccara F, Capel E, Vigeral C, Guerci B, Lascols O, Capeau J, Caron-Debarle M.

Arterioscler Thromb Vasc Biol. 2013 Apr;33(4):829-38. doi: 10.1161/ATVBAHA.112.300962. Epub 2013 Feb 7.

PMID:
23393388
[PubMed - indexed for MEDLINE]
Free Article
17.

Type B mandibuloacral dysplasia with congenital myopathy due to homozygous ZMPSTE24 missense mutation.

Ben Yaou R, Navarro C, Quijano-Roy S, Bertrand AT, Massart C, De Sandre-Giovannoli A, Cadiñanos J, Mamchaoui K, Butler-Browne G, Estournet B, Richard P, Barois A, Lévy N, Bonne G.

Eur J Hum Genet. 2011 Jun;19(6):647-54. doi: 10.1038/ejhg.2010.256. Epub 2011 Jan 26.

PMID:
21267004
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

A novel phenotypic expression associated with a new mutation in LMNA gene, characterized by partial lipodystrophy, insulin resistance, aortic stenosis and hypertrophic cardiomyopathy.

Araújo-Vilar D, Lado-Abeal J, Palos-Paz F, Lattanzi G, Bandín MA, Bellido D, Domínguez-Gerpe L, Calvo C, Pérez O, Ramazanova A, Martínez-Sánchez N, Victoria B, Costa-Freitas AT.

Clin Endocrinol (Oxf). 2008 Jul;69(1):61-8. Epub 2008 Jul 1.

PMID:
18031308
[PubMed - indexed for MEDLINE]
19.

Protein profiling reveals energy metabolism and cytoskeletal protein alterations in LMNA mutation carriers.

Magagnotti C, Bachi A, Zerbini G, Fattore E, Fermo I, Riba M, Previtali SC, Ferrari M, Andolfo A, Benedetti S.

Biochim Biophys Acta. 2012 Jun;1822(6):970-9. doi: 10.1016/j.bbadis.2012.01.014. Epub 2012 Feb 3.

PMID:
22326558
[PubMed - indexed for MEDLINE]
Free Article
20.

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, Rouaix-Emery N, Stojkovic T, Cuisset JM, Millaire A, Lascols O, Vermersch P, Wemeau JL, Capeau J, Vigouroux C.

J Clin Endocrinol Metab. 2004 Nov;89(11):5337-46.

PMID:
15531479
[PubMed - indexed for MEDLINE]

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